P11055
SS
Gene name |
MYH3 |
Protein name |
Myosin-3 |
Names |
Muscle embryonic myosin heavy chain , Myosin heavy chain 3 , Myosin heavy chain, fast skeletal muscle, embryonic , SMHCE |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4621 |
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 |
80-780 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P11055
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P11055-F1 | Predicted | AlphaFoldDB |
1884 variants for P11055
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000354665 rs191571748 RCV000323151 RCV001859907 CA8393428 |
7 | M>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs148637119 CA174417 COSM975412 RCV002515999 RCV002505138 RCV000149132 |
40 | V>M | Malignant tumor of prostate Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000785649 RCV000714984 rs1567564042 |
47 | Y>* | Contractures, pterygia, and variable skeletal fusions syndrome 1B Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_082274 | 47 | Y>del | CPSFS1B [UniProt] | Yes | UniProt |
|
CA8393401 RCV001850717 RCV002522913 RCV000358206 RCV000268167 rs143973840 |
56 | Q>E | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8393364 RCV000303165 rs199513213 RCV000408004 RCV002522912 RCV000791001 |
83 | P>R | Distal arthrogryposis type 2B1 MYH3-Related Disorders Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs779714194 RCV001967020 RCV002569323 |
86 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001127226 RCV001127225 rs767400961 |
100 | P>S | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001127223 RCV002556780 RCV001127224 rs147024680 |
116 | Y>C | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001374621 rs2142423298 |
119 | S>L | Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000314882 rs191837780 RCV000874742 CA8393286 RCV000400955 |
138 | E>K | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886052588 RCV000280400 RCV000349451 CA10649473 |
147 | K>R | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001124150 RCV001124151 rs777914421 |
170 | R>H | Distal arthrogryposis type 2B1 Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001270743 rs748140522 |
175 | I>L | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA123757 VAR_030370 RCV001529266 RCV001849265 RCV000778060 rs121913619 RCV000015202 |
178 | T>I | MYH3-Related Disorders Arthrogryposis, distal, type 2B3 Freeman-Sheldon syndrome DA2A and DA2B3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001124148 rs368171012 RCV001124149 RCV001882408 |
191 | R>W | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121913623 VAR_082275 RCV000486376 RCV000762979 RCV000015208 CA123762 |
234 | A>T | Variant assessed as Somatic; MODERATE impact. Arthrogryposis, distal, type 2B3 Freeman-Sheldon syndrome DA2B3 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs1555527172 RCV000623217 CA398109633 |
236 | T>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000714987 rs1567560725 |
241 | N>D | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567560718 RCV000714987 |
242 | S>F | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555527166 RCV000755065 CA358703 VAR_074668 RCV000185628 RCV000485237 |
243 | S>missing | CPSFS1A Spondylocarpotarsal synostosis syndrome Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP |
|
VAR_074668 rs1555527166 |
243 | S>del | CPSFS1A [UniProt] | Yes |
UniProt dbSNP |
|
VAR_030371 rs1597490381 RCV000855700 |
261 | S>F | Arthrogryposis, distal, type 2B3 DA2B3 [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV001375875 rs2142413627 |
281 | E>K | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142413600 RCV002226959 |
284 | Y>missing | Distal arthrogryposis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785646 VAR_082276 rs1567560080 |
287 | F>V | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A CPSFS1A [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV000662290 VAR_030372 rs139480342 RCV000195045 RCV001127113 CA209607 RCV001522905 |
292 | S>C | Distal arthrogryposis type 2B1 Rhabdomyolysis DA2B3; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs367711644 RCV001902094 RCV002548073 |
298 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10648563 RCV000407247 rs886052586 RCV000338705 |
304 | I>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567559562 VAR_082277 RCV000785644 |
333 | T>R | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A CPSFS1A [ClinVar, UniProt] | Yes |
ClinVar UniProt 1000Genomes dbSNP |
|
RCV000015206 rs121913621 CA123759 RCV003415707 RCV001650833 VAR_030373 |
375 | E>K | Arthrogryposis, distal, type 2B3 MYH3-related condition DA2B3; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP gnomAD |
|
rs750031446 RCV001126711 RCV001126710 |
377 | D>G | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567559027 RCV000778061 |
387 | Y>C | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000377169 RCV000341190 rs886052584 CA10638918 RCV002521088 |
404 | R>T | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8393030 rs763091291 RCV003556332 RCV000289843 |
437 | F>I | MYH3-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_082278 RCV000015207 CA123760 rs121913622 |
462 | D>G | Arthrogryposis, distal, type 2B3 DA2B3; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001375876 rs2142407941 |
467 | E>A | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs115742228 RCV000871384 CA8393005 RCV000384202 RCV000324997 |
471 | Y>H | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_030374 | 498 | E>G | DA2A [UniProt] | Yes | UniProt |
|
rs797045727 CA207831 RCV000193979 |
502 | Y>D | Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_030375 rs1597488252 RCV000855701 |
517 | D>Y | Arthrogryposis, distal, type 2B3 DA2B3; uncertain significance [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV001801254 rs2142404938 |
542 | P>T | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001122988 RCV001122989 rs2074284177 |
543 | K>M | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA8392949 rs200780612 RCV000353733 RCV002056554 RCV000263580 |
568 | K>R | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597488038 VAR_030376 RCV000855702 |
583 | Y>S | Freeman-Sheldon syndrome DA2A [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV001928363 RCV003167167 rs370119974 |
627 | T>M | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567557697 RCV000755064 |
645 | F>C | Spondylocarpotarsal synostosis syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs771300756 CA8392868 RCV000714985 RCV000599286 RCV002065186 |
662 | N>missing | Contractures, pterygia, and variable skeletal fusions syndrome 1B Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000015201 VAR_030377 COSM975397 CA123756 rs121913618 RCV001386285 |
672 | R>C | Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome DA2A [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000015200 RCV001268302 CA123755 COSM1380846 VAR_030378 rs121913617 |
672 | R>H | Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome DA2A [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001728090 rs2142402072 |
682 | P>Q | Contractures, pterygia, and variable skeletal fusions syndrome 1B [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142401800 RCV001728089 |
701 | E>D | Contractures, pterygia, and variable skeletal fusions syndrome 1B [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001815996 rs2142400628 |
769 | G>S | Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_030379 | 769 | G>V | DA2B3 [UniProt] | Yes | UniProt |
|
RCV000407603 CA10648559 RCV000352314 rs886052583 |
791 | A>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001198906 rs1412652406 |
798 | M>V | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA8392770 RCV001171308 RCV000598730 rs754050324 |
807 | Q>* | Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome (sct) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121913620 RCV000015204 VAR_030380 CA123758 |
825 | V>D | Freeman-Sheldon syndrome DA2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1303823400 RCV003770367 RCV001262776 |
825 | V>I | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002522911 RCV000400994 RCV000292784 CA8392751 RCV003258762 rs200652175 |
829 | P>L | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142400070 RCV001533166 |
834 | F>S | Contractures, pterygia, and variable skeletal fusions syndrome 1B [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_030381 | 838 | K>E | DA2B3 [UniProt] | Yes | UniProt |
|
RCV001289472 rs2074256645 |
838 | K>Q | Distal arthrogryposis [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_030382 | 841 | L>del | DA2B3 [UniProt] | Yes | UniProt |
|
RCV000015205 CA10575523 rs879255230 |
864 | L>missing | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000755066 rs1567556169 |
900 | L>missing | Spondylocarpotarsal synostosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001126502 rs367709724 RCV001126503 |
906 | C>S | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001332137 rs746388623 RCV002546533 |
923 | V>L | Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766768674 RCV002307790 RCV001915599 RCV001899025 |
926 | R>missing | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148835368 CA10648556 RCV000324912 RCV000365559 |
938 | T>K | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2074249340 RCV003770297 RCV001250559 |
964 | K>R | Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000117666 RCV000286876 VAR_056173 CA153785 rs34088014 RCV001573300 RCV000339782 |
1003 | A>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142398204 RCV001375878 |
1020 | S>* | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142002449 CA8392600 RCV000891903 RCV000327690 RCV000274800 RCV002521087 |
1046 | R>Q | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000354572 CA8392598 RCV000894273 RCV000276135 rs542491960 |
1047 | V>I | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886052582 RCV000297395 CA10638908 RCV000262758 |
1058 | G>E | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878853126 CA10581449 RCV000224820 |
1072 | N>missing | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_074669 | 1072 | N>NN | CPSFS1A [UniProt] | Yes | UniProt |
|
RCV000185627 VAR_074670 rs796051884 CA203903 |
1075 | Q>P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A CPSFS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001119663 rs1327044875 RCV001119662 |
1084 | K>N | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA398153663 rs1555525941 RCV000624776 |
1090 | Q>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001943999 RCV003289256 rs748991696 |
1115 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001119659 RCV000875294 rs184919169 RCV001119658 |
1130 | R>H | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs12941197 RCV001118120 RCV000250308 RCV002503937 CA8392526 VAR_030196 RCV000874596 RCV001118121 |
1137 | R>C | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000342785 RCV000392836 rs886052581 CA10648555 |
1147 | L>M | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001118119 rs145785711 RCV001796368 RCV001118118 |
1149 | E>Q | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755833851 RCV001950754 RCV003447610 |
1150 | R>W | Distal arthrogryposis [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000877232 rs145080512 RCV001196087 RCV000290554 RCV000343948 CA8392497 |
1160 | T>M | Distal arthrogryposis type 2B1 Arthrogryposis, distal, type 2B3 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000349054 RCV000387212 CA8392491 rs373367650 RCV002521086 |
1170 | A>E | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001961659 rs143550129 RCV002571265 |
1176 | R>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199834077 RCV001116675 RCV001856531 RCV001116674 |
1178 | D>N | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000296509 CA8392485 RCV000388480 rs375904355 RCV000878715 |
1179 | L>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001675623 RCV001778729 VAR_030197 rs2285477 RCV001778728 RCV000259987 RCV000117670 RCV001778727 RCV000317596 CA153793 |
1192 | A>T | Contractures, pterygia, and variable skeletal fusions syndrome 1B Distal arthrogryposis type 2B1 Arthrogryposis, distal, type 2B3 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000318888 RCV000192995 rs61735358 CA206196 RCV000375644 RCV000224542 |
1198 | A>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374929326 RCV002543448 COSM1380842 RCV002037145 |
1198 | A>V | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002274673 RCV003408197 rs763483836 |
1210 | N>S | MYH3-related condition [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001375877 rs2142395080 |
1221 | E>missing | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558166 RCV001118020 rs752510156 RCV001118021 RCV003346328 |
1240 | S>T | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000874040 CA8392417 rs140074626 RCV000295438 RCV000352771 |
1244 | A>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001116572 RCV002466623 RCV001116571 rs761684970 |
1284 | E>K | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003688839 rs886052580 CA10638894 RCV000335273 RCV000402116 |
1295 | K>E | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003089214 rs144799480 RCV002226913 |
1304 | R>S | Distal arthrogryposis [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000282552 RCV000117672 VAR_056174 rs35230241 RCV000224960 RCV000374471 CA153797 |
1313 | T>I | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142390113 RCV001375882 |
1334 | L>missing | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785645 rs1567553806 VAR_082279 |
1344 | L>P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A CPSFS1A; uncertain significance [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
CA8392312 rs140218185 RCV000827586 RCV000322172 RCV000283542 |
1361 | A>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002522910 RCV000380129 RCV000323441 CA8392307 RCV002521085 rs200964415 |
1370 | A>V | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000714841 RCV001766573 RCV000714842 rs1567553702 RCV000714840 |
1377 | E>Q | Distal arthrogryposis type 2B1 Arthrogryposis, distal, type 1A Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs143574829 RCV001119463 RCV001759887 RCV001119464 COSM1380840 |
1383 | R>H | Distal arthrogryposis type 2B1 Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757083529 RCV000402677 CA8392277 RCV000354488 |
1413 | A>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001375879 rs2142388822 |
1415 | L>R | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002555399 RCV001903744 rs190551597 |
1441 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597482824 RCV001027991 |
1469 | E>missing | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001116464 rs537656234 RCV001116463 RCV002069876 |
1484 | K>R | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002014487 RCV003331246 rs779530750 |
1508 | Q>* | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001116461 rs1388984490 RCV001116462 |
1510 | I>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003167009 RCV001884886 rs370151413 |
1515 | E>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1485125112 RCV001116459 RCV001116460 |
1531 | R>G | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA10644844 RCV000336604 RCV000284455 rs886052579 |
1549 | E>D | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781003211 CA8392127 RCV000325190 RCV003765866 RCV000291389 |
1593 | R>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001119374 RCV000874011 rs201488879 RCV001119375 |
1604 | A>T | Distal arthrogryposis type 2B1 Variant assessed as Somatic; MODERATE impact. Freeman-Sheldon syndrome [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555525264 RCV000625795 CA398136862 |
1609 | R>K | Distal arthrogryposis type 2B1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003331252 rs141020227 RCV003408032 RCV001966686 COSM4063887 |
1614 | R>W | Variant assessed as Somatic; MODERATE impact. MYH3-Related Disorders MYH3-related condition [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000989753 RCV000873787 rs34165480 CA206788 RCV001117810 VAR_030384 RCV000193355 |
1637 | A>V | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome originally found in DA2B3 patients [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850715 CA8392093 RCV000331509 rs143396252 RCV000383403 RCV002521084 |
1642 | K>R | Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001116356 RCV000951390 RCV001116355 rs140180067 |
1692 | T>A | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376574468 RCV000332555 RCV002522909 RCV000261237 CA8392039 |
1712 | E>Q | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001375883 rs2142381440 |
1740 | S>missing | MYH3-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001121276 RCV002556609 RCV001121275 rs200191762 |
1744 | D>G | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754751938 RCV003247144 RCV001928026 |
1745 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074158720 RCV001197805 |
1751 | N>D | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000262367 RCV001572968 CA153805 RCV000359550 rs34393601 RCV000117676 |
1752 | A>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000391671 RCV002522907 rs773612935 RCV000345934 CA8391970 |
1767 | A>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003298381 CA8391945 RCV000351710 rs138194008 RCV000296664 RCV000873810 |
1797 | R>H | Distal arthrogryposis type 2B1 Inborn genetic diseases Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142378109 RCV002211032 |
1819 | R>S | Contractures, pterygia, and variable skeletal fusions syndrome 1B [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001197096 rs2074140828 |
1825 | F>L | Arthrogryposis, distal, type 2B3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001375965 rs2142377128 |
1873 | Q>P | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs147304568 CA8391832 RCV000405654 RCV002521082 RCV000309405 |
1887 | D>G | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886052578 RCV000312414 CA10649468 RCV000349071 |
1890 | A>G | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000352079 RCV002522906 RCV000391289 rs780846542 CA8391830 |
1892 | A>T | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000391285 rs886052577 CA10638885 RCV000278428 |
1935 | V>A | Distal arthrogryposis type 2B1 Freeman-Sheldon syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| rs2074415028 | 2 | S>N | No | TOPMed | |
| rs2142431506 | 3 | S>C | No | Ensembl | |
| rs898458927 | 4 | D>N | No | TOPMed | |
| rs1192759965 | 5 | T>A | No |
TOPMed gnomAD |
|
| rs1192759965 | 5 | T>P | No |
TOPMed gnomAD |
|
| rs748436283 | 7 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs781326647 | 9 | V>A | No |
ExAC gnomAD |
|
| rs1223099319 | 9 | V>M | No | gnomAD | |
| rs201428362 | 10 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs567246879 | 11 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1307651658 | 12 | I>L | No | gnomAD | |
| rs1307651658 | 12 | I>V | No | gnomAD | |
| rs780640092 | 13 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1277175145 | 13 | A>P | No | gnomAD | |
| rs780640092 | 13 | A>V | No |
ExAC TOPMed gnomAD |
|
| COSM4063908 | 15 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1338870916 | 15 | P>S | No |
TOPMed gnomAD |
|
| rs267604729 | 16 | F>L | No | gnomAD | |
| rs758868589 | 17 | L>F | No |
ExAC gnomAD |
|
| rs757688928 | 18 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs757688928 | 18 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs750940457 | 18 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2074414474 | 19 | K>N | No | Ensembl | |
|
RCV002248023 RCV003093987 rs1358980010 |
21 | E>G | No |
ClinVar TOPMed dbSNP |
|
| rs1567564110 | 22 | K>N | No | Ensembl | |
| rs1401378472 | 23 | E>G | No | gnomAD | |
| rs752400870 | 24 | R>G | No |
ExAC gnomAD |
|
|
RCV002014290 rs759121005 |
26 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs2142431278 RCV001816192 |
28 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs773778478 | 29 | N>Y | No |
ExAC TOPMed gnomAD |
|
| COSM4822477 | 30 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264659759 | 31 | P>A | No | gnomAD | |
| rs765895516 | 31 | P>L | No |
ExAC gnomAD |
|
| rs1264659759 | 31 | P>S | No | gnomAD | |
| rs2142431232 | 33 | D>E | No | Ensembl | |
| rs2074414184 | 33 | D>G | No | TOPMed | |
|
RCV002010324 rs143168289 |
33 | D>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 34 | A>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769583314 | 35 | K>E | No |
ExAC gnomAD |
|
| rs1196330551 | 35 | K>R | No | gnomAD | |
|
RCV001949072 rs530005642 |
36 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2074414045 | 37 | Y>* | No | Ensembl | |
| rs768718953 | 37 | Y>* | No |
ExAC gnomAD |
|
| rs148637119 | 40 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3370607 | 41 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1308437307 | 41 | V>M | No |
TOPMed gnomAD |
|
| rs1792675041 | 42 | D>H | No | TOPMed | |
| rs746440299 | 46 | E>D | No |
ExAC gnomAD |
|
| rs1042623176 | 49 | K>R | No |
TOPMed gnomAD |
|
| rs779493094 | 51 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs779493094 | 51 | K>Q | No |
ExAC TOPMed gnomAD |
|
| COSM975411 | 53 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs927038242 | 53 | K>Q | No |
TOPMed gnomAD |
|
| rs2074413694 | 53 | K>R | No | TOPMed | |
| rs983910272 | 54 | S>G | No | gnomAD | |
| COSM460421 | 55 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs143973840 | 56 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1246686782 | 57 | D>N | No | Ensembl | |
| rs539620341 | 58 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs539620341 | 58 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs2074413466 | 58 | G>R | No | TOPMed | |
| rs539620341 | 58 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1597494983 | 60 | V>A | No | Ensembl | |
| TCGA novel | 60 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1252698051 | 62 | V>A | No |
TOPMed gnomAD |
|
| rs989896438 | 62 | V>M | No | TOPMed | |
| rs2074413249 | 65 | E>D | No | TOPMed | |
| rs762383479 | 67 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs562034277 | 68 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1238136671 | 69 | T>I | No |
TOPMed gnomAD |
|
| rs1238136671 | 69 | T>N | No |
TOPMed gnomAD |
|
| COSM300486 | 70 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1338508115 | 71 | V>A | No |
TOPMed gnomAD |
|
| rs757927582 | 71 | V>L | No |
ExAC gnomAD |
|
| rs2074387293 | 73 | K>R | No | Ensembl | |
| rs1359894881 | 74 | P>L | No |
TOPMed gnomAD |
|
| rs1400535983 | 74 | P>T | No | gnomAD | |
| COSM3889273 | 75 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1426055212 | 75 | E>Q | No | gnomAD | |
| TCGA novel | 76 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs935061024 | 77 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs764694588 | 78 | Y>H | No |
ExAC gnomAD |
|
| rs763858044 | 79 | A>S | No |
ExAC gnomAD |
|
| rs763858044 | 79 | A>T | No |
ExAC gnomAD |
|
| COSM3514039 | 79 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074386871 | 80 | M>I | No | Ensembl | |
|
RCV001900549 rs760447963 |
80 | M>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs775585251 | 81 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs947693819 | 82 | P>S | No | Ensembl | |
| rs900770123 | 83 | P>A | No |
TOPMed gnomAD |
|
|
rs199513213 RCV001942976 |
83 | P>H | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM705049 | 84 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761123152 | 84 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771125552 | 84 | K>R | No |
ExAC TOPMed gnomAD |
|
| COSM2925590 | 84 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770068094 | 85 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs779714194 | 86 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1398260280 | 91 | M>I | No | gnomAD | |
|
rs79952473 RCV000522209 CA398116910 |
91 | M>L | No |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
| rs79952473 | 91 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 92 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2074386234 |
92 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1170922876 | 93 | M>V | No | gnomAD | |
| rs753719490 | 95 | T>M | No |
ExAC gnomAD |
|
| rs755880674 | 96 | H>Q | No |
ExAC gnomAD |
|
| rs1419676589 | 96 | H>R | No |
TOPMed gnomAD |
|
| rs1192153940 | 96 | H>Y | No | gnomAD | |
| rs1597493425 | 98 | N>S | No | Ensembl | |
|
rs983358916 COSM6080085 |
102 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs774714370 | 103 | L>P | No |
ExAC gnomAD |
|
| rs1255858548 | 104 | Y>* | No | gnomAD | |
| rs1220881468 | 105 | N>S | No | gnomAD | |
| rs766571949 | 106 | L>V | No |
ExAC gnomAD |
|
| rs138935625 | 107 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2074385610 | 108 | D>Y | No | TOPMed | |
| rs2074385564 | 109 | R>G | No | gnomAD | |
|
rs773615398 COSM5510883 RCV001779738 |
109 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1030154910 | 112 | S>T | No |
TOPMed gnomAD |
|
| rs867661636 | 113 | W>L | No | Ensembl | |
| rs770297311 | 113 | W>R | No |
ExAC gnomAD |
|
| rs2074385412 | 115 | I>F | No | TOPMed | |
| rs2074385376 | 115 | I>S | No | gnomAD | |
| rs147024680 | 116 | Y>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1597492810 | 117 | T>P | No | Ensembl | |
| COSM2925584 | 123 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772312248 | 124 | V>A | No |
ExAC gnomAD |
|
| rs775870387 | 124 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1368962158 | 125 | T>A | No |
TOPMed gnomAD |
|
| rs201787435 | 126 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201787435 CA207607 RCV002057000 RCV000193849 |
126 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA209644 RCV000195071 rs797045729 |
127 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1597492779 | 127 | N>T | No | Ensembl | |
| rs2074375755 | 129 | Y>C | No | TOPMed | |
| rs2142423200 | 129 | Y>H | No | Ensembl | |
| rs1169565963 | 130 | K>* | No | gnomAD | |
| rs747615729 | 133 | P>A | No |
ExAC gnomAD |
|
|
rs368449050 RCV002244329 |
133 | P>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM705052 | 133 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779954264 | 134 | V>G | No | ExAC | |
| rs746924408 | 134 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs746924408 | 134 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs758120694 | 136 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs746104304 | 137 | P>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001883949 rs143057132 |
138 | E>D | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs753874206 | 138 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1597492739 | 139 | V>G | No | Ensembl | |
| rs1231896301 | 139 | V>L | No |
TOPMed gnomAD |
|
| rs1231896301 | 139 | V>M | No |
TOPMed gnomAD |
|
| rs1279423718 | 140 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1399883002 | 142 | G>S | No |
TOPMed gnomAD |
|
|
RCV002021414 rs562708339 |
144 | R>* | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs562708339 | 144 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396728749 COSM6041622 |
144 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1455734326 | 145 | G>S | No |
TOPMed gnomAD |
|
| rs753141537 | 147 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 148 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1349571031 | 148 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA gnomAD |
| rs1349571031 | 148 | R>G | No |
1000Genomes gnomAD |
|
| rs202142101 | 148 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs202142101 | 148 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1464629204 | 149 | Q>* | No | Ensembl | |
| rs772944590 | 150 | E>D | No |
ExAC gnomAD |
|
| rs879163652 | 151 | A>D | No | Ensembl | |
| rs879163652 | 151 | A>G | No | Ensembl | |
| rs1192876445 | 151 | A>T | No | gnomAD | |
| rs776332251 | 153 | P>S | No |
ExAC gnomAD |
|
| rs866232101 | 154 | H>Y | No | TOPMed | |
| rs1435099106 | 156 | F>Y | No | TOPMed | |
| rs923904074 | 157 | S>F | No | Ensembl | |
| rs768265932 | 158 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs768265932 | 158 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs775220722 | 161 | N>S | No |
ExAC gnomAD |
|
|
rs1031781302 COSM975410 |
162 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1300198398 | 165 | F>L | No | TOPMed | |
| rs1218567403 | 165 | F>Y | No | gnomAD | |
| rs1306336110 | 166 | M>V | No | gnomAD | |
| rs2074374275 | 169 | D>N | No | TOPMed | |
|
COSM1709900 rs1160002369 |
170 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs777914421 | 170 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1160002369 | 170 | R>S | No | gnomAD | |
| TCGA novel | 171 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074363621 | 172 | N>D | No | gnomAD | |
| rs2074363536 | 174 | S>C | No | Ensembl | |
| rs1179187229 | 174 | S>T | No | gnomAD | |
| rs748140522 | 175 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs748140522 | 175 | I>V | No |
ExAC TOPMed gnomAD |
|
|
COSM975409 rs768779720 |
178 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs121913619 | 178 | T>N | No | gnomAD | |
| rs372032475 | 179 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | G>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1196490495 | 182 | G>A | No |
TOPMed gnomAD |
|
|
TCGA novel rs1416086217 |
182 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
| TCGA novel | 182 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1837651977 | 183 | A>S | No | TOPMed | |
|
rs2142418698 RCV001944390 |
187 | V>K | No |
ClinVar Ensembl dbSNP |
|
| rs111832675 | 190 | K>T | No | Ensembl | |
| rs1465496934 | 191 | R>Q | No | TOPMed | |
|
RCV001505937 rs750773513 |
198 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779388217 | 199 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs553225368 | 201 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1200115190 | 202 | T>S | No | TOPMed | |
| COSM6145563 | 205 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001203740 rs2074356148 |
205 | L>P | No |
ClinVar Ensembl dbSNP |
|
| rs1430713157 | 206 | A>T | No | Ensembl | |
| rs2074356086 | 206 | A>V | No | Ensembl | |
| rs759029381 | 208 | K>R | No |
ExAC gnomAD |
|
| rs2074355948 | 209 | K>E | No | Ensembl | |
| rs2074355924 | 209 | K>N | No | Ensembl | |
| rs1338734565 | 210 | D>N | No | gnomAD | |
| rs541306725 | 212 | K>R | No | 1000Genomes | |
|
rs1438039119 RCV001879473 |
213 | M>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1331140833 | 214 | K>N | No | gnomAD | |
|
RCV001760766 rs1326527154 |
215 | G>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs990123106 | 219 | D>G | No | TOPMed | |
| rs558967135 | 219 | D>H | No |
1000Genomes ExAC gnomAD |
|
| rs558967135 | 219 | D>Y | No |
1000Genomes ExAC gnomAD |
|
| COSM705053 | 220 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1425961803 | 221 | I>T | No | gnomAD | |
| rs2074345715 | 222 | I>V | No |
TOPMed gnomAD |
|
| rs1382443790 | 223 | S>N | No | gnomAD | |
| rs1452635749 | 223 | S>R | No | gnomAD | |
| rs758392080 | 225 | N>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074345524 | 227 | L>V | No | TOPMed | |
| rs1212162439 | 230 | A>G | No | gnomAD | |
| COSM975407 | 231 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975406 | 235 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1656105606 | 237 | V>M | No | TOPMed | |
| rs201410825 | 238 | R>G | No | 1000Genomes | |
| rs959952468 | 240 | D>Y | No | Ensembl | |
| rs760944957 | 241 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs775761222 | 244 | R>C | No |
ExAC gnomAD |
|
| rs775761222 | 244 | R>G | No |
ExAC gnomAD |
|
| rs2074344968 | 244 | R>H | No | TOPMed | |
| rs956286451 | 246 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2074331734 | 247 | K>* | No | Ensembl | |
| rs1158828647 | 249 | I>F | No | gnomAD | |
| rs761035474 | 250 | R>* | No |
ExAC gnomAD |
|
|
rs775849117 RCV001964870 COSM173481 |
250 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs146892292 | 252 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3514035 | 252 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074331416 | 258 | K>R | No | Ensembl | |
| rs1309434110 | 260 | A>S | No |
TOPMed gnomAD |
|
| rs1378016379 | 262 | A>G | No |
TOPMed gnomAD |
|
| rs2074331307 | 262 | A>T | No | TOPMed | |
|
RCV001965280 rs771509347 |
263 | D>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs763347751 | 264 | I>T | No |
ExAC TOPMed gnomAD |
|
|
CA16620329 rs1064794980 RCV000482056 |
268 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM4063907 | 268 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074330477 | 275 | T>S | No | gnomAD | |
| rs2074330444 | 276 | F>C | No |
TOPMed gnomAD |
|
| TCGA novel | 282 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1298595859 | 283 | S>N | No |
TOPMed gnomAD |
|
| rs1298595859 | 283 | S>T | No |
TOPMed gnomAD |
|
|
RCV000269786 CA10603820 rs886042111 |
284 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs199660591 | 285 | H>Y | No | 1000Genomes | |
| rs751709861 | 286 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1169607510 | 289 | Q>E | No | gnomAD | |
| rs2074330145 | 289 | Q>H | No | TOPMed | |
| rs2142413563 | 291 | L>I | No | Ensembl | |
| rs1426589497 | 296 | P>A | No |
TOPMed gnomAD |
|
| rs2074330045 | 296 | P>L | No | Ensembl | |
| rs1426589497 | 296 | P>T | No |
TOPMed gnomAD |
|
|
RCV001995950 rs2074330016 |
297 | E>D | No |
ClinVar TOPMed dbSNP |
|
| rs1467807925 | 298 | L>P | No | gnomAD | |
| rs1250744125 | 299 | I>V | No | gnomAD | |
| COSM975405 | 300 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074317601 | 301 | L>V | No | gnomAD | |
| rs1597489764 | 302 | L>Q | No | Ensembl | |
| rs1421268946 | 304 | I>M | No | gnomAD | |
| rs2142411338 | 305 | T>M | No | Ensembl | |
| rs755286824 | 306 | T>A | No |
ExAC gnomAD |
|
| TCGA novel | 306 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755286824 | 306 | T>P | No |
ExAC gnomAD |
|
| rs199987136 | 309 | Y>* | No |
1000Genomes ExAC gnomAD |
|
| COSM3818810 | 310 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1296561490 | 310 | D>H | No |
TOPMed gnomAD |
|
| rs1296561490 | 310 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1296561490 | 310 | D>Y | No |
TOPMed gnomAD |
|
| rs1056025691 | 311 | Y>* | No | Ensembl | |
| rs1283071524 | 311 | Y>C | No |
TOPMed gnomAD |
|
| rs1283071524 | 311 | Y>S | No |
TOPMed gnomAD |
|
| rs2142411273 | 312 | P>L | No | Ensembl | |
| rs1301562398 | 314 | I>M | No |
TOPMed gnomAD |
|
| rs555398029 | 314 | I>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1031094617 | 315 | S>G | No | TOPMed | |
| rs1242513605 | 315 | S>R | No | gnomAD | |
| rs2074317038 | 316 | Q>H | No | Ensembl | |
| rs1306108244 | 318 | E>D | No | gnomAD | |
| rs750966497 | 318 | E>V | No |
ExAC gnomAD |
|
| rs1005769169 | 324 | I>K | No | gnomAD | |
| rs1005769169 | 324 | I>T | No | gnomAD | |
| rs762272961 | 325 | D>G | No |
ExAC gnomAD |
|
| rs2142411151 | 327 | A>G | No | Ensembl | |
| rs999162669 | 328 | E>D | No |
TOPMed gnomAD |
|
| rs1373043780 | 331 | L>V | No | gnomAD | |
| rs1362854180 | 333 | T>A | No | gnomAD | |
| rs1567559562 | 333 | T>I | No | 1000Genomes | |
|
COSM4063904 rs142547724 |
335 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1261343107 | 335 | S>N | No | gnomAD | |
| rs2142410931 | 335 | S>R | No | Ensembl | |
| rs1261343107 | 335 | S>T | No | gnomAD | |
|
COSM4063903 rs1336684067 |
336 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
RCV001965648 rs2074315706 |
337 | I>V | No |
ClinVar Ensembl dbSNP |
|
| rs774074652 | 338 | D>E | No |
ExAC gnomAD |
|
| TCGA novel | 338 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1232450424 | 339 | I>M | No | gnomAD | |
| rs762644725 | 341 | G>C | No |
ExAC gnomAD |
|
| rs762644725 | 341 | G>R | No |
ExAC gnomAD |
|
| COSM1380852 | 341 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769426379 | 343 | T>A | No |
ExAC gnomAD |
|
| rs748104095 | 344 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs866809222 | 344 | P>R | No | gnomAD | |
| TCGA novel | 345 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3421284 | 346 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776654272 | 347 | K>E | No |
ExAC gnomAD |
|
| rs1461231874 | 351 | Y>* | No | gnomAD | |
| rs367706009 | 354 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000996493 rs1597489612 |
355 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs758592875 | 357 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs746074716 | 358 | M>V | No | ExAC | |
| rs779028641 | 359 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs757259157 | 360 | Y>C | No |
ExAC gnomAD |
|
| rs1231980615 | 361 | G>R | No |
TOPMed gnomAD |
|
|
RCV001887177 rs1231980615 |
361 | G>W | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs764459498 | 363 | M>V | No |
ExAC gnomAD |
|
| rs112145787 | 365 | F>C | No | Ensembl | |
| rs112145787 | 365 | F>S | No | Ensembl | |
| rs756531186 | 366 | K>M | No |
ExAC gnomAD |
|
| rs756531186 | 366 | K>R | No |
ExAC gnomAD |
|
| rs1275062760 | 367 | Q>* | No | gnomAD | |
| rs2074314858 | 367 | Q>R | No | TOPMed | |
|
rs1555526819 RCV000598559 CA398176165 |
368 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1215038260 | 370 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2074314763 | 370 | R>Q | No | Ensembl | |
| rs121913621 | 375 | E>Q | No |
ESP gnomAD |
|
| rs767910953 | 376 | P>Q | No |
ExAC gnomAD |
|
| TCGA novel | 377 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2142410600 RCV001768543 |
378 | G>D | No |
ClinVar Ensembl dbSNP |
|
| rs2074314553 | 379 | T>R | No | Ensembl | |
| COSM4800735 | 380 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1281704039 | 381 | V>A | No | gnomAD | |
|
rs1057524871 CA16607168 RCV000417627 |
381 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs753245992 | 383 | D>G | No |
ExAC gnomAD |
|
| rs200891912 | 385 | T>A | No | TOPMed | |
| rs1306679407 | 385 | T>I | No | gnomAD | |
| rs200891912 | 385 | T>P | No | TOPMed | |
| rs2074304048 | 386 | A>T | No | gnomAD | |
| rs2074304007 | 388 | L>M | No | TOPMed | |
| TCGA novel | 389 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750125413 | 394 | S>* | No |
ExAC TOPMed gnomAD |
|
|
rs750125413 COSM3514034 |
394 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1567558990 | 396 | L>F | No | Ensembl | |
| rs181714752 | 398 | K>E | No |
1000Genomes ExAC gnomAD |
|
|
RCV001983295 rs2074303729 |
400 | L>F | No |
ClinVar Ensembl dbSNP |
|
| rs1177619463 | 401 | C>R | No | gnomAD | |
| rs2074303670 | 402 | F>I | No | Ensembl | |
| rs1189921311 | 408 | G>R | No | gnomAD | |
| rs760593973 | 408 | G>V | No |
ExAC gnomAD |
|
| rs376091685 | 411 | Y>* | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 412 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775429039 | 412 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs2074303439 | 413 | T>S | No | Ensembl | |
| COSM1380851 | 414 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs979586656 | 417 | T>I | No | 1000Genomes | |
| rs759276020 | 417 | T>S | No |
ExAC gnomAD |
|
| rs1350359170 | 420 | Q>* | No | gnomAD | |
| rs1277847755 | 420 | Q>R | No | TOPMed | |
| rs1344187348 | 421 | V>A | No |
TOPMed gnomAD |
|
|
rs2142408258 RCV001794688 |
421 | V>F | No |
ClinVar Ensembl dbSNP |
|
| rs1451213106 | 422 | H>Q | No | TOPMed | |
| rs2074302472 | 423 | H>R | No | TOPMed | |
| rs763513366 | 424 | A>D | No |
ExAC gnomAD |
|
| rs1266553859 | 424 | A>S | No | gnomAD | |
| rs868674786 | 425 | V>L | No | Ensembl | |
| rs149346904 | 428 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs767402395 | 431 | S>* | No | ExAC | |
| rs2074301992 | 434 | E>Q | No | TOPMed | |
| rs1567558850 | 435 | K>N | No | Ensembl | |
| rs373367177 | 436 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs138736767 | 440 | M>T | No | ESP | |
| rs773427750 | 440 | M>V | No |
ExAC gnomAD |
|
| rs769788909 | 442 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs748221316 | 443 | R>C | No |
ExAC gnomAD |
|
| rs150199167 | 443 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs769340510 | 444 | I>V | No |
ExAC gnomAD |
|
| rs747501104 | 446 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2074301267 | 449 | D>V | No | gnomAD | |
|
rs2074301230 COSM5851808 |
450 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2074300603 | 452 | L>F | No | TOPMed | |
| COSM4894352 | 453 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370193483 | 453 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1213932275 | 454 | R>S | No |
TOPMed gnomAD |
|
| rs1469157411 | 457 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1215987642 | 457 | F>S | No | gnomAD | |
| rs1567558788 | 458 | I>T | No | Ensembl | |
| TCGA novel | 463 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs887693713 | 465 | G>C | No | Ensembl | |
| COSM276213 | 467 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1213186440 | 468 | I>L | No | TOPMed | |
| rs1035764508 | 471 | Y>C | No | gnomAD | |
| rs1035764508 | 471 | Y>F | No | gnomAD | |
| TCGA novel | 476 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074287141 | 482 | T>I | No | Ensembl | |
| rs747519556 | 483 | N>D | No |
ExAC gnomAD |
|
| rs1023869944 | 483 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 490 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001593698 rs145792814 |
492 | H>Y | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs779115190 | 494 | M>T | No |
ExAC gnomAD |
|
|
rs797045726 RCV000192750 CA205787 |
494 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs768800372 | 495 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs747751601 | 496 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1207607744 | 500 | E>K | No |
TOPMed gnomAD |
|
| rs1469787998 | 501 | E>* | No |
TOPMed gnomAD |
|
|
rs1469787998 RCV001892483 |
501 | E>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 506 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001547542 rs2142405404 |
507 | I>T | No |
ClinVar Ensembl dbSNP |
|
| rs751522595 | 507 | I>V | No |
ExAC gnomAD |
|
| rs1421214615 | 508 | E>D | No |
TOPMed gnomAD |
|
| rs1174463579 | 508 | E>G | No | gnomAD | |
|
rs758241160 COSM975401 |
508 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1251903998 | 509 | W>G | No | gnomAD | |
|
COSM4063901 rs1182023838 |
510 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM975400 | 511 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750285502 | 513 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs762158001 | 515 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1597488248 | 517 | D>A | No | Ensembl | |
| rs1597488244 | 518 | L>R | No | Ensembl | |
|
RCV001559613 rs921836422 |
519 | A>S | No |
ClinVar TOPMed dbSNP |
|
|
COSM1286428 rs1240953921 |
519 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2074286005 | 521 | C>W | No | gnomAD | |
| rs2074286036 | 521 | C>Y | No | Ensembl | |
| rs146873206 | 522 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760785498 COSM4063900 |
523 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs760785498 | 523 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1357281263 | 525 | I>N | No |
TOPMed gnomAD |
|
|
rs1555526457 COSM3421283 |
526 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1251042320 | 528 | P>A | No |
TOPMed gnomAD |
|
| rs771350054 | 529 | M>I | No |
ExAC gnomAD |
|
| rs774663004 | 529 | M>V | No |
ExAC gnomAD |
|
| rs2074284488 | 531 | I>V | No | gnomAD | |
| rs200449352 | 532 | F>L | No | 1000Genomes | |
| rs1472516877 | 532 | F>S | No | gnomAD | |
| rs1472516877 | 532 | F>Y | No | gnomAD | |
| TCGA novel | 537 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1597488114 | 537 | E>D | No | Ensembl | |
| rs1181146655 | 538 | E>* | No | gnomAD | |
|
rs2142404945 RCV001904493 |
540 | M>I | No |
ClinVar Ensembl dbSNP |
|
| rs763265492 | 540 | M>L | No |
ExAC gnomAD |
|
|
rs1057518378 RCV000413026 CA16043010 |
542 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1597488097 | 545 | T>I | No | Ensembl | |
| rs1247613631 | 545 | T>S | No |
TOPMed gnomAD |
|
| rs1331324265 | 546 | D>G | No | TOPMed | |
| rs2074284013 | 547 | T>N | No | TOPMed | |
| rs1469620480 | 547 | T>S | No | gnomAD | |
| rs772077205 | 548 | S>T | No |
TOPMed gnomAD |
|
| rs1209110140 | 551 | N>D | No | gnomAD | |
| rs375278205 | 551 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs746654045 | 554 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs559527301 | 555 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs771412794 | 556 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs771412794 | 556 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2074283753 | 557 | H>Q | No | TOPMed | |
| rs745827633 | 558 | L>R | No |
ExAC gnomAD |
|
| rs778663508 | 559 | G>A | No |
ExAC gnomAD |
|
| rs2074283630 | 562 | N>K | No | Ensembl | |
| rs202059106 | 562 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1352392293 | 563 | N>I | No |
TOPMed gnomAD |
|
| rs2074283577 | 563 | N>K | No | Ensembl | |
| rs749133264 | 564 | F>V | No |
ExAC gnomAD |
|
| COSM3889270 | 566 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567557925 | 567 | P>L | No |
TOPMed gnomAD |
|
|
rs1273463426 COSM75517 |
568 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs61735348 | 570 | V>G | No | Ensembl | |
| rs1186863404 | 570 | V>I | No | gnomAD | |
|
RCV002183559 rs144874188 |
571 | K>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs879174054 | 572 | G>A | No | Ensembl | |
| rs879174054 | 572 | G>D | No | Ensembl | |
| rs1253326977 | 574 | A>V | No | gnomAD | |
| rs754964835 | 575 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2074283177 | 576 | A>G | No | TOPMed | |
| rs1275003124 | 579 | S>L | No | gnomAD | |
| rs2074282995 | 584 | A>E | No | TOPMed | |
| TCGA novel | 584 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 585 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 585 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4063898 | 586 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765585804 | 587 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001882080 COSM75516 rs765585804 |
587 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 590 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1436175324 | 590 | S>R | No | gnomAD | |
|
rs910043735 RCV001902906 |
591 | V>F | No |
ClinVar TOPMed dbSNP |
|
|
RCV002048169 rs774944595 |
592 | S>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2074282661 | 594 | W>C | No | gnomAD | |
|
RCV000195183 CA209835 rs797045728 |
601 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1338570819 | 604 | E>G | No | TOPMed | |
| rs369547729 | 604 | E>K | No |
TOPMed gnomAD |
|
| rs369547729 | 604 | E>Q | No |
TOPMed gnomAD |
|
| COSM6080086 | 606 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 606 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745326878 | 608 | G>E | No |
ExAC gnomAD |
|
| rs2142404511 | 610 | Y>H | No | Ensembl | |
| rs78119755 | 612 | K>N | No |
ExAC gnomAD |
|
| COSM1302408 | 613 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001311872 rs2074282243 |
613 | S>F | No |
ClinVar Ensembl dbSNP |
|
| rs779771513 | 615 | N>S | No |
TOPMed gnomAD |
|
| rs1182364699 | 617 | L>P | No | gnomAD | |
| rs771039713 | 620 | H>D | No |
ExAC gnomAD |
|
| rs376213006 | 621 | L>F | No |
ESP ExAC gnomAD |
|
| rs2074281950 | 621 | L>R | No | Ensembl | |
| rs577286168 | 622 | Y>C | No |
1000Genomes ExAC |
|
| rs200109349 | 624 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1219035969 | 626 | A>G | No | gnomAD | |
| rs370119974 | 627 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765604070 | 628 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1410911334 | 628 | A>T | No | gnomAD | |
| rs765604070 | 628 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1422195680 | 629 | D>N | No |
TOPMed gnomAD |
|
| rs1422195680 | 629 | D>Y | No |
TOPMed gnomAD |
|
| rs775242658 | 630 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs764508115 | 632 | S>C | No |
ExAC gnomAD |
|
| rs764508115 | 632 | S>G | No |
ExAC gnomAD |
|
| rs147810911 | 632 | S>N | No |
ESP ExAC |
|
| rs1597487872 | 633 | G>R | No | Ensembl | |
| rs2074280129 | 636 | K>E | No | gnomAD | |
| rs1464698358 | 636 | K>N | No | gnomAD | |
| rs1597487863 | 636 | K>T | No | Ensembl | |
| rs1266806939 | 638 | A>T | No | gnomAD | |
| rs751157272 | 639 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs751157272 | 639 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs766009153 | 641 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2074279908 | 643 | S>A | No | TOPMed | |
| rs1364398512 | 643 | S>F | No | gnomAD | |
| rs1298554270 | 644 | S>F | No | gnomAD | |
| COSM3514031 | 646 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975399 | 649 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975398 | 649 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772816480 | 651 | L>H | No |
ExAC gnomAD |
|
| rs2074279744 | 652 | F>S | No | TOPMed | |
| rs2074279693 | 653 | R>S | No | TOPMed | |
| rs2074269599 | 654 | E>K | No | Ensembl | |
| rs2142402201 | 657 | N>H | No | Ensembl | |
|
RCV002048763 rs2074269333 |
660 | M>I | No |
ClinVar Ensembl dbSNP |
|
| rs1211120745 | 660 | M>L | No |
TOPMed gnomAD |
|
| rs1189922945 | 667 | H>D | No | gnomAD | |
| rs1485718663 | 667 | H>Q | No |
TOPMed gnomAD |
|
| rs575539295 | 671 | V>M | No | Ensembl | |
| COSM4402599 | 674 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776570006 | 674 | I>T | No |
ExAC gnomAD |
|
|
RCV002001468 rs2142402107 |
676 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs748649963 | 677 | N>S | No |
ExAC gnomAD |
|
| rs1185175864 | 678 | E>K | No | TOPMed | |
| rs1567557178 | 681 | T>A | No | Ensembl | |
| rs984000347 | 683 | G>A | No |
TOPMed gnomAD |
|
| rs984000347 | 683 | G>E | No |
TOPMed gnomAD |
|
| rs1210336304 | 684 | A>S | No | gnomAD | |
| rs756738389 | 684 | A>V | No |
ExAC gnomAD |
|
|
RCV001754656 rs2142401886 |
685 | M>I | No |
ClinVar Ensembl dbSNP |
|
| rs1597487139 | 685 | M>V | No | Ensembl | |
| rs753754260 | 686 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs764136105 | 689 | L>F | No |
ExAC gnomAD |
|
| rs1356747333 | 689 | L>R | No |
TOPMed gnomAD |
|
| rs1312988299 | 690 | V>I | No | gnomAD | |
| rs774638977 | 691 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs1301510769 | 693 | Q>* | No | gnomAD | |
|
rs943488185 COSM1479223 |
695 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs767298033 | 695 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM3514030 | 698 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000483827 rs1064796483 CA16620328 |
700 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs749426283 | 704 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs745848183 | 704 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1190309308 | 705 | I>V | No | gnomAD | |
| rs781691679 | 713 | R>S | No |
ExAC gnomAD |
|
| rs1350247420 | 715 | L>V | No | TOPMed | |
| rs1265575040 | 716 | Y>C | No | gnomAD | |
| rs1567557020 | 717 | G>S | No | Ensembl | |
|
COSM3514029 rs756833381 |
718 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs756833381 | 718 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs2074266789 | 720 | K>E | No | TOPMed | |
| rs1437758741 | 721 | Q>K | No | gnomAD | |
|
RCV001069683 rs899460390 |
723 | Y>* | No |
ClinVar Ensembl dbSNP |
|
|
rs763239874 RCV002029632 |
724 | R>* | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM4806951 | 724 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1198015651 | 725 | V>M | No | gnomAD | |
| rs1204271883 | 727 | N>D | No | TOPMed | |
| rs2074262623 | 728 | A>V | No | Ensembl | |
|
rs535930727 RCV001908802 |
729 | S>N | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs939776584 | 730 | A>V | No |
TOPMed gnomAD |
|
| rs1482553141 | 731 | I>V | No |
TOPMed gnomAD |
|
| rs1271990522 | 733 | E>D | No |
TOPMed gnomAD |
|
| rs140410844 | 735 | Q>P | No |
1000Genomes ExAC gnomAD |
|
| rs2074262247 | 737 | I>T | No | TOPMed | |
| rs1344155047 | 739 | S>N | No | gnomAD | |
| rs200621570 | 740 | K>R | No | 1000Genomes | |
| COSM4063895 | 740 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074262026 | 745 | K>Q | No | Ensembl | |
| rs2074261951 | 748 | A>V | No |
TOPMed gnomAD |
|
| rs1197401922 | 749 | S>Y | No | TOPMed | |
| rs1326347128 | 752 | I>V | No |
TOPMed gnomAD |
|
| rs2074261722 | 754 | H>Y | No | Ensembl | |
| rs934822593 | 755 | T>I | No | Ensembl | |
| rs1892751779 | 756 | Q>R | No | gnomAD | |
| rs144207113 | 762 | T>S | No |
ESP TOPMed |
|
| rs573273231 | 763 | K>N | No | gnomAD | |
| TCGA novel | 764 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1228696043 | 767 | K>R | No | TOPMed | |
|
RCV001968834 rs2074260216 |
768 | A>P | No |
ClinVar TOPMed dbSNP |
|
| rs2074260182 | 768 | A>V | No | gnomAD | |
|
RCV001815814 rs2142400622 |
769 | G>D | No |
ClinVar Ensembl dbSNP |
|
| rs761252963 | 770 | L>F | No |
ExAC gnomAD |
|
| rs2074260106 | 770 | L>S | No |
TOPMed gnomAD |
|
| rs1409215667 | 771 | L>P | No | gnomAD | |
| rs2074259987 | 773 | T>N | No | TOPMed | |
| COSM262219 | 776 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 776 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1472948301 | 777 | M>V | No | gnomAD | |
| rs775803901 | 778 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs767947961 | 778 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs775803901 | 778 | R>W | No |
ExAC TOPMed gnomAD |
|
|
RCV001255060 RCV001879927 rs372983228 |
781 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs138308402 | 781 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1282318265 | 783 | A>V | No | gnomAD | |
| rs963781133 | 784 | K>R | No |
TOPMed gnomAD |
|
| rs963781133 | 784 | K>T | No |
TOPMed gnomAD |
|
| rs2074259336 | 786 | I>V | No | Ensembl | |
| rs1450198236 | 787 | T>I | No | gnomAD | |
| rs747794027 | 788 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1367009636 | 788 | R>W | No | gnomAD | |
| rs374382907 | 793 | C>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1343338130 | 793 | C>Y | No |
TOPMed gnomAD |
|
|
rs370795501 RCV002001557 |
795 | G>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2074258941 | 795 | G>R | No |
TOPMed gnomAD |
|
| rs370795501 | 795 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1057518547 CA16043038 RCV000414610 |
797 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs746986821 | 798 | M>T | No |
ExAC gnomAD |
|
|
COSM975395 rs146342659 RCV001093238 |
799 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs745696071 | 799 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs146342659 | 799 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs778842099 | 801 | E>* | No |
ExAC gnomAD |
|
| rs1314094309 | 802 | F>S | No | TOPMed | |
| rs2074258621 | 803 | Q>R | No | Ensembl | |
| rs1357095320 | 805 | M>I | No | Ensembl | |
| rs1464881583 | 805 | M>K | No | gnomAD | |
| rs757623678 | 806 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs757623678 | 806 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs1054686689 | 808 | R>K | No | Ensembl | |
|
RCV002027961 rs1489090477 |
811 | S>Y | No |
ClinVar dbSNP gnomAD |
|
| rs775038593 | 814 | C>G | No | ExAC | |
| COSM1302407 | 815 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074257403 | 817 | Y>C | No | Ensembl | |
| rs2074257359 | 819 | I>F | No | TOPMed | |
| rs2074257359 | 819 | I>V | No | TOPMed | |
|
RCV001937314 COSM975394 rs1348894326 |
820 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs1220315724 | 820 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs903313088 | 821 | S>L | No | Ensembl | |
| rs757063447 | 824 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs745799647 | 824 | N>S | No |
ExAC gnomAD |
|
| rs1303327896 | 828 | W>* | No | gnomAD | |
| COSM6145565 | 828 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 829 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074256832 | 830 | W>* | No | gnomAD | |
| rs1165655934 | 831 | M>I | No | TOPMed | |
| rs1597486466 | 832 | K>N | No | Ensembl | |
| COSM1302406 | 834 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1370821026 | 840 | L>F | No | gnomAD | |
| rs1470250363 | 842 | K>R | No |
TOPMed gnomAD |
|
|
COSM1380845 rs1035337949 |
844 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs111890466 | 846 | T>A | No | Ensembl | |
| rs763261262 | 847 | E>G | No |
ExAC gnomAD |
|
| TCGA novel | 849 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074256170 | 851 | A>T | No | TOPMed | |
| rs750753412 | 852 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs763698464 | 852 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs774934408 | 853 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2074255917 | 854 | K>K* | No | Ensembl | |
| rs2074255955 | 854 | K>N | No | Ensembl | |
| rs909880651 | 854 | K>R | No |
TOPMed gnomAD |
|
| COSM2925537 | 856 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074255870 | 856 | E>Q | No | TOPMed | |
| rs771548234 | 861 | K>R | No |
ExAC gnomAD |
|
| rs141075437 | 862 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1479779870 | 862 | D>Y | No | gnomAD | |
| COSM6145566 | 863 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1171213346 | 864 | L>F | No | gnomAD | |
| rs2074255529 | 864 | L>R | No | gnomAD | |
| rs749135269 | 865 | A>S | No |
ExAC gnomAD |
|
|
COSM3818809 rs749135269 |
865 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs931202764 | 867 | S>A | No | TOPMed | |
| rs777604042 | 867 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1039507853 | 869 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| TCGA novel | 871 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM975393 rs1380858818 |
873 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1064793203 RCV000479373 CA16620327 |
874 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs781144528 | 874 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2074254978 | 876 | E>D | No | TOPMed | |
| COSM3514024 | 876 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1406016881 | 877 | K>N | No | gnomAD | |
| rs1466835112 | 877 | K>T | No | gnomAD | |
| rs2074254762 | 882 | V>D | No | Ensembl | |
| rs780575010 | 883 | Q>R | No |
ExAC gnomAD |
|
| COSM975392 | 884 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1378829842 | 884 | E>D | No | TOPMed | |
| TCGA novel | 886 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 889 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10586030 RCV000238753 rs879255375 RCV002518516 |
890 | L>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2074254437 | 891 | Q>P | No | Ensembl | |
| rs976568229 | 894 | A>D | No | TOPMed | |
| rs976568229 | 894 | A>G | No | TOPMed | |
| rs2074251335 | 895 | E>K | No | Ensembl | |
| rs111446852 | 896 | S>R | No |
ExAC TOPMed gnomAD |
|
|
COSM5029856 rs1265665989 |
897 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs751174665 | 898 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs765984424 | 899 | L>F | No |
ExAC gnomAD |
|
| rs1185406817 | 899 | L>S | No |
TOPMed gnomAD |
|
| rs1185406817 | 899 | L>W | No |
TOPMed gnomAD |
|
| TCGA novel | 903 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs989190842 | 905 | R>I | No | Ensembl | |
| rs773153080 | 906 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 907 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764971746 | 907 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1318197712 | 907 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM1709896 | 908 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1392891654 | 910 | I>N | No | gnomAD | |
| rs761704793 | 915 | Q>H | No |
ExAC gnomAD |
|
| rs2074250740 | 916 | L>F | No | TOPMed | |
| rs747225470 | 917 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs772084735 | 918 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1398601233 | 922 | E>D | No | gnomAD | |
| rs2074250489 | 923 | V>A | No | TOPMed | |
| rs746388623 | 923 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs749711549 | 925 | E>D | No |
ExAC gnomAD |
|
| rs757675013 | 925 | E>G | No |
ExAC gnomAD |
|
| rs1207773589 | 926 | R>G | No | gnomAD | |
| rs1271667628 | 926 | R>K | No | TOPMed | |
| rs1159535284 | 927 | A>V | No | gnomAD | |
| rs2074250235 | 929 | D>E | No |
TOPMed gnomAD |
|
| rs2074250183 | 931 | E>D | No | Ensembl | |
|
rs777648005 RCV001922184 |
934 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001752085 rs766008807 |
936 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs148835368 RCV001973423 |
938 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1235887274 | 939 | A>S | No |
TOPMed gnomAD |
|
| rs1165928045 | 943 | K>N | No | gnomAD | |
| rs1476504095 | 945 | E>D | No | Ensembl | |
| rs1478996807 | 945 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1187394345 | 946 | D>G | No | TOPMed | |
| TCGA novel | 947 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1476908592 | 948 | C>R | No |
TOPMed gnomAD |
|
| rs761639679 | 949 | S>L | No |
ExAC gnomAD |
|
| rs572129607 | 951 | L>H | No |
1000Genomes ExAC gnomAD |
|
| rs763808423 | 952 | K>R | No |
ExAC gnomAD |
|
| COSM4063893 | 953 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs186832966 | 955 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1436860220 | 956 | D>A | No |
TOPMed gnomAD |
|
| rs1436860220 | 956 | D>G | No |
TOPMed gnomAD |
|
| rs772174746 | 957 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1486032450 | 958 | L>F | No | gnomAD | |
| COSM1302405 | 959 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264242216 | 963 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2074249367 | 963 | A>V | No | TOPMed | |
|
RCV001981908 rs375927710 |
965 | V>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1343644391 | 966 | E>A | No |
TOPMed gnomAD |
|
| rs1343644391 | 966 | E>G | No |
TOPMed gnomAD |
|
| rs771527582 | 968 | E>Q | No |
ExAC gnomAD |
|
| rs1448968320 | 969 | K>Q | No |
TOPMed gnomAD |
|
| rs960843773 | 970 | H>D | No |
TOPMed gnomAD |
|
| rs1335377609 | 970 | H>R | No | gnomAD | |
| rs960843773 | 970 | H>Y | No |
TOPMed gnomAD |
|
| rs866339635 | 971 | A>T | No | Ensembl | |
| TCGA novel | 972 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1005751900 | 973 | E>K | No | Ensembl | |
|
rs2142398630 RCV001754000 |
975 | K>T | No |
ClinVar Ensembl dbSNP |
|
| rs1303213475 | 977 | K>N | No |
TOPMed gnomAD |
|
| COSM4063892 | 981 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770850703 | 981 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2074247984 | 984 | S>C | No | TOPMed | |
| TCGA novel | 985 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773813060 | 985 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs773813060 | 985 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs1472919523 | 987 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 988 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 988 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074247769 | 989 | T>A | No | Ensembl | |
| rs2142398393 | 990 | I>T | No | Ensembl | |
| rs2074247709 | 992 | K>E | No | gnomAD | |
|
rs748571982 TCGA novel |
993 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs781677634 | 994 | T>I | No |
ExAC gnomAD |
|
| rs771820066 | 995 | R>I | No |
ExAC gnomAD |
|
| rs2074247515 | 996 | E>Q | No | Ensembl | |
| rs1461228099 | 997 | K>E | No |
TOPMed gnomAD |
|
| rs149933943 | 997 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2142398325 | 998 | K>E | No | Ensembl | |
| rs1225079416 | 998 | K>N | No | TOPMed | |
| rs2142398317 | 998 | K>T | No | Ensembl | |
| rs778496251 | 999 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs778496251 | 999 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs753806909 | 1001 | Q>* | No |
ExAC gnomAD |
|
| rs777731765 | 1003 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 1006 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1289314190 | 1007 | A>S | No |
TOPMed gnomAD |
|
| rs2074247190 | 1011 | L>V | No | gnomAD | |
| rs767212119 | 1013 | A>T | No |
ExAC gnomAD |
|
| rs142778723 | 1014 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs766510090 | 1016 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs766510090 | 1016 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs763164602 | 1017 | K>E | No |
ExAC gnomAD |
|
| rs1597485855 | 1017 | K>T | No | Ensembl | |
| rs1163381969 | 1018 | V>I | No |
TOPMed gnomAD |
|
| rs113678512 | 1019 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs113678512 RCV001902242 |
1019 | N>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs770477653 | 1020 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs555880397 | 1021 | L>S | No |
TOPMed gnomAD |
|
| rs762402646 | 1022 | N>D | No |
ExAC gnomAD |
|
| rs2074246866 | 1022 | N>K | No | Ensembl | |
| rs1223840945 | 1026 | S>G | No | gnomAD | |
| rs773838168 | 1028 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs770589766 | 1031 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs777252035 | 1034 | D>V | No |
ExAC gnomAD |
|
| rs748935017 | 1035 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs2074245744 | 1037 | S>N | No | Ensembl | |
|
rs1369149141 COSM4400821 |
1038 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs772713546 | 1039 | L>V | No |
ExAC gnomAD |
|
|
rs2074245650 TCGA novel |
1040 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2074245650 | 1040 | E>Q | No | TOPMed | |
| rs1353280413 | 1041 | Q>H | No | gnomAD | |
|
rs2074245603 RCV001256082 |
1042 | E>G | No |
ClinVar TOPMed dbSNP |
|
| rs111606465 | 1044 | K>M | No | TOPMed | |
| TCGA novel | 1045 | L>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748108904 | 1046 | R>* | No |
ExAC TOPMed gnomAD |
|
|
rs2142397845 RCV001918173 |
1046 | R>H | No |
ClinVar Ensembl dbSNP |
|
|
RCV001866392 rs2142397817 |
1047 | V>I | No |
ClinVar Ensembl dbSNP |
|
| rs542491960 | 1047 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1050 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM975390 | 1050 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074245293 | 1052 | N>H | No | TOPMed | |
| TCGA novel | 1053 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1053 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750612161 | 1053 | K>Q | No |
ExAC gnomAD |
|
| rs371579892 | 1058 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs886052582 | 1058 | G>V | No |
TOPMed gnomAD |
|
| rs1204301729 | 1059 | D>G | No | gnomAD | |
| TCGA novel | 1059 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074245048 | 1060 | L>V | No | Ensembl | |
| COSM6145567 | 1061 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs76525125 | 1061 | K>R | No |
ExAC gnomAD |
|
| rs1250857874 | 1063 | A>G | No | gnomAD | |
| rs2074244842 | 1064 | Q>E | No | TOPMed | |
| TCGA novel | 1065 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775785344 | 1067 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs200537879 | 1067 | I>M | No |
1000Genomes gnomAD |
|
| rs775785344 | 1067 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2074244711 | 1069 | D>G | No | gnomAD | |
| rs767803243 | 1071 | E>Q | No |
ExAC gnomAD |
|
| rs2074244577 | 1073 | D>E | No | Ensembl | |
| rs762609127 | 1073 | D>N | No |
ExAC gnomAD |
|
| rs2074244499 | 1075 | Q>* | No | TOPMed | |
| rs769402735 | 1075 | Q>H | No |
ExAC gnomAD |
|
| rs527528090 | 1076 | Q>* | No |
1000Genomes ExAC gnomAD |
|
| rs1364615302 | 1076 | Q>H | No | gnomAD | |
| rs776191435 | 1078 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2142397504 | 1079 | E>D | No | Ensembl | |
|
COSM4400433 rs1386928218 |
1079 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1195705565 | 1080 | R>S | No |
TOPMed gnomAD |
|
| COSM84378 | 1082 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1041065255 | 1082 | K>Q | No | Ensembl | |
| rs1164016882 | 1083 | K>N | No | gnomAD | |
| rs1383306209 | 1085 | D>G | No |
TOPMed gnomAD |
|
|
COSM975389 rs753191024 |
1085 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs759856442 | 1086 | F>C | No |
ExAC gnomAD |
|
| rs759856442 | 1086 | F>S | No |
ExAC gnomAD |
|
| rs2074243370 | 1089 | C>R | No | TOPMed | |
| rs144312976 | 1090 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs577625304 | 1093 | S>T | No | 1000Genomes | |
| rs2074243219 | 1094 | K>E | No | TOPMed | |
| rs149626226 | 1096 | E>A | No | ESP | |
| rs936470696 | 1096 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 1098 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074243127 | 1100 | T>I | No | TOPMed | |
| rs1224727596 | 1101 | L>P | No |
TOPMed gnomAD |
|
| rs2074243004 | 1102 | G>S | No | Ensembl | |
| rs2074242977 | 1103 | L>H | No | Ensembl | |
| rs2074242922 | 1104 | Q>P | No |
TOPMed gnomAD |
|
| rs1359087901 | 1107 | K>N | No | gnomAD | |
| TCGA novel | 1107 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074242781 | 1109 | I>N | No | Ensembl | |
| rs2074242754 | 1110 | K>R | No | TOPMed | |
| rs1482506654 | 1111 | E>D | No | TOPMed | |
| rs372969350 | 1111 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074242639 | 1113 | Q>K | No | TOPMed | |
| rs767621798 | 1114 | A>P | No |
ExAC gnomAD |
|
| rs1171959300 | 1115 | R>* | No | TOPMed | |
| rs748991696 | 1115 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs774293212 | 1116 | I>T | No |
ExAC gnomAD |
|
| rs1407060765 | 1118 | E>* | No |
TOPMed gnomAD |
|
| rs1175337655 | 1118 | E>G | No |
TOPMed gnomAD |
|
| rs1407060765 | 1118 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1175337655 | 1118 | E>V | No |
TOPMed gnomAD |
|
| rs749498434 | 1119 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs749498434 | 1119 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM3514022 | 1120 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1121 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769878715 | 1123 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1214678069 | 1123 | I>T | No | TOPMed | |
| rs1326248221 | 1124 | E>K | No | gnomAD | |
| COSM6002955 | 1125 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM975388 rs953986060 |
1125 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs781241773 | 1128 | A>T | No |
ExAC gnomAD |
|
| rs747453979 | 1129 | T>S | No |
ExAC gnomAD |
|
| rs199517883 | 1130 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs199517883 RCV000904589 |
1130 | R>G | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs532906457 | 1131 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752323339 | 1131 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1134 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370363739 | 1136 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs150492596 | 1137 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs150492596 | 1137 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1463075095 | 1138 | S>G | No | gnomAD | |
| rs142687423 | 1138 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200584758 | 1138 | S>R | No |
TOPMed gnomAD |
|
| rs937765508 | 1139 | D>E | No | Ensembl | |
| rs1054769630 | 1139 | D>G | No | TOPMed | |
|
rs138631084 COSM4063891 |
1139 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs768673011 | 1140 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs776701589 | 1140 | Y>H | No |
ExAC gnomAD |
|
| rs1430754169 | 1141 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2074236681 | 1142 | R>Q | No |
TOPMed gnomAD |
|
| rs377485236 | 1142 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074236616 | 1143 | E>Q | No | Ensembl | |
| TCGA novel | 1145 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351684695 RCV001990624 |
1146 | E>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1351684695 | 1146 | E>K | No |
TOPMed gnomAD |
|
| rs1567555274 | 1147 | L>E* | No | Ensembl | |
| rs1597485247 | 1147 | L>R | No | Ensembl | |
| rs1346509006 | 1148 | S>T | No | gnomAD | |
| rs145785711 | 1149 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001818704 rs752339755 RCV000895588 |
1150 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766391527 | 1152 | E>G | No |
ExAC gnomAD |
|
| rs762792358 | 1153 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs369555448 | 1154 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs762041386 | 1155 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs202057477 | 1157 | V>F | No |
1000Genomes ExAC gnomAD |
|
| rs202057477 | 1157 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs202057477 | 1157 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs1410696528 | 1159 | S>F | No |
TOPMed gnomAD |
|
| rs1226581046 | 1160 | T>A | No | gnomAD | |
| rs145080512 | 1160 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1358015250 | 1161 | Q>H | No | TOPMed | |
|
RCV001882971 rs779349540 |
1162 | I>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1429353686 | 1162 | I>V | No |
TOPMed gnomAD |
|
| rs1597485175 | 1163 | E>K | No | Ensembl | |
| rs1597485174 | 1163 | E>V | No | Ensembl | |
| rs2074235438 | 1166 | K>E | No | TOPMed | |
| rs2074235402 | 1167 | K>M | No | Ensembl | |
|
rs558085793 COSM4778328 |
1168 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs771377160 | 1168 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2074235201 | 1169 | E>K | No | Ensembl | |
|
COSM2925522 rs373367650 |
1170 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs954100587 | 1172 | F>L | No | Ensembl | |
| rs779360957 | 1175 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1422222290 | 1176 | R>C | No |
TOPMed gnomAD |
|
| rs143550129 | 1176 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
|
rs143550129 RCV001209394 |
1176 | R>P | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2074234803 | 1177 | R>W | No | Ensembl | |
| COSM3889268 | 1178 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375904355 | 1179 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1567555174 | 1180 | E>G | No | Ensembl | |
| rs371236845 | 1181 | E>D | No |
ESP TOPMed gnomAD |
|
| rs753607322 | 1182 | A>V | No |
ExAC gnomAD |
|
| rs760805440 | 1183 | T>I | No | ExAC | |
| rs764355997 | 1183 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs764355997 | 1183 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1309206150 | 1184 | L>M | No | gnomAD | |
| rs1213481518 | 1186 | H>D | No | gnomAD | |
| rs1213481518 | 1186 | H>N | No | gnomAD | |
| rs199527777 | 1186 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2074234021 | 1187 | E>G | No | Ensembl | |
|
COSM262218 rs557068462 |
1187 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs778272023 | 1189 | M>V | No |
ExAC gnomAD |
|
|
RCV001897111 rs2142395389 |
1190 | V>missing | No |
ClinVar dbSNP |
|
| rs145605656 | 1192 | A>V | No |
ESP ExAC gnomAD |
|
| TCGA novel | 1193 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1465562832 | 1194 | R>K | No | gnomAD | |
| rs1421655910 | 1195 | K>Q | No |
TOPMed gnomAD |
|
|
RCV001969978 rs2142395345 |
1197 | H>R | No |
ClinVar Ensembl dbSNP |
|
| rs749917598 | 1197 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1383114785 | 1199 | D>A | No | gnomAD | |
| rs1389469760 | 1199 | D>Y | No |
TOPMed gnomAD |
|
| rs371764244 | 1200 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1456368635 | 1202 | A>S | No |
TOPMed gnomAD |
|
| rs1223550924 | 1203 | E>* | No |
TOPMed gnomAD |
|
| rs368299686 | 1203 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1223550924 COSM3514019 |
1203 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1223550924 | 1203 | E>Q | No |
TOPMed gnomAD |
|
| rs775589488 | 1204 | L>F | No | Ensembl | |
|
rs1057518008 RCV002248647 CA16043037 RCV000413850 |
1204 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2074233215 | 1205 | G>E | No | Ensembl | |
| rs959182840 | 1206 | E>A | No | TOPMed | |
| rs1217842356 | 1208 | I>T | No |
TOPMed gnomAD |
|
| rs767053474 | 1209 | D>G | No |
ExAC gnomAD |
|
| rs2074232994 | 1212 | Q>R | No | Ensembl | |
|
RCV001934848 rs773055884 |
1213 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs770230539 | 1213 | R>W | No |
ExAC gnomAD |
|
| rs1377287179 | 1214 | V>D | No | gnomAD | |
| rs1377287179 | 1214 | V>G | No | gnomAD | |
| rs2142395131 | 1216 | Q>* | No | Ensembl | |
| rs775044986 | 1217 | K>* | No |
ExAC gnomAD |
|
| rs1421092166 | 1218 | L>V | No |
TOPMed gnomAD |
|
| rs1419329507 | 1220 | K>E | No | gnomAD | |
| TCGA novel | 1221 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1408501571 | 1222 | K>N | No | gnomAD | |
| rs1187682936 | 1223 | S>N | No |
TOPMed gnomAD |
|
| rs1462373593 | 1223 | S>R | No |
TOPMed gnomAD |
|
| rs1177743320 | 1224 | E>* | No |
TOPMed gnomAD |
|
|
rs1177743320 COSM124605 |
1224 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1244844447 | 1227 | L>R | No | gnomAD | |
| rs1203770918 | 1228 | E>D | No | gnomAD | |
| rs778389007 | 1229 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs757191850 | 1230 | D>N | No |
ExAC TOPMed gnomAD |
|
| COSM705060 | 1231 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749167181 | 1233 | S>F | No |
ExAC gnomAD |
|
| rs749167181 | 1233 | S>Y | No |
ExAC gnomAD |
|
| TCGA novel | 1234 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1235 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217577716 | 1235 | S>T | No |
TOPMed gnomAD |
|
|
rs368735855 RCV001756847 |
1236 | M>T | No |
ClinVar ESP ExAC dbSNP gnomAD |
|
| rs2074232288 | 1237 | E>* | No | gnomAD | |
|
RCV001980744 rs2142394959 |
1238 | S>R | No |
ClinVar Ensembl dbSNP |
|
| rs1169538977 | 1239 | V>A | No | gnomAD | |
| rs755825498 | 1239 | V>M | No |
ExAC gnomAD |
|
| rs551363957 | 1240 | S>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs551363957 RCV002101965 |
1240 | S>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1242 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1398425401 | 1245 | N>D | No | gnomAD | |
| rs2074230472 | 1246 | L>V | No | TOPMed | |
| rs770539752 | 1247 | E>* | No |
ExAC gnomAD |
|
| rs770539752 | 1247 | E>K | No |
ExAC gnomAD |
|
| rs150652332 | 1248 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1449708494 | 1251 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1449708494 | 1251 | R>G | No |
TOPMed gnomAD |
|
| rs1388511372 | 1251 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs748053676 | 1254 | E>* | No |
ExAC gnomAD |
|
| rs748053676 | 1254 | E>K | No |
ExAC gnomAD |
|
| rs1597484822 | 1255 | D>V | No | Ensembl | |
| rs780868327 | 1258 | S>G | No |
ExAC gnomAD |
|
|
RCV002045682 rs768454794 |
1258 | S>I | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs2074230084 | 1258 | S>R | No | gnomAD | |
| rs746765256 | 1259 | E>D | No |
ExAC gnomAD |
|
| rs780469149 | 1260 | A>D | No |
ExAC gnomAD |
|
| rs2074230018 | 1260 | A>S | No |
TOPMed gnomAD |
|
| rs780469149 | 1260 | A>V | No |
ExAC gnomAD |
|
| rs1200031599 | 1261 | R>S | No | gnomAD | |
| rs758679683 | 1262 | G>S | No |
ExAC gnomAD |
|
|
RCV001351463 rs1050022679 |
1262 | G>V | No |
ClinVar dbSNP gnomAD |
|
| rs932806360 | 1264 | N>Y | No | Ensembl | |
| rs2074229767 | 1269 | R>K | No | Ensembl | |
| rs1433493859 | 1270 | S>N | No | TOPMed | |
|
RCV000908786 rs1043778598 |
1273 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs1275605630 | 1275 | T>S | No | gnomAD | |
|
RCV001924868 rs764398216 |
1277 | Q>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1329203346 | 1277 | Q>R | No |
TOPMed gnomAD |
|
| rs2074229447 | 1279 | S>F | No | TOPMed | |
| rs745487226 | 1280 | R>C | No |
ExAC gnomAD |
|
| rs148568052 | 1280 | R>H | No |
ESP TOPMed gnomAD |
|
| rs1567554809 | 1281 | L>F | No | TOPMed | |
| rs753042145 | 1281 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1296818469 | 1281 | L>W | No | Ensembl | |
| rs766082880 | 1282 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1370382043 | 1282 | Q>R | No |
TOPMed gnomAD |
|
| rs1241844348 | 1285 | A>T | No | TOPMed | |
| rs1446944254 | 1286 | G>D | No | gnomAD | |
| rs371145272 | 1287 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs760622256 | 1288 | L>R | No |
ExAC gnomAD |
|
| rs143671201 | 1289 | S>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs143671201 | 1289 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1352788534 | 1290 | R>C | No |
TOPMed gnomAD |
|
| rs746109263 | 1290 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs746109263 | 1290 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1453726627 | 1292 | L>M | No | TOPMed | |
| rs774676550 | 1295 | K>I | No |
ExAC TOPMed gnomAD |
|
| rs771036829 | 1295 | K>N | No |
ExAC TOPMed gnomAD |
|
| COSM3818807 | 1296 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749446818 | 1297 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs749446818 | 1297 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1445116129 | 1298 | I>T | No |
TOPMed gnomAD |
|
| rs1324806950 | 1298 | I>V | No |
TOPMed gnomAD |
|
| rs1327832250 | 1299 | V>I | No | gnomAD | |
| rs1392646190 | 1300 | S>T | No | TOPMed | |
| rs376842050 | 1301 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1335060453 | 1301 | Q>R | No | Ensembl | |
| rs748599687 | 1302 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1157210244 | 1303 | S>A | No |
TOPMed gnomAD |
|
| rs755407450 | 1303 | S>C | No |
ExAC gnomAD |
|
| rs755407450 | 1303 | S>F | No |
ExAC gnomAD |
|
| rs1157210244 | 1303 | S>P | No |
TOPMed gnomAD |
|
| TCGA novel | 1305 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1272813611 | 1305 | S>N | No |
TOPMed gnomAD |
|
| rs1162744793 | 1308 | A>T | No |
TOPMed gnomAD |
|
| rs1471817733 | 1312 | Q>R | No |
TOPMed gnomAD |
|
| rs2074209166 | 1313 | T>A | No | Ensembl | |
| rs2074209027 | 1315 | E>K | No | Ensembl | |
|
rs2142390504 RCV001987543 |
1315 | E>M | No |
ClinVar Ensembl dbSNP |
|
| rs2074208973 | 1315 | E>V | No | Ensembl | |
| rs1033025428 | 1316 | L>F | No |
TOPMed gnomAD |
|
|
TCGA novel rs1163696825 |
1317 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1391799554 | 1320 | L>Q | No |
TOPMed gnomAD |
|
| rs2074208713 | 1322 | E>K | No | TOPMed | |
| rs756854121 | 1323 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs2074208670 | 1323 | E>K | No | TOPMed | |
| rs1260820641 | 1325 | K>E | No |
TOPMed gnomAD |
|
| rs1260820641 | 1325 | K>Q | No |
TOPMed gnomAD |
|
| rs201970799 | 1327 | K>Q | No |
ExAC gnomAD |
|
| rs923371415 | 1329 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs143468882 | 1331 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs200128580 | 1332 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2074206605 | 1332 | H>R | No | gnomAD | |
| rs1332160936 | 1332 | H>Y | No | gnomAD | |
| rs200734527 | 1333 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM5017061 rs200734527 |
1333 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1178593976 | 1333 | A>V | No | gnomAD | |
| rs1597483641 | 1334 | L>R | No | Ensembl | |
| rs763262344 | 1335 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs766034952 | 1335 | Q>P | No |
ExAC TOPMed gnomAD |
|
|
RCV001870677 rs766034952 |
1335 | Q>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1017173017 | 1336 | S>P | No | gnomAD | |
|
COSM3514017 rs769977048 |
1337 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs773459031 | 1337 | S>P | No |
ExAC gnomAD |
|
| rs774426434 | 1338 | R>C | No |
TOPMed gnomAD |
|
| rs761937084 | 1338 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs774426434 | 1338 | R>S | No |
TOPMed gnomAD |
|
| rs780488918 | 1340 | D>G | No |
ExAC gnomAD |
|
| rs375989909 | 1340 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs375989909 | 1340 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1343 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772283689 | 1344 | L>M | No |
ExAC TOPMed gnomAD |
|
|
RCV001300605 rs199851477 |
1345 | R>G | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs201436286 | 1345 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199851477 | 1345 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752323461 | 1346 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs780504471 | 1347 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs780504471 | 1347 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1173701829 | 1347 | Q>L | No | gnomAD | |
| rs1173701829 | 1347 | Q>R | No | gnomAD | |
| rs1567553775 | 1348 | Y>N | No | gnomAD | |
| rs754959543 | 1349 | E>D | No |
ExAC gnomAD |
|
| rs1033324060 | 1350 | E>A | No |
TOPMed gnomAD |
|
| TCGA novel | 1350 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1236025508 | 1351 | E>D | No |
TOPMed gnomAD |
|
| rs2074205618 | 1351 | E>K | No | Ensembl | |
| rs574700545 | 1352 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1437714349 | 1352 | Q>H | No | gnomAD | |
| rs2074205483 | 1354 | G>D | No | gnomAD | |
| rs2074205451 | 1356 | A>T | No | TOPMed | |
| TCGA novel | 1359 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074205375 | 1360 | R>T | No | gnomAD | |
| rs2142389855 | 1362 | L>Q | No | Ensembl | |
| COSM3514016 | 1363 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761953625 | 1366 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs761953625 | 1366 | N>T | No |
ExAC TOPMed gnomAD |
|
| COSM4400017 | 1367 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1415834778 | 1367 | S>R | No |
TOPMed gnomAD |
|
| rs2074205143 | 1367 | S>T | No | Ensembl | |
| rs1597483548 | 1368 | E>G | No | Ensembl | |
| rs1037217838 | 1369 | V>A | No |
TOPMed gnomAD |
|
| rs1314982652 | 1370 | A>T | No | gnomAD | |
| rs1597483539 | 1371 | Q>* | No | Ensembl | |
| rs1171688131 | 1371 | Q>H | No | TOPMed | |
| rs1158384514 | 1372 | W>R | No | gnomAD | |
| rs1378736443 | 1373 | R>K | No | gnomAD | |
| rs775885050 | 1375 | K>N | No |
TOPMed gnomAD |
|
| rs112569418 | 1376 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1301376046 | 1376 | Y>H | No | gnomAD | |
| rs1301376046 | 1376 | Y>N | No | gnomAD | |
| rs2074204626 | 1377 | E>D | No | gnomAD | |
|
COSM4063890 rs1567553702 |
1377 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs1360973287 | 1378 | T>K | No |
TOPMed gnomAD |
|
| rs1360973287 | 1378 | T>M | No |
TOPMed gnomAD |
|
| rs146070094 | 1379 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM4063889 | 1380 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772610621 | 1383 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs143574829 | 1383 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074204359 | 1384 | T>I | No | Ensembl | |
| rs769576245 | 1385 | E>G | No |
ExAC gnomAD |
|
| rs774853511 | 1385 | E>K | No |
ExAC gnomAD |
|
| rs774853511 | 1385 | E>Q | No |
ExAC gnomAD |
|
| rs2074204152 | 1386 | E>A | No | Ensembl | |
| rs780780930 | 1386 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780780930 | 1386 | E>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1391 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6145569 rs1488426810 |
1392 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1271370553 | 1393 | K>N | No | gnomAD | |
| rs746354516 | 1394 | L>F | No |
TOPMed gnomAD |
|
| TCGA novel | 1394 | L>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746354516 | 1394 | L>V | No |
TOPMed gnomAD |
|
| COSM975385 | 1395 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1318877792 | 1395 | A>T | No | gnomAD | |
| rs1225495030 | 1396 | Q>H | No | gnomAD | |
| rs747837966 | 1397 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1301679193 | 1397 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1301679193 | 1397 | R>L | No |
TOPMed gnomAD |
|
| rs1048019565 | 1398 | L>F | No | TOPMed | |
| rs1271594487 | 1399 | Q>R | No |
TOPMed gnomAD |
|
| rs768338102 | 1401 | S>A | No |
ExAC gnomAD |
|
| COSM3514015 | 1401 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374733189 | 1402 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1213450323 | 1404 | Q>E | No | TOPMed | |
| rs758342466 | 1405 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs758342466 | 1405 | V>D | No |
ExAC TOPMed gnomAD |
|
|
RCV002272092 rs745755095 |
1406 | E>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1211525214 | 1406 | E>K | No |
TOPMed gnomAD |
|
| COSM3691362 | 1408 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1440518442 | 1410 | A>S | No | Ensembl | |
| rs1379780482 | 1410 | A>V | No | gnomAD | |
| rs370587849 | 1411 | K>I | No |
ESP ExAC gnomAD |
|
| TCGA novel | 1412 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs34026068 | 1413 | A>T | No | Ensembl | |
| rs1180597603 | 1420 | Q>K | No | gnomAD | |
| rs781774391 | 1421 | R>K | No |
TOPMed gnomAD |
|
|
rs2074198845 COSM3514014 |
1424 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs764281850 | 1426 | V>G | No |
ExAC gnomAD |
|
| TCGA novel | 1427 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256403270 | 1427 | E>Q | No | gnomAD | |
| COSM1302403 | 1428 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001880507 rs2074198754 |
1431 | V>A | No |
ClinVar Ensembl dbSNP |
|
| rs1232178971 | 1432 | D>H | No | gnomAD | |
| rs756355226 | 1433 | V>D | No |
ExAC gnomAD |
|
| rs1597483205 | 1434 | E>K | No | Ensembl | |
| rs2074198626 | 1435 | R>I | No |
TOPMed gnomAD |
|
| rs1311445470 | 1436 | A>T | No | gnomAD | |
| rs2074198566 | 1437 | N>S | No | Ensembl | |
| rs1447420349 | 1438 | S>C | No |
TOPMed gnomAD |
|
|
rs1447420349 TCGA novel RCV002276400 |
1438 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs1264393652 | 1438 | S>T | No | Ensembl | |
| rs200429922 | 1439 | L>F | No | 1000Genomes | |
| COSM1563415 | 1440 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752726538 | 1440 | A>V | No |
ExAC gnomAD |
|
| rs201602783 | 1442 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV002125348 rs201602783 |
1442 | A>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1241720844 | 1444 | D>E | No | gnomAD | |
| rs773617707 | 1447 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs934675467 | 1449 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 1451 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326655608 | 1452 | K>E | No |
TOPMed gnomAD |
|
|
RCV000951740 rs567759367 |
1453 | V>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs759104309 | 1453 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs749192578 | 1454 | L>S | No |
ExAC gnomAD |
|
| rs777454111 | 1455 | A>T | No |
ExAC gnomAD |
|
| rs2074191719 | 1457 | W>* | No | TOPMed | |
| rs1455480988 | 1461 | C>G | No |
TOPMed gnomAD |
|
|
TCGA novel rs1455480988 |
1461 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs747867872 | 1461 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1341932698 | 1462 | E>K | No | gnomAD | |
| rs755243121 | 1463 | E>K | No |
ExAC gnomAD |
|
| rs1387935773 | 1464 | S>N | No |
TOPMed gnomAD |
|
| COSM6145570 | 1468 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344964735 | 1469 | E>K | No |
TOPMed gnomAD |
|
| rs1316929314 | 1471 | S>P | No |
TOPMed gnomAD |
|
| rs751690306 | 1471 | S>Y | No |
ExAC gnomAD |
|
| rs2074191231 | 1472 | L>P | No | gnomAD | |
| TCGA novel | 1473 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs941159640 | 1474 | E>K | No | Ensembl | |
| rs2074191101 | 1475 | S>A | No | Ensembl | |
| rs758848489 | 1475 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs765630141 | 1476 | R>C | No |
ExAC gnomAD |
|
|
rs757688078 COSM3402598 |
1476 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs555886574 | 1477 | S>A | No |
1000Genomes TOPMed gnomAD |
|
| rs754188154 | 1477 | S>C | No |
ExAC gnomAD |
|
| rs767224647 | 1479 | S>G | No |
ExAC gnomAD |
|
|
rs2074190834 COSM1380839 |
1479 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs1452084021 | 1480 | T>S | No | gnomAD | |
| COSM975384 | 1481 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs377177046 | 1482 | L>F | No |
ESP ExAC gnomAD |
|
| rs773865770 | 1482 | L>H | No |
ExAC gnomAD |
|
| rs768983728 | 1484 | K>E | No | gnomAD | |
| rs2074190582 | 1485 | L>V | No | TOPMed | |
| rs1217634614 | 1487 | N>S | No | gnomAD | |
| rs2074190503 | 1488 | A>D | No | TOPMed | |
| rs370816135 | 1489 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1268766610 | 1490 | E>K | No |
TOPMed gnomAD |
|
| rs376951520 | 1492 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1325303767 | 1494 | D>A | No |
TOPMed gnomAD |
|
| COSM171380 | 1494 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142387052 | 1495 | Q>* | No | Ensembl | |
| rs776498126 | 1497 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs769009491 | 1497 | E>D | No |
ExAC gnomAD |
|
| rs776498126 | 1497 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs780497482 | 1499 | V>A | No |
TOPMed gnomAD |
|
| rs749816458 | 1499 | V>L | No | Ensembl | |
| COSM4840010 | 1500 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs551438676 | 1501 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1409569353 | 1501 | R>Q | No |
TOPMed gnomAD |
|
| rs551438676 | 1501 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2074189843 | 1503 | N>D | No | TOPMed | |
| TCGA novel | 1503 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1192658336 | 1503 | N>K | No | gnomAD | |
| rs1478332093 | 1505 | N>K | No | gnomAD | |
| rs779530750 | 1508 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs2074186150 | 1509 | E>* | No |
TOPMed gnomAD |
|
| TCGA novel | 1509 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761871162 | 1510 | I>L | No |
ExAC gnomAD |
|
| rs753865328 | 1511 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1310796995 | 1512 | D>E | No | gnomAD | |
| rs1004487948 | 1514 | T>I | No | TOPMed | |
| COSM975383 | 1515 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775143020 | 1518 | A>D | No |
ExAC gnomAD |
|
| rs2074185845 | 1519 | E>K | No | TOPMed | |
| rs1416850043 | 1521 | G>D | No | gnomAD | |
| rs1415325146 | 1523 | T>I | No | gnomAD | |
| rs1738255101 | 1524 | I>V | No | TOPMed | |
| rs557870001 | 1525 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2074185721 | 1530 | S>* | No | Ensembl | |
| rs1257282880 | 1532 | K>N | No | gnomAD | |
| rs2074185633 | 1533 | Q>* | No | Ensembl | |
| rs1209123293 | 1534 | I>F | No |
TOPMed gnomAD |
|
| rs377463916 | 1534 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1342646709 | 1534 | I>T | No |
TOPMed gnomAD |
|
| rs774513052 | 1536 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs749336793 | 1537 | E>* | No |
ExAC gnomAD |
|
| rs749336793 | 1537 | E>K | No |
ExAC gnomAD |
|
| COSM3969812 | 1539 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs888336601 | 1539 | A>P | No |
TOPMed gnomAD |
|
| rs888336601 | 1539 | A>T | No |
TOPMed gnomAD |
|
| rs778304936 | 1542 | Q>H | No |
ExAC gnomAD |
|
| rs770275791 | 1543 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs770275791 | 1543 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1047032918 | 1544 | A>T | No | gnomAD | |
| rs899721074 | 1544 | A>V | No |
TOPMed gnomAD |
|
| rs781349619 | 1546 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
RCV000883836 rs758088341 |
1549 | E>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs778723610 | 1550 | A>G | No |
ExAC gnomAD |
|
| rs747352754 | 1550 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs747352754 | 1550 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs756904508 | 1551 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2074177759 | 1553 | E>* | No | TOPMed | |
| rs1200807089 | 1554 | H>L | No | gnomAD | |
|
rs867636788 RCV000900140 |
1558 | K>R | No |
ClinVar Ensembl dbSNP |
|
| COSM3514010 | 1560 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074177476 | 1560 | L>I | No | Ensembl | |
| rs777408896 | 1561 | R>* | No |
ExAC gnomAD |
|
| rs777408896 | 1561 | R>G | No |
ExAC gnomAD |
|
|
COSM4704612 rs756126166 |
1561 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2074177272 | 1562 | I>M | No | TOPMed | |
| rs2142384574 | 1563 | Q>H | No | Ensembl | |
| rs867172851 | 1563 | Q>L | No |
TOPMed gnomAD |
|
| rs867172851 | 1563 | Q>R | No |
TOPMed gnomAD |
|
| rs752544674 | 1564 | L>I | No |
ExAC gnomAD |
|
| rs752544674 | 1564 | L>V | No |
ExAC gnomAD |
|
| rs2142384542 | 1567 | T>I | No | Ensembl | |
| rs2074177002 | 1568 | Q>K | No | TOPMed | |
| rs1414637462 | 1569 | V>G | No |
TOPMed gnomAD |
|
| rs929625003 | 1570 | K>R | No |
TOPMed gnomAD |
|
| COSM4847320 | 1571 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074176789 | 1571 | S>P | No | TOPMed | |
| rs2074176724 | 1573 | I>V | No | Ensembl | |
| COSM1290630 | 1574 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1295795825 | 1575 | R>G | No | gnomAD | |
| rs751308437 | 1576 | K>N | No |
ExAC gnomAD |
|
| rs766589093 | 1577 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2142384463 | 1577 | I>V | No | 1000Genomes | |
| rs374716942 | 1578 | A>G | No |
ESP ExAC gnomAD |
|
|
rs1326969212 RCV001889515 |
1578 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs761915543 | 1579 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2142384418 | 1579 | E>V | No | Ensembl | |
| rs1449790802 | 1580 | K>E | No | TOPMed | |
| COSM6145571 | 1580 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1583 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1438613515 | 1583 | E>K | No | gnomAD | |
| rs189005323 | 1584 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1250011419 | 1584 | I>N | No | gnomAD | |
|
COSM276212 RCV002037293 rs747340969 |
1585 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs775994277 | 1586 | Q>* | No |
ExAC gnomAD |
|
| rs150867292 | 1586 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074176105 | 1587 | L>M | No | Ensembl | |
| rs748925984 | 1587 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs777465428 | 1588 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs867118659 | 1589 | R>K | No | Ensembl | |
| rs755609238 | 1590 | N>K | No |
ExAC gnomAD |
|
| rs1334651002 | 1591 | Y>H | No |
TOPMed gnomAD |
|
| rs1326525512 | 1592 | Q>E | No |
TOPMed gnomAD |
|
| rs781003211 | 1593 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs2074175783 | 1594 | T>A | No | Ensembl | |
|
rs2074175687 TCGA novel |
1595 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs201706456 | 1595 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs2074175622 | 1596 | E>D | No |
TOPMed gnomAD |
|
| rs758664734 | 1597 | T>A | No |
ExAC gnomAD |
|
| rs750678201 | 1597 | T>N | No |
ExAC gnomAD |
|
| TCGA novel | 1598 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567552249 | 1598 | M>T | No | Ensembl | |
| rs765120779 | 1599 | Q>E | No | Ensembl | |
| rs761815567 | 1599 | Q>R | No |
ExAC gnomAD |
|
| rs1212551788 | 1600 | S>N | No |
TOPMed gnomAD |
|
| rs764578014 | 1601 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs764578014 | 1601 | A>S | No |
ExAC TOPMed gnomAD |
|
|
rs764578014 RCV000996491 COSM1286429 |
1601 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs761232517 | 1601 | A>V | No |
ExAC gnomAD |
|
| rs1209803839 | 1603 | D>N | No | gnomAD | |
| rs201488879 | 1604 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs753794812 | 1604 | A>V | No | gnomAD | |
| rs773019520 | 1605 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs769427779 | 1606 | V>L | No |
ExAC gnomAD |
|
| rs768530639 | 1607 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs143215470 | 1607 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1320926518 | 1608 | S>T | No | gnomAD | |
| rs968027542 | 1610 | N>K | No | TOPMed | |
| rs2074174610 | 1610 | N>S | No | TOPMed | |
| rs200742932 | 1612 | A>D | No |
1000Genomes ExAC gnomAD |
|
|
COSM4063886 rs750163741 |
1614 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2074174260 | 1615 | L>V | No | TOPMed | |
| COSM975381 | 1616 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074174104 | 1619 | M>I | No | TOPMed | |
| rs2074174136 | 1619 | M>T | No | Ensembl | |
| TCGA novel | 1620 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002013943 rs2074173878 |
1621 | G>E | No |
ClinVar Ensembl dbSNP |
|
|
VAR_030383 rs1446303362 |
1622 | D>A | originally found in DA2B3 patients [UniProt] | No |
UniProt dbSNP gnomAD |
|
rs753924310 COSM705062 |
1622 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1268158886 | 1623 | L>M | No | TOPMed | |
| rs1268158886 | 1623 | L>V | No | TOPMed | |
| rs1597481937 | 1624 | N>D | No | Ensembl | |
| rs895203679 | 1625 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs373372168 | 1626 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1211035567 | 1627 | E>A | No | gnomAD | |
| COSM975380 | 1627 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074173555 | 1628 | I>T | No | Ensembl | |
| rs2074173586 | 1628 | I>V | No | Ensembl | |
| rs2074173487 | 1631 | S>C | No | TOPMed | |
|
rs376764120 RCV002041635 |
1631 | S>R | No |
ClinVar TOPMed dbSNP |
|
| rs374056469 | 1633 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1461094460 | 1634 | N>S | No | TOPMed | |
| rs759990440 | 1635 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs759990440 | 1635 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs774787864 COSM2925481 |
1635 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2074173128 | 1636 | Q>K | No | TOPMed | |
| rs1316332773 | 1638 | A>G | No |
TOPMed gnomAD |
|
| rs1316332773 | 1638 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2074172819 | 1639 | E>D | No | TOPMed | |
| rs1007225581 | 1641 | L>P | No | Ensembl | |
| rs2142383749 | 1641 | L>V | No | Ensembl | |
| rs1428159237 | 1642 | K>* | No | TOPMed | |
| rs143396252 | 1642 | K>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2074172552 | 1644 | L>F | No | Ensembl | |
| TCGA novel | 1645 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074172519 | 1645 | R>M | No |
TOPMed gnomAD |
|
| rs1164533479 | 1646 | S>N | No | gnomAD | |
| rs779983666 | 1646 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1186846705 | 1648 | Q>P | No |
TOPMed gnomAD |
|
| rs2074172349 | 1649 | G>R | No | Ensembl | |
| rs1475043587 | 1650 | Q>* | No |
TOPMed gnomAD |
|
| rs927954243 | 1653 | D>A | No | TOPMed | |
| rs1458824400 | 1653 | D>Y | No | gnomAD | |
|
RCV002037074 rs190188728 |
1654 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| COSM6080090 | 1660 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1271299419 | 1662 | L>F | No |
TOPMed gnomAD |
|
|
rs777159320 RCV001899472 |
1663 | R>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs770789998 | 1663 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs777159320 RCV001547635 |
1663 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2074165090 | 1664 | G>C | No | Ensembl | |
| rs748986745 | 1664 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs912678532 | 1665 | Q>E | No | Ensembl | |
| rs2074164931 | 1668 | L>P | No | Ensembl | |
| rs1352595435 | 1670 | E>D | No |
TOPMed gnomAD |
|
| rs748302259 | 1671 | Q>H | No |
ExAC gnomAD |
|
| rs781405511 | 1673 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs2074164700 | 1673 | A>T | No | TOPMed | |
| rs781405511 | 1673 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1420430206 | 1674 | I>T | No |
TOPMed gnomAD |
|
| rs1171669842 | 1674 | I>V | No | gnomAD | |
| rs1452280977 | 1676 | E>A | No | TOPMed | |
| rs1176318341 | 1676 | E>D | No | gnomAD | |
| rs1468242867 | 1677 | R>C | No |
TOPMed gnomAD |
|
| rs766750914 | 1677 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs766750914 | 1677 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2142382254 | 1679 | A>T | No | Ensembl | |
| rs979326011 | 1680 | N>I | No |
TOPMed gnomAD |
|
| rs2074164140 | 1682 | L>R | No | TOPMed | |
| rs866198608 | 1683 | Q>H | No | Ensembl | |
|
rs2142382212 RCV001878503 |
1683 | Q>P | No |
ClinVar Ensembl dbSNP |
|
| rs763805673 | 1685 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2074163769 | 1686 | V>A | No | TOPMed | |
| rs1597481470 | 1686 | V>M | No | Ensembl | |
| rs867393905 | 1687 | E>G | No | Ensembl | |
| rs528933675 | 1688 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs568057910 | 1688 | E>V | No |
1000Genomes ExAC gnomAD |
|
| rs2074163445 | 1689 | L>P | No | Ensembl | |
| rs1282954501 | 1689 | L>V | No |
TOPMed gnomAD |
|
| rs758929619 | 1690 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs774366569 | 1690 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs758929619 | 1690 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1374622709 | 1691 | A>D | No | gnomAD | |
|
RCV002273436 rs770715754 |
1691 | A>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs140180067 | 1692 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2074163100 | 1694 | E>Q | No | TOPMed | |
| rs564468476 | 1696 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs564468476 | 1696 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs998354107 | 1698 | R>G | No | TOPMed | |
|
COSM1380831 rs747006068 |
1700 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs755136808 | 1700 | R>W | No |
ExAC gnomAD |
|
| rs1188200228 | 1701 | K>N | No | gnomAD | |
| rs902245017 | 1701 | K>Q | No | TOPMed | |
| rs144771730 | 1702 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000908772 rs546075871 |
1703 | A>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1230782796 | 1706 | E>* | No |
TOPMed gnomAD |
|
| rs1230782796 | 1706 | E>K | No |
TOPMed gnomAD |
|
| COSM472288 | 1709 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1261393431 | 1710 | S>C | No | gnomAD | |
| rs755803936 | 1711 | N>D | No |
ExAC gnomAD |
|
| rs755803936 | 1711 | N>H | No |
ExAC gnomAD |
|
| rs752379842 | 1711 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2074162095 | 1712 | E>D | No | Ensembl | |
| rs376574468 | 1712 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs563729183 | 1714 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs1322695760 | 1715 | Q>L | No | Ensembl | |
| rs1027202890 | 1716 | L>P | No |
TOPMed gnomAD |
|
| rs750965722 | 1719 | T>S | No |
ExAC gnomAD |
|
| rs2074161706 | 1720 | Q>R | No | Ensembl | |
| rs1597481296 | 1721 | N>T | No | Ensembl | |
| COSM1380830 | 1722 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762986205 | 1722 | T>P | No |
ExAC gnomAD |
|
| rs180886846 | 1727 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765213085 | 1727 | T>I | No |
ExAC gnomAD |
|
| rs138116592 | 1728 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074159966 | 1728 | K>R | No | gnomAD | |
| rs200285067 | 1730 | K>E | No | 1000Genomes | |
| rs902299567 | 1732 | E>A | No | TOPMed | |
|
rs2142381540 RCV002017140 |
1732 | E>K | No |
ClinVar Ensembl dbSNP |
|
|
CA208232 RCV003133170 RCV000194211 rs539740208 |
1733 | T>K | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs367639003 | 1735 | L>R | No | Ensembl | |
| rs145593110 | 1736 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1265600606 | 1736 | M>T | No |
TOPMed gnomAD |
|
| rs775680727 | 1737 | Q>K | No |
ExAC gnomAD |
|
| rs1567551578 | 1737 | Q>R | No | Ensembl | |
| rs1272556646 | 1738 | L>F | No | TOPMed | |
| rs1272556646 | 1738 | L>V | No | TOPMed | |
| rs772075275 | 1740 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1211077383 | 1740 | S>N | No |
TOPMed gnomAD |
|
| rs1211077383 | 1740 | S>T | No |
TOPMed gnomAD |
|
| rs745900083 | 1741 | E>K | No |
ExAC gnomAD |
|
|
RCV001958466 rs1349916066 |
1742 | V>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs992371150 | 1744 | D>H | No |
TOPMed gnomAD |
|
| rs992371150 | 1744 | D>N | No |
TOPMed gnomAD |
|
| rs1567551550 | 1745 | A>V | No | Ensembl | |
| rs749718130 | 1746 | S>G | No |
ExAC gnomAD |
|
| rs2074158964 | 1746 | S>R | No | Ensembl | |
| rs777984440 | 1747 | R>G | No |
ExAC gnomAD |
|
| COSM3514006 | 1747 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1397687931 | 1748 | D>H | No |
TOPMed gnomAD |
|
| rs1397687931 | 1748 | D>N | No |
TOPMed gnomAD |
|
| rs1273149083 | 1748 | D>V | No | gnomAD | |
| rs1397687931 | 1748 | D>Y | No |
TOPMed gnomAD |
|
| rs190548571 | 1749 | A>G | No |
1000Genomes ExAC gnomAD |
|
| rs1297925169 | 1749 | A>T | No |
TOPMed gnomAD |
|
| rs751137584 | 1751 | N>K | No |
ExAC TOPMed gnomAD |
|
|
rs34393601 RCV000874282 |
1752 | A>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1375964638 | 1753 | E>G | No | gnomAD | |
| COSM4828336 | 1753 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1419843000 | 1754 | E>K | No | gnomAD | |
| rs546653497 | 1755 | K>E | No |
1000Genomes TOPMed gnomAD |
|
| COSM975379 | 1755 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199863377 | 1756 | A>V | No |
TOPMed gnomAD |
|
|
RCV001756980 rs929323217 |
1757 | K>E | No |
ClinVar TOPMed dbSNP gnomAD |
|
| COSM4937541 | 1758 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765337329 | 1759 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs765337329 | 1759 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs372820809 | 1761 | T>A | No |
ESP TOPMed gnomAD |
|
| rs201596402 | 1761 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV002038925 rs201596402 |
1761 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs201596402 | 1761 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs552501098 | 1762 | D>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs552501098 | 1762 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs760480479 | 1762 | D>G | No |
ExAC gnomAD |
|
| rs766412503 | 1763 | A>V | No |
ExAC gnomAD |
|
| rs1157280212 | 1764 | A>S | No |
TOPMed gnomAD |
|
| rs1157280212 | 1764 | A>T | No |
TOPMed gnomAD |
|
| rs762975920 | 1764 | A>V | No | ExAC | |
| rs1015276605 | 1765 | M>T | No | Ensembl | |
| rs2074144513 | 1766 | M>V | No | Ensembl | |
| rs770274849 | 1767 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1768 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1186652287 | 1769 | E>A | No | TOPMed | |
| rs2074144355 | 1769 | E>K | No | TOPMed | |
| rs1186652287 | 1769 | E>V | No | TOPMed | |
| rs771904289 | 1770 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs771904289 | 1770 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs781696530 | 1772 | K>E | No |
TOPMed gnomAD |
|
|
RCV002043909 rs561334768 |
1773 | E>A | No |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs778670316 | 1773 | E>D | No |
ExAC TOPMed gnomAD |
|
| COSM3514005 | 1773 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1193800248 | 1773 | E>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 1774 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215197826 | 1774 | Q>E | No | gnomAD | |
| rs756851156 | 1775 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs748776855 | 1776 | T>A | No |
ExAC gnomAD |
|
| rs1002106046 | 1777 | S>G | No |
TOPMed gnomAD |
|
| rs200111154 | 1777 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM276211 rs1272471978 |
1778 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2074143716 | 1779 | H>D | No | TOPMed | |
| rs2074143617 | 1780 | L>V | No | TOPMed | |
| rs756072657 | 1781 | E>K | No |
ExAC gnomAD |
|
| TCGA novel | 1781 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs529963438 | 1782 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs375945785 COSM4063883 |
1782 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs755232090 | 1783 | M>I | No |
ExAC gnomAD |
|
| COSM975378 | 1785 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751807271 | 1786 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2074143179 | 1789 | Q>K | No | gnomAD | |
| rs765724529 | 1790 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs776904877 | 1791 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2074143071 | 1791 | V>M | No |
TOPMed gnomAD |
|
| rs769177382 | 1792 | K>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1793 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761072452 | 1796 | H>R | No |
ExAC TOPMed gnomAD |
|
|
rs770643139 COSM3969811 |
1797 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1295517328 | 1799 | D>E | No | gnomAD | |
| rs2074142821 | 1799 | D>V | No | TOPMed | |
| rs777322813 | 1801 | A>V | No |
ExAC gnomAD |
|
| rs748086358 | 1802 | E>* | No |
ExAC gnomAD |
|
| rs748086358 | 1802 | E>K | No |
ExAC gnomAD |
|
|
COSM3402597 RCV001896419 rs781063695 |
1805 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs2074142575 | 1807 | K>Q | No | Ensembl | |
| rs144813601 | 1809 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs750520481 | 1809 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs144813601 | 1809 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6145573 | 1809 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597480388 | 1810 | K>E | No | Ensembl | |
| TCGA novel | 1810 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1175424039 | 1814 | Q>H | No | gnomAD | |
| rs759849430 | 1817 | E>D | No | gnomAD | |
| rs764638396 | 1818 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2074142222 | 1819 | R>G | No | Ensembl | |
| rs753159333 | 1820 | I>M | No |
ExAC gnomAD |
|
| rs756677571 | 1820 | I>V | No |
ExAC gnomAD |
|
|
rs1427377745 COSM332285 |
1821 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs767892414 | 1821 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1433891163 | 1823 | L>R | No |
TOPMed gnomAD |
|
| rs759777988 | 1825 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1175934128 | 1830 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs373378908 | 1831 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373378908 | 1831 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs764734875 RCV001928386 |
1832 | K>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1455662839 | 1832 | K>R | No |
TOPMed gnomAD |
|
| rs749466099 | 1833 | K>N | No |
ExAC TOPMed gnomAD |
|
| COSM6080092 | 1833 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1299209209 | 1833 | K>T | No |
TOPMed gnomAD |
|
| rs776111421 | 1835 | T>A | No |
ExAC gnomAD |
|
| rs746921344 | 1835 | T>I | No |
ExAC gnomAD |
|
| rs746921344 | 1835 | T>R | No |
ExAC gnomAD |
|
| rs775371299 | 1836 | E>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1836 | E>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771926561 | 1837 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs369994001 | 1838 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2074140126 | 1842 | R>S | No | Ensembl | |
| rs1318668514 | 1842 | R>W | No |
TOPMed gnomAD |
|
|
RCV000762204 rs1180621599 |
1843 | K>R | No |
ClinVar dbSNP gnomAD |
|
| rs995994088 | 1845 | E>D | No |
TOPMed gnomAD |
|
| rs749437948 | 1846 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs757418855 | 1846 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1208379821 | 1847 | R>K | No | gnomAD | |
| rs2074139886 | 1847 | R>W | No | TOPMed | |
| rs1597480228 | 1848 | V>G | No | Ensembl | |
| rs2074139754 | 1848 | V>I | No | Ensembl | |
|
RCV002269802 RCV003560907 rs539272823 |
1852 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs767862287 | 1853 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs755380505 | 1854 | Q>* | No |
ExAC gnomAD |
|
| rs1216230489 | 1854 | Q>R | No | gnomAD | |
| rs2074137373 | 1855 | S>N | No | TOPMed | |
| rs2074137373 | 1855 | S>T | No | TOPMed | |
| rs748177595 | 1856 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1401814776 | 1858 | D>G | No | TOPMed | |
| rs1447774789 | 1859 | R>S | No |
TOPMed gnomAD |
|
| COSM1679582 | 1865 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1449886993 | 1867 | D>G | No |
TOPMed gnomAD |
|
| rs1398095307 | 1867 | D>Y | No | TOPMed | |
| rs1349484226 | 1872 | L>Q | No | gnomAD | |
| rs1232081427 | 1873 | Q>H | No |
TOPMed gnomAD |
|
| rs759371633 | 1874 | V>A | No |
ExAC TOPMed gnomAD |
|
|
RCV001899571 rs767550622 |
1874 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2074136339 | 1877 | K>T | No | TOPMed | |
| rs774239787 | 1879 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs770880099 | 1881 | R>K | No |
ExAC gnomAD |
|
| rs916629361 | 1882 | Q>R | No |
TOPMed gnomAD |
|
| rs770070846 | 1883 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs762786602 | 1883 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM2925465 rs770070846 |
1883 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs973494741 | 1884 | E>K | No | TOPMed | |
| rs1465746709 | 1886 | A>G | No | gnomAD | |
| rs1238431346 | 1886 | A>S | No | TOPMed | |
| rs1338800623 | 1888 | E>K | No | gnomAD | |
| rs79747866 | 1889 | Q>K | No |
ExAC gnomAD |
|
| rs886052578 | 1890 | A>D | No |
TOPMed gnomAD |
|
| rs754458917 | 1892 | A>G | No |
ExAC gnomAD |
|
| rs754458917 | 1892 | A>V | No |
ExAC gnomAD |
|
| rs145624953 | 1893 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1567550326 | 1894 | L>H | No | Ensembl | |
| rs766486500 | 1895 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1567550322 | 1895 | T>N | No | 1000Genomes | |
| rs1567550322 | 1895 | T>S | No | 1000Genomes | |
| rs1180221563 | 1896 | K>N | No |
TOPMed gnomAD |
|
|
COSM3514004 rs1162608892 |
1896 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs758392734 | 1897 | F>Y | No |
ExAC TOPMed gnomAD |
|
|
RCV001872556 rs750289236 COSM3514003 |
1898 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs1188582575 | 1898 | R>Q | No | gnomAD | |
| rs765090438 | 1899 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs761623039 | 1900 | A>S | No |
ExAC gnomAD |
|
| rs761623039 | 1900 | A>T | No |
ExAC gnomAD |
|
| rs1453739529 | 1902 | H>R | No | gnomAD | |
| rs2074133544 | 1904 | L>V | No | Ensembl | |
| rs1383149527 | 1905 | E>Q | No |
TOPMed gnomAD |
|
| rs1300427720 | 1906 | E>K | No |
TOPMed gnomAD |
|
| rs1048702846 | 1907 | A>V | No | TOPMed | |
| rs369612990 | 1908 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| COSM4063882 | 1910 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746345098 | 1910 | R>G | No |
ExAC gnomAD |
|
| rs774802588 | 1910 | R>L | No |
ExAC gnomAD |
|
| COSM4063881 | 1911 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1439372634 | 1911 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs771220671 | 1912 | D>G | No |
ExAC gnomAD |
|
| rs1403544265 | 1913 | I>V | No |
TOPMed gnomAD |
|
|
COSM4844135 rs1169141194 |
1914 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM6145574 | 1916 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142376527 | 1916 | S>T | No | Ensembl | |
| COSM3514002 | 1917 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142376515 | 1919 | N>K | No | Ensembl | |
| rs1358047070 | 1922 | R>C | No |
TOPMed gnomAD |
|
| rs1209848971 | 1922 | R>H | No | TOPMed | |
| rs1478130032 | 1923 | A>T | No |
TOPMed gnomAD |
|
| COSM1380828 | 1923 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597479811 | 1925 | T>S | No | Ensembl | |
| rs1449422340 | 1926 | R>* | No |
TOPMed gnomAD |
|
| rs1449422340 | 1926 | R>G | No |
TOPMed gnomAD |
|
| rs867200333 | 1929 | T>I | No |
TOPMed gnomAD |
|
|
rs2074132358 COSM3514001 |
1930 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs781043150 | 1930 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs746571273 | 1931 | S>T | No |
ExAC gnomAD |
|
| rs1341569529 | 1932 | R>K | No | gnomAD | |
| rs779685889 | 1932 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs955713302 | 1933 | M>V | No |
TOPMed gnomAD |
|
| rs770223770 | 1934 | V>M | No |
ExAC gnomAD |
|
| rs886052577 | 1935 | V>D | No | gnomAD | |
| rs775287416 | 1936 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs1341398702 | 1936 | H>R | No | gnomAD | |
| rs775287416 | 1936 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1597479226 | 1937 | E>K | No | TOPMed | |
| rs2074117554 | 1938 | S>T | No | TOPMed | |
| rs555639778 | 1939 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs745429892 | 1940 | E>D | No |
ExAC gnomAD |
4 associated diseases with P11055
[MIM: 193700]: Arthrogryposis, distal, 2A (DA2A)
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618436]: Arthrogryposis, distal, 2B3 (DA2B3)
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 178110]: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)
An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618469]: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B)
An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. . Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
| 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. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
| myosin phosphatase activity | Catalysis of the reaction |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| embryonic limb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping. |
| face morphogenesis | The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| muscle filament sliding | The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
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 |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
| P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
| P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
| P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | 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 |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSDTEMEVF | GIAAPFLRKS | EKERIEAQNQ | PFDAKTYCFV | VDSKEEYAKG | KIKSSQDGKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TVETEDNRTL | VVKPEDVYAM | NPPKFDRIED | MAMLTHLNEP | AVLYNLKDRY | TSWMIYTYSG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LFCVTVNPYK | WLPVYNPEVV | EGYRGKKRQE | APPHIFSISD | NAYQFMLTDR | ENQSILITGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGAGKTVNTK | RVIQYFATIA | ATGDLAKKKD | SKMKGTLEDQ | IISANPLLEA | FGNAKTVRND |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NSSRFGKFIR | IHFGTTGKLA | SADIETYLLE | KSRVTFQLKA | ERSYHIFYQI | LSNKKPELIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLLITTNPYD | YPFISQGEIL | VASIDDAEEL | LATDSAIDIL | GFTPEEKSGL | YKLTGAVMHY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNMKFKQKQR | EEQAEPDGTE | VADKTAYLMG | LNSSDLLKAL | CFPRVKVGNE | YVTKGQTVDQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VHHAVNALSK | SVYEKLFLWM | VTRINQQLDT | KLPRQHFIGV | LDIAGFEIFE | YNSLEQLCIN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FTNEKLQQFF | NHHMFVLEQE | EYKKEGIEWT | FIDFGMDLAA | CIELIEKPMG | IFSILEEECM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FPKATDTSFK | NKLYDQHLGK | SNNFQKPKVV | KGRAEAHFSL | IHYAGTVDYS | VSGWLEKNKD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLNETVVGLY | QKSSNRLLAH | LYATFATADA | DSGKKKVAKK | KGSSFQTVSA | LFRENLNKLM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SNLRTTHPHF | VRCIIPNETK | TPGAMEHSLV | LHQLRCNGVL | EGIRICRKGF | PNRILYGDFK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRYRVLNASA | IPEGQFIDSK | KACEKLLASI | DIDHTQYKFG | HTKVFFKAGL | LGTLEEMRDD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RLAKLITRTQ | AVCRGFLMRV | EFQKMVQRRE | SIFCIQYNIR | SFMNVKHWPW | MKLFFKIKPL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LKSAETEKEM | ATMKEEFQKT | KDELAKSEAK | RKELEEKLVT | LVQEKNDLQL | QVQAESENLL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DAEERCDQLI | KAKFQLEAKI | KEVTERAEDE | EEINAELTAK | KRKLEDECSE | LKKDIDDLEL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TLAKVEKEKH | ATENKVKNLT | EELSGLDETI | AKLTREKKAL | QEAHQQALDD | LQAEEDKVNS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LNKTKSKLEQ | QVEDLESSLE | QEKKLRVDLE | RNKRKLEGDL | KLAQESILDL | ENDKQQLDER |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LKKKDFEYCQ | LQSKVEDEQT | LGLQFQKKIK | ELQARIEELE | EEIEAERATR | AKTEKQRSDY |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ARELEELSER | LEEAGGVTST | QIELNKKREA | EFLKLRRDLE | EATLQHEAMV | AALRKKHADS |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| VAELGEQIDN | LQRVKQKLEK | EKSEFKLEID | DLSSSMESVS | KSKANLEKIC | RTLEDQLSEA |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| RGKNEEIQRS | LSELTTQKSR | LQTEAGELSR | QLEEKESIVS | QLSRSKQAFT | QQTEELKRQL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EEENKAKNAL | AHALQSSRHD | CDLLREQYEE | EQEGKAELQR | ALSKANSEVA | QWRTKYETDA |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| IQRTEELEEA | KKKLAQRLQD | SEEQVEAVNA | KCASLEKTKQ | RLQGEVEDLM | VDVERANSLA |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| AALDKKQRNF | DKVLAEWKTK | CEESQAELEA | SLKESRSLST | ELFKLKNAYE | EALDQLETVK |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| RENKNLEQEI | ADLTEQIAEN | GKTIHELEKS | RKQIELEKAD | IQLALEEAEA | ALEHEEAKIL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| RIQLELTQVK | SEIDRKIAEK | DEEIEQLKRN | YQRTVETMQS | ALDAEVRSRN | EAIRLKKKME |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| GDLNEIEIQL | SHANRQAAET | LKHLRSVQGQ | LKDTQLHLDD | ALRGQEDLKE | QLAIVERRAN |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| LLQAEVEELR | ATLEQTERAR | KLAEQELLDS | NERVQLLHTQ | NTSLIHTKKK | LETDLMQLQS |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| EVEDASRDAR | NAEEKAKKAI | TDAAMMAEEL | KKEQDTSAHL | ERMKKNLEQT | VKDLQHRLDE |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| AEQLALKGGK | KQIQKLETRI | RELEFELEGE | QKKNTESVKG | LRKYERRVKE | LTYQSEEDRK |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| NVLRLQDLVD | KLQVKVKSYK | RQAEEADEQA | NAHLTKFRKA | QHELEEAEER | ADIAESQVNK |
| 1930 | |||||
| LRAKTRDFTS | SRMVVHESEE |