P35579
SS
Gene name |
MYH9 |
Protein name |
Myosin-9 |
Names |
Cellular myosin heavy chain, type A , Myosin heavy chain 9 , Myosin heavy chain, non-muscle IIa , Non-muscle myosin heavy chain A , NMMHC-A , Non-muscle myosin heavy chain IIa , NMMHC II-a , NMMHC-IIA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4627 |
EC number |
|
Protein Class |
|
Descriptions
Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.
Autoinhibitory domains (AIDs)
Target domain |
75-777 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1884 variants for P35579
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000369754 RCV000960214 rs56200894 RCV002243827 RCV002478456 CA182336 RCV000155187 RCV000298717 |
3 | Q>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003403412 rs773960235 RCV001540673 RCV000613702 CA10210742 |
4 | Q>R | MYH9-related condition [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001571969 RCV002487867 RCV000825381 RCV001334060 rs762745890 |
7 | D>Y | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10210738 RCV001573754 RCV001143859 rs201415443 RCV002531129 RCV001143858 RCV000613271 |
11 | Y>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852253 RCV002533978 rs1603484059 |
33 | W>C | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1603484060 RCV000790337 |
33 | W>G | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001328951 rs1603484060 |
33 | W>R | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2017727647 RCV001174533 |
34 | V>E | May-Hegglin Disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000790338 rs1603484057 |
37 | D>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2017727253 RCV001149981 RCV001149982 RCV003669205 |
39 | S>G | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1057520107 RCV000424167 RCV000790339 CA16603232 |
41 | F>S | MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147122501 RCV000155186 RCV000509473 CA182333 RCV000972196 RCV000339441 RCV000286819 |
46 | L>F | Vitelliform macular dystrophy 1 Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779218645 RCV002493406 RCV000851706 |
52 | E>K | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2146392922 RCV002261475 |
56 | V>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765636 CA10210705 RCV002531128 rs377348805 RCV000610555 |
65 | V>M | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245639 RCV003558559 rs1603484048 RCV000790349 |
74 | K>E | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2146392848 RCV000015142 |
76 | N>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10210700 rs150313549 RCV003765978 RCV000378918 RCV000345258 |
78 | P>L | Nonsyndromic Hearing Loss, Dominant MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000015122 VAR_010791 RCV000790350 rs121913655 CA257089 |
93 | N>K | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002503185 RCV001754102 rs1359996610 |
93 | N>S | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002222623 rs1603484047 VAR_018308 RCV000790351 |
95 | A>T | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV002245333 rs2146392811 |
95 | A>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs121913657 CA257103 RCV001537286 RCV000790352 RCV000477821 RCV000015138 VAR_018309 |
96 | S>L | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001148409 RCV001148408 rs2017588115 |
149 | H>N | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001148406 RCV001148407 rs2017587954 |
150 | I>V | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000625590 CA411406841 rs1556637683 |
220 | A>T | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1190062913 RCV002484065 RCV001195621 |
220 | A>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA184412 RCV000156222 rs727504863 RCV002484947 RCV003444207 |
278 | Y>C | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2017230295 RCV001328950 |
301 | R>C | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs149789202 RCV002273992 RCV002494570 RCV000217070 CA10210421 |
310 | I>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001584685 rs759123154 RCV002569110 |
341 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001149862 rs1464752413 RCV001149863 |
350 | G>S | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001149860 RCV001149861 rs56001030 |
361 | D>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_018310 rs1603483388 RCV000790353 |
373 | K>N | MYH9-related disorder MATINS [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV002245340 rs2146361194 |
375 | S>F | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000375903 COSM3405645 CA10210363 RCV003727704 RCV000319014 rs767088377 |
384 | D>N | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 central_nervous_system MYH9-related disorder [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003407929 rs369581570 COSM3149670 RCV001901743 RCV002490223 |
401 | V>I | Variant assessed as Somatic; MODERATE impact. MYH9-related condition Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002470950 rs1321659356 RCV000681823 |
424 | R>Q | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001147373 rs961182177 RCV001147372 RCV003769704 |
425 | M>L | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001733590 rs770360786 |
436 | A>T | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000352451 rs886057484 RCV000295267 CA10651268 |
513 | D>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001149749 RCV001149750 rs2017075745 |
519 | A>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000787012 rs1479935984 |
577 | V>A | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001198707 rs527418116 |
654 | L>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000425185 rs145241551 RCV001145336 CA10210100 RCV001145337 |
681 | G>S | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003147289 RCV002490369 RCV000523446 VAR_010792 rs80338826 RCV000015129 CA257095 RCV000790354 |
702 | R>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA257101 VAR_018311 RCV000851738 rs80338827 RCV001851865 RCV000015132 |
702 | R>H | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000851737 rs80338826 |
702 | R>S | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs80338828 RCV001659697 VAR_010793 RCV000032218 CA257097 RCV000015130 |
705 | R>H | Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss DFNA17 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002249107 rs1364444432 |
710 | N>T | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1464713086 RCV003708630 RCV002264878 |
718 | R>Q | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV003117546 RCV000790355 rs1184544985 RCV002507333 RCV002245640 COSM186239 |
718 | R>W | large_intestine MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs768721880 RCV001990630 RCV002484840 |
755 | R>C | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1383986403 RCV000844975 COSM3149632 |
764 | R>C | Variant assessed as Somatic; MODERATE impact. MYH9-related disorder breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757850500 RCV002488574 RCV001767894 |
766 | G>S | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003408085 RCV002016598 rs765414397 RCV003331272 |
802 | R>Q | Variant assessed as Somatic; MODERATE impact. MYH9-related condition [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002226406 RCV002254216 rs2146345102 |
828 | W>R | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001869038 RCV000790356 RCV002249462 rs1603483077 |
836 | P>L | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001753803 RCV002523222 CA10209927 RCV000359728 rs750718366 RCV000262620 |
866 | N>K | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001850063 rs200328859 RCV000344830 CA177123 RCV000306348 RCV000151342 |
879 | M>L | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603483058 RCV000790340 |
890 | Q>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2146343691 TCGA novel RCV002254229 |
903 | R>W | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV002496207 rs377115843 RCV002267282 |
905 | R>C | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000151340 RCV000765635 RCV002516039 rs727503289 CA177117 |
905 | R>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_044226 rs554332083 |
910 | K>Q | MATINS [UniProt] | Yes |
UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000790341 rs775434135 RCV000851756 |
921 | E>K | MYH9-related disorder [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA184052 rs727504740 RCV000156038 RCV001281687 |
930 | R>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002265869 rs1353636692 RCV000722320 |
940 | K>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000387348 rs151036570 RCV000726812 RCV000151338 RCV000293055 CA177111 RCV002243824 |
958 | A>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs535649291 RCV002479804 RCV002024359 |
1008 | L>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1205000981 RCV000825380 RCV002495189 |
1028 | M>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000317573 CA10653465 RCV000372267 rs886057482 |
1046 | L>V | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001837344 RCV003772358 rs1423642805 RCV002503337 |
1065 | A>T | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2146339816 RCV002245487 |
1066 | E>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_044228 | 1066 | E>del | MATINS [UniProt] | Yes | UniProt |
|
CA10575522 RCV000015141 rs876661302 |
1068 | Q>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA10575521 rs876661302 RCV000015139 |
1068 | Q>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000790342 rs1603482974 |
1068 | Q>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2146338775 RCV002272861 |
1093 | E>K | Autosomal dominant nonsyndromic hearing loss 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs137924205 CA10209689 RCV000360226 COSM325895 RCV002057800 RCV001449723 RCV000324164 |
1107 | R>Q | lung Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_018312 CA177103 RCV000151335 RCV000767070 rs200901330 RCV000363597 RCV000268989 RCV000990431 |
1114 | S>P | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000312584 CA10209687 rs765237081 RCV000367303 |
1124 | R>H | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000601770 RCV002483682 CA10209683 rs368797590 RCV003767458 RCV003444605 |
1133 | Q>E | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245325 rs1004670927 |
1143 | A>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2146338652 RCV001819372 RCV002280908 |
1151 | T>A | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001926830 RCV002503632 rs375081687 |
1151 | T>M | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000015124 VAR_010794 CA257093 RCV002513057 rs121913656 |
1155 | T>I | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2016767710 RCV002245421 |
1162 | R>S | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001092004 RCV000015121 RCV001542710 RCV001270614 CA257087 rs80338829 VAR_010795 RCV000790357 |
1165 | R>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA343278 VAR_018313 rs80338830 RCV000032221 |
1165 | R>L | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002245638 RCV000790343 rs1603482935 |
1195 | S>L | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001532465 rs772915368 RCV000337020 RCV000281921 CA10209639 |
1202 | A>V | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_018314 | 1205 | L>del | MATINS [UniProt] | Yes | UniProt |
|
RCV002520043 RCV000287071 CA10653464 RCV000381419 rs886057481 |
1213 | A>G | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770864107 RCV002224634 RCV002487026 |
1225 | E>K | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002503441 rs200697030 RCV001899358 |
1226 | R>L | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200697030 RCV003136111 RCV001572355 |
1226 | R>P | Autosomal dominant nonsyndromic hearing loss 17 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200697030 RCV000271817 CA10209593 RCV002523221 RCV000326885 RCV002480197 |
1226 | R>Q | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746956415 RCV003727815 VAR_083825 RCV000754552 |
1228 | E>K | DFNA17; uncertain significance [UniProt] | Yes |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002484074 RCV002559285 RCV001558599 RCV001200891 rs544801273 |
1234 | K>R | Inborn genetic diseases Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002489889 rs959272684 RCV001823503 |
1243 | S>L | Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001147597 RCV001147596 rs750911335 |
1247 | R>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002533072 rs1276028189 RCV000723104 RCV002493303 |
1248 | K>E | Inborn genetic diseases Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs147031322 COSM257473 RCV002488376 RCV001557807 |
1273 | D>N | large_intestine Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003405737 rs141582478 RCV001590391 RCV003388031 |
1280 | V>M | MYH9-related condition Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001911838 RCV002482510 rs778278736 |
1293 | D>N | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs886057480 RCV000300109 CA10651263 RCV000354932 |
1295 | K>R | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002517570 RCV000220609 RCV003727637 rs767235227 CA10209523 |
1301 | K>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001195702 rs201269631 RCV003718384 |
1322 | R>W | Nephrotic syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000997915 RCV000408217 rs758159686 RCV000285049 CA10209485 |
1342 | R>Q | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375955867 RCV002503857 RCV000222927 RCV001770164 CA10209481 |
1350 | E>D | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001565499 rs373384951 RCV002501910 |
1360 | A>G | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10209448 rs771692651 RCV000287475 RCV000342403 |
1376 | S>G | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000332817 CA10209442 RCV003447522 rs200616409 |
1384 | E>Q | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000156169 rs727504829 RCV001850149 CA184309 RCV002478463 |
1393 | D>E | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA134534 RCV000990430 RCV000037559 RCV000382897 RCV000346916 rs76368635 VAR_018315 RCV000992411 |
1400 | R>W | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS; likely benign [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000291994 RCV000386272 RCV000151333 RCV000724779 rs34292387 CA177099 |
1409 | D>N | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001150836 rs758626716 RCV001150837 CA10209422 RCV001555721 RCV000216020 |
1416 | T>M | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002254231 rs2016714761 RCV003094168 COSM726455 |
1417 | R>Q | lung Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP |
|
rs1603482879 RCV000790344 RCV000852125 |
1421 | E>A | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1569534914 RCV000735759 |
1421 | E>K | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1397006934 RCV002245419 |
1424 | D>E | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
TOPMed gnomAD ClinVar dbSNP |
|
RCV000626824 rs867593888 CA323590385 RCV000852126 |
1424 | D>G | Obesity MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs80338831 VAR_010796 CA257091 RCV000032223 |
1424 | D>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000790358 RCV002496364 RCV002466404 CA123739 VAR_018316 RCV003415706 RCV001271110 RCV000015134 rs80338831 RCV002513058 |
1424 | D>N | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related condition MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS; results in reduced protein levels [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000032224 RCV002513293 VAR_018317 CA343280 rs80338831 RCV000790359 |
1424 | D>Y | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001150835 RCV001150834 rs2016713858 |
1428 | D>G | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA177096 RCV000151332 RCV000276612 RCV000331644 RCV001850062 rs727503286 |
1433 | R>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10209416 rs530533580 RCV000584865 RCV002483561 |
1433 | R>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002500987 RCV002533860 RCV000790345 rs143979758 |
1434 | Q>H | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs373912645 RCV000151331 COSM186232 RCV002514913 CA177093 RCV002505154 |
1436 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs797044804 RCV001855730 RCV000851788 |
1447 | D>G | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000790360 rs797044804 CA347309 RCV000192270 |
1447 | D>V | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001756694 rs759107183 RCV002503190 |
1451 | A>V | Variant assessed as Somatic; MODERATE impact. Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001195703 RCV002284215 rs2016645859 |
1453 | E>G | Nephrotic syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10209369 RCV001355046 rs199968414 RCV000405444 RCV000308851 |
1464 | R>H | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000293752 RCV000348717 CA177087 RCV000726552 rs139134727 RCV000151329 |
1466 | R>W | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2016643084 RCV001146571 RCV001146570 |
1489 | M>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10209356 rs750188842 RCV000352278 RCV000388129 |
1492 | K>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000852130 rs1603482803 |
1510 | M>R | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002478429 rs727503284 CA273196 RCV001850061 RCV000151326 |
1516 | V>L | Rare genetic deafness Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503284 RCV002266358 |
1516 | V>M | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001029861 rs1603482802 |
1518 | K>Q | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs138193963 RCV000151325 RCV000727282 CA177078 RCV002483309 |
1519 | S>N | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000318391 CA10654113 rs886057479 RCV000263189 |
1552 | E>K | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs141543499 RCV000598425 RCV002497249 CA10209317 |
1555 | K>R | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002000639 RCV002497947 rs139039608 |
1562 | L>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs143269195 RCV000321800 RCV000151323 RCV001675636 COSM3939638 RCV000376435 CA177072 |
1576 | R>Q | oesophagus Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770925540 CA10209303 RCV000626302 |
1585 | K>missing | Autosomal dominant nonsyndromic hearing loss 17 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002284214 rs145319741 COSM4103817 RCV001819858 RCV003442215 RCV001150731 RCV001150732 |
1606 | S>L | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2269529 RCV000032225 RCV000037563 VAR_018318 CA134546 RCV002054532 RCV000402895 RCV000368736 RCV002504851 |
1626 | I>V | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002545350 RCV002050831 rs750410479 RCV002489922 |
1628 | S>L | Inborn genetic diseases Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002486791 RCV002032080 rs757547632 |
1633 | R>W | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001029843 rs1603482785 |
1636 | A>T | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002484941 CA183816 rs727504669 RCV000155935 |
1643 | L>M | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000851804 RCV000790346 rs1603482754 |
1649 | D>G | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000512726 RCV000392887 CA134552 RCV002293999 RCV000037565 RCV000338710 rs142094977 |
1651 | M>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779135945 RCV002524453 CA10209226 RCV000283777 RCV000378271 |
1652 | R>H | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001144525 RCV001144524 rs1035118799 |
1653 | E>D | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000323686 CA10209219 RCV000287421 rs143972348 |
1658 | R>C | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001375382 CA177069 rs138158369 RCV000151322 RCV000416222 RCV001150618 RCV001150619 |
1676 | K>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000790347 rs901232499 |
1678 | M>V | MYH9-related disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1569534723 RCV000778658 |
1684 | Q>* | MYH9-related disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001150617 RCV000851808 RCV001150616 RCV002245650 rs767426084 RCV001855731 RCV003396338 |
1692 | A>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder MYH9-related condition Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs538330756 RCV000735682 RCV002245632 |
1694 | R>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001150615 rs754714910 RCV002559454 RCV002559453 RCV003339517 RCV001150614 |
1703 | R>Q | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Inborn genetic diseases Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764139009 CA10209162 RCV000454246 |
1713 | S>G | Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148109368 RCV002294055 RCV000357489 RCV000265008 CA182302 RCV000900198 RCV000155173 |
1715 | G>S | Kidney disorder Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001892146 rs547770783 RCV002482628 |
1725 | R>W | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002506525 RCV003727996 RCV001449823 rs777701033 |
1726 | R>H | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001823273 rs2146328550 |
1728 | E>D | Type 1 diabetes mellitus 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000592360 RCV001195704 RCV002483612 CA10209125 rs140662138 |
1729 | A>S | Glomerulonephritis Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149114 RCV001149113 RCV003405356 rs1205219578 |
1731 | I>V | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related condition MYH9-related disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs770433607 RCV002488627 RCV003408178 RCV002248025 |
1751 | R>W | MYH9-related condition Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1603482715 RCV001260564 RCV000825784 |
1762 | I>M | Autosomal dominant nonsyndromic hearing loss 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000656460 RCV002534245 rs1430793034 |
1770 | R>C | Capillary infantile hemangioma Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001899870 RCV002490002 rs1455355336 |
1772 | H>Y | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA134556 RCV000353893 RCV000315373 RCV000037567 rs145139708 RCV000514769 |
1775 | K>E | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001580283 RCV000992414 rs527571090 RCV000825379 |
1780 | R>W | Nephrotic syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003331054 RCV001593293 RCV001149111 RCV003444778 rs141440715 RCV001149112 |
1793 | K>R | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs762773112 VAR_030385 |
1816 | I>V | MATINS [UniProt] | Yes |
UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000394413 RCV002523218 RCV001590995 RCV000368697 rs368440234 CA10209055 RCV000787013 |
1819 | L>R | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Inborn genetic diseases Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4103813 RCV001146311 RCV001146312 rs966415372 |
1830 | R>H | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001804244 rs1177354745 |
1837 | V>G | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000790361 rs80338834 VAR_010797 RCV001310800 CA257085 RCV000015119 RCV002466403 |
1841 | E>K | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MATINS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002501455 RCV000889844 rs201174456 |
1848 | L>V | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411372893 RCV000509305 rs1436597250 |
1855 | R>W | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3149543 RCV001144414 RCV001352047 rs748946434 RCV001144413 RCV001029915 |
1891 | A>T | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs149663189 RCV003727702 RCV000343175 RCV000392449 CA10208952 |
1906 | T>M | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003416853 rs1603482694 COSM1033831 |
1912 | R>C | Variant assessed as Somatic; MODERATE impact. MYH9-related condition [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP |
|
RCV000790362 rs1603482653 |
1924 | G>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2146325507 RCV002245416 |
1925 | D>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002273158 rs142565774 |
1930 | V>L | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001566000 rs142565774 COSM3379330 RCV003416395 |
1930 | V>M | pancreas MYH9-related condition [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA257082 RCV001092002 rs80338835 RCV000015116 RCV000790363 RCV001270545 |
1933 | R>* | MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603482652 RCV000790364 |
1934 | M>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000151318 RCV002281965 CA177061 RCV002478428 rs727503281 RCV003231344 |
1936 | R>W | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1603482650 RCV000790348 |
1938 | G>missing | MYH9-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA182299 RCV000961751 RCV000155172 RCV001148988 RCV002294054 rs115031369 RCV001148987 |
1939 | A>T | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000370238 CA134564 RCV000259717 RCV000960213 rs140588099 RCV000037571 |
1940 | G>R | Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587776808 CA257099 RCV000015131 |
1941 | D>missing | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV003346670 rs775685559 RCV001752248 |
1951 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002282464 RCV001148985 RCV001328210 RCV001148986 rs149560153 |
1960 | E>K | Autosomal dominant nonsyndromic hearing loss 17 Nephrotic syndrome MYH9-related disorder [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs2017729794 | 3 | Q>H | No | TOPMed | |
| rs56200894 | 3 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376417391 | 7 | D>G | No |
ESP TOPMed gnomAD |
|
|
rs762745890 COSM1033855 |
7 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396960700 COSM269665 |
9 | Y>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| COSM1308129 | 10 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000585195 rs1556642578 CA658684273 |
11 | Y>missing | No |
ClinGen ClinVar dbSNP |
|
| rs745587751 | 12 | V>L | No |
ExAC gnomAD |
|
| rs1409179671 | 13 | D>A | No |
TOPMed gnomAD |
|
| rs776649398 | 13 | D>N | No |
ExAC gnomAD |
|
| rs776649398 | 13 | D>Y | No |
ExAC gnomAD |
|
| rs770811497 | 14 | K>R | No |
ExAC gnomAD |
|
| rs1478280355 | 15 | N>D | No | gnomAD | |
| rs1603484062 | 15 | N>T | No | Ensembl | |
| rs1268363545 | 16 | F>L | No | gnomAD | |
| COSM2149515 | 17 | I>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746915345 | 18 | N>D | No |
ExAC TOPMed gnomAD |
|
|
rs748468366 RCV002273441 |
18 | N>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs568919566 | 18 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1195771824 | 19 | N>D | No |
TOPMed gnomAD |
|
| rs1569536666 | 19 | N>S | No | Ensembl | |
| rs755382917 | 20 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2017728289 | 23 | Q>R | No | gnomAD | |
| TCGA novel | 24 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1350004821 | 25 | D>E | No |
TOPMed gnomAD |
|
| rs750944944 | 25 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2017728031 | 26 | W>* | No | TOPMed | |
| rs2017728081 | 26 | W>R | No | gnomAD | |
| rs763757101 | 27 | A>P | No |
ExAC gnomAD |
|
| rs1408199233 | 28 | A>P | No |
TOPMed gnomAD |
|
| rs1408199233 | 28 | A>S | No |
TOPMed gnomAD |
|
| rs2017727894 | 28 | A>V | No | Ensembl | |
| rs2017727818 | 29 | K>N | No | Ensembl | |
| rs1009672560 | 29 | K>T | No | Ensembl | |
| COSM4833534 | 33 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375000039 | 35 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2017727606 | 35 | P>S | No | Ensembl | |
| rs1603484058 | 36 | S>P | No | Ensembl | |
| rs2146393029 | 37 | D>A | No | Ensembl | |
| rs1428883091 | 37 | D>N | No |
TOPMed gnomAD |
|
| rs2017727335 | 37 | D>E | No | TOPMed | |
| COSM3800180 | 37 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017727292 | 38 | K>N | No | Ensembl | |
| rs2146393015 | 39 | S>N | No | Ensembl | |
| rs1189741384 | 39 | S>R | No |
TOPMed gnomAD |
|
| rs1603484055 | 41 | F>L | No | Ensembl | |
| rs1603484054 | 42 | E>G | No | Ensembl | |
| rs2017726870 | 43 | P>L | No | TOPMed | |
| rs2146392987 | 43 | P>S | No | Ensembl | |
| rs1479109063 | 44 | A>G | No | gnomAD | |
|
RCV000852010 rs1603484050 |
44 | A>L | No |
ClinVar Ensembl dbSNP |
|
| rs770688464 | 45 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs770688464 | 45 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs772142110 | 47 | K>R | No | ExAC | |
| rs1603484049 | 50 | V>E | No | Ensembl | |
| rs1603484049 | 50 | V>G | No | Ensembl | |
| rs1276910148 | 50 | V>M | No | gnomAD | |
| rs755115939 | 52 | E>G | No |
ExAC gnomAD |
|
|
rs546497514 RCV001754608 |
53 | E>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 53 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs563932558 | 56 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs563932558 | 56 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2017725927 | 57 | E>Q | No | Ensembl | |
|
CA10210708 RCV000612887 rs751041617 |
57 | E>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| COSM1416067 | 59 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017725734 | 61 | N>Y | No | TOPMed | |
| rs2017725686 | 62 | G>E | No | gnomAD | |
| rs1426062541 | 63 | K>R | No | gnomAD | |
| rs1158070467 | 64 | K>R | No |
TOPMed gnomAD |
|
| rs377348805 | 65 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1569536663 | 67 | V>A | No | Ensembl | |
| TCGA novel | 69 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764768999 RCV001758501 |
70 | D>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs929085586 | 70 | D>N | No |
TOPMed gnomAD |
|
| TCGA novel | 72 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 72 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759156685 | 73 | Q>R | No |
ExAC gnomAD |
|
| rs2146392870 | 75 | M>I | No | Ensembl | |
| rs2017725215 | 75 | M>T | No | gnomAD | |
| rs2017725122 | 77 | P>S | No | Ensembl | |
| rs1040076761 | 81 | S>P | No | Ensembl | |
| rs771947799 | 84 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
rs774334908 RCV001819666 |
86 | M>K | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs774334908 | 86 | M>T | No |
ExAC gnomAD |
|
| rs1451904073 | 87 | A>S | No | gnomAD | |
| rs749533216 | 88 | E>A | No |
ExAC gnomAD |
|
| rs749533216 | 88 | E>V | No |
ExAC gnomAD |
|
|
rs2017724531 RCV001763651 |
90 | T>A | No |
ClinVar TOPMed dbSNP |
|
| rs2017724487 | 90 | T>M | No | TOPMed | |
| COSM1416066 | 91 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM444941 | 92 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4103838 | 94 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781771309 | 97 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs781771309 | 97 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs920764409 | 100 | N>S | No |
TOPMed gnomAD |
|
| rs920764409 | 100 | N>T | No |
TOPMed gnomAD |
|
| rs757740573 | 102 | K>R | No |
ExAC gnomAD |
|
| rs2017723760 | 104 | R>C | No | TOPMed | |
| rs778342329 | 104 | R>H | No |
ExAC gnomAD |
|
| COSM4833546 | 107 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1241867025 | 109 | L>F | No | gnomAD | |
| rs750178366 | 110 | I>L | No |
ExAC gnomAD |
|
| rs747387786 | 113 | Y>C | No |
ExAC gnomAD |
|
| rs2146384709 | 114 | S>L | No | Ensembl | |
| TCGA novel | 116 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1423923026 | 118 | C>Y | No |
TOPMed gnomAD |
|
| rs1250904991 | 119 | V>A | No | TOPMed | |
| rs1197773737 | 119 | V>L | No | gnomAD | |
| rs1603483868 | 121 | I>V | No | Ensembl | |
| rs1569536482 | 125 | K>R | No | Ensembl | |
| rs748614086 | 129 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1427950733 | 131 | S>T | No | gnomAD | |
| TCGA novel | 133 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2017589196 | 136 | E>D | No | TOPMed | |
| rs2146384646 | 138 | Y>* | No | Ensembl | |
| rs779562117 | 140 | G>S | No |
ExAC gnomAD |
|
| rs745522193 | 141 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1318401504 | 141 | K>R | No | gnomAD | |
| rs780891211 | 143 | R>K | No |
ExAC gnomAD |
|
| rs2017588710 | 144 | H>P | No | TOPMed | |
|
rs1457631648 COSM726441 |
145 | E>D | Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs751343355 | 145 | E>K | No | ExAC | |
| rs2099831313 | 146 | M>I | No | Ensembl | |
|
rs727503294 CA177161 RCV000151358 |
146 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3553960 | 147 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017588372 | 147 | P>S | No | Ensembl | |
| rs2017588238 | 148 | P>L | No | gnomAD | |
| COSM580097 | 149 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 149 | H>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1616417 rs1376851882 |
151 | Y>C | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1376851882 | 151 | Y>F | No |
TOPMed gnomAD |
|
| rs758437344 | 152 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1051179991 | 155 | D>G | No | Ensembl | |
| rs2017587536 | 155 | D>N | No |
TOPMed gnomAD |
|
| rs931698088 | 156 | T>I | No | TOPMed | |
|
RCV000502575 CA323962260 rs931698088 |
156 | T>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs765414835 | 157 | A>G | No |
ExAC gnomAD |
|
| rs1401567846 | 157 | A>T | No | gnomAD | |
| rs765414835 | 157 | A>V | No |
ExAC gnomAD |
|
| rs2017586895 | 159 | R>K | No | TOPMed | |
| rs1378936782 | 162 | M>L | No | gnomAD | |
|
rs2017354410 COSM3149691 |
165 | R>* | kidney [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
COSM4103837 rs576081279 |
165 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs760974197 | 168 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1488079328 | 168 | Q>K | No | gnomAD | |
| rs376494037 | 170 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866974542 | 175 | E>K | No | Ensembl | |
| rs2017340140 | 185 | K>R | No |
TOPMed gnomAD |
|
| rs2146369365 | 187 | V>I | No | Ensembl | |
|
RCV002251626 rs2146369359 |
189 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs1425138671 | 190 | Y>C | No |
TOPMed gnomAD |
|
| rs1330043219 | 192 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs773050248 | 194 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs773050248 | 194 | V>M | No |
ExAC TOPMed gnomAD |
|
|
COSM1416065 RCV001756315 rs2017339450 |
195 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD |
| rs747764327 | 197 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs2017339296 | 197 | S>P | No | TOPMed | |
| rs1408955749 | 198 | H>Y | No | TOPMed | |
| TCGA novel | 199 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768277556 | 202 | K>N | No |
ExAC gnomAD |
|
| rs1398352381 | 205 | G>D | No |
TOPMed gnomAD |
|
| rs748355717 | 206 | E>K | No |
ExAC gnomAD |
|
| rs779158750 | 207 | L>V | No |
ExAC gnomAD |
|
| rs755328956 | 208 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs780693982 | 209 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs780693982 | 209 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs754461620 | 209 | R>W | No |
ExAC gnomAD |
|
| rs1168142434 | 211 | L>R | No | gnomAD | |
| rs751080870 | 211 | L>V | No |
ExAC gnomAD |
|
| rs1378345210 | 212 | L>V | No |
TOPMed gnomAD |
|
|
CA177151 RCV000151354 rs727503292 |
213 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 214 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763616997 | 215 | N>S | No |
ExAC gnomAD |
|
| rs2017270121 | 218 | L>P | No | gnomAD | |
| rs375965637 | 221 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs759316855 | 225 | K>E | No |
ExAC gnomAD |
|
|
RCV000414478 CA10210519 rs760568093 |
227 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs772134801 | 228 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1386247353 | 230 | D>N | No |
TOPMed gnomAD |
|
| COSM6161832 | 233 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1033854 | 234 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748324041 | 235 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1312994728 | 239 | I>L | No |
TOPMed gnomAD |
|
| rs1312994728 | 239 | I>V | No |
TOPMed gnomAD |
|
|
COSM1033853 rs766168499 |
240 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs755933569 | 240 | R>H | No |
ExAC gnomAD |
|
| rs755933569 | 240 | R>L | No |
ExAC gnomAD |
|
| rs959415898 | 241 | I>N | No |
TOPMed gnomAD |
|
| rs959415898 | 241 | I>T | No |
TOPMed gnomAD |
|
| rs142891887 | 241 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1185066318 | 242 | N>S | No | gnomAD | |
| rs1474352622 | 244 | D>G | No | gnomAD | |
| COSM4824815 | 244 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774602087 | 246 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs371035780 | 248 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1488026984 | 248 | Y>C | No | gnomAD | |
| rs2017255355 | 250 | V>I | No | Ensembl | |
| TCGA novel | 251 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2017255309 | 253 | N>D | No | TOPMed | |
| rs763278314 | 253 | N>S | No |
ExAC gnomAD |
|
| rs1173355919 | 254 | I>T | No | TOPMed | |
| TCGA novel | 254 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775785923 | 256 | T>A | No |
ExAC gnomAD |
|
| TCGA novel | 258 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2017239198 | 262 | S>P | No | TOPMed | |
| COSM1714338 | 263 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1050634599 | 264 | A>T | No |
TOPMed gnomAD |
|
| rs1245854888 | 264 | A>V | No |
TOPMed gnomAD |
|
| rs1208877771 | 266 | R>C | No |
TOPMed gnomAD |
|
| TCGA novel | 267 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1330357532 | 269 | K>R | No |
TOPMed gnomAD |
|
| rs1330357532 | 269 | K>T | No |
TOPMed gnomAD |
|
| rs759639480 | 270 | E>K | No |
ExAC gnomAD |
|
| COSM1033852 | 271 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs112759129 | 271 | E>D | No | Ensembl | |
| rs777079976 | 272 | R>G | No |
ExAC gnomAD |
|
|
rs1169742196 COSM186246 |
272 | R>Q | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs1603483445 | 273 | T>P | No | Ensembl | |
| TCGA novel | 274 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs533560353 | 278 | Y>D | No |
1000Genomes ExAC |
|
| rs915376715 | 279 | Y>D | No | Ensembl | |
| rs773704266 | 280 | L>F | No |
ExAC gnomAD |
|
| COSM3992136 | 280 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1188816913 RCV001768839 |
285 | G>A | No |
ClinVar TOPMed dbSNP |
|
| rs2017238059 | 285 | G>R | No | Ensembl | |
| rs1188816913 | 285 | G>V | No | TOPMed | |
| rs1603483443 | 286 | E>K | No | Ensembl | |
| rs768214654 | 287 | H>P | No |
ExAC gnomAD |
|
| TCGA novel | 287 | H>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA177147 RCV000151352 rs727503291 |
287 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1470212122 | 289 | K>R | No | gnomAD | |
|
COSM1033851 rs144683949 |
290 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1212353878 | 290 | T>N | No | gnomAD | |
| rs371205546 | 291 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1221969347 | 293 | L>P | No | gnomAD | |
| rs1443226186 | 295 | E>K | No | gnomAD | |
| rs559841300 | 296 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 297 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1165886425 | 298 | N>K | No |
TOPMed gnomAD |
|
| rs752627937 | 300 | Y>C | No |
ExAC gnomAD |
|
| rs752627937 | 300 | Y>S | No |
ExAC gnomAD |
|
| rs375657864 | 302 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2017230130 | 305 | N>D | No | TOPMed | |
| rs1410636847 | 305 | N>K | No | gnomAD | |
| rs755009539 | 305 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs766489467 | 307 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
CA10210422 rs577429531 RCV002527118 |
308 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2017229916 | 309 | T>I | No | TOPMed | |
| rs544183939 | 311 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs369011405 | 312 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs769409234 | 317 | D>G | No |
ExAC gnomAD |
|
| rs2017229265 | 318 | M>I | No | Ensembl | |
| rs758951998 | 318 | M>L | No |
ExAC gnomAD |
|
| TCGA novel | 318 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10210416 rs758951998 RCV000615696 |
318 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs2017229226 | 319 | F>L | No | Ensembl | |
| rs1334470148 | 320 | Q>R | No |
TOPMed gnomAD |
|
| rs1291719553 | 322 | T>A | No | gnomAD | |
| rs1291719553 | 322 | T>P | No | gnomAD | |
|
RCV000825378 rs1364094810 |
323 | M>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs776391713 | 324 | E>G | No |
ExAC gnomAD |
|
| rs2146363170 | 325 | A>S | No | Ensembl | |
| rs2017228886 | 327 | R>K | No | Ensembl | |
| rs1288302731 | 327 | R>W | No |
TOPMed gnomAD |
|
| rs376652889 | 330 | G>C | No |
ESP ExAC gnomAD |
|
| rs376652889 | 330 | G>S | No |
ESP ExAC gnomAD |
|
| rs139798339 | 331 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1461292054 | 334 | E>D | No | gnomAD | |
| rs1416099595 | 337 | M>T | No | gnomAD | |
| rs369633699 | 339 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1300678332 | 341 | R>Q | No | TOPMed | |
| rs1467075674 | 342 | V>F | No |
TOPMed gnomAD |
|
| rs1467075674 | 342 | V>I | No |
TOPMed gnomAD |
|
| rs2146362545 | 343 | I>M | No | Ensembl | |
| rs1603483420 | 346 | V>G | No | Ensembl | |
|
COSM4983993 rs1044816218 |
347 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1044816218 | 347 | L>V | No |
TOPMed gnomAD |
|
| rs765931557 | 349 | L>F | No |
ExAC gnomAD |
|
| rs2017217336 | 351 | N>D | No | Ensembl | |
| rs2017217274 | 352 | I>V | No | Ensembl | |
|
RCV001547740 rs375702969 |
353 | V>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2017217160 | 354 | F>C | No | Ensembl | |
| rs1489239596 | 355 | K>R | No | TOPMed | |
| rs747874038 | 356 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1603483419 | 358 | R>Q | No | TOPMed | |
| rs2017217011 | 358 | R>W | No |
TOPMed gnomAD |
|
| rs2017216897 | 360 | T>S | No | Ensembl | |
| COSM5057798 | 361 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569535936 | 363 | A>G | No | Ensembl | |
| TCGA novel | 363 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569535936 COSM1216263 |
363 | A>V | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs780120030 | 366 | P>A | No |
ExAC gnomAD |
|
|
COSM726444 rs780120030 |
366 | P>S | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1354670070 | 367 | D>N | No | gnomAD | |
| rs746155138 | 368 | N>D | No |
ExAC TOPMed gnomAD |
|
| COSM1033849 | 368 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 371 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2017192597 | 374 | V>M | No |
TOPMed gnomAD |
|
| rs2017192478 | 376 | H>R | No | gnomAD | |
| COSM3912721 | 377 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753318371 | 379 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs753318371 | 379 | G>V | No |
ExAC TOPMed gnomAD |
|
| COSM3553958 | 383 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761384179 | 386 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs761384179 | 386 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1412531533 | 387 | R>S | No | gnomAD | |
| rs1312887570 | 391 | T>I | No | gnomAD | |
| COSM5575928 | 392 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4460643 | 392 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000722213 rs1156464508 |
393 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar Ensembl NCI-TCGA dbSNP |
|
rs202023656 COSM1416061 RCV001908740 |
393 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs1603483387 | 395 | K>R | No | gnomAD | |
| rs1603483387 | 395 | K>T | No | gnomAD | |
| rs2017191066 | 396 | V>M | No | TOPMed | |
| rs1454168105 | 397 | G>A | No |
TOPMed gnomAD |
|
|
rs759425387 COSM28470 |
398 | R>Q | kidney [Cosmic] | No |
cosmic curated ExAC gnomAD |
| COSM4642639 | 398 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569535860 | 399 | D>H | No | Ensembl | |
| rs2017190588 | 399 | D>V | No | Ensembl | |
|
rs747265281 RCV001795633 |
403 | K>R | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs2017190149 | 404 | A>S | No | TOPMed | |
| rs1482592893 | 404 | A>V | No |
TOPMed gnomAD |
|
| rs746493683 | 410 | A>V | No |
ExAC gnomAD |
|
| rs138436678 | 414 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752286142 | 415 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs752286142 | 415 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs972459144 | 418 | A>V | No | gnomAD | |
| COSM1327245 | 420 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779646317 | 420 | A>V | No | TOPMed | |
| rs1223862358 | 422 | Y>C | No | TOPMed | |
| rs2017157014 | 422 | Y>N | No | Ensembl | |
| COSM4826825 | 423 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2017156815 RCV001092005 |
424 | R>W | No |
ClinVar Ensembl dbSNP |
|
| rs2017156646 | 425 | M>I | No | Ensembl | |
| rs1247656863 | 427 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs760489771 | 427 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs773366133 | 430 | V>G | No |
ExAC gnomAD |
|
| rs767440614 | 431 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs774708443 | 432 | R>C | No | ExAC | |
| rs774708443 | 432 | R>G | No | ExAC | |
| rs769199813 | 432 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1236399112 | 433 | I>V | No | gnomAD | |
| rs749647444 | 434 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs749647444 | 434 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs770360786 | 436 | A>S | No |
ExAC gnomAD |
|
| rs746308824 | 439 | K>N | No |
ExAC gnomAD |
|
| rs777347688 | 440 | T>I | No |
ExAC gnomAD |
|
| rs777347688 | 440 | T>S | No |
ExAC gnomAD |
|
| rs1309957564 | 441 | K>R | No | gnomAD | |
| rs747859181 | 442 | R>S | No |
ExAC gnomAD |
|
| rs1437113375 | 444 | G>C | No | gnomAD | |
| rs1158286758 | 445 | A>T | No |
TOPMed gnomAD |
|
| rs1603483362 | 445 | A>V | No | Ensembl | |
| rs1476839512 | 446 | S>P | No |
TOPMed gnomAD |
|
| rs753698107 | 448 | I>V | No |
ExAC gnomAD |
|
| rs1485096168 | 449 | G>E | No | gnomAD | |
| rs1401912876 | 450 | I>T | No | TOPMed | |
| rs2146359135 | 451 | L>P | No | Ensembl | |
| rs756091700 | 453 | I>T | No |
ExAC gnomAD |
|
| TCGA novel | 456 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM124618 | 457 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 460 | D>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781250396 | 463 | S>L | No |
ExAC gnomAD |
|
| COSM6022027 | 465 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017115221 | 468 | C>S | No | TOPMed | |
| COSM726445 | 469 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001358744 rs751720764 |
470 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1469861257 | 471 | Y>C | No |
TOPMed gnomAD |
|
| rs2017115115 | 472 | T>I | No | TOPMed | |
| COSM461109 | 474 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017114876 | 482 | H>N | No | Ensembl | |
| rs1391306150 | 483 | T>I | No | gnomAD | |
| rs112719772 | 485 | F>L | No | Ensembl | |
| COSM726446 | 488 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017114672 | 490 | E>Q | No | TOPMed | |
|
RCV000600365 CA658799545 rs1556635817 |
491 | E>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2146356855 | 493 | Q>K | No | Ensembl | |
| rs759798434 | 494 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1166441183 | 494 | R>H | No |
TOPMed gnomAD |
|
| rs2017114355 | 495 | E>D | No | Ensembl | |
| rs2017114305 | 496 | G>S | No | TOPMed | |
| rs2017114234 | 496 | G>V | No | gnomAD | |
| rs761125973 | 497 | I>V | No |
ExAC gnomAD |
|
| rs2017113951 | 498 | E>G | No | Ensembl | |
|
RCV000722990 rs1569535680 COSM3842610 |
498 | E>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs936646766 | 500 | N>D | No | Ensembl | |
| rs374837768 | 502 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2017113681 | 503 | D>E | No |
TOPMed gnomAD |
|
| rs1374509912 | 503 | D>N | No | gnomAD | |
| rs1603483320 | 507 | D>A | No | Ensembl | |
|
rs377410439 RCV000997917 |
507 | D>N | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 508 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1603483319 | 509 | Q>R | No | Ensembl | |
| rs2017113275 | 511 | C>F | No |
TOPMed gnomAD |
|
| COSM5015728 | 512 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs568228938 | 512 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs1603483317 | 513 | D>A | No | TOPMed | |
| rs1603483317 | 513 | D>G | No | TOPMed | |
| rs375899392 | 513 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2017112986 | 517 | K>E | No | Ensembl | |
| rs575630984 | 518 | P>L | No | Ensembl | |
| rs2017075745 | 519 | A>S | No | Ensembl | |
| rs1266169478 | 519 | A>V | No | TOPMed | |
|
rs2146354592 TCGA novel |
520 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1603483274 | 520 | G>S | No | Ensembl | |
|
RCV001822480 rs1452533167 |
521 | P>S | No |
ClinVar dbSNP gnomAD |
|
| rs1452533167 | 521 | P>T | No | gnomAD | |
|
rs2146354582 COSM3842609 |
522 | P>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2017075548 | 522 | P>S | No | TOPMed | |
| rs2146354576 | 523 | G>D | No | Ensembl | |
| TCGA novel | 524 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1222055540 | 524 | I>V | No |
TOPMed gnomAD |
|
| rs2146354567 | 526 | A>P | No | Ensembl | |
| COSM4103835 | 526 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753996104 | 529 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2146354556 | 529 | D>V | No | Ensembl | |
| COSM6095059 | 529 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM245867 | 530 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1603483273 | 532 | C>G | No | Ensembl | |
| rs2146354542 | 532 | C>W | No | Ensembl | |
| rs2146354546 | 532 | C>Y | No | Ensembl | |
| rs2146354540 | 534 | F>S | No | Ensembl | |
| rs2146354532 | 537 | A>P | No | Ensembl | |
| rs2146354531 | 538 | T>P | No | Ensembl | |
| rs888907032 | 539 | D>H | No |
TOPMed gnomAD |
|
|
rs888907032 COSM1216259 |
539 | D>N | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs888907032 | 539 | D>Y | No |
TOPMed gnomAD |
|
| rs1286138433 | 540 | K>R | No | gnomAD | |
| rs2017074558 | 543 | V>M | No | gnomAD | |
|
TCGA novel rs1011018759 |
544 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 545 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376395196 | 546 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2017074232 | 547 | M>L | No | gnomAD | |
| rs2017074232 | 547 | M>V | No | gnomAD | |
|
COSM1535167 rs1343411512 COSM6161834 |
550 | Q>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
RCV001768450 rs1343411512 |
550 | Q>E | No |
ClinVar dbSNP gnomAD |
|
| rs1258173006 | 551 | G>R | No |
TOPMed gnomAD |
|
| rs1258173006 | 551 | G>S | No |
TOPMed gnomAD |
|
| rs1234360640 | 552 | T>I | No | gnomAD | |
| rs2017073912 | 554 | P>L | No | TOPMed | |
|
rs1304469257 COSM3553955 |
554 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM6095060 | 554 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2017073782 | 555 | K>R | No | TOPMed | |
| rs764746351 | 556 | F>L | No |
ExAC gnomAD |
|
| COSM4103834 | 561 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1285851674 | 565 | K>R | No |
TOPMed gnomAD |
|
| rs1303332766 | 568 | F>L | No | gnomAD | |
| rs1452836825 | 570 | I>V | No | gnomAD | |
| rs2017073124 | 571 | I>M | No | TOPMed | |
| rs771926023 | 571 | I>S | No |
ExAC gnomAD |
|
| rs2146354425 | 574 | A>V | No | Ensembl | |
| rs1228797100 | 575 | G>S | No | TOPMed | |
| rs1479935984 | 577 | V>G | No | gnomAD | |
| rs1569535485 | 578 | D>G | No | Ensembl | |
| rs1292798556 | 578 | D>Y | No | Ensembl | |
| rs1373796932 | 580 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 580 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781414941 | 582 | D>E | No |
ExAC TOPMed gnomAD |
|
|
rs962645547 COSM240794 |
583 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs757636640 | 586 | M>V | No |
ExAC gnomAD |
|
|
TCGA novel rs2017023097 |
591 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| COSM726448 | 593 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1392989079 | 594 | D>G | No | gnomAD | |
| rs2017022847 | 595 | N>I | No |
TOPMed gnomAD |
|
| rs2017022847 | 595 | N>S | No |
TOPMed gnomAD |
|
| rs113130911 | 596 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1218251906 | 596 | I>V | No |
TOPMed gnomAD |
|
| rs753422577 | 597 | A>T | No |
ExAC gnomAD |
|
| COSM4817441 | 604 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs559651078 | 604 | S>P | No | 1000Genomes | |
| rs896335377 | 605 | D>E | No |
TOPMed gnomAD |
|
|
rs750091087 COSM1033848 |
609 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2146351749 | 612 | W>* | No | Ensembl | |
| rs2017022181 | 614 | D>G | No | Ensembl | |
| rs1212140955 | 615 | V>A | No |
TOPMed gnomAD |
|
| rs1212140955 | 615 | V>G | No |
TOPMed gnomAD |
|
| rs1452906166 | 615 | V>M | No | gnomAD | |
|
RCV001752500 rs747144646 |
617 | R>C | No |
ClinVar ExAC dbSNP gnomAD |
|
|
rs151240427 COSM1033847 |
617 | R>H | Variant assessed as Somatic; MODERATE impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1327289053 | 618 | I>F | No | gnomAD | |
| rs779544457 | 619 | I>V | No |
ExAC gnomAD |
|
| rs529696501 | 622 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751142413 | 624 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs376240562 | 625 | A>G | No |
ESP ExAC gnomAD |
|
| rs376240562 | 625 | A>V | No |
ESP ExAC gnomAD |
|
| TCGA novel | 626 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765127399 | 626 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs752678528 | 626 | G>S | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs563928943 |
627 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs2016973821 | 627 | M>T | No | TOPMed | |
| rs759344915 | 627 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs766302946 | 628 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs773559295 | 629 | E>Q | No | ExAC | |
| rs1186383756 | 630 | T>I | No | gnomAD | |
| rs1186383756 | 630 | T>N | No | gnomAD | |
| rs200546575 | 631 | A>T | No |
1000Genomes TOPMed gnomAD |
|
| rs774818812 | 632 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1164585870 | 633 | P>L | No |
TOPMed gnomAD |
|
| rs560237482 | 634 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1034580397 | 635 | A>S | No | Ensembl | |
| TCGA novel | 636 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770339677 | 638 | T>K | No |
ExAC gnomAD |
|
|
COSM1216262 rs770339677 |
638 | T>M | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| COSM726449 | 639 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 643 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1349969983 | 644 | R>C | No | TOPMed | |
| TCGA novel | 645 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016972595 | 646 | V>L | No |
1000Genomes TOPMed gnomAD |
|
| rs2016972595 | 646 | V>M | No |
1000Genomes TOPMed gnomAD |
|
| COSM4752846 | 647 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1216260 rs971652837 |
650 | Y>C | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1024361841 | 656 | K>R | No |
TOPMed gnomAD |
|
| rs2016972136 | 659 | A>V | No | Ensembl | |
| rs1389534696 | 660 | T>M | No | gnomAD | |
| rs2072121426 | 662 | R>K | No | Ensembl | |
| rs760820049 | 664 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1482446350 | 666 | P>A | No | TOPMed | |
| rs1482446350 | 666 | P>S | No | TOPMed | |
|
RCV001663440 rs575821361 |
667 | N>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs575821361 | 667 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1033846 | 670 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2016971442 | 670 | R>H | No | TOPMed | |
| rs2016971348 | 672 | I>V | No | gnomAD | |
| rs1181607328 | 677 | E>K | No | TOPMed | |
| rs1220725450 | 678 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs145241551 | 681 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1180042238 | 685 | P>A | No | gnomAD | |
| rs779853972 | 685 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779853972 | 685 | P>Q | No |
ExAC TOPMed gnomAD |
|
|
rs779853972 RCV001769437 |
685 | P>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1180042238 | 685 | P>S | No | gnomAD | |
| rs991088078 | 686 | H>Q | No | Ensembl | |
|
COSM26581 rs1200383147 |
686 | H>Y | lung large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs745729891 | 687 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs757396174 | 688 | V>L | No |
ExAC TOPMed gnomAD |
|
|
rs757396174 COSM1033845 |
688 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs2146348210 RCV001877479 |
690 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs1328005977 | 690 | D>G | No | gnomAD | |
|
RCV001755996 rs751852988 RCV000603024 CA10210093 |
693 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764189836 | 693 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs758606637 | 695 | N>S | No |
ExAC gnomAD |
|
| rs2146348191 | 699 | E>K | No | Ensembl | |
| rs560395577 | 701 | I>M | No | 1000Genomes | |
| rs2016963043 | 701 | I>T | No | TOPMed | |
| rs2016962766 | 705 | R>C | No | gnomAD | |
| rs1310965766 | 709 | P>S | No |
TOPMed gnomAD |
|
| rs1364444432 | 710 | N>S | No | gnomAD | |
| rs2016962443 | 710 | N>Y | No | TOPMed | |
| rs773875063 | 713 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1184544985 | 718 | R>G | No |
TOPMed gnomAD |
|
| rs1464713086 | 718 | R>L | No | gnomAD | |
| rs1272425560 | 719 | Q>E | No | Ensembl | |
| rs1308156097 | 722 | E>K | No | Ensembl | |
| rs2146347456 | 725 | T>I | No | Ensembl | |
| rs1388737281 | 726 | P>A | No | gnomAD | |
| rs371833667 | 728 | S>C | No | ESP | |
| rs751954605 | 730 | P>A | No | Ensembl | |
| rs779077719 | 731 | K>N | No |
ExAC gnomAD |
|
| rs1475932323 | 731 | K>R | No | gnomAD | |
| rs1196300709 | 732 | G>D | No | gnomAD | |
| rs957338981 | 732 | G>S | No | TOPMed | |
| rs754226657 | 736 | G>R | No |
ExAC gnomAD |
|
| COSM5611448 | 738 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368367291 | 739 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs140032888 | 741 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 742 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1286438 | 743 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 743 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016932953 | 744 | I>M | No | Ensembl | |
| rs1472400866 | 746 | A>D | No |
TOPMed gnomAD |
|
| rs1177728611 | 746 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1472400866 | 746 | A>V | No |
TOPMed gnomAD |
|
| rs2016932757 | 749 | L>F | No | Ensembl | |
| COSM1308126 | 750 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs950094791 | 750 | D>N | No | Ensembl | |
| rs2016932577 | 751 | S>N | No | Ensembl | |
| rs1358930244 | 752 | N>H | No |
TOPMed gnomAD |
|
| rs937636221 | 756 | I>L | No |
TOPMed gnomAD |
|
| rs769495712 | 756 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs937636221 | 756 | I>V | No |
TOPMed gnomAD |
|
|
rs2146346655 RCV002276435 |
762 | F>WPH | No |
ClinVar dbSNP |
|
| rs1282922939 | 763 | F>C | No |
TOPMed gnomAD |
|
| rs770092510 | 763 | F>L | No |
ExAC gnomAD |
|
| rs1356205630 | 763 | F>V | No | gnomAD | |
| rs1383986403 | 764 | R>G | No |
TOPMed gnomAD |
|
| rs746272927 | 764 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs746272927 | 764 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs757850500 | 766 | G>R | No |
ExAC gnomAD |
|
| rs1168825871 | 767 | V>M | No | TOPMed | |
| COSM1416056 | 769 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1302034883 | 770 | H>D | No | gnomAD | |
|
rs2146346627 RCV001897560 |
770 | H>R | No |
ClinVar Ensembl dbSNP |
|
| rs2146346624 | 771 | L>M | No | Ensembl | |
| rs778631810 | 774 | E>G | No |
ExAC gnomAD |
|
| rs1390002402 | 774 | E>K | No | Ensembl | |
| rs1411583227 | 775 | R>Q | No | gnomAD | |
| COSM1033844 | 776 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4103832 | 778 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1328642771 | 780 | T>N | No |
TOPMed gnomAD |
|
| rs1328642771 | 780 | T>S | No |
TOPMed gnomAD |
|
| rs143290101 | 781 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs766088687 | 781 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs139966058 | 782 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1535168 rs761808742 |
783 | I>V | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs762985813 | 784 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1288434900 | 784 | I>T | No | gnomAD | |
| rs764202808 | 784 | I>V | No |
ExAC gnomAD |
|
| rs1360639678 | 787 | Q>* | No |
TOPMed gnomAD |
|
| rs1360639678 | 787 | Q>K | No |
TOPMed gnomAD |
|
| rs775388995 | 788 | A>T | No |
ExAC gnomAD |
|
| rs1277008210 | 789 | C>R | No |
TOPMed gnomAD |
|
| rs1481570838 | 789 | C>Y | No | gnomAD | |
| rs1225748629 | 790 | C>Y | No | gnomAD | |
| rs2016930191 | 791 | R>W | No | Ensembl | |
| rs1363695227 | 792 | G>A | No | gnomAD | |
| rs770074508 | 792 | G>S | No | ExAC | |
|
rs2016930001 COSM3701751 |
793 | Y>C | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs374505336 | 795 | A>S | No |
ESP TOPMed gnomAD |
|
| rs2146346569 | 797 | K>R | No | Ensembl | |
| rs1481830546 | 798 | A>T | No | gnomAD | |
| rs1252181324 | 798 | A>V | No | gnomAD | |
| rs780787641 | 800 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM87982 rs756860325 |
800 | A>V | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
rs777484384 RCV000851749 |
801 | K>N | No |
ClinVar ExAC dbSNP gnomAD |
|
| COSM726450 | 802 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs548123125 | 802 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM4103831 | 803 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1285650243 | 805 | Q>H | No |
TOPMed gnomAD |
|
| rs1487827633 | 806 | L>R | No |
TOPMed gnomAD |
|
| rs1428269826 | 807 | T>A | No | gnomAD | |
| rs2016898004 | 807 | T>N | No | TOPMed | |
| rs1428269826 | 807 | T>P | No | gnomAD | |
| rs201967008 | 808 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs201967008 | 808 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs1270895418 COSM3553948 |
809 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs766731617 | 809 | M>L | No |
ExAC gnomAD |
|
|
COSM33292 VAR_036006 rs2146345143 |
810 | K>N | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated Ensembl UniProt |
| rs1464332684 | 810 | K>T | No | gnomAD | |
| rs1603483093 | 811 | V>G | No | Ensembl | |
| TCGA novel | 812 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 812 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760924443 COSM4103830 |
814 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs528027573 | 817 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs528027573 | 817 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs565554438 | 818 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1569535262 | 823 | R>W | No | Ensembl | |
| rs1156433277 | 826 | Q>R | No |
TOPMed gnomAD |
|
| rs2016896748 | 829 | R>Q | No | gnomAD | |
|
TCGA novel rs2016896786 |
829 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2146345096 | 830 | L>V | No | Ensembl | |
| rs2016896578 | 831 | F>L | No | TOPMed | |
| rs1436399558 | 833 | K>R | No | TOPMed | |
|
rs2146344336 RCV002223431 |
837 | L>missing | No |
ClinVar dbSNP |
|
| rs924955378 | 842 | R>Q | No | TOPMed | |
| rs1385755065 | 842 | R>W | No | gnomAD | |
| rs144633299 | 843 | Q>R | No |
ESP TOPMed |
|
|
TCGA novel rs2016879280 |
847 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA |
| rs770422754 | 847 | M>V | No |
ExAC gnomAD |
|
| TCGA novel | 850 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016879200 | 850 | K>Q | No | TOPMed | |
| rs1164560286 | 851 | E>V | No | gnomAD | |
| TCGA novel | 852 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2146344272 RCV001760673 |
853 | E>L | No |
ClinVar Ensembl dbSNP |
|
| rs1348678369 | 855 | V>L | No |
TOPMed gnomAD |
|
| rs1348678369 | 855 | V>M | No |
TOPMed gnomAD |
|
| rs888923106 | 856 | K>T | No |
TOPMed gnomAD |
|
| rs1603483075 | 857 | V>G | No | Ensembl | |
| rs1379313955 | 857 | V>I | No | TOPMed | |
| COSM1308125 | 858 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 859 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371397198 | 861 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs747918904 | 861 | Q>R | No |
ExAC gnomAD |
|
| rs2016878544 | 862 | L>V | No | TOPMed | |
| rs1308862965 | 863 | A>S | No |
TOPMed gnomAD |
|
| rs1349640219 | 864 | A>S | No |
TOPMed gnomAD |
|
|
RCV002120250 rs142467329 |
864 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 865 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756244209 | 865 | E>G | No | ExAC | |
| rs780342410 | 865 | E>Q | No |
ExAC gnomAD |
|
| rs1268708387 | 866 | N>S | No | gnomAD | |
| rs2016878017 | 867 | R>W | No | Ensembl | |
| rs757448185 | 869 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs757448185 | 869 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs757448185 | 869 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1462730594 | 870 | E>K | No | gnomAD | |
| rs1374971545 | 871 | M>L | No | gnomAD | |
| rs2016877632 | 872 | E>G | No | Ensembl | |
| rs764450747 | 873 | T>A | No |
ExAC gnomAD |
|
|
rs763516009 RCV001659041 |
873 | T>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2016877350 | 876 | S>C | No | Ensembl | |
| COSM419569 | 877 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2016869193 | 878 | L>I | No | TOPMed | |
| rs1281759953 | 879 | M>T | No | gnomAD | |
| rs200328859 | 879 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1240283327 | 880 | A>T | No |
TOPMed gnomAD |
|
| rs1236627285 | 880 | A>V | No | TOPMed | |
| rs1226164291 | 882 | K>R | No | gnomAD | |
| rs1603483060 | 883 | L>W | No | Ensembl | |
| rs1454195423 | 884 | Q>H | No |
TOPMed gnomAD |
|
| rs745736187 | 888 | Q>E | No |
ExAC gnomAD |
|
| rs1316967947 | 888 | Q>H | No |
TOPMed gnomAD |
|
| rs1398419087 | 890 | Q>E | No |
TOPMed gnomAD |
|
| rs1603483057 | 893 | T>P | No | Ensembl | |
|
rs1472348578 COSM1416053 |
894 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1243945044 | 898 | E>D | No | gnomAD | |
| rs1462795072 | 898 | E>K | No |
TOPMed gnomAD |
|
| rs1215219107 | 903 | R>Q | No | gnomAD | |
| rs1603483055 | 904 | A>P | No | Ensembl | |
|
CA10209884 rs754354210 RCV001824345 RCV000600513 |
907 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766982816 | 907 | T>I | No |
ExAC gnomAD |
|
| rs150177079 | 908 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2016867375 | 908 | A>V | No | Ensembl | |
|
RCV002248026 rs2146343648 |
909 | K>missing | No |
ClinVar dbSNP |
|
| COSM444939 | 912 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3800178 | 915 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1895543868 | 916 | I>T | No |
TOPMed gnomAD |
|
| rs2146343630 | 918 | H>Y | No | Ensembl | |
| rs1318910548 | 919 | D>N | No | gnomAD | |
| rs1165284857 | 923 | R>K | No |
TOPMed gnomAD |
|
| rs140933307 | 924 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs540698347 | 924 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs540698347 | 924 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs2016866889 | 925 | E>G | No | TOPMed | |
| COSM1416052 | 925 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1474469422 | 926 | E>Q | No | gnomAD | |
| rs770957131 | 929 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2016866726 | 929 | E>K | No | Ensembl | |
|
rs2016866550 RCV002254230 |
930 | R>G | No |
ClinVar Ensembl dbSNP |
|
| rs727504740 | 930 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1318665432 | 932 | Q>R | No |
TOPMed gnomAD |
|
| rs773227499 | 936 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 937 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748364634 | 938 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs368994508 | 939 | K>E | No |
ESP TOPMed |
|
| rs558420659 | 939 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1416051 | 940 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755311538 | 940 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs1256574392 | 941 | M>L | No |
TOPMed gnomAD |
|
| rs1170023687 | 942 | Q>E | No | gnomAD | |
| rs538431419 | 942 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1421778039 | 945 | I>T | No | gnomAD | |
| rs1157553597 | 948 | L>I | No | gnomAD | |
| rs1219581491 | 953 | E>K | No | gnomAD | |
| rs770044873 | 955 | E>K | No |
ExAC gnomAD |
|
| TCGA novel | 956 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746428179 | 957 | S>G | No | ExAC | |
| rs781756258 | 957 | S>N | No |
ExAC gnomAD |
|
| rs374840260 | 957 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746428179 | 957 | S>R | No | ExAC | |
| rs1314063310 | 959 | R>Q | No |
TOPMed gnomAD |
|
| rs778229923 | 959 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2016854641 | 964 | L>Q | No | Ensembl | |
| rs1305976278 | 964 | L>V | No |
TOPMed gnomAD |
|
| rs753419440 | 965 | E>D | No |
ExAC TOPMed gnomAD |
|
| COSM3992135 | 965 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1345299849 | 966 | K>N | No |
TOPMed gnomAD |
|
| rs16996652 | 967 | V>A | No | gnomAD | |
|
VAR_044227 rs16996652 |
967 | V>E | No |
UniProt dbSNP gnomAD |
|
| rs16996652 | 967 | V>G | No | gnomAD | |
| rs2016854338 | 967 | V>L | No | TOPMed | |
| rs1569535184 | 969 | T>A | No | Ensembl | |
| rs755833335 | 969 | T>I | No |
ExAC gnomAD |
|
| rs761675946 | 970 | E>K | No |
ExAC gnomAD |
|
| rs199654108 | 971 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751639664 | 971 | A>S | No |
ExAC TOPMed gnomAD |
|
|
RCV000842303 rs751639664 |
971 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs199654108 | 971 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2016853822 | 972 | K>T | No | Ensembl | |
| rs760011069 | 974 | K>N | No |
ExAC gnomAD |
|
| rs770237894 | 974 | K>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 975 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1569535182 | 977 | E>D | No | Ensembl | |
| rs1258982191 | 978 | E>K | No | gnomAD | |
| COSM4832982 | 978 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1488601046 | 979 | E>G | No | gnomAD | |
| COSM78996 | 980 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777089353 | 980 | Q>H | No |
ExAC gnomAD |
|
| rs771579189 | 981 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs747453689 | 981 | I>N | No |
ExAC gnomAD |
|
| rs771579189 | 981 | I>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 982 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1192579067 | 985 | D>E | No |
TOPMed gnomAD |
|
|
RCV001869263 RCV000825383 rs199520053 |
986 | Q>H | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1422821339 | 987 | N>K | No | gnomAD | |
| rs1325954970 | 988 | C>F | No | gnomAD | |
| rs2016853182 | 988 | C>R | No | TOPMed | |
| rs1325954970 | 988 | C>Y | No | gnomAD | |
| rs201389127 | 989 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2016852782 | 989 | K>R | No | TOPMed | |
| rs1172070794 | 991 | A>G | No |
TOPMed gnomAD |
|
| rs1462668384 | 993 | E>A | No |
TOPMed gnomAD |
|
| rs2016833100 | 994 | K>R | No |
TOPMed gnomAD |
|
| rs1390409373 | 996 | L>M | No |
TOPMed gnomAD |
|
| rs2146341749 | 998 | E>* | No | Ensembl | |
| rs1262532933 | 1001 | I>T | No | gnomAD | |
| rs2016832861 | 1002 | A>V | No | Ensembl | |
| COSM1308124 | 1003 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs373350321 | 1004 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2146341726 RCV001375332 |
1005 | T>A | No |
ClinVar Ensembl dbSNP |
|
| rs758307420 | 1006 | T>A | No |
ExAC gnomAD |
|
| rs1041697352 | 1007 | N>S | No |
TOPMed gnomAD |
|
| rs896056405 | 1008 | L>R | No | Ensembl | |
| COSM1327247 | 1009 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1332967584 | 1012 | E>Q | No | gnomAD | |
| TCGA novel | 1013 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2016832334 |
1014 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2016832289 | 1015 | S>F | No | Ensembl | |
| rs1334169478 | 1016 | K>R | No | gnomAD | |
| rs566644790 | 1019 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| COSM444938 | 1020 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1468410925 | 1020 | K>T | No | gnomAD | |
| rs1365263842 | 1021 | L>F | No |
TOPMed gnomAD |
|
| rs767919752 | 1022 | K>N | No | ExAC | |
| rs773575034 | 1022 | K>R | No |
ExAC TOPMed |
|
| rs762311512 | 1023 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs769284029 | 1025 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1279963355 | 1027 | A>E | No | gnomAD | |
| rs745573154 | 1027 | A>T | No |
ExAC TOPMed gnomAD |
|
| COSM478925 | 1029 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1349012755 | 1030 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs2146341663 RCV002005785 |
1031 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs2016831255 | 1031 | D>N | No | Ensembl | |
| COSM1033842 | 1031 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1311867012 | 1033 | E>G | No | gnomAD | |
|
RCV001375233 rs772948183 |
1035 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs771889310 | 1035 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1205232668 | 1036 | L>F | No |
TOPMed gnomAD |
|
| rs748075110 | 1037 | R>C | No |
ExAC gnomAD |
|
| rs1194942976 | 1037 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1194942976 | 1037 | R>L | No |
TOPMed gnomAD |
|
| rs2049664923 | 1038 | R>G | No | TOPMed | |
| rs779024392 | 1039 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2016798909 | 1040 | E>G | No | Ensembl | |
| rs1180703933 | 1040 | E>K | No |
TOPMed gnomAD |
|
| rs1369361478 | 1041 | K>M | No | TOPMed | |
|
rs2016798768 COSM4103827 |
1043 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs957892036 | 1043 | R>L | No |
1000Genomes TOPMed gnomAD |
|
| rs957892036 | 1043 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs1321987923 | 1049 | T>A | No | gnomAD | |
| rs1321987923 | 1049 | T>P | No | gnomAD | |
| rs2016798446 | 1050 | R>C | No | TOPMed | |
| rs768664061 | 1050 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749390875 | 1051 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001758232 rs1319309604 |
1051 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs2016798208 | 1052 | K>E | No |
TOPMed gnomAD |
|
| rs1343443370 | 1056 | D>Y | No | gnomAD | |
| rs756355713 | 1057 | S>Y | No |
ExAC gnomAD |
|
| rs140004540 | 1059 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs56767084 | 1060 | L>F | No | ExAC | |
| rs199971000 | 1061 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1328427147 | 1061 | S>N | No |
TOPMed gnomAD |
|
| rs778202463 | 1061 | S>R | No |
TOPMed gnomAD |
|
| rs368438600 | 1062 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1323058824 | 1062 | D>V | No | gnomAD | |
| rs756383298 | 1063 | Q>E | No | Ensembl | |
| rs147911658 | 1064 | I>F | No |
ESP ExAC gnomAD |
|
| rs1423642805 | 1065 | A>S | No | gnomAD | |
|
COSM1191659 rs1569535071 |
1066 | E>D | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2016797192 | 1067 | L>F | No |
TOPMed gnomAD |
|
| rs2016797192 | 1067 | L>I | No |
TOPMed gnomAD |
|
|
rs2146339780 RCV002024033 |
1069 | A>missing | No |
ClinVar dbSNP |
|
|
COSM726452 rs1201940713 |
1070 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs532156048 | 1072 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1416050 rs532156048 CA10209726 RCV000213761 RCV001561991 |
1072 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1556631812 CA411389399 RCV000609396 COSM252632 |
1072 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
| rs1372257019 | 1075 | K>E | No |
TOPMed gnomAD |
|
| rs1408801802 | 1075 | K>R | No | gnomAD | |
| rs749228893 | 1076 | M>I | No |
ExAC gnomAD |
|
| rs1444773585 | 1077 | Q>E | No | gnomAD | |
| rs2016796192 | 1081 | K>I | No | TOPMed | |
| rs780336470 | 1081 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs529504687 | 1082 | E>K | No | Ensembl | |
| rs2146339758 | 1083 | E>V | No | Ensembl | |
| rs1178789950 | 1088 | A>T | No |
TOPMed gnomAD |
|
| rs781510274 | 1088 | A>V | No |
ExAC gnomAD |
|
| rs2016795712 | 1089 | L>R | No |
TOPMed gnomAD |
|
| rs1176433838 | 1090 | A>D | No | gnomAD | |
| rs757376268 | 1090 | A>S | No |
ExAC gnomAD |
|
| rs1171062797 | 1091 | R>G | No | TOPMed | |
| rs758742337 | 1091 | R>S | No |
ExAC gnomAD |
|
| rs1314994311 | 1092 | V>A | No | gnomAD | |
| rs1314994311 | 1092 | V>G | No | gnomAD | |
| rs748470952 | 1092 | V>M | No |
ExAC gnomAD |
|
| rs1200330335 | 1094 | E>D | No | TOPMed | |
| rs755381871 | 1096 | A>V | No |
ExAC gnomAD |
|
| rs766927990 | 1097 | A>D | No |
ExAC gnomAD |
|
| rs1569535033 | 1097 | A>S | No | Ensembl | |
| rs1569535030 | 1098 | Q>R | No | Ensembl | |
| rs1162561119 | 1101 | M>I | No | gnomAD | |
| rs2016777605 | 1101 | M>V | No | Ensembl | |
| rs1173949966 | 1102 | A>V | No |
TOPMed gnomAD |
|
| rs1358412751 | 1104 | K>R | No | TOPMed | |
| rs757024922 | 1106 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1456021815 | 1106 | I>V | No | gnomAD | |
| rs1164923293 | 1107 | R>W | No |
TOPMed gnomAD |
|
| rs1261023056 | 1108 | E>A | No |
TOPMed gnomAD |
|
| rs1261023056 | 1108 | E>G | No |
TOPMed gnomAD |
|
| rs1036053672 | 1108 | E>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 1111 | S>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016776916 | 1112 | Q>H | No | Ensembl | |
| COSM3842602 | 1114 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3553944 | 1115 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1603482952 | 1116 | L>F | No | Ensembl | |
| rs2016776654 | 1117 | Q>K | No | TOPMed | |
| rs2016776459 | 1121 | E>D | No |
TOPMed gnomAD |
|
| rs2016776511 | 1121 | E>G | No | gnomAD | |
| rs1207813150 | 1124 | R>C | No | gnomAD | |
| rs759328593 | 1126 | S>C | No |
ExAC gnomAD |
|
| rs2146338715 | 1128 | N>D | No | Ensembl | |
| rs747282820 | 1131 | E>D | No |
ExAC gnomAD |
|
| rs1341552420 | 1132 | K>R | No | gnomAD | |
| rs200604312 | 1134 | K>Q | No |
ExAC gnomAD |
|
| rs2016775839 | 1135 | R>Q | No |
TOPMed gnomAD |
|
| rs2016775889 | 1135 | R>W | No | Ensembl | |
| rs2016775758 | 1138 | G>E | No | Ensembl | |
| TCGA novel | 1142 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2146338688 | 1143 | A>S | No | Ensembl | |
| rs769272157 | 1146 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs543021127 | 1146 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM4832758 | 1150 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2016774992 | 1152 | L>M | No | Ensembl | |
| rs1457384793 | 1153 | D>E | No | gnomAD | |
| rs1210601633 | 1153 | D>N | No | gnomAD | |
| rs924002732 | 1154 | S>F | No |
TOPMed gnomAD |
|
| TCGA novel | 1157 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016774645 | 1160 | E>D | No | Ensembl | |
| rs1569535022 | 1161 | L>H | No | Ensembl | |
| rs777594273 | 1162 | R>K | No |
ExAC gnomAD |
|
| rs551271617 | 1163 | S>A | No |
1000Genomes ExAC gnomAD |
|
| rs920153200 | 1168 | E>G | No | Ensembl | |
| rs972902024 | 1170 | N>D | No | Ensembl | |
| rs774401980 | 1171 | I>M | No |
ExAC gnomAD |
|
| rs1362302544 | 1174 | K>E | No | gnomAD | |
| rs2016767217 | 1175 | T>A | No |
TOPMed gnomAD |
|
| rs531661503 | 1177 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs2146338233 | 1177 | E>Q | No | Ensembl | |
| rs1351881642 | 1178 | E>K | No |
TOPMed gnomAD |
|
| rs1351881642 | 1178 | E>Q | No |
TOPMed gnomAD |
|
| rs1287737856 | 1180 | A>S | No | gnomAD | |
| rs1279964083 | 1181 | K>R | No | TOPMed | |
| rs1355075179 | 1182 | T>I | No | gnomAD | |
| rs1281960330 | 1184 | E>K | No | gnomAD | |
| rs199800916 | 1185 | A>G | No |
1000Genomes TOPMed gnomAD |
|
| rs994672511 | 1185 | A>S | No | TOPMed | |
| rs199800916 | 1185 | A>V | No |
1000Genomes TOPMed gnomAD |
|
|
rs2016766439 RCV001772544 |
1188 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs1397918124 | 1194 | H>Q | No | gnomAD | |
| COSM1033841 | 1196 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228197720 | 1196 | Q>E | No |
TOPMed gnomAD |
|
| rs200732002 | 1198 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs200732002 RCV001765865 |
1198 | V>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM726453 | 1199 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1199 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1235014094 | 1200 | E>* | No |
TOPMed gnomAD |
|
| rs1438334482 | 1200 | E>A | No |
TOPMed gnomAD |
|
| rs1178604127 | 1200 | E>D | No |
TOPMed gnomAD |
|
| rs1438334482 | 1200 | E>V | No |
TOPMed gnomAD |
|
|
RCV001787435 rs2146338160 |
1201 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs2016765841 | 1202 | A>T | No | TOPMed | |
| rs2016765696 | 1204 | Q>L | No | TOPMed | |
| rs998865732 | 1205 | L>M | No | TOPMed | |
| COSM1416049 | 1207 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754599035 | 1207 | Q>E | No |
ExAC gnomAD |
|
| rs754599035 | 1207 | Q>K | No |
ExAC gnomAD |
|
|
rs201153545 RCV001984257 |
1208 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2016765254 | 1209 | K>N | No | TOPMed | |
| rs368114068 | 1210 | R>Q | No |
ESP ExAC gnomAD |
|
| rs2016755455 | 1211 | V>L | No | TOPMed | |
| rs1330818840 | 1213 | A>T | No | gnomAD | |
| rs2016755216 | 1216 | E>K | No | gnomAD | |
| rs2016755127 | 1217 | K>T | No | TOPMed | |
| rs373722926 | 1218 | A>G | No |
ESP TOPMed gnomAD |
|
| rs373722926 | 1218 | A>V | No |
ESP TOPMed gnomAD |
|
| rs2146337542 | 1219 | K>R | No | Ensembl | |
| rs1255970455 | 1220 | Q>H | No |
TOPMed gnomAD |
|
| rs766799761 | 1220 | Q>L | No |
ExAC gnomAD |
|
| rs2016754898 | 1221 | T>A | No | gnomAD | |
| COSM3553942 | 1223 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773790950 | 1223 | E>K | No |
ExAC gnomAD |
|
| rs148258578 | 1224 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770864107 | 1225 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001576446 rs375797448 |
1226 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1168956728 | 1227 | G>E | No | TOPMed | |
| rs746956415 | 1228 | E>Q | No |
ExAC TOPMed gnomAD |
|
| COSM3149605 | 1228 | E>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2146337505 RCV001815913 |
1228 | E>V | No |
ClinVar Ensembl dbSNP |
|
| rs1037740278 | 1230 | A>T | No |
TOPMed gnomAD |
|
| rs924979347 | 1231 | N>S | No | Ensembl | |
| rs1308791415 | 1232 | E>D | No | gnomAD | |
|
rs1569534975 RCV000722495 |
1232 | E>K | No |
ClinVar Ensembl dbSNP |
|
|
RCV001576607 CA10209590 RCV000213533 rs542791128 |
1233 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2016753923 | 1234 | K>Q | No | Ensembl | |
| rs2016753629 | 1241 | G>A | No | Ensembl | |
| rs1406322860 | 1242 | D>N | No | gnomAD | |
| rs1441031662 | 1245 | H>Y | No | gnomAD | |
| rs2016753179 | 1246 | K>R | No | gnomAD | |
| rs767868271 | 1247 | R>H | No |
ExAC gnomAD |
|
| rs1211412402 | 1248 | K>N | No | gnomAD | |
| rs776779785 | 1250 | V>A | No | gnomAD | |
| rs774921084 | 1250 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs774921084 | 1250 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs769439120 | 1252 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs759187934 | 1252 | A>V | No |
ExAC TOPMed gnomAD |
|
| COSM726454 | 1253 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1156748427 | 1257 | L>V | No | gnomAD | |
| rs977273457 | 1258 | Q>R | No |
TOPMed gnomAD |
|
| rs1415797822 | 1259 | V>G | No | gnomAD | |
| rs2016752150 | 1260 | K>R | No | TOPMed | |
| rs777798216 | 1262 | N>D | No |
ExAC gnomAD |
|
| rs138270050 | 1262 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs192365600 | 1262 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs138270050 | 1262 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2016751897 | 1263 | E>D | No | TOPMed | |
| rs1163525582 | 1263 | E>K | No |
TOPMed gnomAD |
|
| rs1421535397 | 1264 | G>E | No | gnomAD | |
| rs969169357 | 1264 | G>R | No | TOPMed | |
| rs2016751756 | 1265 | E>K | No | Ensembl | |
| rs755308451 | 1266 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs375738970 COSM1416048 RCV001765734 |
1266 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs755308451 | 1266 | R>S | No |
ExAC TOPMed gnomAD |
|
|
COSM4103824 rs756528783 |
1267 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs750701311 | 1268 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs768022369 COSM4103823 |
1268 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs768022369 | 1268 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs1244168341 | 1269 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1319942790 | 1269 | T>I | No | gnomAD | |
| rs2016751210 | 1271 | L>R | No | Ensembl | |
| rs562063811 | 1272 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1234398262 | 1272 | A>V | No | gnomAD | |
| rs147031322 | 1273 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs776320326 | 1274 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1276440350 | 1276 | T>A | No |
TOPMed gnomAD |
|
| rs1276440350 | 1276 | T>P | No |
TOPMed gnomAD |
|
| rs1365379816 | 1279 | Q>R | No |
TOPMed gnomAD |
|
| rs1603482915 | 1280 | V>G | No | Ensembl | |
| rs141582478 | 1280 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768666026 | 1282 | L>V | No |
ExAC gnomAD |
|
| rs1316452838 | 1284 | N>D | No | TOPMed | |
| rs749399694 | 1284 | N>S | No |
ExAC gnomAD |
|
| rs770119352 | 1285 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs781586533 COSM3553940 |
1287 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1289 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1174428350 | 1290 | S>G | No | gnomAD | |
| rs757588156 | 1290 | S>N | No |
ExAC gnomAD |
|
| rs758776969 | 1293 | D>E | No |
ExAC gnomAD |
|
| rs778278736 | 1293 | D>H | No |
ExAC gnomAD |
|
| COSM1416047 | 1294 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750947814 | 1295 | K>N | No |
ExAC gnomAD |
|
| rs1350431268 | 1296 | S>T | No | gnomAD | |
| rs866606224 | 1296 | S>Y | No |
TOPMed gnomAD |
|
| rs2016744584 | 1297 | S>G | No | Ensembl | |
| rs779428678 | 1297 | S>I | No |
ExAC TOPMed gnomAD |
|
|
rs779428678 RCV001959291 |
1297 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1351011634 | 1297 | S>R | No | gnomAD | |
| rs755837040 | 1298 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1042102058 | 1298 | K>R | No | Ensembl | |
| rs1339876100 | 1300 | T>A | No | gnomAD | |
| rs1264986897 | 1301 | K>E | No |
TOPMed gnomAD |
|
| rs1375778244 | 1302 | D>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1302 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs951591806 | 1302 | D>Y | No | TOPMed | |
| rs1313746800 | 1303 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs371416304 | 1304 | S>F | No | ESP | |
| rs141904682 | 1305 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs372780340 | 1305 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV002287141 COSM1416045 rs141904682 |
1305 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1368404364 | 1308 | S>F | No | gnomAD | |
| rs1025888183 | 1313 | T>I | No |
TOPMed gnomAD |
|
| rs2016743402 | 1314 | Q>E | No |
TOPMed gnomAD |
|
| rs2016738597 | 1316 | L>Q | No | Ensembl | |
| rs1950187262 | 1318 | Q>E | No |
TOPMed gnomAD |
|
| rs1950187262 | 1318 | Q>K | No |
TOPMed gnomAD |
|
| rs1395865423 | 1319 | E>A | No | gnomAD | |
| COSM444936 | 1320 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM262226 | 1320 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1408599841 | 1320 | E>G | No | gnomAD | |
| rs2016738377 | 1321 | N>S | No | Ensembl | |
| rs1477519000 | 1322 | R>Q | No | gnomAD | |
| rs937625252 | 1323 | Q>R | No |
TOPMed gnomAD |
|
| rs2016737926 | 1330 | K>E | No | gnomAD | |
| rs745376621 | 1332 | K>Q | No |
ExAC gnomAD |
|
|
rs1038334022 RCV001002205 COSM4103822 RCV002549173 |
1337 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| COSM6161836 | 1340 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA411384663 rs1131691639 RCV000494660 |
1341 | F>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA10209486 RCV000597934 rs147901502 |
1342 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765101192 COSM419570 |
1347 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 1348 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2146336581 RCV001763339 |
1348 | E>D | No |
ClinVar Ensembl dbSNP |
|
| rs754846885 | 1349 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2016737159 | 1350 | E>G | No | TOPMed | |
| rs766437086 | 1351 | A>G | No | ExAC | |
| rs1175064006 | 1351 | A>T | No | gnomAD | |
| rs760925312 | 1352 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs983004645 | 1356 | E>K | No | Ensembl | |
| rs569649580 | 1360 | A>S | No |
TOPMed gnomAD |
|
|
rs569649580 COSM3405643 |
1360 | A>T | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2016736474 | 1361 | T>S | No | TOPMed | |
| rs1278490017 | 1362 | L>F | No |
TOPMed gnomAD |
|
| rs1603482903 | 1363 | H>L | No |
TOPMed gnomAD |
|
| rs1603482903 | 1363 | H>R | No |
TOPMed gnomAD |
|
| rs1238726807 | 1363 | H>Y | No | TOPMed | |
| rs2016736213 | 1365 | Q>R | No |
TOPMed gnomAD |
|
| rs1415779926 | 1366 | V>M | No |
TOPMed gnomAD |
|
| rs774636106 | 1367 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs774636106 | 1367 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs776174061 | 1368 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs776174061 | 1368 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs2016717616 | 1369 | M>K | No | Ensembl | |
| rs368982363 | 1369 | M>V | No |
ESP TOPMed gnomAD |
|
| rs770377517 | 1371 | K>E | No |
ExAC gnomAD |
|
| rs1695285420 | 1371 | K>N | No |
TOPMed gnomAD |
|
|
COSM1258484 rs1419920797 |
1371 | K>R | oesophagus [Cosmic] | No |
cosmic curated gnomAD |
| rs200894704 | 1373 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1216109956 | 1373 | M>V | No |
TOPMed gnomAD |
|
| rs202033925 | 1375 | D>H | No |
1000Genomes ExAC gnomAD |
|
| COSM1033840 | 1376 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1184951793 | 1376 | S>T | No |
TOPMed gnomAD |
|
| rs778732146 | 1378 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs768412470 | 1379 | C>Y | No |
ExAC gnomAD |
|
| rs574458172 | 1381 | E>A | No |
1000Genomes ExAC gnomAD |
|
| rs574458172 | 1381 | E>G | No |
1000Genomes ExAC gnomAD |
|
| rs779975795 | 1382 | T>A | No |
ExAC gnomAD |
|
| rs1234301791 | 1383 | A>V | No | gnomAD | |
| rs750534869 | 1385 | E>G | No |
ExAC gnomAD |
|
| rs1175227715 | 1385 | E>K | No | TOPMed | |
| rs781318252 | 1386 | V>A | No |
ExAC gnomAD |
|
|
TCGA novel rs2016716622 |
1386 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs757468108 | 1388 | R>W | No |
ExAC gnomAD |
|
| COSM1327248 | 1389 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs534834747 | 1393 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| rs1371089733 | 1398 | S>R | No | gnomAD | |
|
RCV001884437 rs2146335439 |
1399 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs771591274 | 1400 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs771591274 | 1400 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs539186034 | 1401 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs116972183 | 1401 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439574314 COSM1033839 |
1402 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1255465286 | 1405 | V>M | No | gnomAD | |
| rs199639878 | 1407 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199639878 | 1407 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1416044 | 1407 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2146335390 | 1408 | Y>C | No | Ensembl | |
| rs1271789474 | 1408 | Y>H | No |
TOPMed gnomAD |
|
| rs2016715289 | 1409 | D>E | No | TOPMed | |
| TCGA novel | 1409 | D>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1438096415 | 1413 | K>R | No | gnomAD | |
| rs1603482880 | 1415 | K>R | No | Ensembl | |
| rs758626716 | 1416 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs1394231995 | 1417 | R>W | No | gnomAD | |
| rs1169499284 | 1418 | L>M | No | gnomAD | |
| rs200510675 | 1420 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200510675 | 1420 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1182960625 | 1420 | Q>R | No |
TOPMed gnomAD |
|
| rs146401386 | 1423 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
|
rs867593888 RCV001817872 |
1424 | D>V | No |
ClinVar Ensembl dbSNP |
|
| rs766759099 | 1425 | L>R | No |
ExAC gnomAD |
|
| rs1307019542 | 1428 | D>E | No | TOPMed | |
| rs1020928181 | 1429 | L>Q | No | Ensembl | |
| rs1249032059 | 1430 | D>G | No | gnomAD | |
| rs1437823700 | 1430 | D>H | No |
TOPMed gnomAD |
|
| rs1375723216 | 1432 | Q>E | No |
TOPMed gnomAD |
|
| rs530533580 | 1433 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000730503 rs1569534912 |
1435 | S>G | No |
ClinVar Ensembl dbSNP |
|
| rs2146335288 | 1435 | S>N | No | Ensembl | |
| rs1303570125 | 1436 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 1440 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1822173140 | 1441 | K>R | No | TOPMed | |
| TCGA novel | 1442 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM339767 | 1442 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776653786 | 1442 | K>R | No |
ExAC gnomAD |
|
| rs983612310 | 1443 | Q>E | No | Ensembl | |
| rs747090249 | 1444 | K>Q | No |
ExAC gnomAD |
|
| rs777996929 | 1444 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1486787362 | 1445 | K>* | No | TOPMed | |
| rs748363414 | 1445 | K>M | No |
ExAC TOPMed gnomAD |
|
|
COSM3149582 rs889313598 |
1445 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs748363414 | 1445 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1569534911 | 1448 | Q>E | No | Ensembl | |
| rs759107183 | 1451 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs781047584 | 1453 | E>Q | No | Ensembl | |
| rs1163341884 | 1455 | T>A | No | gnomAD | |
| rs1454757514 | 1455 | T>N | No |
TOPMed gnomAD |
|
| rs1463372716 | 1456 | I>L | No | gnomAD | |
| rs760738611 | 1456 | I>M | No |
ExAC gnomAD |
|
| rs2016645470 | 1458 | A>V | No | Ensembl | |
| rs1335054853 | 1459 | K>N | No |
TOPMed gnomAD |
|
| rs2016645420 | 1459 | K>T | No | TOPMed | |
| rs1474253385 | 1463 | E>K | No | gnomAD | |
| rs772088544 | 1464 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs2146332224 | 1465 | D>E | No | Ensembl | |
| rs201248264 | 1465 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs780507039 | 1466 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs970919478 | 1467 | A>P | No |
TOPMed gnomAD |
|
| rs970919478 | 1467 | A>S | No |
TOPMed gnomAD |
|
| rs970919478 | 1467 | A>T | No |
TOPMed gnomAD |
|
| rs1337772877 | 1469 | A>S | No | gnomAD | |
| rs557967677 | 1469 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2016644362 | 1471 | A>T | No | TOPMed | |
| rs746179857 | 1472 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs781672785 | 1474 | K>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1475 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757694730 | 1475 | E>D | No |
ExAC gnomAD |
|
| rs2016644103 | 1476 | T>S | No | gnomAD | |
| rs2016644004 | 1477 | K>R | No | gnomAD | |
|
rs1244289150 COSM3740408 |
1480 | S>L | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2016643727 | 1481 | L>V | No | Ensembl | |
| rs1603482804 | 1482 | A>V | No | Ensembl | |
|
RCV000151328 rs727503285 COSM1239521 CA177084 RCV002516038 |
1483 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001987049 rs368105628 COSM1033838 |
1483 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1232230216 | 1484 | A>G | No |
TOPMed gnomAD |
|
| rs1468906391 | 1484 | A>T | No | gnomAD | |
| rs2016643128 | 1488 | A>T | No | Ensembl | |
| rs1229463076 | 1489 | M>I | No | gnomAD | |
| rs1301411308 | 1491 | Q>E | No | gnomAD | |
| rs2146332103 | 1491 | Q>L | No | Ensembl | |
| rs371535403 | 1493 | A>E | No |
TOPMed gnomAD |
|
| rs371535403 | 1493 | A>G | No |
TOPMed gnomAD |
|
| rs528995647 | 1493 | A>T | No | Ensembl | |
| rs371535403 | 1493 | A>V | No |
TOPMed gnomAD |
|
| rs761638071 | 1496 | E>A | No |
ExAC gnomAD |
|
| rs1356604260 | 1496 | E>Q | No | gnomAD | |
| rs1373228814 | 1497 | R>Q | No | gnomAD | |
| rs1433769117 | 1497 | R>W | No |
TOPMed gnomAD |
|
| rs1175047471 | 1498 | L>F | No | gnomAD | |
| rs962270462 | 1499 | N>S | No |
TOPMed gnomAD |
|
| rs2016642123 | 1502 | F>L | No |
TOPMed gnomAD |
|
| rs138561532 | 1503 | R>C | No |
ESP TOPMed gnomAD |
|
| rs549408311 | 1503 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs549408311 | 1503 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1216261 rs1008768980 |
1504 | T>A | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
|
RCV002161367 rs150565890 |
1504 | T>M | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs566978904 | 1507 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000852129 rs566978904 |
1507 | E>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2146332047 | 1507 | E>V | No | Ensembl | |
| rs2146332041 | 1508 | D>E | No | Ensembl | |
| rs2146332043 | 1508 | D>Y | No | Ensembl | |
| rs775597341 | 1509 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs775597341 | 1509 | L>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1510 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2146332035 | 1510 | M>L | No | Ensembl | |
| rs1213125378 | 1511 | S>N | No | gnomAD | |
| COSM1033837 | 1512 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2016641401 | 1513 | K>R | No |
TOPMed gnomAD |
|
|
RCV001820343 rs1445705225 |
1514 | D>E | No |
ClinVar TOPMed dbSNP |
|
| rs2016641278 | 1514 | D>N | No | TOPMed | |
| rs141750518 | 1515 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1050206901 | 1516 | V>A | No | Ensembl | |
| rs1050206901 | 1516 | V>G | No | Ensembl | |
| rs11549907 | 1521 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2016637668 COSM1033836 |
1522 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs771169790 | 1524 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs747362893 | 1525 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2016637406 | 1527 | K>R | No | gnomAD | |
| rs772577695 | 1528 | R>Q | No |
ExAC gnomAD |
|
| rs201405521 | 1528 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2016637181 | 1529 | A>V | No | Ensembl | |
| COSM1484205 | 1531 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1243250029 | 1531 | E>D | No |
TOPMed gnomAD |
|
| rs2146331812 | 1531 | E>K | No | Ensembl | |
| COSM1416043 | 1531 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1532 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779694122 | 1533 | Q>K | No |
ExAC TOPMed gnomAD |
|
|
rs876657892 RCV000216927 CA10577134 |
1533 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1603482798 | 1534 | V>G | No | Ensembl | |
| rs11549909 | 1534 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs11549909 | 1534 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs745483956 | 1535 | E>D | No |
ExAC gnomAD |
|
| rs902539406 | 1535 | E>K | No |
TOPMed gnomAD |
|
| rs1267666166 | 1536 | E>G | No | gnomAD | |
| TCGA novel | 1536 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1197634892 | 1537 | M>V | No |
TOPMed gnomAD |
|
| rs772323929 | 1539 | T>K | No |
ExAC TOPMed gnomAD |
|
|
rs772323929 COSM331234 |
1539 | T>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2016636175 | 1542 | E>G | No | gnomAD | |
| rs1365242818 | 1542 | E>Q | No | gnomAD | |
| TCGA novel | 1543 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752832018 | 1547 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1556630000 | 1547 | E>K | No | gnomAD | |
|
rs1556630000 RCV000657987 |
1547 | E>Q | No |
ClinVar dbSNP gnomAD |
|
| rs2016635929 | 1549 | Q>L | No | Ensembl | |
| rs895376250 | 1550 | A>T | No | Ensembl | |
| rs2016635648 | 1552 | E>A | No | TOPMed | |
| rs537998194 | 1552 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1603482796 | 1553 | D>V | No | Ensembl | |
|
RCV001988983 rs373393111 COSM4103819 |
1557 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 1557 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1247241621 | 1557 | R>W | No | gnomAD | |
|
RCV001821395 CA16621118 rs1064794326 RCV000483533 |
1560 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs759789202 | 1560 | V>I | No | Ensembl | |
| rs920078886 | 1563 | Q>R | No | Ensembl | |
| rs774387771 | 1565 | M>L | No |
TOPMed gnomAD |
|
| rs748639460 | 1565 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs748639460 | 1565 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs774387771 | 1565 | M>V | No |
TOPMed gnomAD |
|
| rs1308621735 | 1569 | F>I | No | TOPMed | |
| rs576697687 | 1569 | F>L | No |
1000Genomes TOPMed gnomAD |
|
| rs1249288389 | 1570 | E>K | No |
TOPMed gnomAD |
|
| rs1569534805 | 1571 | R>Q | No | gnomAD | |
| rs775178209 | 1571 | R>W | No |
ExAC TOPMed gnomAD |
|
| COSM4103818 | 1573 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769457174 | 1573 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs143269195 | 1576 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs199722926 | 1576 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1394018862 | 1577 | D>N | No | gnomAD | |
| rs1299645320 | 1577 | D>V | No | gnomAD | |
| rs777612180 | 1578 | E>K | No |
ExAC gnomAD |
|
| rs1179926547 | 1579 | Q>E | No |
TOPMed gnomAD |
|
|
RCV001752161 rs566790184 |
1581 | E>K | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2016633422 | 1582 | E>G | No | gnomAD | |
| rs1418977738 | 1583 | K>N | No |
TOPMed gnomAD |
|
| rs149169068 | 1585 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1408685006 | 1586 | Q>K | No | gnomAD | |
| rs2016633071 | 1586 | Q>R | No | Ensembl | |
| rs1420833291 | 1589 | R>G | No | TOPMed | |
| rs1208119638 | 1590 | Q>R | No | gnomAD | |
|
rs2146331302 RCV001786692 |
1591 | V>L | No |
ClinVar Ensembl dbSNP |
|
| rs1387108152 | 1592 | R>Q | No | gnomAD | |
| rs1381655090 | 1592 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM4932511 | 1593 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1319329696 | 1594 | M>I | No |
TOPMed gnomAD |
|
| rs753988644 | 1594 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1458125730 | 1594 | M>R | No | gnomAD | |
| rs1458125730 | 1594 | M>T | No | gnomAD | |
| rs540220521 | 1595 | E>D | No | 1000Genomes | |
| rs1417648620 | 1596 | A>G | No | gnomAD | |
|
rs1163205030 RCV001763730 |
1598 | L>M | No |
ClinVar dbSNP gnomAD |
|
| rs2016626216 | 1598 | L>R | No | TOPMed | |
|
rs781661570 RCV001979877 |
1599 | E>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1368617269 | 1600 | D>N | No | gnomAD | |
| COSM461110 | 1601 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1444725413 | 1601 | E>A | No | gnomAD | |
| rs1403243957 | 1601 | E>K | No | Ensembl | |
| rs1249850232 | 1602 | R>K | No | gnomAD | |
| rs1235479005 | 1602 | R>S | No |
TOPMed gnomAD |
|
| rs1467956956 | 1605 | R>C | No |
TOPMed gnomAD |
|
| rs2016625697 | 1605 | R>H | No | TOPMed | |
| COSM726456 | 1605 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1603482788 | 1608 | A>V | No | Ensembl | |
| rs762280347 | 1609 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2016625364 | 1610 | A>G | No | TOPMed | |
| TCGA novel | 1610 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150029980 | 1611 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV002056076 RCV000155180 CA182321 rs150029980 |
1611 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs959398547 | 1612 | R>Q | No |
TOPMed gnomAD |
|
| rs1340737753 | 1612 | R>W | No | gnomAD | |
| rs1322606616 | 1615 | L>M | No | gnomAD | |
| rs760064629 | 1616 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs772942510 | 1617 | M>V | No |
ExAC gnomAD |
|
| rs1407374239 | 1618 | D>V | No | gnomAD | |
|
rs771657500 COSM171855 |
1618 | D>Y | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA gnomAD |
| rs778679056 | 1619 | L>M | No |
ExAC gnomAD |
|
| rs1166914282 | 1620 | K>R | No | gnomAD | |
| rs2016624590 | 1621 | D>N | No | TOPMed | |
| COSM4998085 | 1623 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1391531785 | 1624 | A>V | No |
TOPMed gnomAD |
|
| rs1331000345 | 1625 | H>P | No | TOPMed | |
| rs756236810 | 1627 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1451917771 | 1628 | S>A | No | gnomAD | |
| rs1004304191 | 1629 | A>S | No | Ensembl | |
| rs2016623550 | 1630 | N>S | No | gnomAD | |
| rs752028844 | 1633 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1569534790 | 1634 | D>G | No | Ensembl | |
|
COSM3149568 rs1439083724 |
1635 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs753280815 | 1637 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs765615821 | 1638 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1569534788 | 1640 | L>V | No | Ensembl | |
| rs2016622737 | 1641 | R>W | No |
TOPMed gnomAD |
|
| rs727504669 | 1643 | L>V | No |
TOPMed gnomAD |
|
| rs2016622609 | 1644 | Q>* | No | gnomAD | |
| rs2016594002 | 1647 | M>T | No | TOPMed | |
| rs1411816755 | 1649 | D>E | No |
TOPMed gnomAD |
|
| rs758485116 | 1650 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1452965691 | 1651 | M>I | No |
TOPMed gnomAD |
|
|
COSM4103816 rs1247989971 |
1652 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs780486984 | 1653 | E>G | No |
ExAC gnomAD |
|
| rs375322236 | 1653 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs375322236 | 1653 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| COSM4842779 | 1654 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228426500 | 1655 | D>G | No |
TOPMed gnomAD |
|
| rs751002241 | 1655 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs751002241 RCV000657996 |
1655 | D>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1228426500 COSM4164929 |
1655 | D>V | kidney [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
rs763871537 COSM1741743 |
1656 | D>N | urinary_tract [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs752423809 | 1657 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs752423809 | 1657 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs752423809 | 1657 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs375515914 | 1658 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs375515914 | 1658 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs371410108 COSM1416040 |
1659 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs760844584 | 1661 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs760844584 | 1661 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4299130 rs773424441 |
1661 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs772398702 | 1663 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs377635445 | 1664 | I>F | No |
ESP ExAC gnomAD |
|
| rs1249120328 | 1666 | A>V | No |
TOPMed gnomAD |
|
| rs953819948 | 1667 | Q>R | No |
TOPMed gnomAD |
|
| rs367872152 | 1671 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs780540448 | 1672 | E>D | No |
ExAC gnomAD |
|
| rs751126110 | 1674 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs777123889 | 1675 | L>V | No | ExAC | |
| rs1384893810 | 1677 | S>N | No | gnomAD | |
| rs901232499 | 1678 | M>L | No | TOPMed | |
| rs752323799 | 1678 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs113188836 | 1679 | E>G | No | Ensembl | |
| rs1213429367 | 1681 | E>D | No | TOPMed | |
| rs1370183447 | 1681 | E>G | No | gnomAD | |
| rs1458660141 | 1681 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1166802611 | 1682 | M>I | No |
TOPMed gnomAD |
|
| rs2016589702 | 1682 | M>V | No | Ensembl | |
| rs2016589518 | 1683 | I>T | No |
TOPMed gnomAD |
|
| rs1476506044 | 1684 | Q>R | No |
TOPMed gnomAD |
|
| rs942752629 | 1685 | L>S | No | Ensembl | |
| rs759419549 | 1686 | Q>E | No |
ExAC gnomAD |
|
|
TCGA novel rs753622711 |
1686 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs766492630 | 1687 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1176044018 | 1687 | E>K | No | TOPMed | |
| rs766242101 | 1688 | E>G | No | ExAC | |
| rs1326861970 | 1690 | A>S | No | gnomAD | |
| rs756166401 | 1690 | A>V | No |
ExAC gnomAD |
|
| rs2146328864 | 1691 | A>P | No | Ensembl | |
| rs1447964555 | 1691 | A>V | No |
TOPMed gnomAD |
|
|
COSM3149560 rs558195536 |
1692 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2146328844 | 1693 | E>K | No | Ensembl | |
| rs142904663 | 1694 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs538330756 | 1694 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs142904663 | 1694 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs184358592 | 1695 | A>V | No | 1000Genomes | |
|
COSM1416039 rs372871106 |
1697 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs746191750 | 1697 | R>H | No |
ExAC gnomAD |
|
| rs777009050 | 1699 | A>S | No |
ExAC gnomAD |
|
| rs777009050 | 1699 | A>T | No |
ExAC gnomAD |
|
|
rs2016572846 RCV001225591 |
1700 | Q>H | No |
ClinVar Ensembl dbSNP |
|
| rs1603482733 | 1700 | Q>R | No | Ensembl | |
| rs2016572806 | 1701 | Q>R | No |
TOPMed gnomAD |
|
|
RCV000156181 RCV001785481 CA184333 rs569541375 |
1703 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1455486202 | 1704 | D>G | No | TOPMed | |
| rs2146328803 | 1704 | D>H | No | Ensembl | |
| rs2016572466 | 1707 | A>S | No | Ensembl | |
| TCGA novel | 1708 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351689578 | 1709 | E>K | No | gnomAD | |
| rs770437113 | 1710 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs757217190 | 1711 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs757217190 | 1711 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs751632674 | 1712 | N>D | No |
ExAC gnomAD |
|
| rs751632674 | 1712 | N>H | No |
ExAC gnomAD |
|
| rs985388904 | 1712 | N>S | No |
TOPMed gnomAD |
|
| rs968577844 | 1713 | S>N | No |
TOPMed gnomAD |
|
| rs1389598882 | 1714 | S>G | No | gnomAD | |
| rs1276833575 | 1718 | A>T | No |
TOPMed gnomAD |
|
| rs2146328604 | 1719 | L>V | No | Ensembl | |
| rs745513016 | 1720 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1049266169 | 1720 | A>V | No |
TOPMed gnomAD |
|
| rs2146328596 | 1721 | L>V | No | Ensembl | |
| TCGA novel | 1722 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1345777013 | 1723 | E>D | No |
TOPMed gnomAD |
|
| rs770791825 | 1724 | K>R | No |
ExAC TOPMed gnomAD |
|
|
COSM1416038 rs993895986 RCV000734055 |
1725 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs375070090 | 1726 | R>C | No |
ESP TOPMed |
|
| rs373380499 | 1727 | L>M | No |
ESP TOPMed gnomAD |
|
| rs1430285550 | 1728 | E>G | No | gnomAD | |
|
rs201021615 COSM1190435 CA177066 RCV001575204 RCV000151321 |
1730 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1254152525 | 1730 | R>H | No |
TOPMed gnomAD |
|
| rs1442359956 | 1731 | I>N | No | gnomAD | |
| rs1455485021 | 1732 | A>G | No | Ensembl | |
| rs1050130268 | 1732 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1050130268 | 1732 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM4103815 | 1732 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761101755 | 1734 | L>V | No |
ExAC gnomAD |
|
|
rs2146328519 RCV001562079 |
1735 | E>A | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1735 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867582225 | 1736 | E>D | No | Ensembl | |
|
rs876657893 CA10577132 RCV000214062 |
1742 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| TCGA novel | 1744 | N>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768208950 | 1745 | T>A | No |
ExAC gnomAD |
|
|
RCV002000756 rs545556195 |
1745 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs768208950 | 1745 | T>S | No |
ExAC gnomAD |
|
| rs764827587 | 1746 | E>D | No |
ExAC gnomAD |
|
| rs979268761 | 1748 | I>F | No | TOPMed | |
| rs1156676703 | 1748 | I>T | No | gnomAD | |
| rs776352474 | 1750 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs776352474 | 1750 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs746864370 | 1751 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs746864370 | 1751 | R>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1753 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1228082998 | 1756 | N>S | No | TOPMed | |
| rs1228082998 | 1756 | N>T | No | TOPMed | |
| rs778663396 | 1757 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs183105164 | 1759 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1026560650 | 1760 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM1308121 rs779971012 |
1765 | D>N | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs966637024 | 1767 | N>K | No | gnomAD | |
| rs1603482713 | 1767 | N>T | No | Ensembl | |
| rs746118702 | 1770 | R>H | No |
ExAC TOPMed gnomAD |
|
|
RCV001770617 rs746118702 |
1770 | R>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2146328106 | 1771 | S>R | No | Ensembl | |
| rs2146328099 | 1772 | H>P | No | Ensembl | |
| rs190450967 | 1773 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs190450967 | 1773 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2016561023 | 1773 | A>V | No | TOPMed | |
| rs1443684692 | 1774 | Q>R | No | TOPMed | |
| rs764719958 | 1776 | N>K | No |
ExAC TOPMed gnomAD |
|
|
rs758825898 COSM1258485 |
1777 | E>K | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| rs758825898 | 1777 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1271830093 | 1778 | N>S | No |
TOPMed gnomAD |
|
| rs1271830093 | 1778 | N>T | No |
TOPMed gnomAD |
|
| rs547342920 | 1779 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2146328063 | 1779 | A>S | No | Ensembl | |
| rs547342920 | 1779 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001874343 rs2146328050 |
1780 | R>missing | No |
ClinVar dbSNP |
|
| rs760128307 | 1780 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs760128307 | 1780 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs767085768 | 1784 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs761606303 | 1785 | R>C | No |
ExAC gnomAD |
|
| rs774015925 | 1785 | R>H | No |
ExAC TOPMed gnomAD |
|
|
rs774015925 RCV000723116 |
1785 | R>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs768683494 | 1786 | Q>H | No |
ExAC gnomAD |
|
| rs201463106 | 1787 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1818676655 | 1787 | N>S | No | TOPMed | |
|
rs775451903 RCV001774400 |
1788 | K>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1374075151 | 1790 | L>H | No | gnomAD | |
| rs1431863120 | 1795 | Q>* | No |
TOPMed gnomAD |
|
| rs745879035 | 1795 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs771266540 | 1799 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1196963679 | 1800 | T>P | No | gnomAD | |
| rs2016559057 | 1802 | K>R | No | TOPMed | |
| rs777968148 | 1805 | Y>C | No |
ExAC gnomAD |
|
| rs1283662976 | 1806 | K>R | No | gnomAD | |
| rs758992217 | 1807 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1181032318 | 1808 | S>P | No |
TOPMed gnomAD |
|
| rs779350077 | 1810 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1393158636 | 1810 | T>I | No | gnomAD | |
| rs779350077 | 1810 | T>P | No |
ExAC TOPMed gnomAD |
|
|
RCV002014689 rs1302814429 |
1811 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs761427754 | 1813 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs761427754 | 1813 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs751423187 | 1814 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1177594750 | 1814 | A>S | No | gnomAD | |
| rs751423187 | 1814 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs763821179 | 1815 | K>N | No |
ExAC gnomAD |
|
| rs1045546652 | 1816 | I>M | No |
TOPMed gnomAD |
|
| rs2146327936 | 1816 | I>S | No | Ensembl | |
| COSM5028806 | 1820 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1880999374 | 1820 | E>V | No | Ensembl | |
| rs1314576202 | 1821 | E>G | No |
TOPMed gnomAD |
|
| rs1398061733 | 1822 | Q>R | No |
TOPMed gnomAD |
|
| rs376154206 | 1824 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1294169279 | 1825 | N>D | No | TOPMed | |
| rs747177367 | 1825 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1207813513 | 1825 | N>S | No | gnomAD | |
| rs1246675242 | 1826 | E>K | No |
TOPMed gnomAD |
|
| rs2016546541 | 1830 | R>C | No |
TOPMed gnomAD |
|
| rs966415372 | 1830 | R>L | No |
TOPMed gnomAD |
|
|
rs2146327221 RCV001770928 |
1830 | R>L | No |
ClinVar Ensembl dbSNP |
|
| rs971112582 | 1831 | Q>* | No | Ensembl | |
| rs1603482700 | 1831 | Q>R | No | Ensembl | |
| rs2016546295 | 1832 | A>T | No | TOPMed | |
| rs1733890216 | 1833 | A>V | No |
TOPMed gnomAD |
|
| rs766271245 | 1836 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1361735292 | 1836 | Q>R | No | gnomAD | |
| rs1228388790 | 1837 | V>M | No | gnomAD | |
|
rs1272298108 COSM3149546 |
1838 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1228543932 RCV001763796 |
1838 | R>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs760681627 | 1839 | R>Q | No |
ExAC gnomAD |
|
|
COSM302709 rs1330177690 |
1839 | R>W | central_nervous_system [Cosmic] | No |
cosmic curated gnomAD |
| rs1406367468 | 1840 | T>I | No | gnomAD | |
| rs773325666 | 1841 | E>D | No |
ExAC gnomAD |
|
| rs1421499073 | 1844 | L>M | No | gnomAD | |
| rs1433454439 | 1845 | K>R | No | TOPMed | |
| COSM1416037 | 1849 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1851 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2016545150 | 1852 | D>N | No |
TOPMed gnomAD |
|
|
RCV003238513 rs2146327153 |
1852 | D>V | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1853 | D>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269778199 | 1854 | E>K | No | gnomAD | |
|
rs746568745 RCV001532463 |
1855 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs1196851918 | 1856 | R>K | No | gnomAD | |
| rs1438662105 | 1857 | N>I | No |
TOPMed gnomAD |
|
| rs758034745 | 1858 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs759956261 | 1859 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs759956261 | 1859 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs958590413 | 1860 | Q>R | No | Ensembl | |
| COSM3842601 | 1864 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1416035 rs764367941 |
1865 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs371765378 | 1866 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371765378 | 1866 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1309992822 | 1867 | K>T | No | TOPMed | |
| rs2016541086 | 1868 | A>T | No | Ensembl | |
| rs991522602 | 1868 | A>V | No |
TOPMed gnomAD |
|
| rs2016540999 | 1869 | S>A | No | Ensembl | |
| rs958621472 | 1870 | T>A | No |
TOPMed gnomAD |
|
| rs1428890239 | 1871 | R>C | No |
TOPMed gnomAD |
|
| rs1347124459 | 1871 | R>H | No |
TOPMed gnomAD |
|
| TCGA novel | 1875 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759777823 | 1877 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV000782240 rs759777823 |
1877 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs375674671 | 1877 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1484204 | 1878 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383426298 | 1879 | L>V | No | gnomAD | |
| rs1355600745 | 1882 | A>T | No |
TOPMed gnomAD |
|
| rs1261555310 | 1883 | E>K | No | gnomAD | |
| rs761463265 | 1884 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1489663673 | 1888 | R>Q | No |
TOPMed gnomAD |
|
| rs578002660 | 1888 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2016540161 | 1890 | N>S | No | TOPMed | |
| rs1368379611 | 1892 | S>A | No | TOPMed | |
| rs1450702017 | 1892 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs1015157301 COSM5575798 |
1893 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs745596166 | 1894 | R>Q | No |
ExAC gnomAD |
|
| rs372051836 | 1894 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1180813769 | 1895 | K>Q | No | gnomAD | |
| rs2016539630 | 1898 | R>C | No | gnomAD | |
| rs191342427 | 1899 | E>G | No |
1000Genomes ExAC gnomAD |
|
|
rs747131828 RCV000762069 |
1899 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs752993016 | 1902 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs758424895 | 1902 | D>Y | No |
ExAC gnomAD |
|
| rs558056055 | 1903 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1429282349 | 1903 | A>V | No | Ensembl | |
| rs754138115 | 1904 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs767057323 | 1904 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs774051540 | 1905 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs774051540 | 1905 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs368149181 | 1905 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1479216148 | 1906 | T>A | No |
TOPMed gnomAD |
|
| COSM1033832 | 1906 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1222570347 | 1907 | A>V | No | gnomAD | |
| rs1226192819 | 1908 | D>N | No |
TOPMed gnomAD |
|
| rs769321758 | 1910 | M>V | No |
ExAC gnomAD |
|
| COSM283039 | 1912 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776378927 | 1913 | E>K | No |
ExAC gnomAD |
|
| rs1396459914 | 1917 | L>Q | No | gnomAD | |
| rs1296987223 | 1919 | N>T | No | gnomAD | |
| rs777646002 | 1920 | K>E | No |
ExAC gnomAD |
|
| rs758475805 | 1920 | K>R | No |
ExAC gnomAD |
|
| rs2146326752 | 1922 | R>T | No | Ensembl | |
| rs753492355 | 1923 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs2016514314 | 1923 | R>H | No | TOPMed | |
| rs371476289 | 1924 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1603482654 | 1925 | D>A | No | Ensembl | |
| rs1161615308 | 1925 | D>N | No | gnomAD | |
| rs1446304219 | 1926 | L>M | No | gnomAD | |
| rs772986357 | 1927 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1385709606 | 1927 | P>S | No | gnomAD | |
|
rs2016513741 RCV001092003 |
1929 | V>missing | No |
ClinVar dbSNP |
|
| rs1241143684 | 1931 | P>T | No |
TOPMed gnomAD |
|
| rs2146325465 | 1932 | R>C | No | Ensembl | |
| rs1291058743 | 1932 | R>H | No |
TOPMed gnomAD |
|
| rs906890636 | 1933 | R>Q | No |
TOPMed gnomAD |
|
| rs2016513201 | 1935 | A>T | No | Ensembl | |
| rs1362216513 | 1935 | A>V | No | gnomAD | |
| rs727503281 | 1936 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4103811 rs781388651 |
1936 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1324361146 | 1937 | K>R | No | gnomAD | |
| rs115031369 | 1939 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001682635 rs2146325401 |
1941 | D>missing | No |
ClinVar dbSNP |
|
| rs760289775 | 1941 | D>G | No |
ExAC gnomAD |
|
| rs760289775 | 1941 | D>V | No |
ExAC gnomAD |
|
| TCGA novel | 1942 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1403769723 | 1943 | S>F | No | gnomAD | |
| rs761625286 | 1944 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs777918996 | 1944 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs777918996 | 1944 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
rs1478233597 RCV001772569 |
1945 | E>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs774157099 | 1946 | E>V | No | ExAC | |
| rs768628153 | 1947 | V>I | No |
ExAC gnomAD |
|
| rs768628153 | 1947 | V>L | No |
ExAC gnomAD |
|
| rs763195367 | 1948 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs770189667 | 1951 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1247127142 | 1952 | D>H | No |
TOPMed gnomAD |
|
| rs1247127142 | 1952 | D>Y | No |
TOPMed gnomAD |
|
| rs1272229371 | 1953 | G>A | No | gnomAD | |
| rs200652984 | 1953 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1416033 | 1954 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569534564 | 1955 | E>G | No | Ensembl | |
| rs771206414 | 1957 | K>R | No |
ExAC gnomAD |
|
| rs955332434 | 1958 | P>S | No | TOPMed | |
| rs955332434 | 1958 | P>T | No | TOPMed | |
| rs747338693 | 1959 | A>T | No |
ExAC gnomAD |
4 associated diseases with P35579
[MIM: 155100]: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 603622]: Deafness, autosomal dominant, 17 (DFNA17)
A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
27 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| actomyosin | Any complex of actin, myosin, and accessory proteins. |
| actomyosin contractile ring | A cytoskeletal structure composed of actin filaments and myosin that forms beneath the plasma membrane of many cells, including animal cells and yeast cells, in a plane perpendicular to the axis of the spindle, i.e. the cell division plane. In animal cells, the contractile ring is located at the cleavage furrow. In budding fungal cells, e.g. mitotic S. cerevisiae cells, the contractile ring forms at the mother-bud neck before mitosis. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell leading edge | The area of a motile cell closest to the direction of movement. |
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| cortical granule | A secretory vesicle that is stored under the cell membrane of an egg. These vesicles fuse with the egg plasma membrane as part of egg activation and are part of the block to polyspermy. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
| myosin II filament | A bipolar filament composed of myosin II molecules. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| uropod | A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively. |
14 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| cytoskeletal motor activity | Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force). |
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein-membrane adaptor activity | The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
29 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| blood vessel endothelial cell migration | The orderly movement of an endothelial cell into the extracellular matrix in order to form new blood vessels during angiogenesis. |
| cortical granule exocytosis | The process of secretion by a cell that results in the release of intracellular molecules contained within a cortical granule by fusion of the vesicle with the plasma membrane of a cell. A cortical granule is a specialized secretory vesicle that is released during egg activation that changes the surface of the egg to prevent polyspermy. |
| cytokinetic process | A cellular process that is involved in cytokinesis (the division of the cytoplasm of a cell and its separation into two daughter cells). |
| endodermal cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. |
| establishment of meiotic spindle localization | The cell cycle process in which the directed movement of the meiotic spindle to a specific location in the cell occurs. |
| establishment of T cell polarity | The directed orientation of T cell signaling molecules and associated membrane rafts towards a chemokine gradient or a contact point with antigen presenting cell. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| leukocyte migration | The movement of a leukocyte within or between different tissues and organs of the body. |
| lysosome localization | Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
| meiotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a meiotic cell cycle. |
| membrane protein ectodomain proteolysis | The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). |
| monocyte differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. |
| myoblast fusion | A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| negative regulation of actin filament severing | Any process that stops, prevents or reduces the frequency, rate or extent of actin filament severing. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms |
| plasma membrane repair | The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| platelet formation | The process in which platelets bud from long processes extended by megakaryocytes. |
| positive regulation of protein processing in phagocytic vesicle | Any process that activates or increases the frequency, rate or extent of protein processing in phagocytic vesicle. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulated exocytosis | A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of plasma membrane repair | Any process that modulates the frequency, rate or extent of plasma membrane repair. |
| uropod organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a uropod, a rigid membrane projection with related cytoskeletal components at the trailing edge of a lymphocyte or other cell in the process of migrating or being activated. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
| Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
| P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
| P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
| P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
| P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
| Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
| O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
| A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQQAADKYL | YVDKNFINNP | LAQADWAAKK | LVWVPSDKSG | FEPASLKEEV | GEEAIVELVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGKKVKVNKD | DIQKMNPPKF | SKVEDMAELT | CLNEASVLHN | LKERYYSGLI | YTYSGLFCVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INPYKNLPIY | SEEIVEMYKG | KKRHEMPPHI | YAITDTAYRS | MMQDREDQSI | LCTGESGAGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TENTKKVIQY | LAYVASSHKS | KKDQGELERQ | LLQANPILEA | FGNAKTVKND | NSSRFGKFIR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| INFDVNGYIV | GANIETYLLE | KSRAIRQAKE | ERTFHIFYYL | LSGAGEHLKT | DLLLEPYNKY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RFLSNGHVTI | PGQQDKDMFQ | ETMEAMRIMG | IPEEEQMGLL | RVISGVLQLG | NIVFKKERNT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DQASMPDNTA | AQKVSHLLGI | NVTDFTRGIL | TPRIKVGRDY | VQKAQTKEQA | DFAIEALAKA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TYERMFRWLV | LRINKALDKT | KRQGASFIGI | LDIAGFEIFD | LNSFEQLCIN | YTNEKLQQLF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NHTMFILEQE | EYQREGIEWN | FIDFGLDLQP | CIDLIEKPAG | PPGILALLDE | ECWFPKATDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SFVEKVMQEQ | GTHPKFQKPK | QLKDKADFCI | IHYAGKVDYK | ADEWLMKNMD | PLNDNIATLL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HQSSDKFVSE | LWKDVDRIIG | LDQVAGMSET | ALPGAFKTRK | GMFRTVGQLY | KEQLAKLMAT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LRNTNPNFVR | CIIPNHEKKA | GKLDPHLVLD | QLRCNGVLEG | IRICRQGFPN | RVVFQEFRQR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YEILTPNSIP | KGFMDGKQAC | VLMIKALELD | SNLYRIGQSK | VFFRAGVLAH | LEEERDLKIT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DVIIGFQACC | RGYLARKAFA | KRQQQLTAMK | VLQRNCAAYL | KLRNWQWWRL | FTKVKPLLQV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SRQEEEMMAK | EEELVKVREK | QLAAENRLTE | METLQSQLMA | EKLQLQEQLQ | AETELCAEAE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ELRARLTAKK | QELEEICHDL | EARVEEEEER | CQHLQAEKKK | MQQNIQELEE | QLEEEESARQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KLQLEKVTTE | AKLKKLEEEQ | IILEDQNCKL | AKEKKLLEDR | IAEFTTNLTE | EEEKSKSLAK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LKNKHEAMIT | DLEERLRREE | KQRQELEKTR | RKLEGDSTDL | SDQIAELQAQ | IAELKMQLAK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KEEELQAALA | RVEEEAAQKN | MALKKIRELE | SQISELQEDL | ESERASRNKA | EKQKRDLGEE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LEALKTELED | TLDSTAAQQE | LRSKREQEVN | ILKKTLEEEA | KTHEAQIQEM | RQKHSQAVEE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LAEQLEQTKR | VKANLEKAKQ | TLENERGELA | NEVKVLLQGK | GDSEHKRKKV | EAQLQELQVK |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| FNEGERVRTE | LADKVTKLQV | ELDNVTGLLS | QSDSKSSKLT | KDFSALESQL | QDTQELLQEE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| NRQKLSLSTK | LKQVEDEKNS | FREQLEEEEE | AKHNLEKQIA | TLHAQVADMK | KKMEDSVGCL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| ETAEEVKRKL | QKDLEGLSQR | HEEKVAAYDK | LEKTKTRLQQ | ELDDLLVDLD | HQRQSACNLE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KKQKKFDQLL | AEEKTISAKY | AEERDRAEAE | AREKETKALS | LARALEEAME | QKAELERLNK |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| QFRTEMEDLM | SSKDDVGKSV | HELEKSKRAL | EQQVEEMKTQ | LEELEDELQA | TEDAKLRLEV |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| NLQAMKAQFE | RDLQGRDEQS | EEKKKQLVRQ | VREMEAELED | ERKQRSMAVA | ARKKLEMDLK |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| DLEAHIDSAN | KNRDEAIKQL | RKLQAQMKDC | MRELDDTRAS | REEILAQAKE | NEKKLKSMEA |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| EMIQLQEELA | AAERAKRQAQ | QERDELADEI | ANSSGKGALA | LEEKRRLEAR | IAQLEEELEE |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| EQGNTELIND | RLKKANLQID | QINTDLNLER | SHAQKNENAR | QQLERQNKEL | KVKLQEMEGT |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| VKSKYKASIT | ALEAKIAQLE | EQLDNETKER | QAACKQVRRT | EKKLKDVLLQ | VDDERRNAEQ |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| YKDQADKAST | RLKQLKRQLE | EAEEEAQRAN | ASRRKLQREL | EDATETADAM | NREVSSLKNK |
| 1930 | 1940 | 1950 | |||
| LRRGDLPFVV | PRRMARKGAG | DGSDEEVDGK | ADGAEAKPAE |