cancervariants / cancervariants/variation-normalization
Various variants unable to be normalized
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Description
I wrote an audit script to go through the variants in [Cancer Hotspots](https://www.cancerhotspots.org/#/home) and create a list of variants that could not be normalized by `variation-normalizer`. These were all from calling the `/normalize` endpoint. Most seem to be premature stops or duplications, but there are a handful of SNVs. Some of these may or may not relate to the same issue causing #661 (which you will also see below in the log)
Here are the results:
```
Log file: logs/audit_hotspots_variation_normalizer_20260408T193453Z.log
Variation normalizer base URL: http://localhost:8001/variation
Hotspots variation normalizer audit summary:
input file: hotspots.txt
expanded hotspot variants: 4027
variants normalized by /normalize: 3825
variants not normalized by /normalize: 202
failure reasons:
1: TP53 X187*: Unable to translate TP53 X187*
1: TP53 X307*: Unable to translate TP53 X307*
1: MYD88 L265P: Unable to translate MYD88 L265P
1: TP53 X126*: Unable to translate TP53 X126*
1: B2M M1R: Unable to find classification for: B2M M1R
1: MET X1010*: Unable to translate MET X1010*
1: CDK4 R24L: Unable to find classification for: CDK4 R24L
1: TP53 X261*: Unable to translate TP53 X261*
1: STK19 D89N: Unable to translate STK19 D89N
1: STK19 D89D: Unable to translate STK19 D89D
1: TP53 X331*: Unable to translate TP53 X331*
1: HIST1H3B K28M: Unable to translate HIST1H3B K28M
1: HIST1H3B K28E: Unable to translate HIST1H3B K28E
1: TP53 X225*: Unable to translate TP53 X225*
1: TP53 X125*: Unable to translate TP53 X125*
1: EIF1AX X113*: Unable to translate EIF1AX X113*
1: SDHAF2 X87*: Unable to translate SDHAF2 X87*
1: TP53 X224*: Unable to translate TP53 X224*
1: PIK3CA R38C: Unable to find classification for: PIK3CA R38C
1: TP53 X33*: Unable to translate TP53 X33*
1: RB1 X405*: Unable to translate RB1 X405*
1: PIK3R1 X582*: Unable to translate PIK3R1 X582*
1: VHL X114*: Unable to translate VHL X114*
1: HIST1H1C A180A: Unable to translate HIST1H1C A180A
1: HIST1H1C A180P: Unable to translate HIST1H1C A180P
1: PTEN X70*: Unable to translate PTEN X70*
1: VHL X155*: Unable to translate VHL X155*
1: STK11 X155*: Unable to translate STK11 X155*
1: STK11 X245*: Unable to translate STK11 X245*
1: CDKN2A X51*: Unable to translate CDKN2A X51*
1: B2M X23*: Unable to translate B2M X23*
1: PTEN X343*: Unable to translate PTEN X343*
1: MYD88 S243N: Unable to translate MYD88 S243N
1: PTEN X212*: Unable to translate PTEN X212*
1: TP53 X332*: Unable to translate TP53 X332*
1: ETV6 X11*: Unable to translate ETV6 X11*
1: RB1 X500*: Unable to translate RB1 X500*
1: TP63 X194*: Unable to translate TP63 X194*
1: RB1 X474*: Unable to translate RB1 X474*
1: CDH1 X278*: Unable to translate CDH1 X278*
1: CDKN2A X153*: Unable to translate CDKN2A X153*
1: STK11 X307*: Unable to translate STK11 X307*
1: RB1 X830*: Unable to translate RB1 X830*
1: EP300 X1429*: Unable to translate EP300 X1429*
1: RB1 X654*: Unable to translate RB1 X654*
1: HIST1H3C K37M: Unable to translate HIST1H3C K37M
1: HIST1H3C K37K: Unable to translate HIST1H3C K37K
1: RB1 X445*: Unable to translate RB1 X445*
1: PTEN X268*: Unable to translate PTEN X268*
1: CDH1 X177*: Unable to translate CDH1 X177*
1: TP53 P250R: Unable to find classification for: TP53 P250R
1: CDH1 X440*: Unable to translate CDH1 X440*
1: TP53 X32*: Unable to translate TP53 X32*
1: RB1 X127*: Unable to translate RB1 X127*
1: KDM6A X1336*: Unable to translate KDM6A X1336*
1: RB1 X203*: Unable to translate RB1 X203*
1: STK11 X288*: Unable to translate STK11 X288*
1: RB1 X46*: Unable to translate RB1 X46*
1: STK11 X97*: Unable to translate STK11 X97*
1: RB1 X702*: Unable to translate RB1 X702*
1: PTEN X85*: Unable to translate PTEN X85*
1: KRAS A11A: Unable to find classification for: KRAS A11A
1: GSK3B X239*: Unable to translate GSK3B X239*
1: RB1 X605*: Unable to translate RB1 X605*
1: PTEN X342*: Unable to translate PTEN X342*
1: EIF1AX G6D: Unable to find classification for: EIF1AX G6D
1: EIF1AX G6C: Unable to find classification for: EIF1AX G6C
1: EIF1AX G6S: Unable to find classification for: EIF1AX G6S
1: RB1 X89*: Unable to translate RB1 X89*
1: CDH1 X722*: Unable to translate CDH1 X722*
1: KDM6A X1293*: Unable to translate KDM6A X1293*
1: FOXP1 X511*: Unable to translate FOXP1 X511*
1: RB1 X776*: Unable to translate RB1 X776*
1: HIST1H3B E51K: Unable to translate HIST1H3B E51K
1: HIST1H3B E51E: Unable to translate HIST1H3B E51E
1: HIST1H3B E51Q: Unable to translate HIST1H3B E51Q
1: HIST1H3B E51D: Unable to translate HIST1H3B E51D
1: EIF1AX P2P: Unable to find classification for: EIF1AX P2P
1: MAP2K4 X297*: Unable to translate MAP2K4 X297*
1: HIST1H3B E106K: Unable to translate HIST1H3B E106K
1: HIST1H3B E106Q: Unable to translate HIST1H3B E106Q
1: HIST1H3B E106E: Unable to translate HIST1H3B E106E
1: EP300 X1539*: Unable to translate EP300 X1539*
1: GPS2 X242*: Unable to translate GPS2 X242*
1: MYD88 M232T: Unable to translate MYD88 M232T
1: ATRX X199*: Unable to translate ATRX X199*
1: PIK3R1 X475*: Unable to translate PIK3R1 X475*
1: FAM58A X141*: Unable to translate FAM58A X141*
1: EIF1AX X6*: Unable to translate EIF1AX X6*
1: PBRM1 X856*: Unable to translate PBRM1 X856*
1: RAC1 P34H: Unable to find classification for: RAC1 P34H
1: AXIN1 X652*: Unable to translate AXIN1 X652*
1: CD79B X185*: Unable to translate CD79B X185*
1: RBM10 X91*: Unable to translate RBM10 X91*
1: CDKN1B X159*: Unable to translate CDKN1B X159*
1: CASP8 X243*: Unable to translate CASP8 X243*
1: MAP2K4 X347*: Unable to translate MAP2K4 X347*
1: CIC X151*: Unable to translate CIC X151*
1: RB1 X463*: Unable to translate RB1 X463*
1: KDM6A X1246*: Unable to translate KDM6A X1246*
1: STK11 X125*: Unable to translate STK11 X125*
1: PIK3R1 X434*: Unable to translate PIK3R1 X434*
1: RECQL4 X766*: Unable to translate RECQL4 X766*
1: FBXW7 X195*: Unable to translate FBXW7 X195*
1: CDKN1A M1R: Unable to find classification for: CDKN1A M1R
1: TSC1 X797*: Unable to translate TSC1 X797*
1: PTEN X267*: Unable to translate PTEN X267*
1: SETD2 X1572*: Unable to translate SETD2 X1572*
1: MEF2B K4E: Unable to translate MEF2B K4E
1: PPP4R2 *418L: Unable to tokenize: *418L
1: PPP4R2 *418Y: Unable to tokenize: *418Y
1: KDM6A X76*: Unable to translate KDM6A X76*
1: BRAF X327*: Unable to translate BRAF X327*
1: ARID1A X911*: Unable to translate ARID1A X911*
1: KDM6A X129*: Unable to translate KDM6A X129*
1: HIST1H1C E115K: Unable to translate HIST1H1C E115K
1: MAP3K13 X502*: Unable to translate MAP3K13 X502*
1: EIF4A2 M1R: Unable to find classification for: EIF4A2 M1R
1: RB1 X406*: Unable to translate RB1 X406*
1: STK11 X200*: Unable to translate STK11 X200*
1: SMAD4 D537_E538dup: Unable to tokenize: D537_E538dup
1: FOXA1 K264dup: Unable to tokenize: K264dup
1: FOXA1 K267dup: Unable to tokenize: K267dup
1: FOXA1 S282_G283dup: Unable to tokenize: S282_G283dup
1: CEBPA V308dup: Unable to tokenize: V308dup
1: PIK3R1 Y452dup: Unable to tokenize: Y452dup
1: PIK3R1 D464_E468dup: Unable to tokenize: D464_E468dup
1: PIK3R1 D464_Y470dup: Unable to tokenize: D464_Y470dup
1: PIK3R1 E458_Y463dup: Unable to tokenize: E458_Y463dup
1: PIK3R1 E462dup: Unable to tokenize: E462dup
1: PIK3R1 E468_Y470dup: Unable to tokenize: E468_Y470dup
1: PIK3R1 H450_E451dup: Unable to tokenize: H450_E451dup
1: PIK3R1 H450_Q455dup: Unable to tokenize: H450_Q455dup
1: PIK3R1 N453_D464dup: Unable to tokenize: N453_D464dup
1: PIK3R1 Q455_S460dup: Unable to tokenize: Q455_S460dup
1: PIK3R1 R465dup: Unable to tokenize: R465dup
1: PIK3R1 Y463_E468dup: Unable to tokenize: Y463_E468dup
1: PIK3R1 D569dup: Unable to tokenize: D569dup
1: PIK3R1 K575_R577dup: Unable to tokenize: K575_R577dup
1: TP53 N239dup: Unable to tokenize: N239dup
1: TP53 S241dup: Unable to tokenize: S241dup
1: TP53 T253dup: Unable to tokenize: T253dup
1: TP53 V274_C275dup: Unable to tokenize: V274_C275dup
1: TP53 A276_C277dup: Unable to tokenize: A276_C277dup
1: TP53 C277dup: Unable to tokenize: C277dup
1: TP53 I255dup: Unable to tokenize: I255dup
1: TP53 L252dup: Unable to tokenize: L252dup
1: TP53 N235_Y236dup: Unable to tokenize: N235_Y236dup
1: TP53 S260_L264dup: Unable to tokenize: S260_L264dup
1: TP53 V274dup: Unable to tokenize: V274dup
1: TP53 D148_T155dup: Unable to tokenize: D148_T155dup
1: TP53 I162dup: Unable to tokenize: I162dup
1: TP53 L130_A138dup: Unable to tokenize: L130_A138dup
1: TP53 P142dup: Unable to tokenize: P142dup
1: TP53 R158_A159dup: Unable to tokenize: R158_A159dup
1: TP53 V147_D148dup: Unable to tokenize: V147_D148dup
1: TP53 V157_R158dup: Unable to tokenize: V157_R158dup
1: TP53 C176dup: Unable to tokenize: C176dup
1: TP53 V173dup: Unable to tokenize: V173dup
1: PIK3CA E110_K111dup: Unable to tokenize: E110_K111dup
1: PIK3CA L436_P449dup: Unable to tokenize: L436_P449dup
1: ERBB2 Y772_A775dup: Unable to tokenize: Y772_A775dup
1: ERBB2 M774dup: Unable to tokenize: M774dup
1: ERBB2 G778_P780dup: Unable to tokenize: G778_P780dup
1: EGFR N771_H773dup: Unable to tokenize: N771_H773dup
1: EGFR A767_V769dup: Unable to tokenize: A767_V769dup
1: EGFR H773dup: Unable to tokenize: H773dup
1: EGFR S768_D770dup: Unable to tokenize: S768_D770dup
1: EGFR D770_P772dup: Unable to tokenize: D770_P772dup
1: EGFR H773_V774dup: Unable to tokenize: H773_V774dup
1: EGFR P772_H773dup: Unable to tokenize: P772_H773dup
1: EGFR Y764_D770dup: Unable to tokenize: Y764_D770dup
1: CTNNB1 A43_P44dup: Unable to tokenize: A43_P44dup
1: HIST1H1C K23del: Unable to translate HIST1H1C K23del
1: MTOR E1455_D1458dup: Unable to tokenize: E1455_D1458dup
1: MTOR E1455_E1457dup: Unable to tokenize: E1455_E1457dup
1: KIT L576_H580dup: Unable to tokenize: L576_H580dup
1: KIT T574_H580dup: Unable to tokenize: T574_H580dup
1: KIT A502_Y503dup: Unable to tokenize: A502_Y503dup
1: LATS2 P479_A480dup: Unable to tokenize: P479_A480dup
1: NFE2L2 I28dup: Unable to tokenize: I28dup
1: BRAF T599dup: Unable to tokenize: T599dup
1: BRAF I592_A598dup: Unable to tokenize: I592_A598dup
1: AKT2 C60_I75dup: Unable to tokenize: C60_I75dup
1: AKT2 R67_L78dup: Unable to tokenize: R67_L78dup
1: AKT2 R76_I84dup: Unable to tokenize: R76_I84dup
1: VHL E70_R79dup: Unable to tokenize: E70_R79dup
1: DAXX E457dup: Unable to tokenize: E457dup
1: U2AF1 G223dup: Unable to tokenize: G223dup
1: AKT1 P68_C77dup: Unable to tokenize: P68_C77dup
1: AKT1 T65_I75dup: Unable to tokenize: T65_I75dup
1: FLT3 F594_D600dup: Unable to tokenize: F594_D600dup
1: FLT3 D586_E596dup: Unable to tokenize: D586_E596dup
1: FLT3 E598_F612dup: Unable to tokenize: E598_F612dup
1: FLT3 M578_E598dup: Unable to tokenize: M578_E598dup
1: FLT3 N587_D600dup: Unable to tokenize: N587_D600dup
1: FLT3 R595_L601dup: Unable to tokenize: R595_L601dup
1: FLT3 S584_D600dup: Unable to tokenize: S584_D600dup
1: FLT3 S584_F605dup: Unable to tokenize: S584_F605dup
1: FLT3 S585_F594dup: Unable to tokenize: S585_F594dup
1: FLT3 Y597_K602dup: Unable to tokenize: Y597_K602dup
1: FLT3 Y599_E604dup: Unable to tokenize: Y599_E604dup
Variants not normalized by /normalize:
query=TP53 X187* gene=TP53 residue=X187 alt=sp descriptor=X187* observations=100
warnings=Unable to translate TP53 X187*
query=TP53 X307* gene=TP53 residue=X307 alt=sp descriptor=X307* observations=77
warnings=Unable to translate TP53 X307*
query=MYD88 L265P gene=MYD88 residue=L265 alt=P descriptor=L265P observations=37
warnings=Unable to translate MYD88 L265P
query=TP53 X126* gene=TP53 residue=X126 alt=sp descriptor=X126* observations=75
warnings=Unable to translate TP53 X126*
query=B2M M1R gene=B2M residue=M1 alt=R descriptor=M1R observations=3
warnings=Unable to find classification for: B2M M1R
query=MET X1010* gene=MET residue=X1010 alt=sp descriptor=X1010* observations=19
warnings=Unable to translate MET X1010*
query=CDK4 R24L gene=CDK4 residue=R24 alt=L descriptor=R24L observations=10
warnings=Unable to find classification for: CDK4 R24L
query=TP53 X261* gene=TP53 residue=X261 alt=sp descriptor=X261* observations=51
warnings=Unable to translate TP53 X261*
query=STK19 D89N gene=STK19 residue=D89 alt=N descriptor=D89N observations=16
warnings=Unable to translate STK19 D89N
query=STK19 D89D gene=STK19 residue=D89 alt=D descriptor=D89D observations=2
warnings=Unable to translate STK19 D89D
query=TP53 X331* gene=TP53 residue=X331 alt=sp descriptor=X331* observations=49
warnings=Unable to translate TP53 X331*
query=HIST1H3B K28M gene=HIST1H3B residue=K28 alt=M descriptor=K28M observations=11
warnings=Unable to translate HIST1H3B K28M
query=HIST1H3B K28E gene=HIST1H3B residue=K28 alt=E descriptor=K28E observations=1
warnings=Unable to translate HIST1H3B K28E
query=TP53 X225* gene=TP53 residue=X225 alt=sp descriptor=X225* observations=46
warnings=Unable to translate TP53 X225*
query=TP53 X125* gene=TP53 residue=X125 alt=sp descriptor=X125* observations=43
warnings=Unable to translate TP53 X125*
query=EIF1AX X113* gene=EIF1AX residue=X113 alt=sp descriptor=X113* observations=11
warnings=Unable to translate EIF1AX X113*
query=SDHAF2 X87* gene=SDHAF2 residue=X87 alt=sp descriptor=X87* observations=9
warnings=Unable to translate SDHAF2 X87*
query=TP53 X224* gene=TP53 residue=X224 alt=sp descriptor=X224* observations=39
warnings=Unable to translate TP53 X224*
query=PIK3CA R38C gene=PIK3CA residue=R38 alt=C descriptor=R38C observations=8
warnings=Unable to find classification for: PIK3CA R38C
query=TP53 X33* gene=TP53 residue=X33 alt=sp descriptor=X33* observations=35
warnings=Unable to translate TP53 X33*
query=RB1 X405* gene=RB1 residue=X405 alt=sp descriptor=X405* observations=19
warnings=Unable to translate RB1 X405*
query=PIK3R1 X582* gene=PIK3R1 residue=X582 alt=sp descriptor=X582* observations=14
warnings=Unable to translate PIK3R1 X582*
query=VHL X114* gene=VHL residue=X114 alt=sp descriptor=X114* observations=16
warnings=Unable to translate VHL X114*
query=HIST1H1C A180A gene=HIST1H1C residue=A180 alt=A descriptor=A180A observations=21
warnings=Unable to translate HIST1H1C A180A
query=HIST1H1C A180P gene=HIST1H1C residue=A180 alt=P descriptor=A180P observations=1
warnings=Unable to translate HIST1H1C A180P
query=PTEN X70* gene=PTEN residue=X70 alt=sp descriptor=X70* observations=15
warnings=Unable to translate PTEN X70*
query=VHL X155* gene=VHL residue=X155 alt=sp descriptor=X155* observations=14
warnings=Unable to translate VHL X155*
query=STK11 X155* gene=STK11 residue=X155 alt=sp descriptor=X155* observations=14
warnings=Unable to translate STK11 X155*
query=STK11 X245* gene=STK11 residue=X245 alt=sp descriptor=X245* observations=13
warnings=Unable to translate STK11 X245*
query=CDKN2A X51* gene=CDKN2A residue=X51 alt=sp descriptor=X51* observations=20
warnings=Unable to translate CDKN2A X51*
query=B2M X23* gene=B2M residue=X23 alt=sp descriptor=X23* observations=17
warnings=Unable to translate B2M X23*
query=PTEN X343* gene=PTEN residue=X343 alt=sp descriptor=X343* observations=15
warnings=Unable to translate PTEN X343*
query=MYD88 S243N gene=MYD88 residue=S243 alt=N descriptor=S243N observations=7
warnings=Unable to translate MYD88 S243N
query=PTEN X212* gene=PTEN residue=X212 alt=sp descriptor=X212* observations=19
warnings=Unable to translate PTEN X212*
query=TP53 X332* gene=TP53 residue=X332 alt=sp descriptor=X332* observations=48
warnings=Unable to translate TP53 X332*
query=ETV6 X11* gene=ETV6 residue=X11 alt=sp descriptor=X11* observations=5
warnings=Unable to translate ETV6 X11*
query=RB1 X500* gene=RB1 residue=X500 alt=sp descriptor=X500* observations=10
warnings=Unable to translate RB1 X500*
query=TP63 X194* gene=TP63 residue=X194 alt=sp descriptor=X194* observations=5
warnings=Unable to translate TP63 X194*
query=RB1 X474* gene=RB1 residue=X474 alt=sp descriptor=X474* observations=9
warnings=Unable to translate RB1 X474*
query=CDH1 X278* gene=CDH1 residue=X278 alt=sp descriptor=X278* observations=6
warnings=Unable to translate CDH1 X278*
query=CDKN2A X153* gene=CDKN2A residue=X153 alt=sp descriptor=X153* observations=16
warnings=Unable to translate CDKN2A X153*
query=STK11 X307* gene=STK11 residue=X307 alt=sp descriptor=X307* observations=8
warnings=Unable to translate STK11 X307*
query=RB1 X830* gene=RB1 residue=X830 alt=sp descriptor=X830* observations=11
warnings=Unable to translate RB1 X830*
query=EP300 X1429* gene=EP300 residue=X1429 alt=sp descriptor=X1429* observations=6
warnings=Unable to translate EP300 X1429*
query=RB1 X654* gene=RB1 residue=X654 alt=sp descriptor=X654* observations=8
warnings=Unable to translate RB1 X654*
query=HIST1H3C K37M gene=HIST1H3C residue=K37 alt=M descriptor=K37M observations=5
warnings=Unable to translate HIST1H3C K37M
query=HIST1H3C K37K gene=HIST1H3C residue=K37 alt=K descriptor=K37K observations=1
warnings=Unable to translate HIST1H3C K37K
query=RB1 X445* gene=RB1 residue=X445 alt=sp descriptor=X445* observations=7
warnings=Unable to translate RB1 X445*
query=PTEN X268* gene=PTEN residue=X268 alt=sp descriptor=X268* observations=12
warnings=Unable to translate PTEN X268*
query=CDH1 X177* gene=CDH1 residue=X177 alt=sp descriptor=X177* observations=6
warnings=Unable to translate CDH1 X177*
query=TP53 P250R gene=TP53 residue=P250 alt=R descriptor=P250R observations=1
warnings=Unable to find classification for: TP53 P250R
query=CDH1 X440* gene=CDH1 residue=X440 alt=sp descriptor=X440* observations=7
warnings=Unable to translate CDH1 X440*
query=TP53 X32* gene=TP53 residue=X32 alt=sp descriptor=X32* observations=20
warnings=Unable to translate TP53 X32*
query=RB1 X127* gene=RB1 residue=X127 alt=sp descriptor=X127* observations=7
warnings=Unable to translate RB1 X127*
query=KDM6A X1336* gene=KDM6A residue=X1336 alt=sp descriptor=X1336* observations=6
warnings=Unable to translate KDM6A X1336*
query=RB1 X203* gene=RB1 residue=X203 alt=sp descriptor=X203* observations=9
warnings=Unable to translate RB1 X203*
query=STK11 X288* gene=STK11 residue=X288 alt=sp descriptor=X288* observations=8
warnings=Unable to translate STK11 X288*
query=RB1 X46* gene=RB1 residue=X46 alt=sp descriptor=X46* observations=7
warnings=Unable to translate RB1 X46*
query=STK11 X97* gene=STK11 residue=X97 alt=sp descriptor=X97* observations=8
warnings=Unable to translate STK11 X97*
query=RB1 X702* gene=RB1 residue=X702 alt=sp descriptor=X702* observations=6
warnings=Unable to translate RB1 X702*
query=PTEN X85* gene=PTEN residue=X85 alt=sp descriptor=X85* observations=8
warnings=Unable to translate PTEN X85*
query=KRAS A11A gene=KRAS residue=A11 alt=A descriptor=A11A observations=6
warnings=Unable to find classification for: KRAS A11A
query=GSK3B X239* gene=GSK3B residue=X239 alt=sp descriptor=X239* observations=3
warnings=Unable to translate GSK3B X239*
query=RB1 X605* gene=RB1 residue=X605 alt=sp descriptor=X605* observations=7
warnings=Unable to translate RB1 X605*
query=PTEN X342* gene=PTEN residue=X342 alt=sp descriptor=X342* observations=8
warnings=Unable to translate PTEN X342*
query=EIF1AX G6D gene=EIF1AX residue=G6 alt=D descriptor=G6D observations=4
warnings=Unable to find classification for: EIF1AX G6D
query=EIF1AX G6C gene=EIF1AX residue=G6 alt=C descriptor=G6C observations=1
warnings=Unable to find classification for: EIF1AX G6C
query=EIF1AX G6S gene=EIF1AX residue=G6 alt=S descriptor=G6S observations=1
warnings=Unable to find classification for: EIF1AX G6S
query=RB1 X89* gene=RB1 residue=X89 alt=sp descriptor=X89* observations=8
warnings=Unable to translate RB1 X89*
query=CDH1 X722* gene=CDH1 residue=X722 alt=sp descriptor=X722* observations=4
warnings=Unable to translate CDH1 X722*
query=KDM6A X1293* gene=KDM6A residue=X1293 alt=sp descriptor=X1293* observations=5
warnings=Unable to translate KDM6A X1293*
query=FOXP1 X511* gene=FOXP1 residue=X511 alt=sp descriptor=X511* observations=11
warnings=Unable to translate FOXP1 X511*
query=RB1 X776* gene=RB1 residue=X776 alt=sp descriptor=X776* observations=6
warnings=Unable to translate RB1 X776*
query=HIST1H3B E51K gene=HIST1H3B residue=E51 alt=K descriptor=E51K observations=4
warnings=Unable to translate HIST1H3B E51K
query=HIST1H3B E51E gene=HIST1H3B residue=E51 alt=E descriptor=E51E observations=3
warnings=Unable to translate HIST1H3B E51E
query=HIST1H3B E51Q gene=HIST1H3B residue=E51 alt=Q descriptor=E51Q observations=3
warnings=Unable to translate HIST1H3B E51Q
query=HIST1H3B E51D gene=HIST1H3B residue=E51 alt=D descriptor=E51D observations=2
warnings=Unable to translate HIST1H3B E51D
query=EIF1AX P2P gene=EIF1AX residue=P2 alt=P descriptor=P2P observations=1
warnings=Unable to find classification for: EIF1AX P2P
query=MAP2K4 X297* gene=MAP2K4 residue=X297 alt=sp descriptor=X297* observations=6
warnings=Unable to translate MAP2K4 X297*
query=HIST1H3B E106K gene=HIST1H3B residue=E106 alt=K descriptor=E106K observations=8
warnings=Unable to translate HIST1H3B E106K
query=HIST1H3B E106Q gene=HIST1H3B residue=E106 alt=Q descriptor=E106Q observations=5
warnings=Unable to translate HIST1H3B E106Q
query=HIST1H3B E106E gene=HIST1H3B residue=E106 alt=E descriptor=E106E observations=1
warnings=Unable to translate HIST1H3B E106E
query=EP300 X1539* gene=EP300 residue=X1539 alt=sp descriptor=X1539* observations=5
warnings=Unable to translate EP300 X1539*
query=GPS2 X242* gene=GPS2 residue=X242 alt=sp descriptor=X242* observations=2
warnings=Unable to translate GPS2 X242*
query=MYD88 M232T gene=MYD88 residue=M232 alt=T descriptor=M232T observations=3
warnings=Unable to translate MYD88 M232T
query=ATRX X199* gene=ATRX residue=X199 alt=sp descriptor=X199* observations=4
warnings=Unable to translate ATRX X199*
query=PIK3R1 X475* gene=PIK3R1 residue=X475 alt=sp descriptor=X475* observations=5
warnings=Unable to translate PIK3R1 X475*
query=FAM58A X141* gene=FAM58A residue=X141 alt=sp descriptor=X141* observations=4
warnings=Unable to translate FAM58A X141*
query=EIF1AX X6* gene=EIF1AX residue=X6 alt=sp descriptor=X6* observations=5
warnings=Unable to translate EIF1AX X6*
query=PBRM1 X856* gene=PBRM1 residue=X856 alt=sp descriptor=X856* observations=4
warnings=Unable to translate PBRM1 X856*
query=RAC1 P34H gene=RAC1 residue=P34 alt=H descriptor=P34H observations=1
warnings=Unable to find classification for: RAC1 P34H
query=AXIN1 X652* gene=AXIN1 residue=X652 alt=sp descriptor=X652* observations=3
warnings=Unable to translate AXIN1 X652*
query=CD79B X185* gene=CD79B residue=X185 alt=sp descriptor=X185* observations=3
warnings=Unable to translate CD79B X185*
query=RBM10 X91* gene=RBM10 residue=X91 alt=sp descriptor=X91* observations=5
warnings=Unable to translate RBM10 X91*
query=CDKN1B X159* gene=CDKN1B residue=X159 alt=sp descriptor=X159* observations=8
warnings=Unable to translate CDKN1B X159*
query=CASP8 X243* gene=CASP8 residue=X243 alt=sp descriptor=X243* observations=7
warnings=Unable to translate CASP8 X243*
query=MAP2K4 X347* gene=MAP2K4 residue=X347 alt=sp descriptor=X347* observations=5
warnings=Unable to translate MAP2K4 X347*
query=CIC X151* gene=CIC residue=X151 alt=sp descriptor=X151* observations=6
warnings=Unable to translate CIC X151*
query=RB1 X463* gene=RB1 residue=X463 alt=sp descriptor=X463* observations=5
warnings=Unable to translate RB1 X463*
query=KDM6A X1246* gene=KDM6A residue=X1246 alt=sp descriptor=X1246* observations=4
warnings=Unable to translate KDM6A X1246*
query=STK11 X125* gene=STK11 residue=X125 alt=sp descriptor=X125* observations=5
warnings=Unable to translate STK11 X125*
query=PIK3R1 X434* gene=PIK3R1 residue=X434 alt=sp descriptor=X434* observations=5
warnings=Unable to translate PIK3R1 X434*
query=RECQL4 X766* gene=RECQL4 residue=X766 alt=sp descriptor=X766* observations=6
warnings=Unable to translate RECQL4 X766*
query=FBXW7 X195* gene=FBXW7 residue=X195 alt=sp descriptor=X195* observations=5
warnings=Unable to translate FBXW7 X195*
query=CDKN1A M1R gene=CDKN1A residue=M1 alt=R descriptor=M1R observations=1
warnings=Unable to find classification for: CDKN1A M1R
query=TSC1 X797* gene=TSC1 residue=X797 alt=sp descriptor=X797* observations=4
warnings=Unable to translate TSC1 X797*
query=PTEN X267* gene=PTEN residue=X267 alt=sp descriptor=X267* observations=5
warnings=Unable to translate PTEN X267*
query=SETD2 X1572* gene=SETD2 residue=X1572 alt=sp descriptor=X1572* observations=6
warnings=Unable to translate SETD2 X1572*
query=MEF2B K4E gene=MEF2B residue=K4 alt=E descriptor=K4E observations=4
warnings=Unable to translate MEF2B K4E
query=PPP4R2 *418L gene=PPP4R2 residue=*418 alt=L descriptor=*418L observations=1
warnings=Unable to tokenize: *418L
query=PPP4R2 *418Y gene=PPP4R2 residue=*418 alt=Y descriptor=*418Y observations=1
warnings=Unable to tokenize: *418Y
query=KDM6A X76* gene=KDM6A residue=X76 alt=sp descriptor=X76* observations=3
warnings=Unable to translate KDM6A X76*
query=BRAF X327* gene=BRAF residue=X327 alt=sp descriptor=X327* observations=3
warnings=Unable to translate BRAF X327*
query=ARID1A X911* gene=ARID1A residue=X911 alt=sp descriptor=X911* observations=5
warnings=Unable to translate ARID1A X911*
query=KDM6A X129* gene=KDM6A residue=X129 alt=sp descriptor=X129* observations=5
warnings=Unable to translate KDM6A X129*
query=HIST1H1C E115K gene=HIST1H1C residue=E115 alt=K descriptor=E115K observations=4
warnings=Unable to translate HIST1H1C E115K
query=MAP3K13 X502* gene=MAP3K13 residue=X502 alt=sp descriptor=X502* observations=4
warnings=Unable to translate MAP3K13 X502*
query=EIF4A2 M1R gene=EIF4A2 residue=M1 alt=R descriptor=M1R observations=1
warnings=Unable to find classification for: EIF4A2 M1R
query=RB1 X406* gene=RB1 residue=X406 alt=sp descriptor=X406* observations=9
warnings=Unable to translate RB1 X406*
query=STK11 X200* gene=STK11 residue=X200 alt=sp descriptor=X200* observations=5
warnings=Unable to translate STK11 X200*
query=SMAD4 D537_E538dup gene=SMAD4 residue=536-546 alt=D537_E538dup descriptor=D537_E538dup observations=1
warnings=Unable to tokenize: D537_E538dup
query=FOXA1 K264dup gene=FOXA1 residue=249-409 alt=K264dup descriptor=K264dup observations=1
warnings=Unable to tokenize: K264dup
query=FOXA1 K267dup gene=FOXA1 residue=249-409 alt=K267dup descriptor=K267dup observations=1
warnings=Unable to tokenize: K267dup
query=FOXA1 S282_G283dup gene=FOXA1 residue=249-409 alt=S282_G283dup descriptor=S282_G283dup observations=1
warnings=Unable to tokenize: S282_G283dup
query=CEBPA V308dup gene=CEBPA residue=307-311 alt=V308dup descriptor=V308dup observations=1
warnings=Unable to tokenize: V308dup
query=PIK3R1 Y452dup gene=PIK3R1 residue=439-470 alt=Y452dup descriptor=Y452dup observations=2
warnings=Unable to tokenize: Y452dup
query=PIK3R1 D464_E468dup gene=PIK3R1 residue=439-470 alt=D464_E468dup descriptor=D464_E468dup observations=1
warnings=Unable to tokenize: D464_E468dup
query=PIK3R1 D464_Y470dup gene=PIK3R1 residue=439-470 alt=D464_Y470dup descriptor=D464_Y470dup observations=1
warnings=Unable to tokenize: D464_Y470dup
query=PIK3R1 E458_Y463dup gene=PIK3R1 residue=439-470 alt=E458_Y463dup descriptor=E458_Y463dup observations=1
warnings=Unable to tokenize: E458_Y463dup
query=PIK3R1 E462dup gene=PIK3R1 residue=439-470 alt=E462dup descriptor=E462dup observations=1
warnings=Unable to tokenize: E462dup
query=PIK3R1 E468_Y470dup gene=PIK3R1 residue=439-470 alt=E468_Y470dup descriptor=E468_Y470dup observations=1
warnings=Unable to tokenize: E468_Y470dup
query=PIK3R1 H450_E451dup gene=PIK3R1 residue=439-470 alt=H450_E451dup descriptor=H450_E451dup observations=1
warnings=Unable to tokenize: H450_E451dup
query=PIK3R1 H450_Q455dup gene=PIK3R1 residue=439-470 alt=H450_Q455dup descriptor=H450_Q455dup observations=1
warnings=Unable to tokenize: H450_Q455dup
query=PIK3R1 N453_D464dup gene=PIK3R1 residue=439-470 alt=N453_D464dup descriptor=N453_D464dup observations=1
warnings=Unable to tokenize: N453_D464dup
query=PIK3R1 Q455_S460dup gene=PIK3R1 residue=439-470 alt=Q455_S460dup descriptor=Q455_S460dup observations=1
warnings=Unable to tokenize: Q455_S460dup
query=PIK3R1 R465dup gene=PIK3R1 residue=439-470 alt=R465dup descriptor=R465dup observations=1
warnings=Unable to tokenize: R465dup
query=PIK3R1 Y463_E468dup gene=PIK3R1 residue=439-470 alt=Y463_E468dup descriptor=Y463_E468dup observations=1
warnings=Unable to tokenize: Y463_E468dup
query=PIK3R1 D569dup gene=PIK3R1 residue=558-582 alt=D569dup descriptor=D569dup observations=1
warnings=Unable to tokenize: D569dup
query=PIK3R1 K575_R577dup gene=PIK3R1 residue=558-582 alt=K575_R577dup descriptor=K575_R577dup observations=1
warnings=Unable to tokenize: K575_R577dup
query=TP53 N239dup gene=TP53 residue=229-292 alt=N239dup descriptor=N239dup observations=2
warnings=Unable to tokenize: N239dup
query=TP53 S241dup gene=TP53 residue=229-292 alt=S241dup descriptor=S241dup observations=2
warnings=Unable to tokenize: S241dup
query=TP53 T253dup gene=TP53 residue=229-292 alt=T253dup descriptor=T253dup observations=2
warnings=Unable to tokenize: T253dup
query=TP53 V274_C275dup gene=TP53 residue=229-292 alt=V274_C275dup descriptor=V274_C275dup observations=2
warnings=Unable to tokenize: V274_C275dup
query=TP53 A276_C277dup gene=TP53 residue=229-292 alt=A276_C277dup descriptor=A276_C277dup observations=1
warnings=Unable to tokenize: A276_C277dup
query=TP53 C277dup gene=TP53 residue=229-292 alt=C277dup descriptor=C277dup observations=1
warnings=Unable to tokenize: C277dup
query=TP53 I255dup gene=TP53 residue=229-292 alt=I255dup descriptor=I255dup observations=1
warnings=Unable to tokenize: I255dup
query=TP53 L252dup gene=TP53 residue=229-292 alt=L252dup descriptor=L252dup observations=1
warnings=Unable to tokenize: L252dup
query=TP53 N235_Y236dup gene=TP53 residue=229-292 alt=N235_Y236dup descriptor=N235_Y236dup observations=1
warnings=Unable to tokenize: N235_Y236dup
query=TP53 S260_L264dup gene=TP53 residue=229-292 alt=S260_L264dup descriptor=S260_L264dup observations=1
warnings=Unable to tokenize: S260_L264dup
query=TP53 V274dup gene=TP53 residue=229-292 alt=V274dup descriptor=V274dup observations=1
warnings=Unable to tokenize: V274dup
query=TP53 D148_T155dup gene=TP53 residue=128-163 alt=D148_T155dup descriptor=D148_T155dup observations=1
warnings=Unable to tokenize: D148_T155dup
query=TP53 I162dup gene=TP53 residue=128-163 alt=I162dup descriptor=I162dup observations=1
warnings=Unable to tokenize: I162dup
query=TP53 L130_A138dup gene=TP53 residue=128-163 alt=L130_A138dup descriptor=L130_A138dup observations=1
warnings=Unable to tokenize: L130_A138dup
query=TP53 P142dup gene=TP53 residue=128-163 alt=P142dup descriptor=P142dup observations=1
warnings=Unable to tokenize: P142dup
query=TP53 R158_A159dup gene=TP53 residue=128-163 alt=R158_A159dup descriptor=R158_A159dup observations=1
warnings=Unable to tokenize: R158_A159dup
query=TP53 V147_D148dup gene=TP53 residue=128-163 alt=V147_D148dup descriptor=V147_D148dup observations=1
warnings=Unable to tokenize: V147_D148dup
query=TP53 V157_R158dup gene=TP53 residue=128-163 alt=V157_R158dup descriptor=V157_R158dup observations=1
warnings=Unable to tokenize: V157_R158dup
query=TP53 C176dup gene=TP53 residue=173-187 alt=C176dup descriptor=C176dup observations=1
warnings=Unable to tokenize: C176dup
query=TP53 V173dup gene=TP53 residue=173-187 alt=V173dup descriptor=V173dup observations=1
warnings=Unable to tokenize: V173dup
query=PIK3CA E110_K111dup gene=PIK3CA residue=110-114 alt=E110_K111dup descriptor=E110_K111dup observations=1
warnings=Unable to tokenize: E110_K111dup
query=PIK3CA L436_P449dup gene=PIK3CA residue=436-466 alt=L436_P449dup descriptor=L436_P449dup observations=1
warnings=Unable to tokenize: L436_P449dup
query=ERBB2 Y772_A775dup gene=ERBB2 residue=772-775 alt=Y772_A775dup descriptor=Y772_A775dup observations=33
warnings=Unable to tokenize: Y772_A775dup
query=ERBB2 M774dup gene=ERBB2 residue=772-775 alt=M774dup descriptor=M774dup observations=1
warnings=Unable to tokenize: M774dup
query=ERBB2 G778_P780dup gene=ERBB2 residue=778-780 alt=G778_P780dup descriptor=G778_P780dup observations=12
warnings=Unable to tokenize: G778_P780dup
query=EGFR N771_H773dup gene=EGFR residue=764-774 alt=N771_H773dup descriptor=N771_H773dup observations=7
warnings=Unable to tokenize: N771_H773dup
query=EGFR A767_V769dup gene=EGFR residue=764-774 alt=A767_V769dup descriptor=A767_V769dup observations=5
warnings=Unable to tokenize: A767_V769dup
query=EGFR H773dup gene=EGFR residue=764-774 alt=H773dup descriptor=H773dup observations=5
warnings=Unable to tokenize: H773dup
query=EGFR S768_D770dup gene=EGFR residue=764-774 alt=S768_D770dup descriptor=S768_D770dup observations=4
warnings=Unable to tokenize: S768_D770dup
query=EGFR D770_P772dup gene=EGFR residue=764-774 alt=D770_P772dup descriptor=D770_P772dup observations=1
warnings=Unable to tokenize: D770_P772dup
query=EGFR H773_V774dup gene=EGFR residue=764-774 alt=H773_V774dup descriptor=H773_V774dup observations=1
warnings=Unable to tokenize: H773_V774dup
query=EGFR P772_H773dup gene=EGFR residue=764-774 alt=P772_H773dup descriptor=P772_H773dup observations=1
warnings=Unable to tokenize: P772_H773dup
query=EGFR Y764_D770dup gene=EGFR residue=764-774 alt=Y764_D770dup descriptor=Y764_D770dup observations=1
warnings=Unable to tokenize: Y764_D770dup
query=CTNNB1 A43_P44dup gene=CTNNB1 residue=23-71 alt=A43_P44dup descriptor=A43_P44dup observations=1
warnings=Unable to tokenize: A43_P44dup
query=HIST1H1C K23del gene=HIST1H1C residue=23 alt=K23del descriptor=K23del observations=4
warnings=Unable to translate HIST1H1C K23del
query=MTOR E1455_D1458dup gene=MTOR residue=1450-1468 alt=E1455_D1458dup descriptor=E1455_D1458dup observations=1
warnings=Unable to tokenize: E1455_D1458dup
query=MTOR E1455_E1457dup gene=MTOR residue=1450-1468 alt=E1455_E1457dup descriptor=E1455_E1457dup observations=1
warnings=Unable to tokenize: E1455_E1457dup
query=KIT L576_H580dup gene=KIT residue=550-580 alt=L576_H580dup descriptor=L576_H580dup observations=1
warnings=Unable to tokenize: L576_H580dup
query=KIT T574_H580dup gene=KIT residue=550-580 alt=T574_H580dup descriptor=T574_H580dup observations=1
warnings=Unable to tokenize: T574_H580dup
query=KIT A502_Y503dup gene=KIT residue=502-503 alt=A502_Y503dup descriptor=A502_Y503dup observations=8
warnings=Unable to tokenize: A502_Y503dup
query=LATS2 P479_A480dup gene=LATS2 residue=479-480 alt=P479_A480dup descriptor=P479_A480dup observations=12
warnings=Unable to tokenize: P479_A480dup
query=NFE2L2 I28dup gene=NFE2L2 residue=21-42 alt=I28dup descriptor=I28dup observations=1
warnings=Unable to tokenize: I28dup
query=BRAF T599dup gene=BRAF residue=592-604 alt=T599dup descriptor=T599dup observations=3
warnings=Unable to tokenize: T599dup
query=BRAF I592_A598dup gene=BRAF residue=592-604 alt=I592_A598dup descriptor=I592_A598dup observations=1
warnings=Unable to tokenize: I592_A598dup
query=AKT2 C60_I75dup gene=AKT2 residue=60-84 alt=C60_I75dup descriptor=C60_I75dup observations=1
warnings=Unable to tokenize: C60_I75dup
query=AKT2 R67_L78dup gene=AKT2 residue=60-84 alt=R67_L78dup descriptor=R67_L78dup observations=1
warnings=Unable to tokenize: R67_L78dup
query=AKT2 R76_I84dup gene=AKT2 residue=60-84 alt=R76_I84dup descriptor=R76_I84dup observations=1
warnings=Unable to tokenize: R76_I84dup
query=VHL E70_R79dup gene=VHL residue=70-80 alt=E70_R79dup descriptor=E70_R79dup observations=1
warnings=Unable to tokenize: E70_R79dup
query=DAXX E457dup gene=DAXX residue=457 alt=E457dup descriptor=E457dup observations=1
warnings=Unable to tokenize: E457dup
query=U2AF1 G223dup gene=U2AF1 residue=222-223 alt=G223dup descriptor=G223dup observations=1
warnings=Unable to tokenize: G223dup
query=AKT1 P68_C77dup gene=AKT1 residue=65-77 alt=P68_C77dup descriptor=P68_C77dup observations=1
warnings=Unable to tokenize: P68_C77dup
query=AKT1 T65_I75dup gene=AKT1 residue=65-77 alt=T65_I75dup descriptor=T65_I75dup observations=1
warnings=Unable to tokenize: T65_I75dup
query=FLT3 F594_D600dup gene=FLT3 residue=578-613 alt=F594_D600dup descriptor=F594_D600dup observations=5
warnings=Unable to tokenize: F594_D600dup
query=FLT3 D586_E596dup gene=FLT3 residue=578-613 alt=D586_E596dup descriptor=D586_E596dup observations=1
warnings=Unable to tokenize: D586_E596dup
query=FLT3 E598_F612dup gene=FLT3 residue=578-613 alt=E598_F612dup descriptor=E598_F612dup observations=1
warnings=Unable to tokenize: E598_F612dup
query=FLT3 M578_E598dup gene=FLT3 residue=578-613 alt=M578_E598dup descriptor=M578_E598dup observations=1
warnings=Unable to tokenize: M578_E598dup
query=FLT3 N587_D600dup gene=FLT3 residue=578-613 alt=N587_D600dup descriptor=N587_D600dup observations=1
warnings=Unable to tokenize: N587_D600dup
query=FLT3 R595_L601dup gene=FLT3 residue=578-613 alt=R595_L601dup descriptor=R595_L601dup observations=1
warnings=Unable to tokenize: R595_L601dup
query=FLT3 S584_D600dup gene=FLT3 residue=578-613 alt=S584_D600dup descriptor=S584_D600dup observations=1
warnings=Unable to tokenize: S584_D600dup
query=FLT3 S584_F605dup gene=FLT3 residue=578-613 alt=S584_F605dup descriptor=S584_F605dup observations=1
warnings=Unable to tokenize: S584_F605dup
query=FLT3 S585_F594dup gene=FLT3 residue=578-613 alt=S585_F594dup descriptor=S585_F594dup observations=1
warnings=Unable to tokenize: S585_F594dup
query=FLT3 Y597_K602dup gene=FLT3 residue=578-613 alt=Y597_K602dup descriptor=Y597_K602dup observations=1
warnings=Unable to tokenize: Y597_K602dup
query=FLT3 Y599_E604dup gene=FLT3 residue=578-613 alt=Y599_E604dup descriptor=Y599_E604dup observations=1
warnings=Unable to tokenize: Y599_E604dup
```
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