Q7Z406
SS
Gene name |
MYH14 (KIAA2034, FP17425) |
Protein name |
Myosin-14 |
Names |
Myosin heavy chain 14 , Myosin heavy chain, non-muscle IIc , Non-muscle myosin heavy chain IIc , NMHC II-C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79784 |
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 |
99-801 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q7Z406
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5I4E | X-ray | 225 A | A | 47-784 | PDB |
| 5JLH | EM | 390 A | F/G | 1-799 | PDB |
| AF-Q7Z406-F1 | Predicted | AlphaFoldDB |
2226 variants for Q7Z406
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000262635 rs750407725 CA9592168 |
2 | A>V | Nonsyndromic Hearing Loss, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs532458856 RCV001136334 |
4 | V>M | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000002280 rs119103279 CA252130 |
7 | S>* | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs590722 RCV001197064 |
31 | P>S | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000295670 rs590722 RCV002054632 CA133520 RCV000037057 |
31 | P>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002552119 RCV001882926 rs748365469 |
77 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001129341 rs185910660 |
88 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001000755 CA309565589 rs988356194 RCV003718272 RCV000623962 |
89 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001756499 RCV002539871 rs767001869 |
93 | R>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003407256 VAR_037302 rs119103281 CA252137 RCV000002284 RCV000481506 |
120 | S>L | MYH14-related condition Autosomal dominant nonsyndromic hearing loss 4A DFNA4A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001129343 CA182272 RCV000155158 rs199910006 RCV001550537 |
132 | G>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10652188 RCV000382938 rs886054587 |
147 | P>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000348140 RCV000037049 CA133504 RCV000712345 rs34773557 |
161 | M>I | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774773452 RCV001336655 |
164 | G>A | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA9592282 rs138001307 RCV000404566 RCV000220639 RCV000756388 |
176 | A>T | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000284799 CA10652189 RCV003727686 rs886054588 |
179 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1157237240 RCV001132057 |
187 | Q>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001547487 rs199583971 RCV001132058 |
187 | Q>R | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000403272 RCV000155159 RCV003352782 rs200818171 CA182274 RCV000910132 |
189 | R>C | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1263172577 RCV001132059 |
199 | E>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001132060 rs748472752 |
218 | V>M | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001132998 CA182276 VAR_022866 rs200424400 RCV000155160 RCV000733279 |
266 | I>V | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001133000 RCV000658114 rs202246093 |
272 | V>I | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003317366 RCV000789010 rs752106950 |
276 | I>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9592431 RCV003225061 RCV000354839 rs777836668 |
281 | I>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000397491 CA133451 rs34498817 RCV000037018 RCV000827076 VAR_056176 |
334 | P>A | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA182280 RCV002514986 rs35315400 RCV000155162 RCV000897987 RCV001136432 |
337 | S>C | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002547348 rs373908919 RCV001336130 |
342 | R>Q | Variant assessed as Somatic; MODERATE impact. Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs150806988 RCV000906878 RCV001136434 |
370 | S>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000438830 RCV000037022 VAR_022867 rs119103280 RCV000002283 CA133457 |
376 | G>C | Autosomal dominant nonsyndromic hearing loss 4A DFNA4A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001129446 rs201762439 |
379 | A>V | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs537153044 RCV000443981 RCV000370979 RCV000151183 CA176883 |
394 | N>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001558118 rs374720181 RCV001129448 |
402 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751011647 RCV000270182 CA9592576 RCV003168492 |
424 | R>Q | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002498757 rs556541366 RCV000914855 RCV000155782 CA183474 |
426 | Y>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003388585 RCV000506773 CA9592616 RCV001865662 rs752732851 |
453 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199812021 RCV001812489 RCV002542974 |
465 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886044300 RCV000319146 CA10606589 RCV003401273 |
471 | A>D | MYH14-related condition [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000785156 rs887619644 RCV000785157 |
480 | A>S | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001132170 rs2034291097 |
521 | E>A | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003317522 rs371300947 RCV001772730 RCV002488559 |
536 | P>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200843734 RCV002562018 RCV001931445 |
589 | R>W | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000992388 RCV002550638 rs571071269 RCV001133102 |
604 | D>N | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001133103 RCV003718351 rs1322815305 |
607 | A>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001133104 CA9592748 RCV001505041 rs199696801 RCV000214901 |
632 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10648986 RCV000341251 rs370124751 |
649 | Q>E | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000373117 rs539256005 RCV002523073 CA9592792 |
655 | D>N | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs778416774 RCV000278587 CA9592794 |
656 | G>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001133105 rs770353210 |
664 | R>Q | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001559702 RCV000338203 rs766802012 CA9592802 |
668 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001134576 rs552485033 |
709 | P>A | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001134577 rs772570358 |
710 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs367822041 RCV001134578 |
712 | V>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886054589 RCV000313653 CA10643127 |
719 | N>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_022868 CA252135 RCV000002282 rs28940307 |
726 | R>S | Autosomal dominant nonsyndromic hearing loss 4A DFNA4A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM999620 RCV001195965 COSM999619 rs747057989 |
742 | R>W | Variant assessed as Somatic; MODERATE impact. Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000037034 RCV000844487 rs397516628 RCV000310378 CA133480 |
746 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2034792345 RCV001129552 |
754 | P>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001129553 rs2034872038 |
769 | Q>P | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000365020 CA9592953 RCV001336652 rs201337011 RCV000310107 RCV001564648 |
770 | A>V | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001249223 rs2034878363 |
801 | L>P | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001375401 rs753356694 RCV001197065 RCV001559437 RCV001132286 |
826 | R>C | Variant assessed as Somatic; MODERATE impact. Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000321102 CA9593014 RCV000602223 RCV000936399 rs547836952 |
826 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001402820 RCV001132287 rs202065396 |
841 | A>V | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001756654 rs2035101711 RCV003401673 |
865 | T>M | MYH14-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000037035 RCV000267105 CA248635 rs200351672 RCV000969325 |
890 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331337 CA9593059 rs757658628 RCV000615483 |
906 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000714674 rs755994602 |
908 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9593063 RCV001699374 RCV000282523 rs576611342 RCV003168493 |
914 | R>Q | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773353115 RCV000790516 |
924 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002556857 RCV001336653 RCV001133218 rs142134135 |
926 | T>M | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs113993956 RCV003228899 VAR_066338 CA129426 RCV000023718 |
933 | R>L | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome PNMHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000337608 CA10652716 rs886054591 |
940 | V>M | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001855975 rs367588704 RCV000770774 |
950 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
VAR_022869 CA252133 RCV000002281 rs28940306 |
976 | L>F | Autosomal dominant nonsyndromic hearing loss 4A DFNA4A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000402879 RCV000222573 rs201746408 CA9593110 RCV000757521 COSM999632 COSM999631 |
992 | T>M | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10652719 rs886054593 RCV000406256 |
1028 | F>L | Nonsyndromic Hearing Loss, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370923801 RCV001898099 RCV003166965 |
1046 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003708518 RCV000302660 rs368372273 CA9593161 RCV001195617 |
1046 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002477089 RCV002513455 CA133489 COSM999636 COSM999635 RCV000037040 rs397516629 |
1061 | R>W | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002568433 RCV001564989 rs369620344 |
1094 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001129664 rs373207210 RCV001856687 |
1104 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2123394094 RCV002226600 |
1112 | A>T | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs370256265 RCV001548021 CA182287 RCV002516121 RCV000155166 |
1118 | D>Y | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3773108 COSM192110 rs373919106 COSM192109 RCV000788082 |
1131 | R>W | Variant assessed as Somatic; MODERATE impact. Charcot-Marie-Tooth disease [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000306047 rs755161446 CA9593262 |
1157 | Q>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001968746 rs371244397 RCV002571224 |
1158 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001591366 rs758560911 RCV000614314 RCV002529348 CA9593269 |
1167 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs794729639 CA275499 RCV000185540 |
1169 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM5569148 rs200988515 COSM5569147 RCV000318570 CA9593296 RCV001354217 COSM5569146 |
1194 | T>M | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002564197 RCV001507448 rs373336821 |
1208 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000037044 RCV000357017 VAR_056177 CA133495 rs11669191 RCV000756384 |
1209 | A>E | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201727916 RCV001571665 RCV001132385 |
1217 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200272339 RCV000996979 RCV000273978 CA133497 RCV000037045 |
1219 | G>S | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs763472009 RCV001760975 RCV002489781 |
1233 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001660683 rs201515738 RCV000477780 RCV000388475 CA9593351 |
1243 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1421577105 RCV001133311 |
1249 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000296521 rs202242879 RCV000757519 CA9593357 |
1250 | V>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000356960 rs377014092 RCV001133313 CA9593362 RCV002519257 RCV000825961 |
1254 | R>Q | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372367091 RCV003718352 RCV002556862 RCV001133312 |
1254 | R>W | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002487458 rs755704452 CA9593370 RCV000325711 |
1264 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001134774 RCV001560423 rs376705845 |
1284 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002542474 RCV001816247 rs374058410 |
1302 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003355519 RCV001559007 rs375687883 |
1322 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003335137 RCV003162638 CA184565 rs727504915 RCV000156300 RCV001375354 |
1322 | R>H | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA176900 rs202225655 RCV000894239 RCV000151192 RCV000290132 |
1324 | S>N | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002549167 rs377462520 RCV001776075 RCV001134778 RCV001001879 |
1345 | T>S | Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000757520 RCV003243293 rs535145284 |
1366 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs553162373 RCV000585569 CA9593462 RCV000393863 |
1366 | R>H | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000151195 CA176906 rs727503225 RCV001129792 RCV001770113 |
1379 | A>V | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003238728 RCV000151196 RCV002514911 rs727503226 CA176908 |
1381 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003346610 RCV001544584 rs368069617 |
1387 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003007015 rs762144894 RCV002075498 |
1395 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2123423816 RCV003401822 RCV001886321 |
1430 | E>G | MYH14-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000972341 RCV000223351 rs112716976 RCV001129793 CA9593501 |
1432 | V>M | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs187782753 CA176910 RCV003362692 RCV000151197 |
1439 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000156544 CA185056 RCV003352783 rs141995460 |
1455 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001375449 rs2123437042 RCV002550219 |
1476 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs944541812 RCV001197120 |
1487 | E>K | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003334035 rs758821769 RCV001129795 |
1488 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001731610 rs752388019 RCV000296876 CA9593557 |
1496 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001132489 rs553628577 |
1501 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2035897043 RCV001132490 |
1508 | A>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs758725143 RCV003546639 RCV001132491 |
1515 | A>T | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003736996 RCV001132492 rs780299880 |
1516 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761025607 CA10643139 RCV000354567 |
1520 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000155169 RCV001689701 CA182293 RCV001132493 rs140118363 |
1521 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769989306 RCV001007771 |
1524 | R>W | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000037046 VAR_056178 RCV000881669 CA133499 rs680446 RCV000367281 |
1540 | V>I | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776185423 RCV001133413 |
1552 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9593623 rs553038266 RCV000585091 RCV003302900 |
1576 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001133414 RCV002249737 RCV003558699 rs140157424 |
1594 | E>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs556548077 CA9593673 RCV000626115 RCV000269098 RCV000903989 |
1640 | E>K | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs202119742 RCV001134892 |
1670 | Q>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002261299 RCV001196065 rs116035034 |
1720 | R>W | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001134893 rs746211693 |
1721 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001134894 rs368770587 |
1727 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002505705 rs567922009 RCV001129869 |
1754 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs567922009 RCV001129870 |
1754 | R>L | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771246753 RCV003411676 RCV000731872 |
1760 | E>K | Variant assessed as Somatic; MODERATE impact. MYH14-related condition [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000287000 RCV001582972 rs201923258 CA9593799 |
1775 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003490083 RCV001129871 RCV002556826 RCV002558269 rs201040702 |
1804 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000281295 RCV000609057 rs187789045 CA9593855 RCV001550179 |
1826 | R>C | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs745991888 RCV000403815 CA9593904 |
1893 | N>K | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs774096368 RCV002221637 |
1909 | E>K | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002521244 RCV000312237 rs754203387 CA9593918 |
1912 | R>Q | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758424787 RCV002486094 RCV001810710 |
1918 | R>W | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1409838865 RCV001133533 |
1948 | G>R | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001007772 rs749591626 |
1955 | R>C | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369111539 RCV001133534 RCV001772334 |
1955 | R>H | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs2123499275 RCV001823258 |
1956 | T>missing | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9593979 RCV000213467 RCV000306244 RCV001508872 rs201986144 |
1956 | T>M | Variant assessed as Somatic; MODERATE impact. Autosomal dominant nonsyndromic hearing loss 4A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001095695 rs1337213084 |
1981 | G>A | Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001195794 rs2036794429 |
1992 | A>P | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001198186 RCV001732070 rs1215273187 |
1993 | H>P | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Autosomal dominant nonsyndromic hearing loss 4A [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs750407725 RCV001774194 |
2 | A>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs765226908 | 2 | A>P | No |
ExAC gnomAD |
|
| rs532458856 | 4 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2032109498 | 5 | T>I | No | Ensembl | |
| rs754715242 | 6 | M>V | No |
ExAC gnomAD |
|
| rs119103279 | 7 | S>L | No | gnomAD | |
| rs1259894115 | 8 | V>A | No |
TOPMed gnomAD |
|
| rs1468335088 | 9 | P>L | No |
TOPMed gnomAD |
|
| rs373123199 | 9 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2032112205 | 10 | G>E | No |
TOPMed gnomAD |
|
| rs771312040 | 10 | G>R | No |
ExAC gnomAD |
|
|
COSM3692977 COSM3692978 COSM3692979 rs1316683575 |
11 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs774821193 | 11 | R>W | No |
ExAC TOPMed gnomAD |
|
|
RCV001923331 rs760685746 |
13 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1240622051 | 14 | P>S | No | gnomAD | |
| rs2032114424 | 15 | P>R | No | TOPMed | |
|
TCGA novel rs777024211 |
16 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs1393521993 | 16 | R>K | No |
TOPMed gnomAD |
|
| rs1043801346 | 16 | R>S | No |
TOPMed gnomAD |
|
|
rs1393521993 RCV001774611 |
16 | R>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs761650712 | 17 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs761650712 | 17 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs761650712 | 17 | P>R | No |
ExAC TOPMed gnomAD |
|
|
COSM4895473 COSM4895471 COSM4895472 |
21 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758426078 | 22 | E>K | No |
ExAC gnomAD |
|
| rs758426078 | 22 | E>Q | No |
ExAC gnomAD |
|
|
rs765789880 RCV001763234 |
23 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs751017391 RCV001885777 |
24 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1209557989 | 26 | P>L | No |
TOPMed gnomAD |
|
| rs1209557989 | 26 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 28 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754481121 | 29 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1367888720 | 30 | T>M | No |
TOPMed gnomAD |
|
|
rs549293063 RCV000515053 CA9592189 |
32 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs942607311 | 32 | R>H | No | gnomAD | |
| rs1396184155 | 33 | G>R | No |
TOPMed gnomAD |
|
| rs746349664 | 34 | P>S | No |
ExAC gnomAD |
|
| rs772573950 | 36 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1293542571 | 36 | A>V | No |
TOPMed gnomAD |
|
| rs775864924 | 37 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs775864924 | 37 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2123155916 | 38 | G>S | No | Ensembl | |
| rs1481576159 | 39 | G>E | No | gnomAD | |
| rs933768003 | 39 | G>R | No | Ensembl | |
| rs768878898 | 42 | S>L | No |
ExAC gnomAD |
|
| rs776970790 | 43 | G>C | No |
ExAC gnomAD |
|
| rs1445609410 | 43 | G>D | No | gnomAD | |
| rs776970790 | 43 | G>S | No |
ExAC gnomAD |
|
| rs2032123934 | 44 | T>N | No | Ensembl | |
| rs1046817335 | 44 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2032124158 | 45 | S>C | No | gnomAD | |
| rs1463997815 | 46 | P>L | No |
TOPMed gnomAD |
|
| rs762163537 | 46 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs762163537 | 46 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs765116556 | 47 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs765116556 | 47 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1389227281 | 50 | W>L | No | gnomAD | |
| rs1336228182 | 52 | A>V | No |
TOPMed gnomAD |
|
| rs751476713 | 53 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs751476713 RCV001999099 |
53 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766303694 | 53 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM1216175 rs1005071052 COSM1216174 COSM4080290 |
54 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1005939347 | 54 | R>H | No |
1000Genomes TOPMed gnomAD |
|
| TCGA novel | 54 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1205179650 | 58 | V>L | No | gnomAD | |
| rs1568461677 | 59 | P>A | No | Ensembl | |
|
COSM4403201 COSM4403203 COSM4403202 |
59 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752343294 | 61 | E>D | No |
ExAC gnomAD |
|
| rs767057270 | 61 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs767057270 | 61 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2032128347 | 62 | L>I | No | TOPMed | |
| rs2032128570 | 63 | H>Y | No | Ensembl | |
| rs899447322 | 64 | G>V | No | gnomAD | |
| rs867712389 | 64 | G>W | No | Ensembl | |
| rs1183310888 | 66 | E>K | No | gnomAD | |
| rs1171706056 | 67 | A>V | No |
TOPMed gnomAD |
|
| rs1373066947 | 68 | A>S | No | gnomAD | |
| rs2032130922 | 68 | A>V | No | Ensembl | |
| rs1338133983 | 69 | A>V | No |
TOPMed gnomAD |
|
| rs1034390417 | 71 | R>Q | No |
TOPMed gnomAD |
|
|
COSM5097324 COSM1395394 rs747518990 COSM1395395 |
71 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1300827222 | 72 | D>H | No | gnomAD | |
| rs1300827222 | 72 | D>N | No | gnomAD | |
| rs2032132560 | 73 | E>K | No | Ensembl | |
| rs1294755222 | 74 | G>D | No | gnomAD | |
| rs1214997527 | 74 | G>S | No |
TOPMed gnomAD |
|
| rs781485234 | 75 | E>K | No |
ExAC gnomAD |
|
| rs781485234 | 75 | E>Q | No |
ExAC gnomAD |
|
| rs1265096542 | 76 | E>K | No | gnomAD | |
| rs1203234217 | 78 | A>S | No |
TOPMed gnomAD |
|
| rs770081188 | 78 | A>V | No |
ExAC gnomAD |
|
| rs773341104 | 79 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs773341104 | 79 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs1600855691 | 80 | V>G | No | Ensembl | |
| rs1020385793 | 81 | E>D | No | Ensembl | |
| rs2123156761 | 81 | E>K | No | Ensembl | |
| rs1177903689 | 83 | A>E | No |
TOPMed gnomAD |
|
| rs1477134167 | 83 | A>T | No | gnomAD | |
| rs1177903689 | 83 | A>V | No |
TOPMed gnomAD |
|
| rs1468873391 | 85 | S>N | No | gnomAD | |
| rs1173494653 | 85 | S>R | No | gnomAD | |
| rs1331594754 | 86 | G>R | No | TOPMed | |
| rs1233269436 | 87 | R>T | No |
TOPMed gnomAD |
|
| rs368576196 | 88 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM440026 COSM5211508 COSM440025 |
90 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs963967567 | 90 | R>P | No |
TOPMed gnomAD |
|
| rs963967567 | 90 | R>Q | No |
TOPMed gnomAD |
|
| rs759537521 | 92 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1283893656 | 92 | P>T | No | gnomAD | |
| rs1389179813 | 93 | R>W | No | TOPMed | |
| rs1216875956 | 94 | D>N | No | gnomAD | |
| rs1241915097 | 95 | Q>H | No | gnomAD | |
| rs1202191160 | 97 | Q>R | No | gnomAD | |
| rs1270300751 | 98 | R>C | No |
TOPMed gnomAD |
|
|
rs370947453 RCV000996976 |
98 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs370947453 | 98 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1270300751 | 98 | R>S | No |
TOPMed gnomAD |
|
| rs1004153090 | 100 | N>T | No | Ensembl | |
| rs1409621634 | 102 | P>S | No | gnomAD | |
| rs753454148 | 103 | K>E | No |
ExAC gnomAD |
|
| rs922476515 | 103 | K>R | No |
TOPMed gnomAD |
|
| rs1358354669 | 105 | S>C | No | gnomAD | |
| rs2123157159 | 105 | S>T | No | Ensembl | |
| rs2032142404 | 107 | A>V | No | TOPMed | |
| rs374397467 | 108 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs374397467 | 108 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1303675491 | 109 | D>A | No | gnomAD | |
| rs1213421428 | 110 | M>L | No | TOPMed | |
| rs1213421428 | 110 | M>V | No | TOPMed | |
| rs941078670 | 113 | L>P | No | Ensembl | |
| rs1375735168 | 114 | T>N | No | gnomAD | |
| rs752097619 | 114 | T>P | No |
ExAC gnomAD |
|
| rs1224570911 | 117 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2032145253 | 118 | E>Q | No | Ensembl | |
| rs1351936796 | 119 | A>V | No | gnomAD | |
| rs2123157342 | 120 | S>T | No | Ensembl | |
| rs2123157373 | 122 | L>P | No | Ensembl | |
|
RCV001566424 rs1225260984 |
124 | N>S | No |
ClinVar dbSNP gnomAD |
|
| rs781767217 | 125 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1234140602 | 126 | R>Q | No | gnomAD | |
| rs1218671199 | 126 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1037899945 | 127 | E>D | No |
1000Genomes TOPMed gnomAD |
|
| rs748169419 | 127 | E>K | No |
ExAC gnomAD |
|
| rs2032148022 | 128 | R>L | No | TOPMed | |
| rs2032148202 | 129 | Y>H | No | TOPMed | |
| rs2032148599 | 130 | Y>D | No | gnomAD | |
| rs770018682 | 131 | S>P | No |
ExAC gnomAD |
|
| rs770759400 | 133 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs373972497 | 134 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1325011543 | 134 | I>V | No |
TOPMed gnomAD |
|
| rs1356321548 | 135 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2032150129 | 135 | Y>H | No | TOPMed | |
|
RCV000417974 CA16603214 rs1057520092 |
136 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
| rs1600867686 | 137 | Y>S | No | Ensembl | |
|
RCV001358590 rs768207483 |
139 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1568467464 | 140 | L>I | No | Ensembl | |
| rs776059214 | 140 | L>P | No |
ExAC gnomAD |
|
| rs2032554158 | 142 | C>S | No | Ensembl | |
| rs941689498 | 142 | C>S | No |
TOPMed gnomAD |
|
| rs941689498 | 142 | C>Y | No |
TOPMed gnomAD |
|
|
RCV001549596 rs753622274 |
143 | V>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773027617 | 145 | I>V | No |
ExAC gnomAD |
|
| rs1600867764 | 146 | N>T | No | Ensembl | |
| TCGA novel | 147 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1401845903 | 148 | Y>C | No | gnomAD | |
| rs1320705311 | 149 | K>R | No | gnomAD | |
| rs1568467535 | 150 | Q>R | No | Ensembl | |
| rs1276904333 | 151 | L>V | No | gnomAD | |
| TCGA novel | 152 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1346820820 | 152 | P>S | No | gnomAD | |
| rs2123183543 | 153 | I>T | No | Ensembl | |
|
COSM3971165 COSM3971164 COSM3971166 |
154 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372189033 | 155 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2032557761 | 157 | A>D | No | TOPMed | |
| rs1255046814 | 158 | I>L | No | gnomAD | |
| rs753795403 | 158 | I>T | No |
ExAC gnomAD |
|
| rs1255046814 | 158 | I>V | No | gnomAD | |
| rs778955742 | 159 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2032559130 | 160 | E>K | No | gnomAD | |
| rs1487901070 | 161 | M>T | No |
TOPMed gnomAD |
|
|
RCV003546745 RCV002271787 rs558956312 |
163 | R>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000291017 rs373470153 CA9592271 |
163 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs746931725 | 164 | G>S | No |
ExAC gnomAD |
|
| rs1464748606 | 165 | K>R | No | gnomAD | |
| rs1386090990 | 166 | K>R | No | gnomAD | |
| rs759687206 | 167 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
COSM1734916 COSM4080294 COSM1734917 rs776632941 RCV001977943 |
167 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs769397047 | 169 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1469856275 | 171 | P>T | No |
TOPMed gnomAD |
|
| rs772970544 | 172 | P>S | No |
ExAC gnomAD |
|
| rs373197435 | 174 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001997560 COSM4080295 COSM4080296 rs373197435 COSM4080297 |
174 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs138001307 | 176 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2032563527 RCV001908208 |
176 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs936097220 | 180 | G>A | No | gnomAD | |
| rs936097220 | 180 | G>E | No | gnomAD | |
| rs2032564360 | 180 | G>W | No | TOPMed | |
| rs1442511595 | 181 | A>S | No | Ensembl | |
| rs765339939 | 183 | R>G | No |
ExAC gnomAD |
|
|
RCV001507447 rs750639438 |
183 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs765339939 | 183 | R>W | No |
ExAC gnomAD |
|
| rs1439469593 | 184 | S>N | No | gnomAD | |
| rs1355918624 | 187 | Q>H | No |
TOPMed gnomAD |
|
|
rs2123184077 RCV001767465 |
188 | D>N | No |
ClinVar Ensembl dbSNP |
|
| rs200818171 | 189 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766546274 RCV001951946 |
189 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs200818171 | 189 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754700188 RCV001590601 |
194 | I>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1310478454 | 195 | L>V | No | gnomAD | |
| rs1309191476 | 196 | C>* | No | gnomAD | |
|
rs1309191476 COSM999598 COSM999599 |
196 | C>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs781109986 | 197 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs990086616 | 197 | T>P | No | Ensembl | |
| rs1375962664 | 198 | G>R | No | gnomAD | |
| rs1476551212 | 199 | E>A | No | gnomAD | |
| rs764078299 | 202 | A>S | No |
ExAC TOPMed gnomAD |
|
|
RCV002051472 rs1413578961 |
205 | T>M | No |
ClinVar dbSNP gnomAD |
|
| rs1413578961 | 205 | T>R | No | gnomAD | |
| rs2032929160 | 208 | T>I | No | Ensembl | |
| rs1304387712 | 210 | K>T | No |
TOPMed gnomAD |
|
| TCGA novel | 211 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1433160994 | 212 | I>N | No |
TOPMed gnomAD |
|
| rs1297496595 | 215 | L>V | No | gnomAD | |
| rs745491664 | 216 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1218831809 | 219 | A>V | No | gnomAD | |
| rs773685557 | 220 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1285848598 | 221 | S>F | No | gnomAD | |
| rs774431933 | 222 | P>S | No |
ExAC gnomAD |
|
| rs1224011942 | 223 | K>R | No |
TOPMed gnomAD |
|
| rs1224011942 | 223 | K>T | No |
TOPMed gnomAD |
|
| rs200969825 | 224 | G>S | No |
1000Genomes ExAC gnomAD |
|
| rs2123204668 | 225 | R>T | No | 1000Genomes | |
| rs2032933336 | 227 | E>Q | No | gnomAD | |
| rs767742973 | 228 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1600879504 | 230 | V>A | No | Ensembl | |
| rs2032934278 | 230 | V>I | No | gnomAD | |
| rs1409787707 | 231 | P>L | No | gnomAD | |
| rs1208976445 | 232 | G>R | No |
TOPMed gnomAD |
|
| rs1419656939 | 233 | E>D | No |
TOPMed gnomAD |
|
| rs766355003 | 233 | E>K | No |
ExAC gnomAD |
|
| rs1043514694 | 234 | L>M | No |
TOPMed gnomAD |
|
| rs745657470 | 235 | E>G | No | Ensembl | |
| rs200598771 | 235 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA9592387 RCV000309500 rs767108206 |
236 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs371766484 | 236 | R>W | No |
ESP ExAC gnomAD |
|
| rs201944761 | 238 | L>V | No | ExAC | |
|
RCV000724330 rs779215539 CA246803 |
243 | P>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779215539 | 243 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2033052768 | 243 | P>T | No | Ensembl | |
| rs758770683 | 245 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1568474951 | 248 | F>L | No | Ensembl | |
| rs1267205436 | 249 | G>S | No | gnomAD | |
| rs2033054353 | 252 | K>R | No | gnomAD | |
| rs1210513122 | 253 | T>R | No |
TOPMed gnomAD |
|
| rs1215134894 | 254 | V>A | No |
TOPMed gnomAD |
|
| rs1215134894 | 254 | V>G | No |
TOPMed gnomAD |
|
| rs2033055495 | 256 | N>K | No | Ensembl | |
| rs1239138859 | 259 | S>P | No | gnomAD | |
| rs755126898 | 261 | R>* | No |
ExAC gnomAD |
|
| rs371293576 | 261 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs568322917 | 265 | F>L | No |
1000Genomes ExAC gnomAD |
|
| rs1167750692 | 266 | I>T | No |
TOPMed gnomAD |
|
|
COSM4991317 rs745875824 COSM4991319 COSM4991318 |
267 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs771559493 | 267 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs745875824 | 267 | R>S | No |
ExAC TOPMed gnomAD |
|
|
RCV000513846 CA182278 RCV000155161 rs55645295 |
268 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs760233295 | 269 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2033135662 | 271 | D>H | No | Ensembl | |
| rs1432469829 | 273 | A>T | No |
TOPMed gnomAD |
|
| rs1211069798 | 274 | G>R | No |
TOPMed gnomAD |
|
| rs1200369033 | 275 | Y>N | No |
TOPMed gnomAD |
|
| rs766889896 | 276 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs768080680 | 277 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs768080680 | 277 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1299318572 | 279 | A>D | No | TOPMed | |
|
COSM4285563 COSM382846 COSM382845 rs756240699 |
279 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2033137817 | 280 | N>H | No | Ensembl | |
| rs2033137986 | 280 | N>S | No | Ensembl | |
| rs2033138306 | 281 | I>M | No |
TOPMed gnomAD |
|
| rs1600887906 | 283 | T>P | No | Ensembl | |
| rs1038594993 | 284 | Y>D | No | Ensembl | |
| rs1600894586 | 284 | Y>S | No | Ensembl | |
| rs374321913 | 286 | L>V | No |
ESP TOPMed |
|
| rs1301737138 | 289 | S>L | No |
TOPMed gnomAD |
|
| rs894504705 | 290 | R>Q | No | gnomAD | |
| rs1241476547 | 291 | A>G | No | gnomAD | |
| TCGA novel | 291 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1223133544 | 293 | R>C | No |
TOPMed gnomAD |
|
| rs1246870851 | 293 | R>H | No |
TOPMed gnomAD |
|
| rs1223133544 | 293 | R>S | No |
TOPMed gnomAD |
|
| rs760011035 | 294 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1157964391 | 297 | D>G | No | gnomAD | |
| rs760641066 | 297 | D>N | No |
ExAC gnomAD |
|
| rs368210197 | 298 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033324985 | 298 | E>K | No | TOPMed | |
| rs1398961110 | 299 | C>Y | No |
TOPMed gnomAD |
|
| rs1167025153 | 300 | S>G | No | gnomAD | |
| rs2033326349 | 303 | I>V | No | TOPMed | |
| rs2123230962 | 306 | Q>* | No | Ensembl | |
| rs757415923 | 309 | G>A | No |
ExAC TOPMed gnomAD |
|
|
CA176881 RCV000151182 rs727503222 |
309 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs777112799 | 310 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1371881439 | 310 | G>A | No | gnomAD | |
| rs1371881439 | 310 | G>D | No | gnomAD | |
| rs920241916 | 311 | A>S | No | TOPMed | |
| rs920241916 | 311 | A>T | No | TOPMed | |
| rs779114828 | 312 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1291913331 | 314 | Q>* | No | TOPMed | |
| rs750176156 | 315 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs750176156 | 315 | L>V | No |
ExAC TOPMed gnomAD |
|
|
rs1167586773 RCV001757998 |
317 | A>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1568481229 | 318 | D>A | No | Ensembl | |
| rs764524971 | 318 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1568481229 | 318 | D>V | No | Ensembl | |
|
rs2123237278 RCV001386609 |
319 | L>missing | No |
ClinVar dbSNP |
|
|
COSM999601 COSM999600 |
319 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335360912 | 321 | L>F | No |
TOPMed gnomAD |
|
| rs1335360912 | 321 | L>I | No |
TOPMed gnomAD |
|
| rs2033413538 | 321 | L>P | No | TOPMed | |
| rs367826402 | 322 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs367826402 | 322 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs367826402 | 322 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs748522233 | 322 | E>V | No |
TOPMed gnomAD |
|
| rs1340633617 | 323 | P>T | No | gnomAD | |
| rs1375444153 | 324 | C>F | No | TOPMed | |
| rs1568481296 | 324 | C>R | No | Ensembl | |
| rs1375444153 | 324 | C>Y | No | TOPMed | |
| rs201637434 | 325 | S>P | No |
1000Genomes ExAC gnomAD |
|
| rs750688339 | 326 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs765391378 | 326 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1219658594 | 327 | Y>H | No | gnomAD | |
|
COSM5471088 COSM5471090 COSM5471089 rs1208777631 |
328 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs371272700 CA9592475 RCV000308292 |
328 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1265377598 | 331 | T>I | No |
TOPMed gnomAD |
|
|
rs200900231 RCV001771528 |
332 | N>K | No |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
| rs558087419 | 333 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781278968 | 333 | G>V | No | ExAC | |
| rs755736008 | 334 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs34498817 | 334 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1236229277 | 335 | S>P | No |
TOPMed gnomAD |
|
| TCGA novel | 336 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs35315400 | 337 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs866396907 | 338 | P>S | No | Ensembl | |
|
COSM5981592 COSM5981590 COSM5981591 rs775868764 |
339 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1360544961 | 339 | G>V | No |
TOPMed gnomAD |
|
| rs2033418564 | 340 | Q>K | No | gnomAD | |
| rs573739001 | 340 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1315783438 | 341 | E>D | No | gnomAD | |
| rs375565162 | 342 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1345506119 | 344 | L>I | No | gnomAD | |
| rs2033419846 | 344 | L>R | No | Ensembl | |
| rs1345506119 | 344 | L>V | No | gnomAD | |
|
RCV001763304 rs2123237923 |
347 | E>A | No |
ClinVar Ensembl dbSNP |
|
| rs1242166642 | 348 | T>A | No |
TOPMed gnomAD |
|
|
RCV001588140 rs151082668 |
348 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM440028 COSM5206837 COSM440027 |
348 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773415813 | 349 | L>P | No |
ExAC gnomAD |
|
| rs901652663 | 350 | E>Q | No |
TOPMed gnomAD |
|
| rs1600898536 | 351 | S>A | No | Ensembl | |
| rs763292852 | 351 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs139215122 | 353 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs139215122 | 353 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs139215122 RCV001566173 |
353 | R>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM1304945 rs1180983594 COSM1304946 |
353 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1600898597 | 354 | V>G | No | Ensembl | |
| rs1052838764 | 354 | V>I | No |
TOPMed gnomAD |
|
|
COSM6085731 COSM6085732 COSM6085730 |
356 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4894108 COSM4894110 COSM4894109 |
356 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs727505251 RCV000156773 CA185543 |
357 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1156353254 | 357 | F>L | No | gnomAD | |
| rs2123238124 | 357 | F>S | No | Ensembl | |
| rs377555668 | 358 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs377555668 | 358 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs368937416 | 359 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778465188 | 360 | E>D | No |
ExAC gnomAD |
|
| rs756871384 | 360 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs747346701 | 361 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1168584760 | 362 | I>T | No | gnomAD | |
| TCGA novel | 363 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2033424408 |
364 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2034005509 | 365 | M>I | No | TOPMed | |
| rs1220641475 | 365 | M>L | No |
TOPMed gnomAD |
|
| rs2034005380 | 365 | M>T | No |
TOPMed gnomAD |
|
|
rs772439130 COSM5056851 COSM5056852 COSM5056853 |
367 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs759736898 | 367 | R>W | No |
ExAC gnomAD |
|
| rs760581389 | 368 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1486310605 | 368 | M>V | No | gnomAD | |
|
COSM5936501 COSM5936499 COSM5936500 |
369 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753764490 | 374 | Q>H | No |
ExAC gnomAD |
|
| rs1426504523 | 377 | N>H | No | gnomAD | |
| rs1181352721 | 378 | I>N | No | TOPMed | |
| rs1181352721 | 378 | I>T | No | TOPMed | |
| rs2034007617 | 378 | I>V | No | TOPMed | |
| rs757986751 | 379 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs757986751 | 379 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM459883 COSM459882 |
381 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756491343 | 382 | R>G | No |
ExAC gnomAD |
|
| rs1388348740 | 383 | E>K | No |
TOPMed gnomAD |
|
| rs1388348740 | 383 | E>Q | No |
TOPMed gnomAD |
|
| rs1361595465 | 384 | R>Q | No |
TOPMed gnomAD |
|
|
rs778312429 CA9592539 RCV000599820 |
384 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1600924738 | 386 | T>P | No | Ensembl | |
| rs778802280 | 387 | D>E | No |
ExAC gnomAD |
|
|
RCV001754865 rs771031207 |
387 | D>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001358319 rs771031207 |
387 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs933921217 | 390 | T>I | No | Ensembl | |
|
COSM4080308 COSM4080309 COSM4080310 |
391 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1314701207 | 391 | M>V | No | TOPMed | |
| rs532887367 | 392 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1011848763 | 397 | A>S | No | Ensembl | |
|
RCV003737025 rs552730148 RCV001195619 |
398 | Q>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1167367015 | 399 | K>N | No | gnomAD | |
| rs1311271296 | 400 | L>F | No |
1000Genomes TOPMed |
|
| rs1600931326 | 400 | L>R | No | Ensembl | |
| rs2123294597 | 401 | C>F | No | Ensembl | |
| rs747977914 | 402 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1262764582 | 405 | G>A | No |
TOPMed gnomAD |
|
| rs1262764582 | 405 | G>E | No |
TOPMed gnomAD |
|
| rs1035774765 | 405 | G>R | No |
TOPMed gnomAD |
|
| rs1182353842 | 406 | L>V | No |
TOPMed gnomAD |
|
|
rs368472938 RCV001452906 |
407 | G>E | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1234663751 | 407 | G>R | No | gnomAD | |
| rs2034157253 | 408 | V>M | No | Ensembl | |
| rs773980026 | 409 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1438202967 | 411 | F>S | No | gnomAD | |
| rs767205350 | 413 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs201603885 | 413 | R>Q | No |
TOPMed gnomAD |
|
|
RCV002516034 rs372324948 RCV000151184 CA176885 |
414 | A>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1256956510 | 414 | A>S | No | TOPMed | |
| rs372324948 | 414 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2123294820 | 416 | L>I | No | Ensembl | |
|
rs1270544217 COSM5173774 COSM1395400 COSM1395401 |
419 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1418810562 | 422 | V>F | No | gnomAD | |
| rs2034159163 | 423 | G>D | No | TOPMed | |
| rs1163082726 | 424 | R>* | No | gnomAD | |
| TCGA novel | 425 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs556541366 | 426 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2123294954 RCV001942016 |
427 | V>missing | No |
ClinVar dbSNP |
|
| rs1353329111 | 427 | V>G | No | gnomAD | |
| rs1045287658 | 428 | Q>R | No |
TOPMed gnomAD |
|
| rs1312996905 | 430 | A>G | No |
TOPMed gnomAD |
|
| rs1416065965 | 430 | A>S | No | gnomAD | |
| rs747096231 | 432 | T>A | No |
ExAC gnomAD |
|
| rs2034160663 | 432 | T>I | No | TOPMed | |
| rs372597834 | 434 | E>K | No |
ESP TOPMed gnomAD |
|
| rs906782944 | 435 | Q>R | No | gnomAD | |
| rs371046797 | 436 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA |
| rs375383776 | 437 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1030556511 | 438 | F>L | No |
TOPMed gnomAD |
|
| rs745351261 | 438 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs775005931 | 439 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1315803822 | 439 | A>V | No |
TOPMed gnomAD |
|
| rs2034247237 | 441 | E>A | No | TOPMed | |
|
COSM999602 COSM999603 |
441 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768433424 | 442 | A>T | No |
ExAC gnomAD |
|
| rs773641347 | 442 | A>V | No |
ExAC gnomAD |
|
| TCGA novel | 443 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1310400256 | 444 | A>T | No |
TOPMed gnomAD |
|
|
RCV001952381 rs2123302097 |
445 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs535619001 | 446 | A>T | No |
1000Genomes TOPMed gnomAD |
|
|
COSM5130430 COSM1395403 COSM1395402 |
446 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs554040475 | 448 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2034248093 | 448 | Y>C | No | TOPMed | |
| TCGA novel | 449 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759502432 | 449 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs376322446 | 450 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
|
RCV001770057 CA133461 rs370353590 RCV000037024 |
453 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001837701 rs370353590 |
453 | R>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs572234218 | 454 | W>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1252890165 | 454 | W>L | No | gnomAD | |
| rs539765596 | 456 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs539765596 | 456 | V>G | No |
1000Genomes ExAC gnomAD |
|
| rs745888926 | 458 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs757828611 RCV001200243 |
458 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs968500267 | 460 | N>S | No |
TOPMed gnomAD |
|
| rs968500267 | 460 | N>T | No |
TOPMed gnomAD |
|
| rs746502994 | 461 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1392060296 | 461 | R>Q | No |
TOPMed gnomAD |
|
| rs746502994 | 461 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2034250772 | 462 | A>V | No | TOPMed | |
| rs368089608 | 465 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs749683080 | 466 | S>R | No | gnomAD | |
| rs1419535779 | 467 | P>L | No |
TOPMed gnomAD |
|
| rs755662126 | 468 | R>C | No |
ExAC TOPMed gnomAD |
|
|
RCV001358077 rs375694189 |
468 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs375694189 | 468 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs755662126 | 468 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2034252385 | 469 | Q>R | No | Ensembl | |
| rs775600866 | 470 | G>D | No |
ExAC gnomAD |
|
| rs202198038 | 471 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2034253058 | 472 | S>F | No | Ensembl | |
| rs764280486 | 473 | F>Y | No |
ExAC gnomAD |
|
|
COSM3757055 COSM3757054 COSM3757056 |
474 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1179450273 | 474 | L>V | No |
TOPMed gnomAD |
|
| TCGA novel | 475 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1475307304 | 476 | I>V | No | gnomAD | |
|
COSM1395404 COSM5101167 COSM1395405 |
479 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366436776 | 479 | I>V | No |
TOPMed gnomAD |
|
| rs887619644 | 480 | A>P | No |
TOPMed gnomAD |
|
| rs887619644 | 480 | A>T | No |
TOPMed gnomAD |
|
|
COSM3835424 rs765142655 COSM3835423 COSM3835425 |
480 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 482 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1038773469 | 484 | I>N | No | TOPMed | |
| rs1296684233 | 488 | N>K | No | gnomAD | |
| rs565916072 | 488 | N>S | No | 1000Genomes | |
| rs1326232209 | 490 | F>L | No |
TOPMed gnomAD |
|
| rs1226760684 | 491 | E>K | No | gnomAD | |
| rs2034287478 | 492 | Q>E | No | gnomAD | |
| rs1283088658 | 493 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2034288022 | 497 | Y>H | No | gnomAD | |
| rs2034288131 | 499 | N>T | No | Ensembl | |
| rs2034288388 | 500 | E>K | No |
TOPMed gnomAD |
|
| rs1486622241 | 504 | Q>* | No | gnomAD | |
| rs1186768509 | 505 | L>F | No | gnomAD | |
| rs1260712079 | 509 | T>I | No | gnomAD | |
| rs371254858 | 510 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs766316068 | 511 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1195421013 | 511 | F>S | No | gnomAD | |
| rs1175500051 | 512 | V>G | No | gnomAD | |
|
rs754530741 RCV000996977 |
512 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1357530841 | 513 | L>V | No |
TOPMed gnomAD |
|
| rs780906800 | 514 | E>K | No |
ExAC gnomAD |
|
| rs2034290512 | 517 | E>D | No | Ensembl | |
|
COSM283021 COSM283020 |
518 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375667114 | 519 | Q>H | No |
ESP ExAC gnomAD |
|
|
COSM5220264 COSM1481359 rs755751190 COSM1481360 |
520 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs777311841 | 520 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs777311841 | 520 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs772361032 | 522 | G>S | No |
ExAC gnomAD |
|
| rs1259985487 | 525 | W>S | No | gnomAD | |
| rs747569475 | 528 | L>R | No |
ExAC gnomAD |
|
| rs2034291940 | 528 | L>V | No | Ensembl | |
| rs1215986558 | 529 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1259851963 | 531 | G>R | No |
TOPMed gnomAD |
|
| rs1259851963 | 531 | G>S | No |
TOPMed gnomAD |
|
| rs776630032 | 532 | L>F | No |
ExAC TOPMed gnomAD |
|
|
COSM475068 COSM475069 |
532 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs942541070 COSM3378814 COSM3378813 COSM3378815 |
533 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs727504564 | 534 | L>P | No |
TOPMed gnomAD |
|
|
RCV000155729 RCV002262758 CA183373 rs727504564 |
534 | L>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1008114148 | 536 | P>S | No | gnomAD | |
| rs2034293554 | 538 | I>V | No | TOPMed | |
| rs1600938646 | 539 | D>A | No | Ensembl | |
| rs1224107917 | 539 | D>E | No |
TOPMed gnomAD |
|
| rs762779652 | 539 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs766155588 | 540 | L>F | No | ExAC | |
| rs1369840161 | 541 | I>L | No |
TOPMed gnomAD |
|
| rs751530276 | 541 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2034294462 | 542 | E>K | No | TOPMed | |
| rs2034294462 | 542 | E>Q | No | TOPMed | |
| rs1454443536 | 543 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2034294625 | 543 | R>W | No | TOPMed | |
|
rs727505282 COSM999605 RCV001815213 CA185627 COSM5469276 RCV000156811 COSM999604 |
544 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs727505282 | 544 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs767539684 | 546 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1306832787 | 548 | P>A | No |
TOPMed gnomAD |
|
|
COSM1395409 COSM5161778 COSM1395408 |
548 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1306832787 | 548 | P>S | No |
TOPMed gnomAD |
|
|
COSM1395407 COSM1395406 COSM4612102 |
549 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1416179014 | 552 | A>S | No | gnomAD | |
| rs1226454688 | 559 | W>L | No | gnomAD | |
|
RCV001751995 rs1226454688 |
559 | W>S | No |
ClinVar dbSNP gnomAD |
|
| rs1274999488 | 561 | P>L | No | gnomAD | |
| rs2123309601 | 562 | K>M | No | Ensembl | |
| TCGA novel | 563 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 563 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761879168 | 564 | T>I | No | gnomAD | |
| rs1600940905 | 566 | K>T | No | TOPMed | |
| rs764905663 | 567 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1180522078 | 569 | V>L | No | gnomAD | |
| rs1314161480 | 572 | V>I | No | TOPMed | |
| rs1422136892 | 574 | Q>H | No | gnomAD | |
| rs940901423 | 578 | G>C | No |
TOPMed gnomAD |
|
| rs940901423 | 578 | G>S | No |
TOPMed gnomAD |
|
| TCGA novel | 580 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748671859 | 581 | K>Q | No |
ExAC gnomAD |
|
| rs1445498283 | 584 | R>Q | No |
TOPMed gnomAD |
|
| rs545603705 | 584 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs542322341 | 585 | P>L | No |
TOPMed gnomAD |
|
| rs1362419703 | 586 | R>T | No | gnomAD | |
| rs2034335042 | 587 | H>Y | No | Ensembl | |
|
rs950320701 RCV002040588 |
589 | R>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1340123788 | 590 | D>Y | No | gnomAD | |
|
COSM459880 COSM459881 |
591 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM999608 COSM999609 |
593 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM440031 COSM440032 COSM5215953 |
596 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772057645 | 596 | V>I | No |
ExAC gnomAD |
|
| rs1442021087 | 597 | L>I | No |
TOPMed gnomAD |
|
| rs1442021087 | 597 | L>V | No |
TOPMed gnomAD |
|
| rs2034336735 | 599 | Y>C | No | TOPMed | |
| rs576014205 | 600 | A>T | No |
1000Genomes ExAC gnomAD |
|
|
RCV002251606 COSM4080315 COSM4080316 rs764094116 COSM4080314 |
600 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1568501789 | 606 | K>E | No | Ensembl | |
| TCGA novel | 607 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768432809 | 608 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1486270635 | 609 | E>K | No | Ensembl | |
| rs761285149 | 610 | W>G | No |
ExAC TOPMed gnomAD |
|
| rs2034446473 | 612 | M>I | No | Ensembl | |
| rs1203499109 | 612 | M>T | No |
TOPMed gnomAD |
|
| rs200231790 | 612 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1352842790 | 613 | K>E | No |
TOPMed gnomAD |
|
| rs1330127929 | 613 | K>R | No | gnomAD | |
| rs762536654 | 615 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs762536654 | 615 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1232885432 | 615 | M>V | No |
TOPMed gnomAD |
|
| rs766025774 | 621 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs556139921 | 621 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs556139921 | 621 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1233878783 | 622 | V>A | No |
TOPMed gnomAD |
|
| rs568160869 | 622 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201827463 | 623 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1461824527 | 624 | A>V | No | gnomAD | |
| rs779075376 | 627 | H>Q | No |
ExAC gnomAD |
|
| rs1208894285 | 628 | Q>L | No |
TOPMed gnomAD |
|
| rs1208894285 | 628 | Q>R | No |
TOPMed gnomAD |
|
| rs2034449009 | 630 | T>A | No |
TOPMed gnomAD |
|
| rs376267080 | 632 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199696801 | 632 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA182283 RCV000155164 RCV000906499 rs376267080 |
632 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1600946590 | 634 | T>A | No | Ensembl | |
| rs780989115 | 634 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1357747875 | 635 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1600946652 | 639 | K>E | No | Ensembl | |
| rs1265341878 | 640 | D>Y | No | gnomAD | |
| rs1456039162 | 641 | V>A | No |
TOPMed gnomAD |
|
| rs1191592686 | 641 | V>M | No | TOPMed | |
| rs1167509369 | 642 | E>* | No |
TOPMed gnomAD |
|
| rs1251109492 | 642 | E>D | No |
TOPMed gnomAD |
|
| rs1167509369 | 642 | E>K | No |
TOPMed gnomAD |
|
| rs2034626759 | 645 | V>A | No | TOPMed | |
| rs755943083 | 645 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs777682825 | 646 | G>V | No |
ExAC gnomAD |
|
| rs1024979045 | 650 | V>L | No | gnomAD | |
| rs563486969 | 653 | L>P | No | gnomAD | |
| rs1321001529 | 654 | G>D | No | gnomAD | |
| rs1290463902 | 654 | G>S | No | gnomAD | |
|
COSM3537103 COSM3537104 COSM3537105 |
656 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778416774 | 656 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1471797586 | 657 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2034629111 | 658 | P>A | No | Ensembl | |
| rs2123333694 | 658 | P>R | No | Ensembl | |
|
RCV002040798 rs2123333715 |
660 | G>D | No |
ClinVar Ensembl dbSNP |
|
|
COSM3537107 COSM3537108 rs373295946 COSM3537106 |
660 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs370269938 | 661 | R>C | No |
ESP TOPMed gnomAD |
|
| rs775328084 | 661 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1371867876 | 662 | P>H | No | gnomAD | |
| rs1463314712 | 663 | R>C | No |
TOPMed gnomAD |
|
|
rs748496477 RCV001761090 |
663 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2034630257 | 664 | R>W | No | gnomAD | |
| rs2123333799 | 665 | G>V | No | Ensembl | |
| rs1568506077 | 666 | M>I | No | Ensembl | |
| rs763463483 | 667 | F>L | No |
ExAC gnomAD |
|
| rs773845578 | 667 | F>S | No |
ExAC gnomAD |
|
| rs1284519459 | 668 | R>G | No |
TOPMed gnomAD |
|
| rs1284519459 | 668 | R>W | No |
TOPMed gnomAD |
|
|
COSM5390370 COSM5390371 COSM5390372 |
671 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs994993110 | 673 | L>F | No |
TOPMed gnomAD |
|
| rs2034631740 | 674 | Y>C | No | Ensembl | |
| rs1274054158 | 675 | K>N | No | gnomAD | |
| rs773291251 | 675 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs1482169333 | 677 | S>Y | No | gnomAD | |
| rs1410789508 | 679 | S>R | No | gnomAD | |
|
rs373929652 RCV000658216 |
680 | R>C | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001903375 rs377519378 |
680 | R>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs377519378 | 680 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs751776435 | 683 | A>T | No | Ensembl | |
| rs763817640 | 685 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs763817640 | 685 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs757176209 | 687 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs745357772 | 688 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs757883518 | 689 | N>H | No |
ExAC gnomAD |
|
| rs779851591 | 689 | N>K | No |
ExAC gnomAD |
|
| rs746720419 | 691 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2034634206 | 693 | V>L | No | TOPMed | |
| rs1445619669 | 694 | R>C | No | gnomAD | |
| rs1284284436 | 694 | R>H | No |
TOPMed gnomAD |
|
| rs2034634816 | 695 | C>R | No | Ensembl | |
| TCGA novel | 695 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1208047576 | 696 | I>T | No | gnomAD | |
| rs201317527 | 696 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs555236417 | 699 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs555236417 | 699 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs771421242 | 700 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2034635864 | 701 | E>G | No | TOPMed | |
| rs1031566547 | 701 | E>K | No |
TOPMed gnomAD |
|
| rs1031566547 | 701 | E>Q | No |
TOPMed gnomAD |
|
| rs1275017833 | 702 | K>N | No |
TOPMed gnomAD |
|
| rs527871042 | 705 | G>A | No |
1000Genomes ExAC gnomAD |
|
|
RCV001768917 rs371501957 |
705 | G>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1403261587 | 708 | E>* | No | gnomAD | |
| rs2034722094 | 708 | E>A | No | Ensembl | |
| rs1351471281 | 709 | P>L | No |
TOPMed gnomAD |
|
| rs552485033 | 709 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772570358 | 710 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs760763918 | 710 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs909960778 | 711 | L>R | No |
TOPMed gnomAD |
|
| rs765003381 | 712 | V>G | No |
ExAC gnomAD |
|
| rs367822041 | 712 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs948164898 | 713 | L>V | No |
TOPMed gnomAD |
|
|
rs1252157393 COSM999615 COSM999616 |
717 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs750250667 | 717 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs750250667 | 717 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1252157393 | 717 | R>S | No |
TOPMed gnomAD |
|
| rs1258280894 | 719 | N>H | No | TOPMed | |
| rs2034725063 | 720 | G>R | No | gnomAD | |
| rs1600961892 | 721 | V>G | No | Ensembl | |
| rs866792953 | 723 | E>D | No |
TOPMed gnomAD |
|
| rs1473050484 | 723 | E>G | No |
TOPMed gnomAD |
|
|
RCV001765235 rs28940307 |
726 | R>C | No |
ClinVar Ensembl dbSNP |
|
|
rs2123341583 RCV001548690 |
726 | R>H | No |
ClinVar Ensembl dbSNP |
|
| rs1390099513 | 729 | R>C | No |
TOPMed gnomAD |
|
| rs866143471 | 729 | R>H | No | gnomAD | |
| rs866143471 | 729 | R>L | No | gnomAD | |
| rs1390099513 | 729 | R>S | No |
TOPMed gnomAD |
|
| rs377673096 | 731 | G>C | No | Ensembl | |
| rs2034726992 | 732 | F>L | No | gnomAD | |
| rs1409477675 | 734 | N>S | No | gnomAD | |
| rs780868698 | 735 | R>C | No |
ExAC gnomAD |
|
| rs751594128 | 735 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs779080330 | 736 | I>L | No |
ExAC gnomAD |
|
| rs780583341 | 740 | E>K | No |
ExAC gnomAD |
|
| rs1482498630 | 741 | F>L | No | gnomAD | |
| rs768787467 | 742 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 744 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1442852878 | 744 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs377216284 | 745 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2123347124 | 746 | E>D | No | Ensembl | |
| rs562423876 | 751 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759478706 | 752 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs868666229 | 752 | A>T | No |
TOPMed gnomAD |
|
| rs774813854 | 753 | I>M | No |
ExAC gnomAD |
|
|
rs767521890 RCV001822040 |
753 | I>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2034792468 | 754 | P>L | No | TOPMed | |
| rs760278066 | 755 | K>E | No |
ExAC gnomAD |
|
| rs763618623 | 755 | K>N | No |
ExAC gnomAD |
|
| rs1269590310 | 755 | K>R | No | gnomAD | |
| rs1269590310 | 755 | K>T | No | gnomAD | |
| rs753553245 | 756 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1009582416 | 761 | K>T | No | TOPMed | |
| rs766675018 | 762 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2123347353 | 763 | A>V | No | Ensembl | |
| rs1474700231 | 766 | K>T | No |
TOPMed gnomAD |
|
| rs751928048 | 767 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1254957093 | 767 | M>L | No | TOPMed | |
| rs2034793860 | 767 | M>T | No | TOPMed | |
| rs1360233657 | 768 | I>V | No | gnomAD | |
| rs745614655 | 770 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs745614655 | 770 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM4080317 COSM4080319 rs745614655 COSM4080318 |
770 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs761338669 | 773 | L>V | No |
ExAC gnomAD |
|
| rs769417068 | 774 | D>E | No |
ExAC TOPMed gnomAD |
|
|
COSM1481362 COSM1481361 COSM5212604 |
774 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772893005 | 776 | N>K | No |
ExAC TOPMed gnomAD |
|
|
COSM3990181 COSM3990180 COSM3990179 |
776 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759814830 | 778 | Y>S | No |
ExAC gnomAD |
|
|
RCV001731526 rs767984672 CA9592961 RCV000218542 |
779 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9592962 RCV000489001 rs370765705 |
779 | R>H | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
COSM1190119 COSM1190120 |
779 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767984672 | 779 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs764718191 | 780 | V>M | No |
ExAC gnomAD |
|
| rs2034874397 | 782 | Q>H | No | Ensembl | |
| rs757451449 | 783 | S>G | No |
ExAC gnomAD |
|
| rs765548528 | 783 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs765548528 | 783 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1016453360 | 785 | I>V | No | TOPMed | |
|
COSM3537113 rs963046065 COSM3537112 COSM3537114 |
786 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs779829368 | 788 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1435326547 | 789 | A>V | No | gnomAD | |
| TCGA novel | 790 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2034876388 | 790 | G>R | No | Ensembl | |
| rs2034876652 | 791 | V>I | No | Ensembl | |
| rs781160513 | 794 | Q>H | No |
ExAC gnomAD |
|
| rs963657750 | 795 | L>P | No | Ensembl | |
| rs2123354106 | 797 | E>G | No | Ensembl | |
| rs199992699 | 798 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs370936318 | 799 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4080325 COSM4080324 rs370936318 COSM4080323 |
799 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1464233223 | 800 | D>V | No |
TOPMed gnomAD |
|
| rs1001363779 | 802 | K>M | No | Ensembl | |
| rs1388820820 | 803 | V>I | No |
TOPMed gnomAD |
|
| rs772726321 | 804 | T>S | No |
ExAC gnomAD |
|
| rs181315427 | 805 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs181315427 | 805 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762221501 | 806 | I>V | No | Ensembl | |
| rs761170226 | 807 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1387242241 | 808 | V>D | No | gnomAD | |
| rs1176462242 | 808 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2123354296 | 809 | S>F | No | Ensembl | |
| TCGA novel | 810 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959759669 RCV001770679 |
813 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs2034880960 | 814 | A>V | No | Ensembl | |
| rs761967521 | 815 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM3692981 COSM3692982 rs761967521 COSM3692980 |
815 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs373763780 | 815 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs765347682 | 816 | G>E | No |
ExAC gnomAD |
|
|
rs992550534 COSM3893099 COSM3893101 COSM3893100 |
820 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2034881670 | 820 | R>P | No | Ensembl | |
| rs1360069447 | 821 | R>G | No |
TOPMed gnomAD |
|
| rs753356694 | 826 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs547836952 | 826 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1173740843 | 827 | Q>* | No | TOPMed | |
| rs2034958059 | 830 | Q>E | No | TOPMed | |
| rs1357824875 | 831 | S>N | No |
TOPMed gnomAD |
|
|
RCV002001080 rs376582564 |
832 | A>T | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2034958570 | 834 | R>W | No |
TOPMed gnomAD |
|
| rs2034958703 | 836 | M>T | No | gnomAD | |
| rs2034958834 | 837 | Q>K | No | Ensembl | |
| rs2034958955 | 837 | Q>R | No | Ensembl | |
|
rs748547813 RCV001550168 |
838 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1184086560 | 839 | N>S | No | TOPMed | |
| rs1184086560 | 839 | N>T | No | TOPMed | |
| rs1437071891 | 840 | C>F | No |
TOPMed gnomAD |
|
| rs770315707 | 841 | A>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001002365 rs373457292 RCV001860514 |
843 | Y>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs373457292 | 843 | Y>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs373457292 | 843 | Y>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 844 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774429048 | 845 | K>E | No |
ExAC gnomAD |
|
| TCGA novel | 847 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759689014 | 847 | R>K | No |
ExAC gnomAD |
|
|
CA10577107 RCV000223540 rs876657872 |
848 | H>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1223203530 | 848 | H>R | No | TOPMed | |
| rs2034961332 | 849 | W>C | No | Ensembl | |
| rs1391228897 | 852 | W>* | No | gnomAD | |
| rs760426191 | 853 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs34805056 | 853 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs2123360945 | 854 | L>V | No | Ensembl | |
| rs540204869 | 857 | K>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs371045615 | 858 | V>L | No |
ESP TOPMed gnomAD |
|
| rs371045615 | 858 | V>M | No |
ESP TOPMed gnomAD |
|
| rs1600982355 | 860 | P>R | No | Ensembl | |
|
RCV003770198 RCV001195618 rs1324093100 |
860 | P>T | No |
ClinVar dbSNP gnomAD |
|
| rs1369643833 | 861 | L>Q | No | gnomAD | |
| TCGA novel | 864 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1460013181 | 864 | V>M | No | gnomAD | |
| TCGA novel | 866 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771474597 | 866 | R>W | No |
ExAC gnomAD |
|
| rs1191383881 | 869 | E>D | No |
TOPMed gnomAD |
|
| rs2123372186 | 869 | E>G | No | 1000Genomes | |
| rs1480995206 | 872 | Q>* | No | gnomAD | |
| rs1176292498 | 873 | A>T | No |
TOPMed gnomAD |
|
| rs2035102916 | 873 | A>V | No | Ensembl | |
| rs774376084 | 874 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs774376084 | 874 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs774376084 | 874 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1404486547 | 874 | R>W | No |
TOPMed gnomAD |
|
| rs1288887461 | 875 | A>T | No |
TOPMed gnomAD |
|
| rs759636037 | 876 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs759636037 | 876 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1175102093 | 877 | E>Q | No |
TOPMed gnomAD |
|
| rs982960958 | 878 | L>M | No | TOPMed | |
| rs2035104459 | 880 | K>T | No | gnomAD | |
| rs1381482981 | 881 | V>M | No |
TOPMed gnomAD |
|
| rs1281179263 | 883 | E>K | No | gnomAD | |
| rs1216415544 | 885 | Q>R | No | gnomAD | |
| rs868043560 | 887 | Q>K | No | Ensembl | |
| rs2035105558 | 888 | S>G | No | Ensembl | |
| rs867271424 | 888 | S>R | No | TOPMed | |
| rs760505025 | 889 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs760505025 | 889 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs763734848 | 889 | A>V | No |
ExAC gnomAD |
|
| rs867487844 | 890 | R>G | No | TOPMed | |
| rs867487844 | 890 | R>S | No | TOPMed | |
| rs1490582692 | 891 | E>G | No |
TOPMed gnomAD |
|
| rs2035106296 | 891 | E>Q | No | TOPMed | |
| rs1427661340 | 892 | V>G | No | gnomAD | |
| rs537624592 | 892 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs537624592 | 892 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs2123372561 | 893 | G>E | No | Ensembl | |
| rs2035106997 | 895 | L>P | No | Ensembl | |
| rs1017529078 | 896 | Q>E | No |
TOPMed gnomAD |
|
| rs2035107253 | 896 | Q>R | No | Ensembl | |
| rs1160560965 | 897 | G>D | No | gnomAD | |
| rs1421333652 | 897 | G>R | No |
TOPMed gnomAD |
|
| rs1421333652 | 897 | G>S | No |
TOPMed gnomAD |
|
| rs866664669 | 898 | R>L | No | gnomAD | |
| rs1600982791 | 899 | V>G | No | Ensembl | |
| rs867424947 | 899 | V>L | No | Ensembl | |
| rs1304551812 | 900 | A>S | No |
TOPMed gnomAD |
|
| rs1945672258 | 900 | A>V | No | Ensembl | |
| rs1365770171 | 901 | Q>L | No | gnomAD | |
| rs1365770171 | 901 | Q>R | No | gnomAD | |
| rs1306379026 | 902 | L>V | No | TOPMed | |
| rs2035159581 | 904 | E>D | No | TOPMed | |
| rs1243201731 | 904 | E>K | No | gnomAD | |
|
RCV000151186 rs374883445 RCV001090750 CA176889 |
906 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs772197124 | 907 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs772197124 | 907 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2035160397 | 907 | A>V | No | Ensembl | |
| rs755994602 | 908 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs747130393 | 908 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1337379742 | 910 | A>T | No | gnomAD | |
| rs1383593180 | 911 | E>K | No | gnomAD | |
| rs1452059089 | 914 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 914 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs576611342 | 914 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2035161795 | 915 | A>T | No | Ensembl | |
| rs1215396793 | 916 | E>G | No | gnomAD | |
| rs371930147 | 917 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1206099094 | 919 | L>P | No |
TOPMed gnomAD |
|
| rs777548369 | 920 | C>R | No |
TOPMed gnomAD |
|
| rs1201175639 | 922 | E>V | No | gnomAD | |
| rs999588541 | 923 | A>D | No |
TOPMed gnomAD |
|
| rs999588541 | 923 | A>G | No |
TOPMed gnomAD |
|
| rs1417114679 | 925 | E>K | No | gnomAD | |
| rs142134135 | 926 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000218974 rs142134135 CA9593069 |
926 | T>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs561594120 | 927 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754550686 | 927 | R>W | No |
ExAC TOPMed |
|
| rs1468188981 | 928 | G>E | No | gnomAD | |
| rs1332213718 | 929 | R>K | No | gnomAD | |
| rs2123377336 | 930 | L>Q | No | Ensembl | |
| TCGA novel | 932 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1055659592 | 932 | A>V | No |
TOPMed gnomAD |
|
|
rs757682381 COSM3692988 COSM3692987 COSM3692986 |
933 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000894577 rs113993956 |
933 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs757682381 | 933 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1284346322 | 934 | K>E | No |
TOPMed gnomAD |
|
| rs1284346322 | 934 | K>Q | No |
TOPMed gnomAD |
|
| rs1323374423 | 935 | Q>* | No | gnomAD | |
| rs758910308 | 936 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs886054591 | 940 | V>L | No | TOPMed | |
| rs1600985956 | 941 | V>G | No | Ensembl | |
| rs1014020902 | 941 | V>M | No |
TOPMed gnomAD |
|
| rs1600985967 | 942 | S>A | No | Ensembl | |
| rs1041735838 | 944 | L>Q | No | Ensembl | |
| rs1041735838 | 944 | L>R | No | Ensembl | |
|
RCV001767512 rs2035167264 |
947 | R>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1490747650 | 947 | R>H | No |
TOPMed gnomAD |
|
| rs1490747650 | 947 | R>L | No |
TOPMed gnomAD |
|
| rs1600986045 | 948 | V>G | No | Ensembl | |
| rs749286731 | 948 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs749286731 | 948 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 949 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1600986097 | 950 | E>G | No | Ensembl | |
| rs1479377825 | 951 | E>* | No | gnomAD | |
| rs1600986112 | 951 | E>G | No | Ensembl | |
| rs1600986120 | 952 | E>G | No | Ensembl | |
| rs1160285390 | 953 | E>G | No | gnomAD | |
| rs1247968157 | 953 | E>K | No |
TOPMed gnomAD |
|
| rs2035169453 | 954 | C>* | No | TOPMed | |
| rs1600986148 | 954 | C>G | No | Ensembl | |
|
RCV001002068 rs368160641 |
955 | S>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM440038 rs1317758717 COSM5221259 COSM440037 |
956 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
|
COSM999623 rs747892579 COSM999624 |
956 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1317758717 | 956 | R>S | No |
TOPMed gnomAD |
|
| rs1407003437 | 957 | Q>* | No | gnomAD | |
| rs1345345837 | 958 | M>I | No | gnomAD | |
| rs1304058473 | 958 | M>V | No | gnomAD | |
| rs1281831414 | 961 | E>K | No |
TOPMed gnomAD |
|
| rs769771304 | 962 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs773154429 | 963 | K>R | No |
ExAC gnomAD |
|
| rs1222777928 | 966 | Q>* | No | gnomAD | |
| rs1222777928 | 966 | Q>K | No | gnomAD | |
| rs2035171630 | 967 | Q>E | No | gnomAD | |
| rs2035171854 | 969 | I>M | No | TOPMed | |
| rs1449702960 | 969 | I>V | No |
TOPMed gnomAD |
|
| rs1183861000 | 970 | Q>E | No | gnomAD | |
| rs1600986339 | 970 | Q>R | No | Ensembl | |
| rs1338567405 | 974 | A>T | No | gnomAD | |
| rs1196648969 | 978 | A>T | No |
TOPMed gnomAD |
|
|
rs1175614654 COSM1494341 COSM1494340 |
978 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2035295875 | 979 | E>K | No | Ensembl | |
| rs2035295990 | 980 | E>Q | No | Ensembl | |
| rs749121002 | 981 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs770972513 | 982 | A>E | No |
ExAC TOPMed gnomAD |
|
|
rs770972513 COSM3743058 COSM3743059 COSM3743060 |
982 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs771550100 | 983 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs375273439 | 983 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs190283424 | 984 | Q>R | No |
1000Genomes gnomAD |
|
| rs1470596565 | 990 | K>* | No | gnomAD | |
| rs1470596565 | 990 | K>E | No | gnomAD | |
| rs373544204 | 990 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs900642796 | 991 | V>L | No |
TOPMed gnomAD |
|
| rs900642796 | 991 | V>M | No |
TOPMed gnomAD |
|
| rs201746408 | 992 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2035298374 | 993 | T>K | No | TOPMed | |
| rs1325611682 | 993 | T>S | No | gnomAD | |
| rs1239403742 | 994 | E>V | No | TOPMed | |
|
COSM1395413 COSM5158744 COSM1395414 |
997 | M>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2035299082 | 997 | M>T | No |
TOPMed gnomAD |
|
| rs1284985998 | 997 | M>V | No | gnomAD | |
| rs1324117250 | 998 | K>E | No |
TOPMed gnomAD |
|
| rs1324117250 | 998 | K>Q | No |
TOPMed gnomAD |
|
| rs780403309 | 998 | K>R | No |
TOPMed gnomAD |
|
| rs1206751875 | 1000 | F>L | No | TOPMed | |
| rs763346561 | 1000 | F>S | No |
ExAC gnomAD |
|
| rs763346561 | 1000 | F>Y | No |
ExAC gnomAD |
|
| rs1255484004 | 1003 | D>N | No | gnomAD | |
| rs1481045241 | 1009 | D>E | No | gnomAD | |
|
RCV002186086 rs550238145 |
1009 | D>G | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs781266105 | 1009 | D>N | No |
ExAC gnomAD |
|
| rs2035300923 | 1010 | Q>E | No | Ensembl | |
| rs756358860 | 1012 | S>A | No |
ExAC gnomAD |
|
| rs376122788 | 1013 | K>M | No | gnomAD | |
| rs2123389613 | 1016 | K>N | No | Ensembl | |
|
rs780006064 RCV001752230 |
1018 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1221236370 | 1018 | R>W | No | gnomAD | |
| rs746515064 | 1019 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 1019 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768214623 | 1020 | L>V | No |
ExAC gnomAD |
|
|
rs747770727 COSM3537123 COSM3537122 COSM3537121 |
1024 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs769362736 RCV001758427 |
1024 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs769362736 | 1024 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2035314423 | 1025 | L>P | No | Ensembl | |
| rs901225139 | 1026 | A>S | No | Ensembl | |
| rs1422892089 | 1027 | E>K | No | gnomAD | |
| rs560420710 | 1030 | S>P | No |
1000Genomes ExAC gnomAD |
|
| rs768039865 | 1033 | A>D | No |
ExAC gnomAD |
|
| rs768039865 | 1033 | A>V | No |
ExAC gnomAD |
|
| rs761274664 | 1035 | E>K | No |
ExAC gnomAD |
|
| rs1444602381 | 1038 | K>E | No | gnomAD | |
|
RCV001598567 rs370658125 |
1038 | K>N | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs753999335 | 1039 | V>A | No |
ExAC gnomAD |
|
| rs2035316271 | 1039 | V>F | No | gnomAD | |
| rs1227967002 | 1040 | K>R | No | gnomAD | |
| rs375259445 | 1042 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs765425658 | 1043 | N>S | No |
ExAC gnomAD |
|
|
COSM713325 COSM713326 |
1044 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370923801 | 1046 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs779951255 | 1047 | L>F | No |
ExAC TOPMed gnomAD |
|
|
rs779951255 RCV001754581 |
1047 | L>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1005987827 | 1048 | K>R | No | Ensembl | |
| rs2123391021 | 1049 | Y>H | No | Ensembl | |
| TCGA novel | 1050 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1204950002 | 1051 | A>V | No | gnomAD | |
| rs969722520 | 1053 | I>V | No | gnomAD | |
|
RCV001565933 rs754916277 |
1054 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs780640622 | 1054 | A>V | No |
ExAC gnomAD |
|
| rs1428939676 | 1055 | D>N | No | gnomAD | |
| rs1470924834 | 1056 | M>I | No | gnomAD | |
| rs769468635 | 1056 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs747635297 | 1056 | M>V | No |
ExAC gnomAD |
|
| rs868356323 | 1058 | D>E | No | Ensembl | |
| rs1600994287 | 1058 | D>Y | No | Ensembl | |
| rs1158319494 | 1059 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs374956489 | 1059 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs374956489 | 1059 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1426900049 | 1060 | L>P | No | gnomAD | |
| rs367703354 | 1061 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1377071180 | 1062 | K>N | No | gnomAD | |
| rs1283494849 | 1063 | E>G | No | gnomAD | |
| rs1238946816 | 1063 | E>K | No | gnomAD | |
| rs2035346876 | 1065 | K>N | No | gnomAD | |
| rs1288897916 | 1066 | G>A | No |
TOPMed gnomAD |
|
| rs1288897916 | 1066 | G>D | No |
TOPMed gnomAD |
|
|
rs769702697 CA309568174 RCV000606798 RCV001546775 |
1067 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs769702697 | 1067 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM999638 rs371750730 COSM999637 |
1067 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs371750730 | 1067 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs867257103 | 1068 | Q>* | No | gnomAD | |
| rs867257103 | 1068 | Q>E | No | gnomAD | |
| rs867257103 | 1068 | Q>K | No | gnomAD | |
|
rs766611254 RCV001823406 |
1071 | E>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1378647099 | 1073 | L>Q | No | gnomAD | |
| rs1164126855 | 1074 | K>R | No | gnomAD | |
|
RCV001915279 rs767489401 |
1075 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs759370085 | 1075 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1600995767 | 1078 | D>E | No | Ensembl | |
| rs752636745 | 1078 | D>G | No |
ExAC TOPMed gnomAD |
|
|
rs374915603 RCV000591898 CA9593202 |
1080 | E>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs777105092 | 1081 | S>G | No |
ExAC gnomAD |
|
| rs1384472666 | 1081 | S>N | No | gnomAD | |
| rs1245148335 | 1081 | S>R | No | gnomAD | |
| rs867324211 | 1083 | E>D | No | gnomAD | |
| rs753407817 | 1083 | E>Q | No |
ExAC gnomAD |
|
|
rs1197448518 RCV002033411 |
1086 | E>missing | No |
ClinVar dbSNP |
|
| rs1218737023 | 1087 | Q>* | No | TOPMed | |
| rs1218737023 | 1087 | Q>E | No | TOPMed | |
| rs1198022435 | 1088 | M>V | No |
TOPMed gnomAD |
|
| rs1236437073 | 1089 | V>L | No | gnomAD | |
| rs1444341586 | 1091 | Q>* | No | gnomAD | |
| rs11672655 | 1092 | Q>H | No | Ensembl | |
| rs922825978 | 1092 | Q>R | No | Ensembl | |
|
rs934260773 RCV000731196 |
1093 | Q>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs369620344 | 1094 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs778744283 | 1094 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs755451657 | 1096 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs781629074 | 1097 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs2035352269 | 1097 | E>K | No | TOPMed | |
| rs1465576528 | 1098 | L>M | No | gnomAD | |
| rs1396226848 | 1099 | R>Q | No |
TOPMed gnomAD |
|
|
rs748538744 RCV001910660 |
1099 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs867607264 | 1100 | A>D | No | gnomAD | |
| rs1333136314 | 1100 | A>T | No | gnomAD | |
| rs867607264 | 1100 | A>V | No | gnomAD | |
| rs773117828 | 1104 | R>G | No |
ExAC TOPMed gnomAD |
|
|
CA9593212 rs773117828 RCV000507267 |
1104 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1393112947 | 1106 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2035354716 | 1108 | E>K | No | Ensembl | |
| rs1164084244 | 1110 | Q>* | No | Ensembl | |
| rs771114040 | 1111 | A>V | No |
ExAC gnomAD |
|
| rs774626932 | 1112 | A>G | No |
ExAC gnomAD |
|
| rs774626932 | 1112 | A>V | No |
ExAC gnomAD |
|
| rs1600996146 | 1113 | L>P | No | Ensembl | |
| rs1568525381 | 1114 | A>T | No | Ensembl | |
| rs1214829607 | 1116 | A>V | No | gnomAD | |
| rs1394449118 | 1117 | E>A | No |
TOPMed gnomAD |
|
| rs541345064 | 1118 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM272012 COSM4285627 COSM272013 rs775122875 |
1119 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1264627522 | 1120 | G>D | No | gnomAD | |
|
COSM6085728 COSM6085729 COSM6085727 |
1121 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1178749083 | 1122 | A>S | No | gnomAD | |
| rs760554160 | 1123 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs984856121 | 1123 | R>W | No |
TOPMed gnomAD |
|
| rs1350323795 | 1124 | A>P | No | gnomAD | |
| rs1402409014 | 1127 | L>R | No | gnomAD | |
| rs377517917 | 1131 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs377517917 | 1131 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs377517917 | 1131 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1244943289 | 1133 | A>S | No | TOPMed | |
| rs2035493761 | 1133 | A>V | No | gnomAD | |
|
rs2123405169 RCV001984211 |
1135 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs2035493880 | 1136 | A>D | No | Ensembl | |
|
COSM999639 COSM999640 |
1138 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756571861 | 1139 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756571861 | 1139 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs778243816 | 1140 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM3537129 COSM3537127 COSM3537128 |
1140 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754288126 | 1142 | E>G | No |
ExAC gnomAD |
|
| rs778912179 | 1144 | L>R | No |
ExAC gnomAD |
|
| rs745994904 | 1145 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs200299854 | 1147 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001795505 rs200299854 |
1147 | E>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs374305829 | 1148 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1162456665 | 1148 | R>H | No |
TOPMed gnomAD |
|
| rs1162456665 | 1148 | R>L | No |
TOPMed gnomAD |
|
| rs768440239 | 1149 | V>A | No |
ExAC gnomAD |
|
| COSM117225 | 1149 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746766667 | 1149 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs776570317 CA9593257 RCV000608598 |
1150 | A>S | No |
ClinGen ClinVar ExAC dbSNP |
|
| rs761801771 | 1152 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs761801771 | 1152 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs772826690 | 1153 | K>E | No |
ExAC gnomAD |
|
| rs762566788 | 1153 | K>M | No |
ExAC gnomAD |
|
| rs910420638 | 1154 | A>E | No |
TOPMed gnomAD |
|
|
rs910420638 VAR_066339 |
1154 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs934601408 RCV001297476 |
1155 | E>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1315584521 | 1157 | Q>E | No |
TOPMed gnomAD |
|
| rs755161446 | 1157 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs764380281 | 1158 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs764380281 | 1158 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001310429 rs573195811 |
1159 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1053478443 | 1159 | R>W | No |
TOPMed gnomAD |
|
| rs1478098549 | 1160 | D>N | No | gnomAD | |
| rs2035498928 | 1162 | G>S | No | gnomAD | |
| rs750462020 | 1163 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2035499416 | 1164 | E>V | No | Ensembl | |
| TCGA novel | 1170 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748451285 | 1171 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1456666363 | 1171 | E>K | No | TOPMed | |
| rs889544707 | 1172 | L>P | No | Ensembl | |
| rs371254530 | 1173 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs748005945 | 1175 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1467744203 | 1176 | L>R | No | gnomAD | |
|
RCV001770913 rs2123405772 |
1176 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs773351168 | 1177 | D>A | No | ExAC | |
| rs1322523063 | 1178 | S>A | No | gnomAD | |
|
RCV001723481 rs1278715947 |
1179 | T>I | No |
ClinVar dbSNP gnomAD |
|
| rs896847980 | 1181 | A>T | No |
TOPMed gnomAD |
|
| rs1488517077 | 1185 | L>F | No | gnomAD | |
| rs1478977152 | 1186 | R>Q | No | gnomAD | |
| rs1260873967 | 1186 | R>W | No | gnomAD | |
| rs770809669 | 1189 | R>G | No |
ExAC gnomAD |
|
| rs2035522865 | 1189 | R>K | No | TOPMed | |
| TCGA novel | 1192 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1358265674 | 1192 | E>Q | No | gnomAD | |
| rs530881580 | 1193 | V>M | No | Ensembl | |
| rs200988515 | 1194 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM999643 COSM999644 |
1195 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760330757 | 1195 | E>K | No |
ExAC gnomAD |
|
| rs2035523929 | 1199 | T>S | No | TOPMed | |
| rs2035524146 | 1202 | E>K | No | Ensembl | |
| TCGA novel | 1203 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs553239370 | 1204 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs553239370 | 1204 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs553239370 | 1204 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1277975602 | 1205 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM1395416 rs368918699 COSM1395415 COSM5167307 |
1205 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs368918699 | 1205 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1362389812 | 1206 | I>F | No | gnomAD | |
| rs866930713 | 1207 | H>Y | No | Ensembl | |
| rs373336821 | 1208 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs377341421 | 1209 | A>T | No |
ESP ExAC TOPMed |
|
| rs11669191 | 1209 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1172189478 | 1210 | A>S | No | gnomAD | |
| rs1172189478 | 1210 | A>T | No | gnomAD | |
| rs1415689650 | 1212 | Q>R | No |
TOPMed gnomAD |
|
| rs757184384 | 1213 | E>D | No |
ExAC gnomAD |
|
| rs2035526017 | 1213 | E>K | No | Ensembl | |
| rs779503622 | 1216 | Q>P | No | ExAC | |
| rs771510184 | 1217 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs371116668 | 1218 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs200272339 | 1219 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1260048096 | 1220 | Q>R | No | gnomAD | |
| rs1470606623 | 1221 | A>D | No | Ensembl | |
| rs906010252 | 1221 | A>T | No | Ensembl | |
| rs1601005152 | 1222 | L>R | No | Ensembl | |
| rs2123408102 | 1223 | G>E | No | Ensembl | |
| rs2035527912 | 1223 | G>R | No | Ensembl | |
| rs2035528100 | 1224 | E>Q | No | Ensembl | |
| rs1601005203 | 1225 | L>R | No | Ensembl | |
|
RCV001785971 rs376485732 |
1226 | A>S | No |
ClinVar ESP ExAC dbSNP gnomAD |
|
| rs760135464 | 1226 | A>V | No |
ExAC gnomAD |
|
| rs1601005284 | 1229 | L>R | No | Ensembl | |
| rs1423688753 | 1233 | R>W | No | gnomAD | |
| rs1269757715 | 1234 | R>G | No | Ensembl | |
| rs1269757715 | 1234 | R>W | No | Ensembl | |
| rs750239450 | 1237 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2035574085 | 1239 | W>* | No | TOPMed | |
| rs780006414 | 1239 | W>R | No |
ExAC gnomAD |
|
| rs751064858 | 1240 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs754505777 | 1242 | T>I | No |
ExAC gnomAD |
|
| rs754505777 | 1242 | T>N | No |
ExAC gnomAD |
|
| rs1451515281 | 1243 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
RCV001767903 rs747690351 |
1245 | A>V | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs779373908 | 1247 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1555773701 RCV000521277 CA406956377 |
1247 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs746287096 | 1248 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs746287096 | 1248 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1601008149 | 1250 | V>G | No | Ensembl | |
| rs202242879 | 1250 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs554316153 | 1252 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1237370119 | 1252 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1237370119 | 1252 | E>Q | No |
TOPMed gnomAD |
|
| rs1212450527 | 1253 | L>P | No |
TOPMed gnomAD |
|
| rs1212450527 | 1253 | L>R | No |
TOPMed gnomAD |
|
|
RCV001375292 RCV002550214 rs776801210 |
1253 | L>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1306195687 | 1256 | E>Q | No | TOPMed | |
| rs762802800 | 1257 | L>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1259 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766290176 | 1259 | S>R | No |
ExAC gnomAD |
|
| rs868194743 | 1261 | Q>K | No | Ensembl | |
| rs752277389 | 1262 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1449234122 | 1263 | A>P | No | gnomAD | |
| rs1449234122 | 1263 | A>T | No | gnomAD | |
|
RCV000216576 rs876657873 CA10577108 |
1264 | R>H | No |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
| rs746217484 | 1266 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs777612824 | 1266 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1336100675 | 1268 | E>D | No |
TOPMed gnomAD |
|
| rs1315275874 | 1268 | E>K | No |
TOPMed gnomAD |
|
| rs747431212 | 1270 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs369976154 | 1270 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001988516 rs886854359 |
1272 | R>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs886854359 | 1272 | R>G | No |
TOPMed gnomAD |
|
| rs572780596 | 1272 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs776550700 RCV000275156 CA9593377 |
1273 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM5707137 rs375213477 COSM5707135 COSM5707136 |
1273 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs375213477 | 1273 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776550700 | 1273 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1568531370 | 1275 | E>A | No | Ensembl | |
| rs1568531390 | 1277 | Q>* | No | Ensembl | |
| rs2035581071 | 1279 | Q>P | No | TOPMed | |
| rs1601008585 | 1281 | V>G | No | Ensembl | |
|
RCV001768780 rs372578959 |
1281 | V>L | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs1481320721 | 1282 | Q>H | No |
TOPMed gnomAD |
|
| rs774235490 | 1282 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs774235490 | 1282 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2035581819 | 1283 | G>A | No | Ensembl | |
|
rs201181045 RCV001375393 RCV001762660 |
1284 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1206899900 | 1285 | A>T | No | gnomAD | |
| rs1323506055 | 1286 | G>S | No | Ensembl | |
| rs558592237 | 1287 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs1304957268 | 1287 | D>V | No |
TOPMed gnomAD |
|
| rs1233074390 | 1288 | G>V | No |
TOPMed gnomAD |
|
| rs1324467120 | 1289 | E>K | No |
TOPMed gnomAD |
|
| rs1601008738 | 1290 | R>S | No | Ensembl | |
| rs1175001727 | 1291 | A>V | No | gnomAD | |
| rs577038007 | 1292 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs577038007 | 1292 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs372963420 | 1292 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs905008650 | 1293 | A>T | No | gnomAD | |
| rs377146023 | 1293 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1294 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1295 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1029262796 | 1295 | A>T | No | TOPMed | |
| TCGA novel | 1295 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1035159757 | 1296 | A>T | No | Ensembl | |
| rs1211855386 | 1297 | E>Q | No | gnomAD | |
| rs1256350330 | 1298 | K>R | No |
TOPMed gnomAD |
|
| rs747448760 | 1299 | L>V | No |
ExAC gnomAD |
|
| rs781755990 | 1300 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs748162920 | 1301 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs1418978881 | 1301 | R>Q | No | gnomAD | |
| rs374058410 | 1302 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs777836010 | 1302 | A>T | No |
ExAC gnomAD |
|
| rs2035585475 | 1303 | Q>L | No | Ensembl | |
| rs148054042 | 1304 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148054042 RCV000515117 CA9593412 |
1304 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3835434 COSM3835433 COSM3835435 |
1305 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753182677 | 1305 | E>V | No |
ExAC gnomAD |
|
| rs1324636535 | 1307 | E>D | No | TOPMed | |
| rs756646436 | 1307 | E>K | No |
ExAC gnomAD |
|
| rs780350310 | 1307 | E>V | No | Ensembl | |
| rs1177859035 | 1312 | A>T | No |
TOPMed gnomAD |
|
|
rs561525083 RCV001547061 |
1312 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs771828482 | 1314 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs368076867 | 1315 | E>K | No |
ESP ExAC gnomAD |
|
| rs1178548564 | 1316 | A>G | No | TOPMed | |
| rs1407633430 | 1316 | A>S | No | gnomAD | |
| rs1407633430 | 1316 | A>T | No | gnomAD | |
| rs1178548564 | 1316 | A>V | No | TOPMed | |
| rs1601012830 | 1317 | E>K | No | TOPMed | |
| rs1601012830 | 1317 | E>Q | No | TOPMed | |
| rs1165005893 | 1318 | S>C | No | gnomAD | |
| rs1165005893 | 1318 | S>Y | No | gnomAD | |
| rs768760301 | 1320 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs727504915 | 1322 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs375687883 | 1322 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1365844675 | 1323 | L>I | No | TOPMed | |
| rs1179660184 | 1324 | S>G | No |
TOPMed gnomAD |
|
| rs202225655 | 1324 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1381233299 | 1325 | K>E | No | gnomAD | |
| rs1211940119 | 1331 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs377215107 | 1331 | E>A | No |
ESP ExAC gnomAD |
|
| rs778295018 | 1331 | E>D | No |
ExAC gnomAD |
|
| rs1181523586 | 1332 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1333 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231595661 | 1333 | Q>H | No | gnomAD | |
| rs753913288 | 1334 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs753913288 | 1334 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs778859442 | 1336 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs991467766 | 1337 | A>T | No | Ensembl | |
| rs1306562622 | 1338 | Q>* | No | gnomAD | |
| rs2035659927 | 1338 | Q>R | No | Ensembl | |
| rs2035665619 | 1340 | L>V | No | TOPMed | |
| rs2035666106 | 1342 | Q>E | No | Ensembl | |
|
rs1286640897 RCV002045490 |
1343 | E>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs727504965 | 1343 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1286640897 | 1343 | E>G | No |
TOPMed gnomAD |
|
| rs1244030966 | 1344 | E>D | No | TOPMed | |
| rs890379302 | 1346 | R>G | No | Ensembl | |
| rs1172781276 | 1346 | R>K | No | gnomAD | |
|
COSM4653194 COSM4653195 rs1009109899 COSM4653193 |
1347 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2035667406 | 1348 | K>E | No | gnomAD | |
| rs1159026652 | 1348 | K>R | No |
TOPMed gnomAD |
|
|
RCV001507449 rs961571645 |
1350 | A>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2035667985 | 1350 | A>T | No | Ensembl | |
| rs1384205814 | 1351 | L>M | No |
TOPMed gnomAD |
|
| rs748796382 | 1352 | G>R | No |
ExAC gnomAD |
|
| TCGA novel | 1353 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1360684765 | 1354 | R>Q | No | TOPMed | |
| rs994572245 | 1354 | R>W | No |
TOPMed gnomAD |
|
| rs1316330831 | 1355 | V>L | No | gnomAD | |
| rs1316330831 | 1355 | V>M | No | gnomAD | |
| rs765419578 | 1356 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1027435977 | 1357 | A>T | No | Ensembl | |
| rs1367043556 | 1357 | A>V | No | TOPMed | |
| rs2035669458 | 1358 | M>T | No |
TOPMed gnomAD |
|
| rs1167353147 | 1359 | E>D | No | TOPMed | |
| rs1441998308 | 1360 | A>D | No |
TOPMed gnomAD |
|
| rs1441998308 | 1360 | A>V | No |
TOPMed gnomAD |
|
| rs1346222278 | 1361 | E>D | No |
TOPMed gnomAD |
|
| rs1601013962 | 1363 | A>G | No | Ensembl | |
| rs2035670202 | 1363 | A>T | No | TOPMed | |
| rs1350611784 | 1364 | G>E | No | gnomAD | |
| rs1261762088 | 1364 | G>R | No |
TOPMed gnomAD |
|
| rs1261762088 | 1364 | G>W | No |
TOPMed gnomAD |
|
| rs553162373 | 1366 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1367 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2035671548 | 1370 | E>Q | No | TOPMed | |
| rs1192675912 | 1371 | E>G | No |
TOPMed gnomAD |
|
| rs1216339032 | 1373 | A>T | No | gnomAD | |
| rs1222048644 | 1373 | A>V | No | TOPMed | |
| rs777014973 | 1375 | A>T | No |
ExAC gnomAD |
|
| rs759326942 | 1377 | E>* | No | gnomAD | |
| rs759326942 | 1377 | E>Q | No | gnomAD | |
| rs1363099510 | 1378 | R>Q | No |
TOPMed gnomAD |
|
|
CA176902 RCV000884155 RCV000151193 rs115019972 |
1378 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs376285667 | 1379 | A>T | No |
TOPMed gnomAD |
|
| rs1300026540 | 1380 | G>C | No |
TOPMed gnomAD |
|
| rs188682445 | 1381 | R>H | No |
1000Genomes ExAC gnomAD |
|
| rs727503226 | 1381 | R>S | No |
TOPMed gnomAD |
|
| rs373111871 | 1386 | A>S | No |
ESP ExAC gnomAD |
|
| rs1308239023 | 1386 | A>V | No | gnomAD | |
| rs1237580306 | 1387 | Q>H | No |
TOPMed gnomAD |
|
| rs2123420203 | 1388 | A>V | No | Ensembl | |
| rs2123420218 | 1389 | Q>H | No | Ensembl | |
| rs2035674909 | 1389 | Q>R | No | Ensembl | |
|
RCV001731442 RCV000217000 rs771755654 CA9593478 |
1392 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs776961595 | 1394 | R>Q | No |
ExAC gnomAD |
|
|
COSM4993920 COSM4993921 COSM4993922 rs1052563735 |
1394 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs773527189 CA9593482 RCV000507375 RCV003766881 |
1395 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs763530993 | 1396 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs766518836 | 1396 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1373772307 | 1397 | Q>K | No |
TOPMed gnomAD |
|
| rs751720737 | 1398 | E>K | No |
ExAC gnomAD |
|
| rs892643955 | 1399 | E>G | No | Ensembl | |
| rs759800705 | 1400 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs759800705 | 1400 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1254576629 | 1401 | A>V | No |
TOPMed gnomAD |
|
| rs553740587 | 1402 | G>A | No | Ensembl | |
| rs1214664538 | 1403 | A>S | No |
TOPMed gnomAD |
|
| rs1214664538 | 1403 | A>T | No |
TOPMed gnomAD |
|
| rs2035724005 | 1404 | L>R | No | Ensembl | |
| rs752522504 | 1405 | E>K | No |
ExAC gnomAD |
|
| rs2035724470 | 1406 | A>S | No |
TOPMed gnomAD |
|
| rs1236208195 | 1406 | A>V | No |
TOPMed gnomAD |
|
| rs1485288941 | 1410 | A>T | No | gnomAD | |
| rs755926130 | 1410 | A>V | No |
ExAC gnomAD |
|
| rs1486866936 | 1411 | R>Q | No |
TOPMed gnomAD |
|
|
rs777626365 RCV001752616 |
1411 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1216167 COSM1216168 rs753656288 |
1412 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1261231302 | 1412 | R>H | No |
TOPMed gnomAD |
|
| rs553036261 | 1413 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1447952322 | 1413 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs778366633 | 1414 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2035726157 | 1415 | A>V | No | TOPMed | |
|
COSM4080328 rs727503224 CA176904 COSM4080330 RCV001850058 RCV000151194 COSM4080329 |
1416 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1434618100 | 1416 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs771702375 | 1417 | E>D | No |
ExAC gnomAD |
|
| TCGA novel | 1418 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3537139 COSM3537141 COSM3537140 |
1418 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001774131 rs746679895 |
1419 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs746679895 | 1419 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1224310163 | 1423 | Q>* | No | gnomAD | |
| rs1362579489 | 1423 | Q>R | No | gnomAD | |
|
RCV001354686 CA185599 RCV000156799 rs727505272 |
1424 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1303854176 COSM4285660 COSM2754265 COSM2754266 |
1424 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1303854176 | 1424 | R>L | No |
TOPMed gnomAD |
|
|
rs1346824550 RCV001774562 |
1427 | E>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs577687106 | 1429 | T>R | No |
1000Genomes ExAC gnomAD |
|
| rs1216575438 | 1431 | T>A | No |
TOPMed gnomAD |
|
| rs1195785912 | 1433 | D>G | No | gnomAD | |
| rs2035728679 | 1433 | D>N | No | Ensembl | |
| rs1195785912 | 1433 | D>V | No | gnomAD | |
| rs752792064 | 1434 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs767845100 | 1434 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2123423934 | 1436 | E>D | No | 1000Genomes | |
| rs201541117 | 1436 | E>G | No |
ExAC gnomAD |
|
| rs201541117 | 1436 | E>V | No |
ExAC gnomAD |
|
| rs199551130 | 1437 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs757168957 RCV000825963 |
1437 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs199551130 RCV001570020 |
1437 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1385873176 | 1438 | G>S | No | gnomAD | |
| rs1283055483 | 1438 | G>V | No |
TOPMed gnomAD |
|
|
RCV001772514 rs867601827 |
1439 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs867601827 | 1439 | R>G | No |
TOPMed gnomAD |
|
|
RCV003320577 rs727503227 RCV000151198 CA176912 |
1440 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs757839485 | 1440 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs746594902 RCV000360168 CA9593511 |
1441 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001774132 rs779630814 |
1441 | R>W | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs777968101 | 1446 | L>V | No |
ExAC gnomAD |
|
| rs1601017317 | 1447 | D>G | No | Ensembl | |
|
rs1407925871 COSM999648 COSM999647 |
1448 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs771985087 | 1449 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1451 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2035732799 | 1451 | M>T | No | Ensembl | |
| rs868660636 | 1451 | M>V | No |
TOPMed gnomAD |
|
| rs775658164 | 1452 | D>N | No |
ExAC gnomAD |
|
|
COSM3835437 COSM3835438 COSM3835436 |
1453 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776280390 COSM265823 |
1457 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs764430467 | 1457 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1366523124 | 1458 | Q>H | No | gnomAD | |
| rs2035733541 | 1460 | V>A | No | Ensembl | |
| rs761667274 | 1460 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2035734086 | 1466 | K>M | No | TOPMed | |
| rs2035734086 | 1466 | K>T | No | TOPMed | |
| rs2035734328 | 1467 | Q>* | No | gnomAD | |
| rs750304944 | 1467 | Q>H | No |
ExAC gnomAD |
|
| rs758354733 | 1468 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM4080331 rs760481743 COSM4080332 |
1468 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs760481743 | 1468 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs758354733 | 1468 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs542808369 | 1469 | K>E | No |
1000Genomes ExAC gnomAD |
|
| rs754564991 | 1469 | K>R | No |
ExAC gnomAD |
|
| rs1294041584 | 1470 | F>S | No | gnomAD | |
| rs1601017589 | 1470 | F>V | No | Ensembl | |
| rs1043939259 | 1471 | D>N | No | TOPMed | |
| rs1446935590 | 1472 | Q>* | No | TOPMed | |
| rs1468423828 | 1473 | L>F | No |
TOPMed gnomAD |
|
| rs1340339207 | 1477 | E>D | No | gnomAD | |
| rs759150031 | 1479 | A>S | No |
ExAC gnomAD |
|
| rs766939918 | 1479 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2035892062 | 1480 | A>T | No | TOPMed | |
| rs2035892154 | 1480 | A>V | No | Ensembl | |
|
rs375563286 RCV001563029 |
1481 | V>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs375563286 | 1481 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs755850782 | 1483 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM999649 COSM4285665 rs1212286161 |
1483 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs779375890 | 1484 | A>S | No |
ExAC gnomAD |
|
| rs779375890 | 1484 | A>T | No |
ExAC gnomAD |
|
| rs1460443287 | 1484 | A>V | No | TOPMed | |
| rs199870013 | 1485 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs199870013 | 1485 | V>E | No |
1000Genomes ExAC gnomAD |
|
| rs2035892893 | 1485 | V>L | No | Ensembl | |
| rs2035892893 | 1485 | V>M | No | Ensembl | |
| rs2035893321 | 1486 | E>K | No | gnomAD | |
|
RCV000155168 CA182291 rs185232438 RCV000973607 |
1488 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2123437282 | 1489 | E>G | No | Ensembl | |
| rs768724541 | 1490 | R>P | No |
ExAC gnomAD |
|
| rs768724541 | 1490 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs747478251 | 1490 | R>W | No |
ExAC TOPMed gnomAD |
|
|
RCV001806270 rs1171891709 |
1491 | A>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2035894234 | 1491 | A>V | No | TOPMed | |
| rs1394306209 | 1492 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1320436298 | 1493 | A>T | No |
TOPMed gnomAD |
|
| rs748329932 | 1493 | A>V | No |
ExAC gnomAD |
|
| rs2035894779 | 1495 | G>S | No | Ensembl | |
| rs558225564 | 1496 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs762863836 | 1497 | E>D | No |
ExAC TOPMed gnomAD |
|
|
RCV001000943 rs770767114 |
1498 | R>C | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs576482145 | 1498 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV003230715 rs576482145 RCV001941144 |
1498 | R>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1284422786 | 1500 | A>S | No |
TOPMed gnomAD |
|
| rs1284422786 | 1500 | A>T | No |
TOPMed gnomAD |
|
|
TCGA novel rs2035895620 |
1500 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs767084290 | 1501 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs767084290 | 1501 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs2123437565 RCV001767776 |
1502 | A>T | No |
ClinVar Ensembl dbSNP |
|
|
TCGA novel rs1601027394 |
1503 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs760368768 | 1504 | S>L | No |
ExAC gnomAD |
|
| COSM999650 | 1506 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001751979 rs893490164 |
1507 | R>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2035896927 | 1507 | R>Q | No | TOPMed | |
| rs893490164 | 1507 | R>W | No |
TOPMed gnomAD |
|
| rs1375846596 | 1509 | L>V | No | gnomAD | |
| rs1455344183 | 1510 | E>K | No | gnomAD | |
| rs1160343754 | 1511 | E>K | No |
TOPMed gnomAD |
|
|
COSM3537142 COSM3537143 |
1512 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750816569 | 1513 | Q>K | No |
ExAC gnomAD |
|
| rs2035897922 | 1514 | E>K | No | gnomAD | |
| rs1373473556 | 1515 | A>V | No | gnomAD | |
| rs780299880 | 1516 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs376288859 | 1516 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376288859 | 1516 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376288859 | 1516 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1004125844 | 1518 | E>V | No | Ensembl | |
|
rs781219181 RCV001964833 |
1521 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs374911327 RCV000604027 RCV002532724 CA9593574 |
1524 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2035899569 | 1525 | A>D | No | gnomAD | |
| rs770700108 | 1526 | L>P | No |
ExAC gnomAD |
|
|
COSM999651 rs150029590 |
1527 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1395417 COSM5141787 rs559910733 |
1527 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
|
RCV000151200 rs145522874 RCV000898608 CA176915 |
1528 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs760331863 | 1528 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs375451532 | 1529 | E>* | No |
ESP TOPMed |
|
|
rs776291919 RCV002033388 |
1531 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2035900881 | 1533 | L>P | No |
TOPMed gnomAD |
|
|
RCV001755123 rs2123438114 |
1534 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs1393534392 | 1536 | S>G | No | gnomAD | |
| rs766728732 | 1536 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1393534392 | 1536 | S>R | No | gnomAD | |
|
rs1601027737 RCV000996980 |
1537 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs1350430616 | 1537 | K>T | No | gnomAD | |
| rs2123438171 | 1539 | D>N | No | Ensembl | |
| rs1288163523 | 1539 | D>V | No | TOPMed | |
| rs2035901989 | 1540 | V>A | No | TOPMed | |
| rs373291384 | 1541 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs373291384 | 1541 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4910119 COSM4910120 |
1542 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1234050941 | 1542 | K>N | No | gnomAD | |
| rs2035902530 | 1543 | S>N | No | gnomAD | |
| rs1363625556 | 1545 | H>D | No | gnomAD | |
| rs1435411739 | 1545 | H>R | No |
TOPMed gnomAD |
|
| rs1601033180 | 1547 | L>R | No | Ensembl | |
| rs908295153 | 1548 | E>K | No | gnomAD | |
| rs908295153 | 1548 | E>Q | No | gnomAD | |
| rs1236257658 | 1549 | R>* | No |
TOPMed gnomAD |
|
| rs76509044 | 1549 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1209501417 | 1551 | C>Y | No | gnomAD | |
|
COSM3893109 COSM3893108 |
1552 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768754243 | 1552 | R>W | No |
ExAC gnomAD |
|
| rs2035994715 | 1554 | A>S | No | TOPMed | |
| rs2035994823 | 1555 | E>D | No | TOPMed | |
| rs1189403494 | 1556 | Q>E | No |
TOPMed gnomAD |
|
|
TCGA novel rs1467482944 |
1557 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1467482944 | 1557 | A>G | No |
TOPMed gnomAD |
|
| rs2035995240 | 1558 | A>V | No | Ensembl | |
| rs772671104 | 1559 | N>K | No |
ExAC TOPMed gnomAD |
|
|
VAR_022870 RCV002139316 rs769482601 |
1559 | N>S | No |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs1317655526 | 1562 | R>* | No |
TOPMed gnomAD |
|
|
RCV000265781 rs886043615 CA10605731 |
1562 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1229876725 | 1564 | Q>E | No |
TOPMed gnomAD |
|
| rs762607266 | 1564 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs376644018 | 1568 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1601033475 | 1570 | D>N | No | Ensembl | |
| rs933192684 | 1571 | E>K | No | TOPMed | |
| rs933192684 | 1571 | E>Q | No | TOPMed | |
| rs374550830 | 1572 | L>V | No |
ESP ExAC gnomAD |
|
| rs1326527962 | 1573 | T>R | No |
TOPMed gnomAD |
|
| rs1319422409 | 1574 | A>V | No | gnomAD | |
| rs1366781078 | 1577 | D>V | No |
TOPMed gnomAD |
|
| rs1439811976 | 1578 | A>G | No |
TOPMed gnomAD |
|
| rs2035997624 | 1578 | A>S | No |
TOPMed gnomAD |
|
| rs1217458452 | 1579 | K>R | No |
TOPMed gnomAD |
|
|
RCV001586167 rs1331282016 |
1581 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM4285668 COSM2754275 rs750628523 |
1581 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2123446313 | 1582 | L>V | No | Ensembl | |
| rs1267677766 | 1583 | E>K | No |
TOPMed gnomAD |
|
| rs1267677766 | 1583 | E>Q | No |
TOPMed gnomAD |
|
| rs1601033679 | 1584 | V>G | No | Ensembl | |
| rs371242797 | 1584 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371242797 | 1584 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1224227651 | 1585 | T>I | No |
TOPMed gnomAD |
|
| rs779965701 | 1586 | V>L | No |
ExAC gnomAD |
|
|
RCV000825962 rs754931173 |
1588 | A>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001976232 rs754931173 |
1588 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1271303266 RCV001507450 |
1589 | L>F | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs781058664 | 1590 | K>E | No |
ExAC gnomAD |
|
| TCGA novel | 1590 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748119055 | 1591 | T>I | No |
ExAC gnomAD |
|
| rs1042706180 | 1592 | Q>H | No |
TOPMed gnomAD |
|
| rs1340234478 | 1593 | H>Q | No |
TOPMed gnomAD |
|
| rs1056066716 | 1593 | H>R | No | gnomAD | |
| rs1323949595 | 1595 | R>C | No |
TOPMed gnomAD |
|
| rs1323949595 | 1595 | R>G | No |
TOPMed gnomAD |
|
| rs777365263 | 1595 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs2123446486 | 1598 | Q>K | No | Ensembl | |
| rs1337640349 | 1598 | Q>L | No | gnomAD | |
|
CA9593634 RCV000508557 rs748898201 |
1600 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001422929 COSM999652 rs373651452 |
1600 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs373651452 | 1600 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs373651452 | 1600 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs895283815 | 1601 | D>E | No | TOPMed | |
| rs761083014 | 1601 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1290886560 | 1602 | E>D | No |
TOPMed gnomAD |
|
| rs769198691 | 1602 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1451351698 | 1604 | G>S | No | gnomAD | |
| rs77026959 | 1605 | E>G | No | Ensembl | |
| rs1254578721 | 1605 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 1606 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA176917 RCV000893063 RCV000151201 rs727503228 |
1607 | R>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1249048707 | 1608 | R>G | No | gnomAD | |
|
RCV001288307 rs368076336 |
1608 | R>Q | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
|
RCV001928759 COSM3404476 rs1249048707 COSM3404475 |
1608 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
| rs1163440925 | 1609 | R>K | No |
TOPMed gnomAD |
|
| rs763245691 | 1609 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1403334258 | 1610 | Q>K | No | gnomAD | |
| rs754661247 | 1612 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1307471282 | 1614 | Q>R | No | gnomAD | |
| rs1277346756 | 1618 | A>V | No | gnomAD | |
| rs1440311953 | 1619 | E>D | No | gnomAD | |
| rs372896857 | 1620 | V>M | No |
ESP TOPMed gnomAD |
|
| rs1448578928 | 1621 | E>G | No | gnomAD | |
| rs773412410 | 1622 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs375795690 RCV001358747 |
1622 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM4550333 COSM4550332 |
1623 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036050989 | 1624 | E>K | No | gnomAD | |
|
RCV001981934 rs766573893 |
1626 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001997770 rs763195171 |
1626 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs971043922 | 1627 | K>E | No | TOPMed | |
| rs577504388 | 1628 | Q>* | No | 1000Genomes | |
|
COSM4929087 rs369826983 COSM4929088 |
1629 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759824498 COSM5106142 COSM1395418 |
1629 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs759824498 | 1629 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs1389680083 RCV001876675 |
1630 | T>A | No |
ClinVar dbSNP gnomAD |
|
| rs1389680083 | 1630 | T>P | No | gnomAD | |
| rs2036052419 | 1630 | T>S | No | Ensembl | |
| rs1295945493 | 1631 | L>P | No |
TOPMed gnomAD |
|
| rs755979248 | 1631 | L>V | No |
ExAC gnomAD |
|
| rs373329386 | 1632 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs373329386 | 1632 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1274795270 | 1633 | V>M | No | gnomAD | |
| rs377338128 | 1634 | A>G | No |
ESP TOPMed gnomAD |
|
| rs921406950 | 1635 | A>G | No | TOPMed | |
| rs921406950 | 1635 | A>V | No | TOPMed | |
| rs369214872 | 1636 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs377399732 | 1636 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
|
rs377399732 RCV002263186 |
1636 | R>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2036053938 | 1637 | K>T | No | TOPMed | |
| rs1210061187 | 1638 | K>Q | No | gnomAD | |
| rs986878046 | 1639 | L>V | No | TOPMed | |
|
RCV001269272 RCV001760315 rs1206556550 |
1640 | E>G | No |
ClinVar dbSNP gnomAD |
|
|
RCV001354493 rs2123450185 |
1642 | E>* | No |
ClinVar Ensembl dbSNP |
|
|
rs2123450202 RCV001354897 |
1642 | E>V | No |
ClinVar Ensembl dbSNP |
|
| rs932164623 | 1644 | E>G | No |
TOPMed gnomAD |
|
| rs1601037188 | 1645 | E>G | No | Ensembl | |
| rs1050519842 | 1645 | E>Q | No |
TOPMed gnomAD |
|
| rs2036055331 | 1649 | Q>* | No | Ensembl | |
| rs890568303 | 1650 | M>I | No |
TOPMed gnomAD |
|
| rs781392576 | 1650 | M>V | No |
ExAC gnomAD |
|
| rs1161540272 | 1654 | G>D | No | gnomAD | |
|
rs199915414 CA176921 RCV000901826 RCV000151203 |
1654 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs199915414 | 1654 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1412972604 | 1656 | G>S | No | gnomAD | |
| rs1456949233 | 1657 | K>R | No | gnomAD | |
| rs1387737211 | 1658 | E>D | No | gnomAD | |
| rs774603941 | 1658 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2036057330 | 1659 | E>A | No | Ensembl | |
| rs1474453503 | 1659 | E>K | No |
TOPMed gnomAD |
|
| rs759645377 | 1660 | A>E | No |
ExAC gnomAD |
|
| rs759645377 | 1660 | A>V | No |
ExAC gnomAD |
|
|
RCV002524664 RCV000415372 CA9593681 rs775130663 |
1661 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs764344864 COSM3893113 COSM3893112 |
1665 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1328024294 | 1665 | R>H | No |
TOPMed gnomAD |
|
| rs1226140898 | 1667 | M>R | No | gnomAD | |
| rs1266874827 | 1668 | Q>R | No | gnomAD | |
|
COSM3537146 COSM3537147 |
1669 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036101825 | 1671 | M>V | No | Ensembl | |
| rs776452962 | 1672 | K>E | No |
ExAC gnomAD |
|
| rs776452962 | 1672 | K>Q | No |
ExAC gnomAD |
|
| rs765221367 | 1676 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs765221367 RCV002260792 |
1676 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3537149 rs761720529 COSM3537148 |
1676 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs762458664 | 1677 | E>G | No |
ExAC gnomAD |
|
| rs937711984 | 1678 | V>G | No | Ensembl | |
| rs754708576 | 1679 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1395140413 | 1679 | E>A | No | gnomAD | |
| rs778251472 | 1682 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs200923933 RCV001402066 |
1682 | R>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs200923933 | 1682 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs745369087 | 1683 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1601040783 | 1683 | T>P | No | Ensembl | |
| rs368613423 | 1684 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs372062358 | 1685 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001752226 rs747204998 |
1685 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372062358 RCV000523328 CA9593715 |
1685 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2123453962 | 1686 | E>D | No | Ensembl | |
| TCGA novel | 1687 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036105006 | 1688 | I>N | No | Ensembl | |
| rs1387624378 | 1690 | S>F | No |
TOPMed gnomAD |
|
| rs1200049856 | 1691 | Q>E | No | gnomAD | |
| rs2036105553 | 1691 | Q>H | No | Ensembl | |
| rs971105004 | 1693 | R>Q | No |
TOPMed gnomAD |
|
| rs1241538651 | 1693 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1390099462 | 1694 | E>A | No |
TOPMed gnomAD |
|
|
rs776401666 RCV000613555 RCV001438535 CA9593718 |
1695 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2123454056 | 1697 | K>R | No | Ensembl | |
| rs761663501 | 1698 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs769481390 | 1698 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs769481390 | 1698 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV000281002 CA9593719 rs761663501 |
1698 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773145169 | 1699 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs773145169 | 1699 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs574422878 | 1701 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs574422878 | 1701 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs923591333 | 1703 | E>Q | No | TOPMed | |
| rs1359743494 | 1704 | A>S | No | gnomAD | |
| rs2036107529 | 1705 | E>A | No | Ensembl | |
| rs1220922200 | 1705 | E>D | No | gnomAD | |
| rs989406564 | 1706 | V>L | No | Ensembl | |
| rs767335711 | 1708 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1312780913 | 1708 | R>W | No |
TOPMed gnomAD |
|
| rs1209720381 | 1711 | E>G | No | gnomAD | |
| rs1405361228 | 1712 | E>K | No |
TOPMed gnomAD |
|
| rs1165303680 | 1713 | L>M | No | gnomAD | |
| rs1165303680 | 1713 | L>V | No | gnomAD | |
| rs769584790 | 1714 | A>T | No |
ExAC gnomAD |
|
| rs1422725013 | 1714 | A>V | No |
TOPMed gnomAD |
|
| rs749217022 | 1715 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs749217022 | 1715 | A>T | No |
ExAC TOPMed gnomAD |
|
|
rs770822041 RCV001508870 |
1716 | S>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2036147624 | 1717 | D>N | No | TOPMed | |
| rs759179564 | 1718 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs759179564 | 1718 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1291084442 | 1718 | R>H | No |
TOPMed gnomAD |
|
| rs759179564 | 1718 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs765607599 | 1720 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1483064181 | 1721 | R>Q | No |
TOPMed gnomAD |
|
| rs1473599667 | 1725 | Q>H | No |
TOPMed gnomAD |
|
| TCGA novel | 1727 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766866459 RCV000996982 |
1727 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1425037511 | 1728 | D>H | No | gnomAD | |
| rs373440705 | 1728 | D>V | No |
ESP TOPMed gnomAD |
|
| COSM713321 | 1729 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754994671 | 1730 | M>L | No |
ExAC gnomAD |
|
| rs1162636865 | 1731 | A>T | No |
TOPMed gnomAD |
|
| rs781272746 | 1731 | A>V | No |
ExAC gnomAD |
|
| rs748331828 | 1735 | A>S | No |
ExAC gnomAD |
|
| rs756329020 | 1736 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs756329020 | 1736 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2036150109 | 1737 | G>S | No | TOPMed | |
| rs1261335391 | 1739 | L>V | No |
TOPMed gnomAD |
|
| rs1248462699 | 1742 | A>E | No |
TOPMed gnomAD |
|
|
COSM1395419 COSM5159001 |
1742 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1446235759 | 1743 | A>D | No |
TOPMed gnomAD |
|
|
COSM4080334 COSM4080333 |
1743 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754090527 | 1746 | E>A | No |
ExAC gnomAD |
|
|
COSM3537150 COSM3537151 rs1479041065 |
1747 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM5678179 COSM713320 rs778870714 |
1749 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000220418 rs747480201 CA9593778 |
1749 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
COSM1395420 COSM5166403 rs373716045 |
1754 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2036162876 | 1755 | L>V | No | TOPMed | |
| rs1206166363 | 1756 | G>R | No | gnomAD | |
| rs1282131914 | 1757 | Q>* | No | gnomAD | |
| rs776089985 | 1757 | Q>R | No |
ExAC gnomAD |
|
| rs1601044716 | 1758 | L>V | No | Ensembl | |
| rs761549610 | 1759 | E>K | No |
ExAC gnomAD |
|
| rs774739491 | 1761 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM4833725 COSM4833726 |
1761 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768652460 | 1763 | E>A | No | Ensembl | |
| rs760011988 | 1763 | E>K | No |
ExAC gnomAD |
|
| rs760011988 | 1763 | E>Q | No |
ExAC gnomAD |
|
| COSM713319 | 1763 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768069260 | 1764 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1452151052 | 1766 | Q>E | No | gnomAD | |
| rs1255200792 | 1766 | Q>H | No | TOPMed | |
| rs752816993 | 1766 | Q>R | No | ExAC | |
| rs760604314 | 1767 | S>G | No |
ExAC gnomAD |
|
| rs764244284 | 1767 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs753957442 | 1768 | N>D | No |
ExAC gnomAD |
|
| rs778817687 | 1769 | S>L | No |
ExAC gnomAD |
|
| rs2036165342 | 1769 | S>P | No | Ensembl | |
| rs1227212776 | 1770 | E>G | No |
TOPMed gnomAD |
|
| rs2036166044 | 1772 | L>F | No | Ensembl | |
| rs2036166150 | 1773 | N>D | No | gnomAD | |
|
rs758406907 RCV002040214 |
1773 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs746980653 | 1774 | D>A | No |
ExAC gnomAD |
|
| rs746980653 | 1774 | D>G | No |
ExAC gnomAD |
|
| rs779789264 | 1774 | D>N | No |
ExAC gnomAD |
|
|
CA182297 RCV000155171 rs376798395 |
1775 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs376798395 | 1775 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs376798395 | 1775 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1601045013 | 1776 | Y>S | No | Ensembl | |
|
rs377096949 RCV000596399 CA9593800 |
1777 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs377096949 | 1777 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM999654 rs774682178 |
1777 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs774682178 | 1777 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs772427393 | 1780 | L>P | No |
ExAC gnomAD |
|
| rs1356815863 | 1782 | Q>P | No | gnomAD | |
| rs1356815863 | 1782 | Q>R | No | gnomAD | |
| rs1383894963 | 1783 | V>I | No | gnomAD | |
| rs773518788 | 1784 | E>Q | No |
ExAC gnomAD |
|
| rs2123478332 | 1785 | S>* | No | Ensembl | |
| rs1371955270 | 1787 | T>I | No | gnomAD | |
| rs1460027279 | 1789 | E>Q | No | gnomAD | |
| rs766059778 | 1791 | S>A | No |
ExAC gnomAD |
|
| rs1406432640 | 1792 | A>T | No | gnomAD | |
| rs2123478389 | 1792 | A>V | No | Ensembl | |
|
COSM4884927 COSM4884926 |
1793 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2123478402 | 1793 | E>V | No | Ensembl | |
|
rs751422907 COSM440039 COSM3764767 |
1794 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs754861302 RCV001763320 COSM4080335 COSM4080336 |
1794 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754861302 RCV002253124 |
1794 | R>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs751422907 | 1794 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2036485602 | 1795 | S>N | No | gnomAD | |
| rs2123478448 | 1796 | F>L | No | Ensembl | |
|
COSM3537152 COSM3537153 |
1797 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368219210 | 1798 | A>D | No |
ExAC TOPMed gnomAD |
|
|
rs1258635913 RCV002274684 |
1799 | K>N | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1294812112 | 1799 | K>R | No | gnomAD | |
| rs1306924645 | 1800 | A>S | No |
TOPMed gnomAD |
|
| rs1306924645 | 1800 | A>T | No |
TOPMed gnomAD |
|
| rs1225352711 | 1801 | E>D | No |
TOPMed gnomAD |
|
| rs2036486295 | 1801 | E>K | No | TOPMed | |
| rs367782658 | 1802 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs12610591 | 1802 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs932485163 | 1803 | G>E | No | gnomAD | |
|
rs375748088 CA9593838 RCV000611163 |
1803 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs201040702 | 1804 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV002065190 RCV000616038 rs199600574 CA9593839 |
1804 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1261653387 | 1805 | Q>* | No | gnomAD | |
| rs1426203113 | 1805 | Q>R | No | gnomAD | |
| rs2036487589 | 1806 | Q>* | No | TOPMed | |
| rs2036487681 | 1806 | Q>H | No | Ensembl | |
| rs780257287 | 1807 | L>V | No |
ExAC gnomAD |
|
| rs777220522 | 1809 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs777220522 RCV001799986 |
1809 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9593843 rs201474958 RCV001545878 RCV000600582 |
1809 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1287294159 | 1810 | Q>* | No |
TOPMed gnomAD |
|
| COSN158055 | 1810 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367960257 | 1812 | Q>P | No |
ExAC gnomAD |
|
| rs367960257 | 1812 | Q>R | No |
ExAC gnomAD |
|
| rs1402106275 | 1813 | E>* | No |
TOPMed gnomAD |
|
| rs763247736 | 1815 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs539875477 RCV001772960 |
1815 | R>W | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2123478745 | 1816 | G>A | No | Ensembl | |
| rs2123478740 | 1816 | G>R | No | Ensembl | |
| rs771245525 | 1817 | R>C | No |
ExAC TOPMed gnomAD |
|
|
RCV000215776 CA9593850 rs11882073 RCV000756389 |
1817 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs11882073 | 1817 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2123478793 | 1818 | L>V | No | Ensembl | |
| rs2123478809 | 1819 | G>D | No | Ensembl | |
| rs1568557007 | 1819 | G>S | No |
TOPMed gnomAD |
|
| rs767226105 | 1821 | E>K | No |
ExAC gnomAD |
|
| rs1261499769 | 1822 | D>Y | No |
TOPMed gnomAD |
|
| rs2123478850 | 1823 | A>G | No | Ensembl | |
|
TCGA novel rs2123478843 |
1823 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 1823 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2123478876 | 1824 | G>E | No | Ensembl | |
| rs752578213 | 1824 | G>R | No |
ExAC gnomAD |
|
| rs760637279 | 1825 | A>S | No |
ExAC gnomAD |
|
| rs187789045 | 1826 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs756845520 | 1826 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM5105844 COSM1395421 |
1826 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778563675 | 1827 | A>P | No |
ExAC gnomAD |
|
| rs778563675 | 1827 | A>T | No |
ExAC gnomAD |
|
| rs750057846 | 1828 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs773798800 | 1828 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs773798800 | 1828 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs781714533 RCV001883886 |
1830 | K>R | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs2123478974 | 1831 | M>I | No | Ensembl | |
| rs369501093 | 1831 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1401063215 | 1831 | M>R | No | gnomAD | |
| rs369501093 | 1831 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036491675 | 1832 | T>I | No | Ensembl | |
| rs2036491675 | 1832 | T>S | No | Ensembl | |
| rs770475855 | 1834 | A>T | No |
ExAC gnomAD |
|
| rs2123479003 | 1834 | A>V | No | Ensembl | |
| rs1459334407 | 1836 | L>F | No |
TOPMed gnomAD |
|
| rs1459334407 | 1836 | L>I | No |
TOPMed gnomAD |
|
| rs1459334407 | 1836 | L>V | No |
TOPMed gnomAD |
|
| rs2036492234 | 1837 | E>K | No | TOPMed | |
| TCGA novel | 1837 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000612997 CA9593865 rs200566974 |
1841 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2036492821 | 1844 | E>G | No | Ensembl | |
|
RCV002267275 rs770918120 |
1845 | E>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1745003710 | 1845 | E>K | No | Ensembl | |
| rs2036493055 | 1848 | E>Q | No | Ensembl | |
| rs1315532904 | 1851 | T>I | No | gnomAD | |
|
RCV000610726 rs200485394 CA9593880 RCV000905840 |
1854 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs371404005 | 1854 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1384496478 | 1855 | I>V | No | gnomAD | |
| rs1442752684 | 1856 | L>P | No | gnomAD | |
| rs1305483354 | 1856 | L>V | No | TOPMed | |
| rs1406158446 | 1858 | G>* | No | TOPMed | |
| rs1000307439 | 1861 | V>L | No |
TOPMed gnomAD |
|
|
RCV001375286 CA309596891 rs372637743 RCV000513126 |
1862 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs372637743 | 1862 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1032587217 | 1862 | R>H | No |
TOPMed gnomAD |
|
| rs1337849543 | 1863 | R>K | No |
TOPMed gnomAD |
|
| rs2036677860 | 1864 | A>T | No | Ensembl | |
| rs1382667804 | 1865 | E>G | No | gnomAD | |
| rs746552849 | 1865 | E>K | No | Ensembl | |
| rs749770228 | 1866 | K>T | No |
ExAC gnomAD |
|
| rs542294850 | 1867 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
|
rs1272434745 COSM5194250 COSM440041 |
1867 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1325289599 | 1870 | E>A | No |
TOPMed gnomAD |
|
| rs1204030202 | 1870 | E>D | No |
TOPMed gnomAD |
|
| rs1325289599 | 1870 | E>G | No |
TOPMed gnomAD |
|
| rs1242250524 | 1871 | V>L | No |
TOPMed gnomAD |
|
| rs996304341 | 1872 | V>L | No |
TOPMed gnomAD |
|
| rs866198645 | 1874 | Q>* | No | Ensembl | |
| rs902721100 | 1877 | E>D | No |
TOPMed gnomAD |
|
|
rs770990312 COSM1216171 |
1879 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
RCV002260815 rs999578108 |
1879 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs1601078089 | 1881 | V>G | No | Ensembl | |
| rs1421717890 | 1882 | A>T | No |
TOPMed gnomAD |
|
| rs1471106862 | 1883 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1224629985 | 1884 | Q>E | No | TOPMed | |
| rs1177450331 | 1885 | L>F | No | gnomAD | |
| rs954746761 | 1886 | R>Q | No |
TOPMed gnomAD |
|
| rs772329850 | 1886 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2123492378 | 1888 | Q>* | No | Ensembl | |
| rs2036748859 | 1889 | L>P | No | Ensembl | |
| rs2036748754 | 1889 | L>V | No | Ensembl | |
| rs2036748975 | 1890 | E>Q | No | TOPMed | |
| rs2036749096 | 1891 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1892 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1601081175 | 1893 | N>T | No | Ensembl | |
| TCGA novel | 1894 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758613792 | 1895 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780193307 | 1895 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs780193307 | 1895 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs747256346 | 1896 | V>A | No |
ExAC gnomAD |
|
| rs2036750264 | 1898 | Q>E | No |
TOPMed gnomAD |
|
| rs1601081244 | 1900 | K>R | No | Ensembl | |
| rs568453342 | 1901 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs930926600 COSM4080338 COSM4080337 |
1901 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1424743945 | 1903 | L>P | No | gnomAD | |
| rs1424743945 | 1903 | L>R | No | gnomAD | |
| rs769682127 | 1903 | L>V | No |
ExAC gnomAD |
|
| rs1601081300 | 1904 | E>G | No | Ensembl | |
|
TCGA novel rs375536249 |
1905 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP ExAC TOPMed gnomAD |
| rs375536249 | 1905 | E>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1601081346 | 1906 | A>G | No | Ensembl | |
| rs765998575 | 1907 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs774096368 | 1909 | E>Q | No |
ExAC gnomAD |
|
|
COSM3537156 COSM3537157 rs2036752502 |
1911 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs764485532 | 1912 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1045789246 | 1913 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
rs374948377 RCV001508871 |
1916 | G>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs750942360 | 1917 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1251535956 | 1917 | R>H | No |
TOPMed gnomAD |
|
| rs1251535956 | 1917 | R>L | No |
TOPMed gnomAD |
|
| rs750942360 | 1917 | R>S | No |
ExAC TOPMed gnomAD |
|
|
rs200878464 CA133512 RCV000416232 RCV000037053 |
1918 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM3537161 rs1158311105 COSM3537160 |
1919 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs755242426 | 1921 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1234756737 | 1922 | R>C | No |
TOPMed gnomAD |
|
| rs781030522 | 1922 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1053128589 | 1927 | V>D | No | Ensembl | |
| rs2036755053 | 1928 | T>I | No | TOPMed | |
| rs2036755248 | 1929 | E>G | No | gnomAD | |
| rs777517519 | 1930 | S>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002044070 rs1383282169 |
1932 | E>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs774041150 | 1933 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs774041150 | 1933 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs1310486872 | 1934 | M>V | No | gnomAD | |
| rs1283485955 | 1935 | N>S | No | gnomAD | |
| rs759237862 | 1936 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
RCV001969880 rs771678694 |
1936 | R>H | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs2036756669 | 1938 | V>L | No | Ensembl | |
| rs777049189 | 1939 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 1940 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1942 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1462070601 | 1944 | R>Q | No | gnomAD | |
|
RCV000519347 CA309597820 rs369147236 |
1944 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs727503230 RCV000151208 CA176929 |
1946 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| rs763491312 | 1946 | R>Q | No |
ExAC gnomAD |
|
|
COSM4080340 rs747594595 RCV001288308 COSM4080339 |
1947 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs376315069 RCV000757523 |
1947 | R>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1948 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1409838865 | 1948 | G>S | No |
TOPMed gnomAD |
|
| rs1419458227 | 1948 | G>V | No | gnomAD | |
| TCGA novel | 1949 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1601083081 | 1950 | L>H | No | Ensembl | |
| rs1601083081 | 1950 | L>P | No | Ensembl | |
| TCGA novel | 1950 | L>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1601083073 | 1950 | L>V | No | Ensembl | |
|
CA406965905 RCV000506880 rs1555779737 |
1951 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1555779737 | 1951 | T>N | No | Ensembl | |
| rs1601083091 | 1951 | T>P | No | Ensembl | |
| rs1601083116 | 1953 | T>P | No | Ensembl | |
| rs2036785111 | 1953 | T>S | No | Ensembl | |
| rs1378469031 | 1954 | T>A | No | gnomAD | |
| rs1378469031 | 1954 | T>P | No | gnomAD | |
| rs749591626 | 1955 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs369111539 | 1955 | R>L | No |
1000Genomes ESP ExAC gnomAD |
|
| rs201986144 | 1956 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201986144 | 1956 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs760791331 | 1957 | V>A | No |
ExAC gnomAD |
|
| rs1375906074 | 1958 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs764476849 | 1958 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs764476849 | 1958 | R>L | No |
ExAC TOPMed gnomAD |
|
|
RCV000825964 rs1375906074 |
1958 | R>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1473490643 | 1959 | Q>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1959 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1049766624 | 1960 | V>F | No |
TOPMed gnomAD |
|
| rs1049766624 | 1960 | V>I | No |
TOPMed gnomAD |
|
| rs1352206696 | 1961 | F>V | No | gnomAD | |
|
RCV001774149 rs1247510067 |
1962 | R>* | No |
ClinVar dbSNP gnomAD |
|
| rs754115880 | 1962 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs765145417 RCV002012792 |
1964 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs765145417 | 1964 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1234270327 | 1966 | G>S | No | gnomAD | |
| rs943946426 | 1967 | V>M | No |
TOPMed gnomAD |
|
| rs2036789029 | 1968 | A>G | No | Ensembl | |
| rs1236260947 | 1968 | A>T | No | gnomAD | |
| rs1219162141 | 1969 | S>P | No |
1000Genomes gnomAD |
|
|
rs200291489 RCV002095122 |
1970 | D>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs754454549 | 1970 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754454549 | 1970 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
rs541534428 COSM999656 |
1971 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA309598171 rs867351302 RCV000598630 |
1972 | E>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1443350607 | 1974 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2036790256 | 1974 | E>Q | No |
TOPMed gnomAD |
|
| rs1280035528 | 1976 | A>G | No |
TOPMed gnomAD |
|
| rs1280035528 | 1976 | A>V | No |
TOPMed gnomAD |
|
|
COSM5129569 COSM1395423 |
1978 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1018204608 | 1979 | G>E | No |
TOPMed gnomAD |
|
|
RCV000825043 rs1006372999 |
1979 | G>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1337213084 | 1981 | G>E | No |
TOPMed gnomAD |
|
| rs774733507 | 1981 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs774733507 | 1981 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs746333658 | 1982 | P>L | No |
ExAC gnomAD |
|
| rs1226177874 | 1982 | P>S | No | gnomAD | |
| rs1226177874 | 1982 | P>T | No | gnomAD | |
|
rs1307762363 RCV002000889 |
1983 | S>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1307762363 COSM5592001 COSM5592002 |
1983 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
|
RCV000757522 rs772690371 |
1984 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs772690371 | 1984 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs764280717 | 1985 | E>D | No |
ExAC gnomAD |
|
| rs760739256 | 1985 | E>Q | No |
ExAC gnomAD |
|
| rs776944281 | 1987 | E>D | No |
ExAC gnomAD |
|
| rs2036793039 | 1987 | E>K | No |
TOPMed gnomAD |
|
| rs1268691507 | 1988 | G>R | No |
TOPMed gnomAD |
|
|
RCV001572809 rs2123499744 |
1989 | S>missing | No |
ClinVar dbSNP |
|
| rs1011828838 | 1989 | S>C | No | Ensembl | |
|
rs727503231 CA176933 RCV000151210 RCV000658851 |
1989 | S>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1011828838 | 1989 | S>Y | No | Ensembl | |
| rs1421891507 | 1990 | P>S | No |
TOPMed gnomAD |
|
|
rs2036794277 RCV001572947 |
1992 | A>missing | No |
ClinVar dbSNP |
|
| rs2123499939 | 1995 | Q>H | No | Ensembl | |
| rs1195247043 | 1995 | Q>P | No | Ensembl | |
| TCGA novel | 1995 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2123499946 | 1996 | Q>G | No | Ensembl | |
|
COSM1325113 COSM1325112 |
1996 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with Q7Z406
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| actomyosin | Any complex of actin, myosin, and accessory proteins. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| 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. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
| myosin II filament | A bipolar filament composed of myosin II molecules. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
4 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. |
| 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. |
10 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. |
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| mitochondrion organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| neuronal action potential | An action potential that occurs in a neuron. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| 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. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are |
| vocalization behavior | The behavior in which an organism produces sounds by a mechanism involving its respiratory system. |
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 | |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | 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 |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVTMSVPG | RKAPPRPGPV | PEAAQPFLFT | PRGPSAGGGP | GSGTSPQVEW | TARRLVWVPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELHGFEAAAL | RDEGEEEAEV | ELAESGRRLR | LPRDQIQRMN | PPKFSKAEDM | AELTCLNEAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLHNLRERYY | SGLIYTYSGL | FCVVINPYKQ | LPIYTEAIVE | MYRGKKRHEV | PPHVYAVTEG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AYRSMLQDRE | DQSILCTGES | GAGKTENTKK | VIQYLAHVAS | SPKGRKEPGV | PGELERQLLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ANPILEAFGN | AKTVKNDNSS | RFGKFIRINF | DVAGYIVGAN | IETYLLEKSR | AIRQAKDECS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FHIFYQLLGG | AGEQLKADLL | LEPCSHYRFL | TNGPSSSPGQ | ERELFQETLE | SLRVLGFSHE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EIISMLRMVS | AVLQFGNIAL | KRERNTDQAT | MPDNTAAQKL | CRLLGLGVTD | FSRALLTPRI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KVGRDYVQKA | QTKEQADFAL | EALAKATYER | LFRWLVLRLN | RALDRSPRQG | ASFLGILDIA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GFEIFQLNSF | EQLCINYTNE | KLQQLFNHTM | FVLEQEEYQR | EGIPWTFLDF | GLDLQPCIDL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IERPANPPGL | LALLDEECWF | PKATDKSFVE | KVAQEQGGHP | KFQRPRHLRD | QADFSVLHYA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKVDYKANEW | LMKNMDPLND | NVAALLHQST | DRLTAEIWKD | VEGIVGLEQV | SSLGDGPPGG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RPRRGMFRTV | GQLYKESLSR | LMATLSNTNP | SFVRCIVPNH | EKRAGKLEPR | LVLDQLRCNG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VLEGIRICRQ | GFPNRILFQE | FRQRYEILTP | NAIPKGFMDG | KQACEKMIQA | LELDPNLYRV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GQSKIFFRAG | VLAQLEEERD | LKVTDIIVSF | QAAARGYLAR | RAFQKRQQQQ | SALRVMQRNC |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AAYLKLRHWQ | WWRLFTKVKP | LLQVTRQDEV | LQARAQELQK | VQELQQQSAR | EVGELQGRVA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QLEEERARLA | EQLRAEAELC | AEAEETRGRL | AARKQELELV | VSELEARVGE | EEECSRQMQT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EKKRLQQHIQ | ELEAHLEAEE | GARQKLQLEK | VTTEAKMKKF | EEDLLLLEDQ | NSKLSKERKL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LEDRLAEFSS | QAAEEEEKVK | SLNKLRLKYE | ATIADMEDRL | RKEEKGRQEL | EKLKRRLDGE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SSELQEQMVE | QQQRAEELRA | QLGRKEEELQ | AALARAEDEG | GARAQLLKSL | REAQAALAEA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QEDLESERVA | RTKAEKQRRD | LGEELEALRG | ELEDTLDSTN | AQQELRSKRE | QEVTELKKTL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| EEETRIHEAA | VQELRQRHGQ | ALGELAEQLE | QARRGKGAWE | KTRLALEAEV | SELRAELSSL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QTARQEGEQR | RRRLELQLQE | VQGRAGDGER | ARAEAAEKLQ | RAQAELENVS | GALNEAESKT |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| IRLSKELSST | EAQLHDAQEL | LQEETRAKLA | LGSRVRAMEA | EAAGLREQLE | EEAAARERAG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| RELQTAQAQL | SEWRRRQEEE | AGALEAGEEA | RRRAAREAEA | LTQRLAEKTE | TVDRLERGRR |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| RLQQELDDAT | MDLEQQRQLV | STLEKKQRKF | DQLLAEEKAA | VLRAVEERER | AEAEGREREA |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| RALSLTRALE | EEQEAREELE | RQNRALRAEL | EALLSSKDDV | GKSVHELERA | CRVAEQAAND |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LRAQVTELED | ELTAAEDAKL | RLEVTVQALK | TQHERDLQGR | DEAGEERRRQ | LAKQLRDAEV |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| ERDEERKQRT | LAVAARKKLE | GELEELKAQM | ASAGQGKEEA | VKQLRKMQAQ | MKELWREVEE |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| TRTSREEIFS | QNRESEKRLK | GLEAEVLRLQ | EELAASDRAR | RQAQQDRDEM | ADEVANGNLS |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| KAAILEEKRQ | LEGRLGQLEE | ELEEEQSNSE | LLNDRYRKLL | LQVESLTTEL | SAERSFSAKA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| ESGRQQLERQ | IQELRGRLGE | EDAGARARHK | MTIAALESKL | AQAEEQLEQE | TRERILSGKL |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| VRRAEKRLKE | VVLQVEEERR | VADQLRDQLE | KGNLRVKQLK | RQLEEAEEEA | SRAQAGRRRL |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| QRELEDVTES | AESMNREVTT | LRNRLRRGPL | TFTTRTVRQV | FRLEEGVASD | EEAEEAQPGS |
| 1990 | |||||
| GPSPEPEGSP | PAHPQ |