Study Sample ID Cancer Type Protein Change Annotation Functional Impact Mutation Type Variant Type Copy # COSMIC MS VS Center Chromosome Start Pos End Pos Ref Var HGVSg HGVSc Allele Freq (T) Allele Freq (N) Variant Reads Ref Reads Variant Reads (Normal) Ref Reads (Normal) # Mut in Sample Exon gnomAD ClinVar ID dbSNP Desmoplastic Melanoma (Broad Institute, Nat Genet 2015) Au1 Desmoplastic Melanoma R2363* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA www.broadinstitute.org 3 142180887 142180887 G A 3:g.142180887G>A ENST00000350721.4:c.7087C>T 1055 42/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 11CO070 Colon Adenocarcinoma R2363* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142180887 142180887 G A 3:g.142180887G>A ENST00000350721.4:c.7087C>T 9438 42/47 Hepatocellular Carcinomas (INSERM, Nat Genet 2015) BCM723T Hepatocellular Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA inserm.fr 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 498 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_95 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.12 6 45 49 389 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_2713 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.10 0.04 3 28 1 27 1847 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_2890 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.17 5 24 38 729 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) DUOAC_781 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.19 17 71 57 1744 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) DUOAC_782 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.15 10 57 27 1187 10/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) CAC_2987 Ampullary Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.24 0.02 39 125 3 119 1245 10/47 Stomach Adenocarcinoma (Pfizer and UHK, Nat Genet 2014) pfg008T Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA pfizer_uhongkong 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.30 21 49 55 1529 10/47 Stomach Adenocarcinoma (Pfizer and UHK, Nat Genet 2014) pfg068T Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA pfizer_uhongkong 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.21 27 104 107 1315 10/47 Stomach Adenocarcinoma (Pfizer and UHK, Nat Genet 2014) pfg122T Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA pfizer_uhongkong 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.22 21 74 78 1082 10/47 Stomach Adenocarcinoma (Pfizer and UHK, Nat Genet 2014) pfg127T Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA pfizer_uhongkong 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.21 21 78 98 855 10/47 Acinar Cell Carcinoma of the Pancreas (JHU, J Pathol 2014) ACINAR28 Acinar Cell Carcinoma of the Pancreas I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA John_Hopkins 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 340 10/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) s_JC_ucc_006_P Upper Tract Urothelial Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 25 SOMATIC NA MSK-IMPACT468 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.41 0.03 123 180 8 230 69 10/47 Gastric Cancer (OncoSG, 2018) GIS003-apollo24 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.21 14 52 1271 10/47 Gastric Cancer (OncoSG, 2018) GIS003-apollo9 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.40 17 26 2548 10/47 Gastric Cancer (OncoSG, 2018) GIS003-HK-pfg068 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL gain 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.30 38 88 1383 10/47 Gastric Cancer (OncoSG, 2018) GIS003-HK-pfg122 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.31 28 62 1117 10/47 Gastric Cancer (OncoSG, 2018) GIS003-HK-pfg127 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.29 28 70 864 10/47 Gastric Cancer (OncoSG, 2018) GIS003-HK-pfg143 Stomach Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.24 22 68 880 10/47 Breast Invasive Carcinoma (British Columbia, Nature 2012) SA218 Invasive Breast Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 126 10/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-EA-A410-01 Cervical Squamous Cell Carcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 25 . . . 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 0.44 8 10 21 1466 10/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 05CO050 Colon Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 25 NA NA NA 3 142274740 142274740 T - 3:g.142274740del ENST00000350721.4:c.2320del 2010 10/47 Kidney Chromophobe (TCGA, PanCancer Atlas) TCGA-KN-8428-01 Chromophobe Renal Cell Carcinoma X844_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain . . . 3 142272665 142272665 A G 3:g.142272665A>G ENST00000350721.4:c.2532+2T>C 0.20 28 114 126 672 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4004 Breast Invasive Ductal Carcinoma X878_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain NA NA METABRIC 3 142272241 142272241 C T 3:g.142272241C>T ENST00000350721.4:c.2634-1G>A 8 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_719 Ampullary Carcinoma I774Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS 25 Somatic Valid Baylor College of Medicine 3 142274739 142274740 - T 3:g.142274739_142274740insT ENST00000350721.4:c.2320dup 0.13 0.02 5 34 1 63 343 10/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE098-T1 Skin Cancer, Non-Melanoma I774Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS 25 NA NA NA 3 142274739 142274740 - T 3:g.142274739_142274740insT ENST00000350721.4:c.2320dup 0.12 16 114 79 10/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A1DM-01 Uterine Endometrioid Carcinoma I774Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid 25 . . . 3 142274739 142274740 - T 3:g.142274739_142274740insT ENST00000350721.4:c.2320dup 0.45 13 16 51 354 10/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A3G9-01 Uterine Endometrioid Carcinoma I774Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid 25 . . . 3 142274739 142274740 - T 3:g.142274739_142274740insT ENST00000350721.4:c.2320dup 0.38 12 20 28 658 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007739-T01-IM5 Colorectal Adenocarcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 NA NA NA 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.12 142 1006 36 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011324-T01-IM5 Colon Adenocarcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 NA NA NA 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.16 115 621 62 32/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0VQ-01 Uterine Endometrioid Carcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 . . . 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.29 21 52 96 367 32/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-DI-A0WH-01 Uterine Endometrioid Carcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 . . . 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.23 46 155 215 587 32/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-4292-01 Stomach Adenocarcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 . . . 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.14 4 25 21 1300 32/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8361-01 Stomach Adenocarcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL gain 2 . . . 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.18 12 55 46 1424 32/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CG-4442-01 Intestinal Type Stomach Adenocarcinoma R1814Efs*10 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 2 . . . 3 142217557 142217557 T - 3:g.142217557del ENST00000350721.4:c.5440del 0.36 42 75 64 1359 32/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-NYU160 Lung Adenocarcinoma R1653* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142226847 142226847 G A 3:g.142226847G>A ENST00000350721.4:c.4957C>T 234 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004910-T01-IM5 Prostate Adenocarcinoma F1134Lfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 1 NA NA NA 3 142261555 142261555 A - 3:g.142261555del ENST00000350721.4:c.3402del 0.27 165 439 42 17/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_60 Colorectal Adenocarcinoma F1134Lfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 1 NA NA dfci.harvard.edu 3 142261555 142261555 A - 3:g.142261555del ENST00000350721.4:c.3402del 1257 17/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-4201-01 Stomach Adenocarcinoma F1134Lfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 1 . . . 3 142261555 142261555 A - 3:g.142261555del ENST00000350721.4:c.3402del 0.21 9 33 42 1350 17/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-7707-01 Stomach Adenocarcinoma F1134Lfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid 1 . . . 3 142261555 142261555 A - 3:g.142261555del ENST00000350721.4:c.3402del 0.11 7 55 47 1264 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004865-T01-IM5 Colon Adenocarcinoma X98_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142281952 142281952 C A 3:g.142281952C>A ENST00000350721.4:c.293-1G>T 0.17 50 238 146 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010499-T01-IM5 Cancer of Unknown Primary X98_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142281952 142281952 C A 3:g.142281952C>A ENST00000350721.4:c.293-1G>T 0.16 58 315 156 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8680-01 Tubular Stomach Adenocarcinoma X98_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142281952 142281952 C A 3:g.142281952C>A ENST00000350721.4:c.293-1G>T 0.33 40 81 134 5414 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CG-4305-01 Stomach Adenocarcinoma V543Cfs*9 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL gain . . . 3 142278199 142278199 T - 3:g.142278199del ENST00000350721.4:c.1626del 0.10 13 114 71 1092 7/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CG-5721-01 Intestinal Type Stomach Adenocarcinoma L2139* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142188315 142188315 A - 3:g.142188315del ENST00000350721.4:c.6416del 0.15 29 166 247 3725 38/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-E00918 Lung Adenocarcinoma X1967_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid Unknown NA broad.mit.edu 3 142212154 142212154 C G 3:g.142212154C>G ENST00000350721.4:c.5899-1G>C 420 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-F00089 Lung Adenocarcinoma R109Afs*17 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid 1 Unknown NA broad.mit.edu 3 142281920 142281921 - A 3:g.142281920_142281921insA ENST00000350721.4:c.323dup 294 4/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-F00162 Lung Adenocarcinoma Q757* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain 1 Unknown NA broad.mit.edu 3 142274791 142274791 G A 3:g.142274791G>A ENST00000350721.4:c.2269C>T 600 10/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-YINHD Lung Adenocarcinoma X1733_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid Unknown NA broad.mit.edu 3 142222296 142222296 C A 3:g.142222296C>A ENST00000350721.4:c.5197-1G>T 2733 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-05-4398-01 Lung Adenocarcinoma X1315_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142253921 142253921 C A 3:g.142253921C>A ENST00000350721.4:c.3945+1G>T 0.28 12 31 54 665 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-75-6214-01 Lung Adenocarcinoma S508Lfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL gain . . . 3 142279124 142279124 A - 3:g.142279124del ENST00000350721.4:c.1522del 0.28 39 102 46 639 6/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A051-01 Uterine Endometrioid Carcinoma C347* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142281203 142281203 G T 3:g.142281203G>T ENST00000350721.4:c.1041C>A 0.34 41 80 182 8312 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A0LM-01 Uterine Endometrioid Carcinoma E1229* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142257364 142257364 C A 3:g.142257364C>A ENST00000350721.4:c.3685G>T 0.27 18 49 349 13187 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011540-T01-IM5 Small Bowel Cancer R1503* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 NA NA NA 3 142232477 142232477 G A 3:g.142232477G>A ENST00000350721.4:c.4507C>T 0.17 81 402 40 26/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A0J0-01 Uterine Endometrioid Carcinoma R1503* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142232477 142232477 G A 3:g.142232477G>A ENST00000350721.4:c.4507C>T 0.34 25 49 172 7790 26/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-DU-6392-01 Astrocytoma R2598* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142168414 142168414 G A 3:g.142168414G>A ENST00000350721.4:c.7792C>T 0.35 18 33 54 10863 47/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A0J1-01 Uterine Endometrioid Carcinoma R2598* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142168414 142168414 G A 3:g.142168414G>A ENST00000350721.4:c.7792C>T 0.29 41 98 98 5126 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000919-T01-IM3 Cutaneous Squamous Cell Carcinoma R1886* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 NA NA NA 3 142215937 142215937 G A 3:g.142215937G>A ENST00000350721.4:c.5656C>T 0.11 96 741 44 33/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BS-A0UV-01 Uterine Endometrioid Carcinoma R1886* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain 1 . . . 3 142215937 142215937 G A 3:g.142215937G>A ENST00000350721.4:c.5656C>T 0.30 44 104 223 8968 33/47 Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-B0-5107-01 Renal Clear Cell Carcinoma Y1107Ifs*12 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142266605 142266605 A - 3:g.142266605del ENST00000350721.4:c.3319del 0.23 45 155 134 52 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004783-T01-IM5 Rectal Adenocarcinoma S2207Ifs*15 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA NA 3 142186844 142186845 - T 3:g.142186844_142186845insT ENST00000350721.4:c.6618dup 0.16 84 454 48 39/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-50-8457-01 Lung Adenocarcinoma K343* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142281217 142281217 T A 3:g.142281217T>A ENST00000350721.4:c.1027A>T 0.31 26 58 101 53 4/47 Prostate Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-ZG-A9KY-01 Prostate Adenocarcinoma E833* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142272702 142272702 C A 3:g.142272702C>A ENST00000350721.4:c.2497G>T 0.17 8 39 62 55 11/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-55-8620-01 Lung Adenocarcinoma E833* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142272702 142272702 C A 3:g.142272702C>A ENST00000350721.4:c.2497G>T 0.37 34 57 81 434 11/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-56-A4ZK-01 Lung Squamous Cell Carcinoma S1616* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP amp . . . 3 142231107 142231107 G C 3:g.142231107G>C ENST00000350721.4:c.4847C>G 0.14 17 103 98 206 27/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-85-8071-01 Lung Squamous Cell Carcinoma I97* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142284965 142284966 AT - 3:g.142284965_142284966del ENST00000350721.4:c.289_290del 0.28 35 91 114 331 3/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-NC-A5HT-01 Lung Squamous Cell Carcinoma X2587_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142171968 142171968 A C 3:g.142171968A>C ENST00000350721.4:c.7761+2T>G 0.30 15 35 67 303 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-NJ-A4YP-01 Lung Adenocarcinoma Q2085* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142188994 142188994 G A 3:g.142188994G>A ENST00000350721.4:c.6253C>T 0.21 7 26 60 468 37/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000768-T01-IM3 Oropharynx Squamous Cell Carcinoma N1135* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA NA 3 142261554 142261555 - A 3:g.142261554_142261555insA ENST00000350721.4:c.3402dup 0.23 161 550 4 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001229-T01-IM3 Cutaneous Squamous Cell Carcinoma L728Ffs*7 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA NA 3 142274876 142274877 - A 3:g.142274876_142274877insA ENST00000350721.4:c.2183dup 0.10 31 281 64 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003080-T01-IM5 Head and Neck Squamous Cell Carcinoma of Unknown Primary E409* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142280209 142280209 C A 3:g.142280209C>A ENST00000350721.4:c.1225G>T 0.70 942 400 9 5/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003104-T01-IM5 Cutaneous Squamous Cell Carcinoma W2640* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142168287 142168287 C T 3:g.142168287C>T ENST00000350721.4:c.7919G>A 0.23 130 440 57 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003711-T01-IM5 Oropharynx Squamous Cell Carcinoma X2347_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142183938 142183938 C A 3:g.142183938C>A ENST00000350721.4:c.7041+1G>T 0.14 91 539 7 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-A2-A25D-01 Breast Invasive Lobular Carcinoma X1461_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.63;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain . . . 3 142234359 142234359 T C 3:g.142234359T>C ENST00000350721.4:c.4383-2A>G 0.22 13 47 45 50 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-AN-A0AK-01 Breast Invasive Ductal Carcinoma E2354Vfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142180912 142180913 CT - 3:g.142180912_142180913del ENST00000350721.4:c.7061_7062del 0.24 74 229 228 1122 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010649-T01-IM5 Cutaneous Squamous Cell Carcinoma Q1073* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 NA NA NA 3 142266707 142266707 G A 3:g.142266707G>A ENST00000350721.4:c.3217C>T 0.15 143 808 104 16/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T3 Skin Cancer, Non-Melanoma Q1073* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 1 NA NA NA 3 142266707 142266707 G A 3:g.142266707G>A ENST00000350721.4:c.3217C>T 0.36 72 126 69 16/47 Thyroid Carcinoma (TCGA, PanCancer Atlas) TCGA-DJ-A4V2-01 Papillary Thyroid Cancer Q1073* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142266707 142266707 G A 3:g.142266707G>A ENST00000350721.4:c.3217C>T 0.31 16 36 24 9 16/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_1240 Colorectal Adenocarcinoma R635* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA dfci.harvard.edu 3 142275400 142275400 G A 3:g.142275400G>A ENST00000350721.4:c.1903C>T 117 9/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G2-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma R635* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142275400 142275400 G A 3:g.142275400G>A ENST00000350721.4:c.1903C>T 0.08 16 187 177 25711 9/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IN-A6RP-01 Stomach Adenocarcinoma R635* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142275400 142275400 G A 3:g.142275400G>A ENST00000350721.4:c.1903C>T 0.28 22 58 123 150 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001808-T01-IM3 Colon Adenocarcinoma E148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281802 142281802 C A 3:g.142281802C>A ENST00000350721.4:c.442G>T 0.12 174 1270 159 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010499-T01-IM5 Cancer of Unknown Primary E148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281802 142281802 C A 3:g.142281802C>A ENST00000350721.4:c.442G>T 0.16 155 816 156 4/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_578 Colorectal Adenocarcinoma E148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA dfci.harvard.edu 3 142281802 142281802 C A 3:g.142281802C>A ENST00000350721.4:c.442G>T 3908 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma E148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142281802 142281802 C A 3:g.142281802C>A ENST00000350721.4:c.442G>T 0.46 25 29 30 10909 4/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-L5-A8NQ-01 Esophageal Squamous Cell Carcinoma E1788* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142218487 142218487 C A 3:g.142218487C>A ENST00000350721.4:c.5362G>T 0.07 5 66 91 209 31/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-LN-A8HZ-01 Esophageal Squamous Cell Carcinoma S1115Ifs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS amp . . . 3 142266582 142266583 - A 3:g.142266582_142266583insA ENST00000350721.4:c.3341dup 0.22 27 96 100 96 16/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-DF-A2KN-01 Uterine Endometrioid Carcinoma K2206Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142186845 142186845 T - 3:g.142186845del ENST00000350721.4:c.6618del 0.24 12 38 26 4342 39/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-VQ-A8P2-01 Mucinous Stomach Adenocarcinoma K2206Nfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142186845 142186845 T - 3:g.142186845del ENST00000350721.4:c.6618del 0.32 53 113 104 6365 39/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CD-A4MI-01 Stomach Adenocarcinoma E1356Gfs*20 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid . . . 3 142242920 142242921 - C 3:g.142242920_142242921insC ENST00000350721.4:c.4066dup 0.18 35 160 138 918 22/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-HF-A5NB-01 Mucinous Stomach Adenocarcinoma E1356Gfs*20 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid . . . 3 142242920 142242921 - C 3:g.142242920_142242921insC ENST00000350721.4:c.4066dup 0.36 70 126 163 1308 22/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-6802-01 Stomach Adenocarcinoma E1027Dfs*21 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL gain . . . 3 142268410 142268411 TC - 3:g.142268410_142268411del ENST00000350721.4:c.3081_3082del 0.11 7 55 33 426 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007548-T01-IM5 Colon Adenocarcinoma X578_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.52;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142277619 142277619 C T 3:g.142277619C>T ENST00000350721.4:c.1733-1G>A 0.20 97 383 8 Sarcoma (TCGA, PanCancer Atlas) TCGA-3B-A9HZ-01 Leiomyosarcoma X578_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.52;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142277619 142277619 C T 3:g.142277619C>T ENST00000350721.4:c.1733-1G>A 0.33 41 83 108 26 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3984-01 Colon Adenocarcinoma E1061* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142266743 142266743 C A 3:g.142266743C>A ENST00000350721.4:c.3181G>T 0.24 32 104 150 5116 16/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-A010-01 Colon Adenocarcinoma E91* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142284984 142284984 C A 3:g.142284984C>A ENST00000350721.4:c.271G>T 0.37 111 189 89 7496 3/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_2713 Ampullary Carcinoma R1814Kfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS 2 Somatic Valid Baylor College of Medicine 3 142217556 142217557 - T 3:g.142217556_142217557insT ENST00000350721.4:c.5440dup 0.14 27 163 199 1847 32/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma R1814Kfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid 2 . . . 3 142217556 142217557 - T 3:g.142217556_142217557insT ENST00000350721.4:c.5440dup 0.24 9 29 42 9652 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006269-T01-IM5 Uterine Clear Cell Carcinoma F270Sfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142281435 142281435 A - 3:g.142281435del ENST00000350721.4:c.809del 0.09 58 557 75 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A0ZS-01 Uterine Endometrioid Carcinoma F270Sfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142281435 142281435 A - 3:g.142281435del ENST00000350721.4:c.809del 0.26 76 212 157 386 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A0J1-01 Uterine Endometrioid Carcinoma F222Lfs*11 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142281578 142281578 A - 3:g.142281578del ENST00000350721.4:c.666del 0.27 37 99 72 5126 4/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-A4IY-01 Stomach Adenocarcinoma X19_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region SNP shallowdel . . . 3 142297490 142297490 G A 3:g.142297490G>A ENST00000350721.4:c.57C>T 0.20 6 24 26 141 1/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003553-T01-IM5 Lung Adenocarcinoma I1014Sfs*12 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142268452 142268453 TG - 3:g.142268452_142268453del ENST00000350721.4:c.3039_3040del 0.12 57 419 31 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006960-T01-IM5 Colorectal Adenocarcinoma H2277Qfs*38 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142185232 142185232 A - 3:g.142185232del ENST00000350721.4:c.6831del 0.34 341 664 351 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005326-T01-IM5 Colon Adenocarcinoma F1091Lfs*28 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142266651 142266651 A - 3:g.142266651del ENST00000350721.4:c.3273del 0.24 238 754 82 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000149-T01-IM3 Lung Adenocarcinoma G1795Efs*29 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142217613 142217613 C - 3:g.142217613del ENST00000350721.4:c.5384del 0.25 210 623 10 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000149-T02-IM3 Lung Adenocarcinoma G1795Efs*29 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142217613 142217613 C - 3:g.142217613del ENST00000350721.4:c.5384del 0.31 70 158 5 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003209-T01-IM5 Colon Adenocarcinoma L1255Yfs*7 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142255005 142255005 A - 3:g.142255005del ENST00000350721.4:c.3764del 0.15 73 430 80 20/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EY-A1GK-01 Uterine Endometrioid Carcinoma L1255Yfs*7 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142255005 142255005 A - 3:g.142255005del ENST00000350721.4:c.3764del 0.10 5 45 57 840 20/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004076-T01-IM5 Esophageal Adenocarcinoma R1951* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142215250 142215250 G A 3:g.142215250G>A ENST00000350721.4:c.5851C>T 0.17 111 552 53 34/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3980-01 Colon Adenocarcinoma R1951* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP . . . 3 142215250 142215250 G A 3:g.142215250G>A ENST00000350721.4:c.5851C>T 0.43 114 152 510 96 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000602-T01-IM3 Lung Adenocarcinoma X1242_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.595;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142255044 142255044 C A 3:g.142255044C>A ENST00000350721.4:c.3726-1G>T 0.16 79 408 20 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004327-T01-IM5 Lung Adenocarcinoma C790Vfs*13 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142272831 142272831 A - 3:g.142272831del ENST00000350721.4:c.2368del 0.10 27 242 20 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003196-T01-IM5 Lung Adenocarcinoma X2587_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142171969 142171969 C A 3:g.142171969C>A ENST00000350721.4:c.7761+1G>T 0.07 56 697 5 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004865-T01-IM5 Colon Adenocarcinoma E254* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281484 142281484 C A 3:g.142281484C>A ENST00000350721.4:c.760G>T 0.27 202 552 146 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011357-T01-IM5 Colon Adenocarcinoma R2606* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142168390 142168390 G A 3:g.142168390G>A ENST00000350721.4:c.7816C>T 0.07 53 747 206 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000732-T01-IM3 Lung Adenocarcinoma L318* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281291 142281291 A C 3:g.142281291A>C ENST00000350721.4:c.953T>G 0.10 54 466 2 4/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-AN-A046-01 Breast Invasive Ductal Carcinoma R1368* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142242885 142242885 G A 3:g.142242885G>A ENST00000350721.4:c.4102C>T 0.14 38 227 279 5392 22/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-5416-01 Glioblastoma Multiforme R1368* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain 1 . . . 3 142242885 142242885 G A 3:g.142242885G>A ENST00000350721.4:c.4102C>T 0.47 143 164 282 12177 22/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) NR8815_T Cutaneous Melanoma R2533* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 2 NA NA NA 3 142176504 142176504 G A 3:g.142176504G>A ENST00000350721.4:c.7597C>T 0.37 53 91 1692 45/47 Melanoma (MSKCC, NEJM 2014) NR8815 Cutaneous Melanoma R2533* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 2 Somatic Untested MSKCC 3 142176504 142176504 G A 3:g.142176504G>A ENST00000350721.4:c.7597C>T 0.34 55 109 122 1663 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T2 Skin Cancer, Non-Melanoma R2533* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 2 NA NA NA 3 142176504 142176504 G A 3:g.142176504G>A ENST00000350721.4:c.7597C>T 0.07 11 150 130 45/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A05N-01 Uterine Endometrioid Carcinoma X1678_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142224146 142224146 C T 3:g.142224146C>T ENST00000350721.4:c.5032-1G>A 0.40 136 207 228 257 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-MI-A75G-01 Hepatocellular Carcinoma X1794_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.39;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain . . . 3 142217617 142217617 C A 3:g.142217617C>A ENST00000350721.4:c.5381-1G>T 0.29 39 96 106 225 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AADC-01 Hepatocellular Carcinoma Y2084Lfs*13 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid . . . 3 142188996 142188997 - A 3:g.142188996_142188997insA ENST00000350721.4:c.6250dup 0.21 26 100 84 81 37/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004865-T01-IM5 Colon Adenocarcinoma X1678_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142224146 142224146 C A 3:g.142224146C>A ENST00000350721.4:c.5032-1G>T 0.25 139 417 146 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3235 Colorectal Adenocarcinoma X1678_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA dfci.harvard.edu 3 142224146 142224146 C A 3:g.142224146C>A ENST00000350721.4:c.5032-1G>T 2952 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006697-T01-IM5 Bladder Urothelial Carcinoma S1660* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142226825 142226825 G T 3:g.142226825G>T ENST00000350721.4:c.4979C>A 0.40 231 343 7 28/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-KQ-A41N-01 Bladder Urothelial Carcinoma S1660* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142226825 142226825 G T 3:g.142226825G>T ENST00000350721.4:c.4979C>A 0.13 4 28 36 2528 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012320-T01-IM5 Bladder Urothelial Carcinoma Q2173* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142188214 142188214 G A 3:g.142188214G>A ENST00000350721.4:c.6517C>T 0.16 71 377 6 38/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-14-1794-01 Glioblastoma Multiforme Q2173* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142188214 142188214 G A 3:g.142188214G>A ENST00000350721.4:c.6517C>T 0.05 12 222 414 196 38/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-UY-A78K-01 Bladder Urothelial Carcinoma W1196* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142257461 142257461 C T 3:g.142257461C>T ENST00000350721.4:c.3588G>A 0.33 39 80 78 771 19/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-HR-A2OG-06 Cutaneous Melanoma Y1790* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain 1 . . . 3 142218479 142218479 A T 3:g.142218479A>T ENST00000350721.4:c.5370T>A 0.34 50 99 66 530 31/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A29V-06 Cutaneous Melanoma R1846* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142217461 142217461 G A 3:g.142217461G>A ENST00000350721.4:c.5536C>T 0.21 6 22 28 1012 32/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_705 Diffuse Large B-Cell Lymphoma, NOS R2148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA Duke University 3 142188289 142188289 G A 3:g.142188289G>A ENST00000350721.4:c.6442C>T 12 38/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-AA74-01 Bladder Urothelial Carcinoma R2148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142188289 142188289 G A 3:g.142188289G>A ENST00000350721.4:c.6442C>T 0.13 12 77 78 219 38/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AAEH-01 Hepatocellular Carcinoma X578_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142278092 142278092 C A 3:g.142278092C>A ENST00000350721.4:c.1732+1G>T 0.34 56 109 135 82 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) PRAD-01115263-Tumor-SM-6WZF9 Prostate Adenocarcinoma S87Efs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid Somatic Untested broad.mit.edu 3 142284997 142284998 - A 3:g.142284997_142284998insA ENST00000350721.4:c.257dup 121 33 3/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) CR6161_T Cutaneous Melanoma R960* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142269072 142269072 G A 3:g.142269072G>A ENST00000350721.4:c.2878C>T 0.22 42 145 836 14/47 Melanoma (MSKCC, NEJM 2014) CR6161 Cutaneous Melanoma R960* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain Somatic Untested MSKCC 3 142269072 142269072 G A 3:g.142269072G>A ENST00000350721.4:c.2878C>T 0.21 46 177 155 907 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A06F-01 Uterine Endometrioid Carcinoma R960* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142269072 142269072 G A 3:g.142269072G>A ENST00000350721.4:c.2878C>T 0.07 18 236 223 7282 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001488-T01-IM3 Breast Invasive Cancer, NOS E1326* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142243011 142243011 C A 3:g.142243011C>A ENST00000350721.4:c.3976G>T 0.19 100 434 24 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002188-T01-IM3 Breast Invasive Ductal Carcinoma L1537* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142232374 142232374 A T 3:g.142232374A>T ENST00000350721.4:c.4610T>A 0.20 216 885 4 26/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009344-T01-IM5 Invasive Breast Carcinoma E386* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281088 142281088 C A 3:g.142281088C>A ENST00000350721.4:c.1156G>T 0.15 119 653 7 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009602-T01-IM5 Invasive Breast Carcinoma E1659* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142226829 142226829 C A 3:g.142226829C>A ENST00000350721.4:c.4975G>T 0.27 183 496 46 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005725-T01-IM5 Melanoma of Unknown Primary W1443* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142238564 142238564 C T 3:g.142238564C>T ENST00000350721.4:c.4329G>A 0.24 271 859 27 24/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008553-T01-IM5 Lung Adenocarcinoma W102* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142281939 142281939 C T 3:g.142281939C>T ENST00000350721.4:c.305G>A 0.09 36 357 9 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009499-T01-IM5 Anaplastic Astrocytoma Q996* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142268506 142268506 G A 3:g.142268506G>A ENST00000350721.4:c.2986C>T 0.41 217 312 52 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010670-T01-IM5 Melanoma of Unknown Primary X878_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site DNP diploid NA NA NA 3 142272240 142272241 CC TT 3:g.142272240_142272241delinsTT ENST00000350721.4:c.2634-1_2634delinsAA 0.33 155 310 11 13/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_1202 Colorectal Adenocarcinoma S1038Lfs*12 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL NA NA dfci.harvard.edu 3 142268380 142268380 A - 3:g.142268380del ENST00000350721.4:c.3112del 1080 15/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) AMPAC_2264 Ampullary Carcinoma I774Nfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 Somatic Valid Baylor College of Medicine 3 142274739 142274739 A - 3:g.142274739del ENST00000350721.4:c.2321del 0.29 17 41 38 1509 10/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) BLCA-012-Tumor-SM-CUCGM Bladder Urothelial Carcinoma Q1108* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142266602 142266602 G A 3:g.142266602G>A ENST00000350721.4:c.3322C>T 0.23 44 146 1029 16/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) LUAD-BS-12-R10269-Tumor-SM-9J2XO Lung Adenocarcinoma X1763_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.875;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA NA 3 142218561 142218561 C A 3:g.142218561C>A ENST00000350721.4:c.5289-1G>T 0.30 34 80 343 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) SD5038_T Cutaneous Melanoma X1423_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA NA 3 142238627 142238627 C T 3:g.142238627C>T ENST00000350721.4:c.4267-1G>A 0.14 16 97 278 Melanoma (MSKCC, NEJM 2014) SD5038 Cutaneous Melanoma X1423_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain Somatic Untested MSKCC 3 142238627 142238627 C T 3:g.142238627C>T ENST00000350721.4:c.4267-1G>A 0.15 18 102 107 247 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_76_Pre Melanoma X1274_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA broad.mit.edu 3 142254048 142254048 C T 3:g.142254048C>T ENST00000350721.4:c.3820-1G>A 0.63 41 24 1874 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_41_Post Melanoma X1913_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA broad.mit.edu 3 142215363 142215363 C T 3:g.142215363C>T ENST00000350721.4:c.5739-1G>A 0.06 17 281 5838 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_45_Pre Melanoma P1259Rfs*18 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL NA NA broad.mit.edu 3 142254993 142254994 GG - 3:g.142254993_142254994del ENST00000350721.4:c.3775_3776del 0.03 8 259 632 20/47 Multiple Myeloma (Broad, Cancer Cell 2014) MM-0038 Plasma Cell Myeloma Q474* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA broad.mit.edu 3 142279226 142279226 G A 3:g.142279226G>A ENST00000350721.4:c.1420C>T 48 6/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S03-45671-TP-S05-31806-NT Cutaneous Squamous Cell Carcinoma Q1561* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP Somatic Untested broad.mit.edu 3 142231273 142231273 G A 3:g.142231273G>A ENST00000350721.4:c.4681C>T 229 27/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-62-T Cutaneous Squamous Cell Carcinoma X2398_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP Somatic Untested hgsc.bcm.edu 3 142180780 142180780 A T 3:g.142180780A>T ENST00000350721.4:c.7192+2T>A 0.16 24 129 155 2004 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-37-T Cutaneous Squamous Cell Carcinoma L1021Mfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL Somatic Untested hgsc.bcm.edu 3 142268428 142268431 TTAA - 3:g.142268428_142268431del ENST00000350721.4:c.3061_3064del 0.06 23 331 349 943 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001198-T01-IM3 Cutaneous Squamous Cell Carcinoma X1913_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site DNP diploid NA NA NA 3 142215854 142215855 CC TT 3:g.142215854_142215855delinsTT ENST00000350721.4:c.5738_5738+1delinsAA 0.26 150 430 53 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002671-T01-IM3 Colon Adenocarcinoma S1038Ffs*11 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA NA 3 142268379 142268380 - A 3:g.142268379_142268380insA ENST00000350721.4:c.3112dup 0.27 156 432 70 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003364-T01-IM5 Esophageal Squamous Cell Carcinoma E1776Qfs*47 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142218520 142218523 CTTC - 3:g.142218520_142218523del ENST00000350721.4:c.5326_5329del 0.08 67 786 7 31/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006934-T01-IM5 Urethral Urothelial Carcinoma X1237_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site DEL diploid NA NA NA 3 142257317 142257340 ACAATACCTGTTTTCAATTATGAG - 3:g.142257317_142257340del ENST00000350721.4:c.3709_3725+7del 0.18 103 466 5 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007029-T01-IM5 Lung Adenocarcinoma I933Sfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142272078 142272078 G - 3:g.142272078del ENST00000350721.4:c.2796del 0.10 46 417 14 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008486-T01-IM5 Gastrointestinal Stromal Tumor L108Sfs*14 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142281913 142281923 CAATCCGCAGA - 3:g.142281913_142281923del ENST00000350721.4:c.321_331del 0.33 83 171 3 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002748-T02-IM5 Bladder Urothelial Carcinoma X781_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142274718 142274718 C G 3:g.142274718C>G ENST00000350721.4:c.2341+1G>C 0.19 69 299 18 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009295-T01-IM5 Large Cell Neuroendocrine Carcinoma W2177* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 NA NA NA 3 142188201 142188201 C T 3:g.142188201C>T ENST00000350721.4:c.6530G>A 0.13 164 1097 9 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010034-T01-IM5 Prostate Adenocarcinoma F2243Lfs*8 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142185334 142185334 A - 3:g.142185334del ENST00000350721.4:c.6729del 0.15 62 363 24 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010066-T01-IM5 Small Cell Lung Cancer A747Pfs*12 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA NA 3 142274822 142274822 T - 3:g.142274822del ENST00000350721.4:c.2238del 0.28 443 1124 17 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010087-T01-IM5 Lung Adenocarcinoma E1388* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142241674 142241674 C A 3:g.142241674C>A ENST00000350721.4:c.4162G>T 0.45 342 414 25 23/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011333-T01-IM5 Lung Adenocarcinoma X1502_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA NA 3 142232481 142232481 C A 3:g.142232481C>A ENST00000350721.4:c.4504-1G>T 0.14 89 540 20 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012157-T01-IM5 Head and Neck Squamous Cell Carcinoma W2450* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142178069 142178069 C T 3:g.142178069C>T ENST00000350721.4:c.7349G>A 0.27 125 341 22 43/47 Pancreatic Cancer (UTSW, Nat Commun 2015) PDA_092 Pancreatic Adenocarcinoma W1800* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP shallowdel NA Valid UT Southwestern 3 142217598 142217598 C T 3:g.142217598C>T ENST00000350721.4:c.5399G>A 32 32/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-1 Cutaneous Melanoma Q412* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA broad.mit.edu 3 142280200 142280200 G A 3:g.142280200G>A ENST00000350721.4:c.1234C>T 4870 5/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-32 Cutaneous Melanoma X1733_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA broad.mit.edu 3 142222293 142222293 G A 3:g.142222293G>A ENST00000350721.4:c.5199C>T 613 30/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS034-T1 Skin Cancer, Non-Melanoma R2425* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142178145 142178145 G A 3:g.142178145G>A ENST00000350721.4:c.7273C>T 0.25 80 246 3042 43/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1109 Merkel Cell Carcinoma R2425* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA University of Michigan 3 142178145 142178145 G A 3:g.142178145G>A ENST00000350721.4:c.7273C>T 0.42 52 72 85 1137 43/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT050-T1 Skin Cancer, Non-Melanoma X1733_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA NA 3 142222293 142222293 G A 3:g.142222293G>A ENST00000350721.4:c.5199C>T 0.24 7 22 921 30/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CA-6718-01 Colon Adenocarcinoma E706* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142274944 142274944 C A 3:g.142274944C>A ENST00000350721.4:c.2116G>T 0.29 48 119 176 3205 10/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EY-A549-01 Uterine Endometrioid Carcinoma K2024Nfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142211980 142211980 T - 3:g.142211980del ENST00000350721.4:c.6072del 0.32 18 39 47 1319 35/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587222 Colorectal Adenocarcinoma E293* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 1 NA NA Genentech 3 142281367 142281367 C A 3:g.142281367C>A ENST00000350721.4:c.877G>T 2311 4/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587228 Colorectal Adenocarcinoma I774Yfs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL 25 NA NA NA 3 142274741 142274741 T - 3:g.142274741del ENST00000350721.4:c.2320del 1292 10/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS046-T1 Skin Cancer, Non-Melanoma E864* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142272525 142272525 C A 3:g.142272525C>A ENST00000350721.4:c.2590G>T 0.06 6 101 837 12/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE016-T1 Skin Cancer, Non-Melanoma Q2546* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142176465 142176465 G A 3:g.142176465G>A ENST00000350721.4:c.7636C>T 0.04 28 652 196 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-SE001-T1 Skin Cancer, Non-Melanoma Q2546* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142176465 142176465 G A 3:g.142176465G>A ENST00000350721.4:c.7636C>T 0.05 45 810 100 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE020-T1 Skin Cancer, Non-Melanoma Q967* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142269051 142269051 G A 3:g.142269051G>A ENST00000350721.4:c.2899C>T 0.10 35 317 50 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE076-T2 Skin Cancer, Non-Melanoma X693_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region DNP NA NA NA 3 142274985 142274986 GG AA 3:g.142274985_142274986delinsAA ENST00000350721.4:c.2079-5_2079-4delinsTT 0.10 7 65 85 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE082-T1 Skin Cancer, Non-Melanoma X2450_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA NA 3 142177956 142177956 A G 3:g.142177956A>G ENST00000350721.4:c.7350-3T>C 0.51 80 76 35 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE107-T1 Skin Cancer, Non-Melanoma W598* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142277557 142277557 C T 3:g.142277557C>T ENST00000350721.4:c.1794G>A 0.35 75 141 50 8/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS066-T1 Skin Cancer, Non-Melanoma X2587_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA NA 3 142171970 142171970 C T 3:g.142171970C>T ENST00000350721.4:c.7761G>A 0.22 53 188 89 46/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-WS002-T1 Skin Cancer, Non-Melanoma X2347_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA NA 3 142183935 142183935 C T 3:g.142183935C>T ENST00000350721.4:c.7041+4G>A 0.08 11 126 79 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T14 Skin Cancer, Non-Melanoma X993_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Region SNP NA NA NA 3 142268518 142268518 G A 3:g.142268518G>A ENST00000350721.4:c.2977-3C>T 0.52 16 15 100 Metastatic Melanoma (MSKCC, JCO Precis Oncol 2017) DS-vem-049-T Cutaneous Melanoma L149* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA BergerLab 3 142281798 142281798 A C 3:g.142281798A>C ENST00000350721.4:c.446T>G 9 4/47 Glioma (MSK, Nature 2019) Patient-33-T Glioblastoma Multiforme Q1070* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142266716 142266716 G A 3:g.142266716G>A ENST00000350721.4:c.3208C>T 0.14 81 517 658 55 16/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0089-R1 Lung Squamous Cell Carcinoma E314* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142281304 142281304 C A 3:g.142281304C>A ENST00000350721.4:c.940G>T 0.08 46 505 474 4/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0089-R2 Lung Squamous Cell Carcinoma E314* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA NA 3 142281304 142281304 C A 3:g.142281304C>A ENST00000350721.4:c.940G>T 0.07 38 541 461 4/47 Chronic Lymphocytic Leukemia (Broad, Nature 2015) CLL-GCLL-0052-Tumor-SM-41JNG Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma X1501_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA broad.mit.edu 3 142234235 142234235 A G 3:g.142234235A>G ENST00000350721.4:c.4503+2T>C 0.28 21 53 25 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) BGI-EX09 Lung Adenocarcinoma E1329* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP shallowdel NA NA NA 3 142243002 142243002 C A 3:g.142243002C>A ENST00000350721.4:c.3985G>T 0.17 24 114 344 22/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) A156 Lung Adenocarcinoma E7Dfs*21 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS gain NA NA NA 3 142297526 142297527 - G 3:g.142297526_142297527insG ENST00000350721.4:c.20_21insC 0.45 42 52 50 1/47 Gastric Cancer (OncoSG, 2018) GIS003-apollo16 Stomach Adenocarcinoma Q39* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA NA 3 142286941 142286941 G A 3:g.142286941G>A ENST00000350721.4:c.115C>T 0.30 16 38 1145 2/47 Gastric Cancer (OncoSG, 2018) GIS003-HK-pfg068 Stomach Adenocarcinoma X2230_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region INS gain NA NA NA 3 142185378 142185379 - A 3:g.142185378_142185379insA ENST00000350721.4:c.6688-4dup 0.28 34 87 1383 Metastatic Breast Cancer (INSERM, PLoS Med 2016) MBC_130 Invasive Breast Carcinoma W651* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid Somatic NA GR 3 142275350 142275350 C T 3:g.142275350C>T ENST00000350721.4:c.1953G>A 0.18 0.01 31 146 1 97 231 9/47 Metastatic Breast Cancer (INSERM, PLoS Med 2016) MBC_68 Invasive Breast Carcinoma I385Nfs*2 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid Somatic NA GR 3 142281091 142281092 - T 3:g.142281091_142281092insT ENST00000350721.4:c.1153dup 0.14 13 81 60 79 4/47 Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-A3-3320-01 Renal Clear Cell Carcinoma A2627Lfs*28 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142168329 142168331 TCC CT 3:g.142168329_142168331delinsCT ENST00000350721.4:c.7875_7877delinsAG 0.27 35 97 147 73 47/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-DB-A75M-01 Astrocytoma X1461_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142238509 142238509 A G 3:g.142238509A>G ENST00000350721.4:c.4382+2T>C 0.15 12 67 75 25 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-60-2713-01 Lung Squamous Cell Carcinoma X2107_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Region SNP gain . . . 3 142188925 142188925 T C 3:g.142188925T>C ENST00000350721.4:c.6319+3A>G 0.22 20 72 51 219 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-FZ-5921-01 Pancreatic Adenocarcinoma E1765* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142218556 142218556 C A 3:g.142218556C>A ENST00000350721.4:c.5293G>T 0.11 48 373 211 69 31/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IB-7652-01 Pancreatic Adenocarcinoma V1328Efs*35 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142242967 142243004 CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA - 3:g.142242967_142243004del ENST00000350721.4:c.3983_4020del 0.15 67 392 186 87 22/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-BF-A1PZ-01 Cutaneous Melanoma X1151_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP . . . 3 142259877 142259877 C A 3:g.142259877C>A ENST00000350721.4:c.3451-1G>T 0.11 3 25 39 1628 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-BF-A1Q0-01 Cutaneous Melanoma X2450_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.575;SIFT: NA;Polyphen-2: NA Splice_Site SNP . . . 3 142177954 142177954 C A 3:g.142177954C>A ENST00000350721.4:c.7350-1G>T 0.11 5 41 26 2630 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FS-A1ZB-06 Cutaneous Melanoma X2450_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.575;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142177954 142177954 C A 3:g.142177954C>A ENST00000350721.4:c.7350-1G>T 0.08 3 34 38 1226 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A8GI-06 Cutaneous Melanoma Q1545* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142232351 142232351 G A 3:g.142232351G>A ENST00000350721.4:c.4633C>T 0.42 40 56 81 4282 26/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A17Z-06 Cutaneous Melanoma X2502_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142176598 142176598 C A 3:g.142176598C>A ENST00000350721.4:c.7504-1G>T 0.11 6 50 48 1110 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A19H-06 Cutaneous Melanoma G1805* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP shallowdel . . . 3 142217584 142217584 C A 3:g.142217584C>A ENST00000350721.4:c.5413G>T 0.15 6 33 43 967 32/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-W3-AA1Q-06 Cutaneous Melanoma Q1638* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142226892 142226892 G A 3:g.142226892G>A ENST00000350721.4:c.4912C>T 0.38 25 40 38 770 28/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_1849 Colorectal Adenocarcinoma X693_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region DEL NA NA dfci.harvard.edu 3 142274988 142274988 A - 3:g.142274988del ENST00000350721.4:c.2079-7del 2005 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_368 Colorectal Adenocarcinoma X629_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region DEL NA NA dfci.harvard.edu 3 142275421 142275421 A - 3:g.142275421del ENST00000350721.4:c.1886-4del 933 Breast Invasive Carcinoma (Sanger, Nature 2012) PD4112a Invasive Breast Carcinoma K704* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 1 Unknown Unknown Sanger 3 142274950 142274950 T A 3:g.142274950T>A ENST00000350721.4:c.2110A>T 34 10/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G2-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma X878_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142272481 142272481 C T 3:g.142272481C>T ENST00000350721.4:c.2633+1G>A 0.15 19 106 133 25711 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A2K5-01 Uterine Endometrioid Carcinoma R1183* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142259780 142259780 G A 3:g.142259780G>A ENST00000350721.4:c.3547C>T 0.51 41 40 72 8509 18/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A3EK-01 Uterine Endometrioid Carcinoma X20_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142297487 142297487 C T 3:g.142297487C>T ENST00000350721.4:c.59+1G>A 0.39 16 25 13 5730 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-DI-A1BU-01 Uterine Mixed Endometrial Carcinoma R1015* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142268449 142268449 G A 3:g.142268449G>A ENST00000350721.4:c.3043C>T 0.23 11 37 31 7642 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-E6-A1LX-01 Uterine Endometrioid Carcinoma X2230_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Region SNP diploid . . . 3 142185373 142185373 A C 3:g.142185373A>C ENST00000350721.4:c.6690T>G 0.23 6 20 32 12691 40/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma E203* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142281637 142281637 C A 3:g.142281637C>A ENST00000350721.4:c.607G>T 0.42 14 19 19 10909 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2D5-01 Uterine Endometrioid Carcinoma X2026_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142211972 142211972 G A 3:g.142211972G>A ENST00000350721.4:c.6078+2C>T 0.17 5 24 31 13865 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2F4-01 Uterine Endometrioid Carcinoma X2074_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142189026 142189026 C T 3:g.142189026C>T ENST00000350721.4:c.6222-1G>A 0.29 10 24 37 1908 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-E9-A1ND-01 Breast Invasive Ductal Carcinoma E1922* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain . . . 3 142215337 142215337 C A 3:g.142215337C>A ENST00000350721.4:c.5764G>T 0.13 3 21 61 84 34/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-VS-A8QH-01 Mucinous Carcinoma K1519* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP shallowdel . . . 3 142232429 142232429 T A 3:g.142232429T>A ENST00000350721.4:c.4555A>T 0.44 16 20 54 115 26/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma E2359* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid . . . 3 142180899 142180899 C A 3:g.142180899C>A ENST00000350721.4:c.7075G>T 0.45 150 181 245 11431 42/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma X1058_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid . . . 3 142266753 142266753 C A 3:g.142266753C>A ENST00000350721.4:c.3172-1G>T 0.39 95 146 246 11431 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma X693_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Region SNP diploid . . . 3 142275222 142275222 T A 3:g.142275222T>A ENST00000350721.4:c.2078+3A>T 0.43 83 109 140 11431 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-F5-6814-01 Rectal Adenocarcinoma E969* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142269045 142269045 C A 3:g.142269045C>A ENST00000350721.4:c.2905G>T 0.44 46 59 229 9454 14/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-A02R-01 Colon Adenocarcinoma L274Ffs*13 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid . . . 3 142281422 142281423 - A 3:g.142281422_142281423insA ENST00000350721.4:c.821dup 0.25 30 91 70 1089 4/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AY-6197-01 Colon Adenocarcinoma S927Qfs*4 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid 1 . . . 3 142272096 142272097 - A 3:g.142272096_142272097insA ENST00000350721.4:c.2777dup 0.28 57 143 52 1054 13/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CA-6717-01 Mucinous Adenocarcinoma of the Colon and Rectum E1078* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142266692 142266692 C A 3:g.142266692C>A ENST00000350721.4:c.3232G>T 0.14 12 74 78 9586 16/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CM-4743-01 Colon Adenocarcinoma Q1246* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid 1 . . . 3 142255033 142255033 G A 3:g.142255033G>A ENST00000350721.4:c.3736C>T 0.16 25 133 228 1106 20/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-QG-A5Z1-01 Colon Adenocarcinoma S709Yfs*25 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid . . . 3 142274935 142274936 AA - 3:g.142274935_142274936del ENST00000350721.4:c.2124_2125del 0.08 13 143 120 95 10/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0162 Breast Mixed Ductal and Lobular Carcinoma S129Lfs*38 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA METABRIC 3 142281858 142281859 - GAACA 3:g.142281858_142281859insGAACA ENST00000350721.4:c.385_386insTGTTC 5 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0163 Breast Invasive Ductal Carcinoma X98_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Splice_Site DEL diploid NA NA METABRIC 3 142281926 142281953 TCTCGTTATGATCCAATTACTGAATTCT - 3:g.142281926_142281953del ENST00000350721.4:c.293-2_318del 14 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0221 Breast Invasive Ductal Carcinoma L1903Sfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL diploid NA NA METABRIC 3 142215887 142215887 A - 3:g.142215887del ENST00000350721.4:c.5706del 8 33/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0306 Breast Invasive Ductal Carcinoma Q555* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA METABRIC 3 142278162 142278162 G A 3:g.142278162G>A ENST00000350721.4:c.1663C>T 21 7/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0421 Breast Invasive Ductal Carcinoma S860* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain NA NA METABRIC 3 142272536 142272536 G C 3:g.142272536G>C ENST00000350721.4:c.2579C>G 7 12/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0626 Breast Invasive Ductal Carcinoma X2074_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.255;SIFT: NA;Polyphen-2: NA Splice_Site SNP shallowdel NA NA METABRIC 3 142189026 142189026 C G 3:g.142189026C>G ENST00000350721.4:c.6222-1G>C 6 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0204 Breast Invasive Ductal Carcinoma C2458* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA METABRIC 3 142177929 142177929 G T 3:g.142177929G>T ENST00000350721.4:c.7374C>A 5 44/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3122 Breast Invasive Ductal Carcinoma X578_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP gain NA NA METABRIC 3 142277620 142277620 T G 3:g.142277620T>G ENST00000350721.4:c.1733-2A>C 6 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4079 Breast Invasive Ductal Carcinoma Q1748* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP gain NA NA METABRIC 3 142222250 142222250 G A 3:g.142222250G>A ENST00000350721.4:c.5242C>T 24 30/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4899 Breast Invasive Ductal Carcinoma X2450_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: , score: undefined;SIFT: NA;Polyphen-2: NA Splice_Site SNP diploid NA NA METABRIC 3 142178067 142178067 A G 3:g.142178067A>G ENST00000350721.4:c.7349+2T>C 8 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0508 Breast Invasive Ductal Carcinoma Q366* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA METABRIC 3 142281148 142281148 G A 3:g.142281148G>A ENST00000350721.4:c.1096C>T 7 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6050 Breast Invasive Ductal Carcinoma S2272* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid NA NA METABRIC 3 142185248 142185248 G C 3:g.142185248G>C ENST00000350721.4:c.6815C>G 3 40/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1260 Prostate Adenocarcinoma P1256Tfs*2 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS NA NA University of Michigan 3 142255005 142255005 A TA 3:g.142255005delinsTA 0.42 35 48 45 657 Metastatic Solid Cancers (UMich, Nature 2017) MO_1287 Breast Invasive Ductal Carcinoma D1568Efs*5 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS NA NA University of Michigan 3 142231252 142231252 C TC 3:g.142231252delinsTC 0.11 10 77 93 72 Metastatic Solid Cancers (UMich, Nature 2017) MO_1304 Cutaneous Squamous Cell Carcinoma M456Ifs*15 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL NA NA University of Michigan 3 142279275 142279278 GTTC GT 3:g.142279275_142279278delinsGT 0.17 23 109 80 1165 Metastatic Solid Cancers (UMich, Nature 2017) MO_1333 Embryonal Carcinoma G1074* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP NA NA University of Michigan 3 142266704 142266704 C A 3:g.142266704C>A ENST00000350721.4:c.3220G>T 0.06 10 149 98 179 16/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1514 Prostate Adenocarcinoma P775Tfs*2 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS NA NA University of Michigan 3 142274739 142274740 - A 3:g.142274739_142274740insA ENST00000350721.4:c.2321dup 0.50 0.05 100 100 5 100 130 10/47 Metastatic Solid Cancers (UMich, Nature 2017) TP_2122 Metaplastic Breast Cancer H2280Pfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS NA NA University of Michigan 3 142185225 142185226 - G 3:g.142185225_142185226insG ENST00000350721.4:c.6838dup 0.25 86 260 214 308 40/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 05CO048 Colon Adenocarcinoma Q447Tfs*3 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid NA NA NA 3 142280095 142280096 - T 3:g.142280095_142280096insT ENST00000350721.4:c.1338dup 1118 5/47 Low-Grade Gliomas (UCSF, Science 2014) P08_Pri Oligoastrocytoma A2535Dfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL NA Untested UCSF 3 142176497 142176497 G - 3:g.142176497del ENST00000350721.4:c.7604del 25 20 45/47 Low-Grade Gliomas (UCSF, Science 2014) P08_Rec Glioblastoma A2535Dfs*6 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Del DEL NA Untested UCSF 3 142176497 142176497 G - 3:g.142176497del ENST00000350721.4:c.7604del 48 50 45/47 Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) HN_62861 Head and Neck Squamous Cell Carcinoma W1784* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP 1 Unknown Unknown broad.mit.edu 3 142218498 142218498 C T 3:g.142218498C>T ENST00000350721.4:c.5351G>A 0.13 25 168 49 31/47 Bladder Urothelial Carcinoma (BGI, Nat Genet 2013) B74 Bladder Urothelial Carcinoma X1794_splice OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.19;SIFT: NA;Polyphen-2: NA Splice_Site SNP NA NA BGI 3 142217617 142217617 C T 3:g.142217617C>T ENST00000350721.4:c.5381-1G>A 104 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-09-2044-01 Serous Ovarian Cancer G2232* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP amp . . . 3 142185369 142185369 C A 3:g.142185369C>A ENST00000350721.4:c.6694G>T 0.10 4 36 32 1895 40/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-13-0889-01 Serous Ovarian Cancer Y1479Lfs*4 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Frame_Shift_Ins INS diploid . . . 3 142234304 142234305 - A 3:g.142234304_142234305insA ENST00000350721.4:c.4435dup 0.14 8 48 225 1066 25/47 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) PROS01448-DFCI.10-448.P31-Tumor-SM-5CQ5A Prostate Adenocarcinoma R2148* OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Nonsense_Mutation SNP diploid Germline NA NA 3 142188289 142188289 G A 3:g.142188289G>A ENST00000350721.4:c.6442C>T 69 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001100-T01-IM3 Bladder Urothelial Carcinoma ATR-intragenic OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA diploid NA NA MSKCC-DMP NA -1 -1 NA 6 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002407-T01-IM3 Colon Adenocarcinoma ATR-intragenic OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA diploid NA NA MSKCC-DMP NA -1 -1 NA 5 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002469-T01-IM3 Oropharynx Squamous Cell Carcinoma ATR-intragenic OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA diploid NA NA MSKCC-DMP NA -1 -1 NA 3 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008437-T01-IM5 Neuroendocrine Tumor, NOS ATR-SPSB4 fusion OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA diploid NA NA MSKCC-DMP NA -1 -1 NA 3 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-66-2727-01 Lung Squamous Cell Carcinoma KPNA4-ATR OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA amp NA NA WashU NA -1 -1 NA 294 Prostate Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-VN-A88M-01 Prostate Adenocarcinoma WWTR1-ATR OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA deepdel NA NA WashU NA -1 -1 NA 16 Prostate Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-YL-A9WK-01 Prostate Adenocarcinoma PCNP-ATR OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA shallowdel NA NA WashU NA -1 -1 NA 27 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-A2-A0CL-01 Breast Invasive Ductal Carcinoma ATR-DBR1 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA amp NA NA WashU NA -1 -1 NA 133 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-VQ-AA6D-01 Tubular Stomach Adenocarcinoma ATR-R3HDM2 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA amp NA NA WashU NA -1 -1 NA 698 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-5856-01 Glioblastoma Multiforme ATR-PHF14 OncoKB: Likely Oncogenic, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Fusion NA gain NA NA WashU NA -1 -1 NA 54 Bladder Urothelial Carcinoma (DFCI/MSKCC, Cancer Discov 2014) MSKCC-0296_R Bladder Urothelial Carcinoma Q1926H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.955;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP 1 NA NA NA 3 142215323 142215323 C G 3:g.142215323C>G ENST00000350721.4:c.5778G>C 733 34/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-66-2785-01 Lung Squamous Cell Carcinoma Q1926H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.955;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP gain 1 . . . 3 142215323 142215323 C G 3:g.142215323C>G ENST00000350721.4:c.5778G>C 0.17 28 137 132 1028 34/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-A6B6-01 Bladder Urothelial Carcinoma Q1926H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.955;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP gain 1 . . . 3 142215323 142215323 C G 3:g.142215323C>G ENST00000350721.4:c.5778G>C 0.46 37 43 73 796 34/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S02-14875 Cutaneous Squamous Cell Carcinoma H2517Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.963 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142176552 142176552 G A 3:g.142176552G>A ENST00000350721.4:c.7549C>T 97 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002964-T02-IM3 Papillary Renal Cell Carcinoma H2517Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.963 Missense_Mutation SNP diploid NA NA NA 3 142176552 142176552 G A 3:g.142176552G>A ENST00000350721.4:c.7549C>T 0.16 109 583 47 45/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S09-31237-TP-NT Cutaneous Squamous Cell Carcinoma R1412Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.6;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: possibly_damaging, score: 0.63 Missense_Mutation SNP 2 Somatic Untested broad.mit.edu 3 142241601 142241601 C T 3:g.142241601C>T ENST00000350721.4:c.4235G>A 98 23/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A0JY-01 Uterine Endometrioid Carcinoma R1412Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.6;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: possibly_damaging, score: 0.63 Missense_Mutation SNP diploid 2 . . . 3 142241601 142241601 C T 3:g.142241601C>T ENST00000350721.4:c.4235G>A 0.34 60 118 173 9706 23/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-5416-01 Glioblastoma Multiforme R1412Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.6;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: possibly_damaging, score: 0.63 Missense_Mutation SNP gain 2 . . . 3 142241601 142241601 C T 3:g.142241601C>T ENST00000350721.4:c.4235G>A 0.18 53 240 231 12177 23/47 Desmoplastic Melanoma (Broad Institute, Nat Genet 2015) Au10 Desmoplastic Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA www.broadinstitute.org 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 572 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005021-T01-IM5 Upper Tract Urothelial Carcinoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 1 NA NA NA 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.35 256 481 212 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009752-T01-IM5 Cutaneous Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 1 NA NA NA 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.09 72 743 246 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE019-T1 Skin Cancer, Non-Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA NA 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.24 77 248 112 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS029-T1 Skin Cancer, Non-Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA NA 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.08 28 316 1420 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS098-T1 Skin Cancer, Non-Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA NA 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.32 200 430 106 45/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FW-A3R5-06 Cutaneous Melanoma R2514C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 1 . . . 3 142176561 142176561 G A 3:g.142176561G>A ENST00000350721.4:c.7540C>T 0.30 29 68 73 15825 45/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-A2-A04W-01 Breast Invasive Carcinoma (NOS) A2575V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.304 Missense_Mutation SNP diploid 1 . . . 3 142172007 142172007 G A 3:g.142172007G>A ENST00000350721.4:c.7724C>T 0.15 21 119 293 126 46/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-E2-A155-01 Breast Invasive Ductal Carcinoma M2540V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.01;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.029 Missense_Mutation SNP diploid 1 . . . 3 142176483 142176483 T C 3:g.142176483T>C ENST00000350721.4:c.7618A>G 0.39 103 160 228 59 45/47 Esophageal Adenocarcinoma (DFCI, Nat Genet 2013) ESO-1608 Esophageal Adenocarcinoma R1886Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.09;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP 2 Somatic NA broad.mit.edu 3 142215936 142215936 C T 3:g.142215936C>T ENST00000350721.4:c.5657G>A 0.05 6 113 131 33/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma R1886Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.09;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP diploid 2 . . . 3 142215936 142215936 C T 3:g.142215936C>T ENST00000350721.4:c.5657G>A 0.41 77 109 166 11431 33/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT019-T2 Skin Cancer, Non-Melanoma T2516I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.97;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP 1 NA NA NA 3 142176554 142176554 G A 3:g.142176554G>A ENST00000350721.4:c.7547C>T 0.36 16 28 505 45/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A0JR-01 Uterine Endometrioid Carcinoma T2516I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.97;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid 1 . . . 3 142176554 142176554 G A 3:g.142176554G>A ENST00000350721.4:c.7547C>T 0.37 45 77 81 568 45/47 Low-Grade Gliomas (UCSF, Science 2014) P24_Rec2 Glioblastoma T2516I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.97;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP 1 somatic NA UCSF 3 142176554 142176554 G A 3:g.142176554G>A ENST00000350721.4:c.7547C>T 0.14 37 235 351 1630 45/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-02-2486-01 Glioblastoma Multiforme D2331Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.96;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.995 Missense_Mutation SNP diploid 1 . . . 3 142183989 142183989 C A 3:g.142183989C>A ENST00000350721.4:c.6991G>T 0.15 15 87 144 57 41/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-0744-01 Glioblastoma Multiforme G426R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.34 Missense_Mutation SNP diploid 2 . . . 3 142280158 142280158 C T 3:g.142280158C>T ENST00000350721.4:c.1276G>A 0.35 43 79 158 64 5/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-12-0821-01 Glioblastoma Multiforme W1471R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.64;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: probably_damaging, score: 0.923 Missense_Mutation SNP diploid 1 . . . 3 142234329 142234329 A G 3:g.142234329A>G ENST00000350721.4:c.4411T>C 0.46 59 69 104 57 25/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-HT-7689-01 Oligodendroglioma G1691R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.255;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 1 . . . 3 142224106 142224106 C T 3:g.142224106C>T ENST00000350721.4:c.5071G>A 0.11 34 275 198 49 29/47 Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015_S00837 Small Cell Lung Cancer E2419K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.83;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.184 Missense_Mutation SNP 1 NA NA ucologne 3 142178163 142178163 C T 3:g.142178163C>T ENST00000350721.4:c.7255G>A 0.58 7 5 166 43/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-66-2785-01 Lung Squamous Cell Carcinoma E2419K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.83;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.184 Missense_Mutation SNP gain 1 . . . 3 142178163 142178163 C T 3:g.142178163C>T ENST00000350721.4:c.7255G>A 0.06 11 160 151 1028 43/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-JX-A3Q0-01 Cervical Squamous Cell Carcinoma E2419K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.83;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.184 Missense_Mutation SNP gain 1 . . . 3 142178163 142178163 C T 3:g.142178163C>T ENST00000350721.4:c.7255G>A 0.26 8 23 29 671 43/47 Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015_S00841 Small Cell Lung Cancer S241I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.174 Missense_Mutation SNP 1 NA NA ucologne 3 142281522 142281522 C A 3:g.142281522C>A ENST00000350721.4:c.722G>T 0.62 24 15 379 4/47 Skin Cutaneous Melanoma (Broad, Cell 2012) ME043 Cutaneous Melanoma R1025C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP 2 NA NA broad.mit.edu 3 142268419 142268419 G A 3:g.142268419G>A ENST00000350721.4:c.3073C>T 546 15/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS018-T1 Skin Cancer, Non-Melanoma R1025C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP 2 NA NA NA 3 142268419 142268419 G A 3:g.142268419G>A ENST00000350721.4:c.3073C>T 0.31 31 70 3893 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A2K5-01 Uterine Endometrioid Carcinoma R1025C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid 2 . . . 3 142268419 142268419 G A 3:g.142268419G>A ENST00000350721.4:c.3073C>T 0.55 16 13 42 8509 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HD-01 Uterine Endometrioid Carcinoma R1025C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid 2 . . . 3 142268419 142268419 G A 3:g.142268419G>A ENST00000350721.4:c.3073C>T 0.46 17 20 45 7848 15/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma R1025C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid 2 . . . 3 142268419 142268419 G A 3:g.142268419G>A ENST00000350721.4:c.3073C>T 0.39 46 73 104 11431 15/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-18 Cutaneous Melanoma P2445L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.71;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.959 Missense_Mutation SNP 1 NA NA broad.mit.edu 3 142178084 142178084 G A 3:g.142178084G>A ENST00000350721.4:c.7334C>T 324 43/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A194-01 Cutaneous Melanoma P2445L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.71;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.959 Missense_Mutation SNP 1 . . . 3 142178084 142178084 G A 3:g.142178084G>A ENST00000350721.4:c.7334C>T 0.24 7 22 45 1131 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004092-T01-IM5 Merkel Cell Carcinoma S2110F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.22;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.298 Missense_Mutation SNP diploid 2 NA NA NA 3 142188402 142188402 G A 3:g.142188402G>A ENST00000350721.4:c.6329C>T 0.19 109 478 93 38/47 Skin Cutaneous Melanoma (Yale, Nat Genet 2012) YULAN Cutaneous Melanoma S2110F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.22;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.298 Missense_Mutation SNP 2 somatic NA yale.edu 3 142188402 142188402 G A 3:g.142188402G>A ENST00000350721.4:c.6329C>T 1940 38/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2MI-06 Cutaneous Melanoma S2110F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.22;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.298 Missense_Mutation SNP diploid 2 . . . 3 142188402 142188402 G A 3:g.142188402G>A ENST00000350721.4:c.6329C>T 0.22 8 28 43 905 38/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) SU2C_Lung-SU2C-DFCI-LUAD-1020-Tumor-SM-AOL3C Lung Adenocarcinoma R2112C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.625;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.899 Missense_Mutation SNP NA NA NA 3 142188397 142188397 G A 3:g.142188397G>A ENST00000350721.4:c.6334C>T 0.32 10 21 115 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001485-T01-IM3 Cutaneous Melanoma R2112C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.625;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.899 Missense_Mutation SNP diploid NA NA NA 3 142188397 142188397 G A 3:g.142188397G>A ENST00000350721.4:c.6334C>T 0.11 44 342 68 38/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT004-T1 Skin Cancer, Non-Melanoma R2112C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.625;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.899 Missense_Mutation SNP NA NA NA 3 142188397 142188397 G A 3:g.142188397G>A ENST00000350721.4:c.6334C>T 0.28 16 42 108 38/47 Uterine Carcinosarcoma (Johns Hopkins, Nat Commun 2014) MM04T Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor R2112C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.625;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.899 Missense_Mutation SNP NA NA John Hopkins 3 142188397 142188397 G A 3:g.142188397G>A ENST00000350721.4:c.6334C>T 5637 38/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat47-Tumor-SM-4DK28 Cutaneous Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.03 4 156 153 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006952-T01-IM5 Cutaneous Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.05 75 1365 18 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007319-T01-IM5 Basaloid Penile Squamous Cell Carcinoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.30 236 547 421 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009736-T01-IM5 Cutaneous Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.42 363 509 14 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT037-T1 Skin Cancer, Non-Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.31 59 134 4658 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS051-T1 Skin Cancer, Non-Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.15 71 396 81 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0VP-01 Uterine Endometrioid Carcinoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 . . . 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.06 7 103 81 1472 14/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-3892-01 Rectal Adenocarcinoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 . . . 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.10 17 149 209 2496 14/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2749 Breast Invasive Ductal Carcinoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 NA NA METABRIC 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 5 14/47 SUMMIT - Neratinib Basket Study (Multi-Institute, Nature 2018) 23 Cutaneous Melanoma R989C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 NA NA NA 3 142268985 142268985 G A 3:g.142268985G>A ENST00000350721.4:c.2965C>T 0.05 75 1365 18 14/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5121 Breast Invasive Lobular Carcinoma C1858R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.97;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.859 Missense_Mutation SNP diploid NA NA METABRIC 3 142216021 142216021 A G 3:g.142216021A>G ENST00000350721.4:c.5572T>C 7 33/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-S4GKDA Adenoid Cystic Carcinoma C1858R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.97;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.859 Missense_Mutation SNP diploid SOMATIC unknown Foundation 3 142216021 142216021 A G 3:g.142216021A>G ENST00000350721.4:c.5572T>C 0.49 319 330 3 33/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5656 Breast Invasive Ductal Carcinoma M1996T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP diploid NA NA METABRIC 3 142212065 142212065 A G 3:g.142212065A>G ENST00000350721.4:c.5987T>C 11 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6133 Breast Invasive Lobular Carcinoma M1996T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP diploid NA NA METABRIC 3 142212065 142212065 A G 3:g.142212065A>G ENST00000350721.4:c.5987T>C 7 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T2412 Breast Invasive Ductal Carcinoma M1996T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP diploid NA NA METABRIC 3 142212065 142212065 A G 3:g.142212065A>G ENST00000350721.4:c.5987T>C 9 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007969-T01-IM5 Stomach Adenocarcinoma I1114del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA NA 3 142266583 142266585 ATG - 3:g.142266583_142266585del ENST00000350721.4:c.3339_3341del 0.07 40 536 46 16/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) ALL-26 B-Lymphoblastic Leukemia/Lymphoma I1114del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA hgsc.bcm.edu 3 142266583 142266585 ATG - 3:g.142266583_142266585del ENST00000350721.4:c.3339_3341del 0.42 0.42 32 45 32 45 121 16/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7158 Breast Invasive Ductal Carcinoma I1114del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA METABRIC 3 142266583 142266585 ATG - 3:g.142266583_142266585del ENST00000350721.4:c.3339_3341del 6 16/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-ST011-T1 Skin Cancer, Non-Melanoma R433H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP NA NA NA 3 142280136 142280136 C T 3:g.142280136C>T ENST00000350721.4:c.1298G>A 0.61 31 20 25 5/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2D0-01 Uterine Endometrioid Carcinoma R433H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP diploid . . . 3 142280136 142280136 C T 3:g.142280136C>T ENST00000350721.4:c.1298G>A 0.33 20 40 51 6445 5/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7200 Breast Invasive Ductal Carcinoma R433H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP diploid NA NA METABRIC 3 142280136 142280136 C T 3:g.142280136C>T ENST00000350721.4:c.1298G>A 7 5/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-A010-01 Colon Adenocarcinoma R177Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: benign, score: 0.106 Missense_Mutation SNP diploid 1 . . . 3 142281714 142281714 C T 3:g.142281714C>T ENST00000350721.4:c.530G>A 0.40 43 64 22 7496 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7280 Breast Invasive Ductal Carcinoma R177Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: benign, score: 0.106 Missense_Mutation SNP diploid 1 NA NA METABRIC 3 142281714 142281714 C T 3:g.142281714C>T ENST00000350721.4:c.530G>A 6 4/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-5416-01 Glioblastoma Multiforme R177Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: benign, score: 0.106 Missense_Mutation SNP gain 1 . . . 3 142281714 142281714 C T 3:g.142281714C>T ENST00000350721.4:c.530G>A 0.19 47 205 195 12177 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004255-T01-IM5 Uterine Endometrioid Carcinoma L1599P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.295;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.326 Missense_Mutation SNP diploid NA NA NA 3 142231158 142231158 A G 3:g.142231158A>G ENST00000350721.4:c.4796T>C 0.15 77 437 28 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009730-T01-IM5 Small Cell Lung Cancer T1798A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.585;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.338 Missense_Mutation SNP diploid NA NA NA 3 142217605 142217605 T C 3:g.142217605T>C ENST00000350721.4:c.5392A>G 0.07 91 1277 20 32/47 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_46_Post Melanoma R2148Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.215;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.919 Missense_Mutation SNP 1 NA NA broad.mit.edu 3 142188288 142188288 C T 3:g.142188288C>T ENST00000350721.4:c.6443G>A 0.16 11 57 601 38/47 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_46_Pre Melanoma R2148Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.215;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.919 Missense_Mutation SNP 1 NA NA broad.mit.edu 3 142188288 142188288 C T 3:g.142188288C>T ENST00000350721.4:c.6443G>A 0.28 26 68 770 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004379-T01-IM5 Uterine Endometrioid Carcinoma R2148Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.215;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.919 Missense_Mutation SNP diploid 1 NA NA NA 3 142188288 142188288 C T 3:g.142188288C>T ENST00000350721.4:c.6443G>A 0.36 178 320 439 38/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-05-4424-01 Lung Adenocarcinoma R2148Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.215;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.919 Missense_Mutation SNP gain 1 . . . 3 142188288 142188288 C T 3:g.142188288C>T ENST00000350721.4:c.6443G>A 0.06 7 116 92 673 38/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A3EL-01 Uterine Endometrioid Carcinoma D1380Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.665;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid 2 . . . 3 142242849 142242849 C A 3:g.142242849C>A ENST00000350721.4:c.4138G>T 0.19 8 35 81 7385 22/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A17Q-01 Uterine Endometrioid Carcinoma D1380Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.665;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid 2 . . . 3 142242849 142242849 C A 3:g.142242849C>A ENST00000350721.4:c.4138G>T 0.41 106 151 207 5940 22/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-GH-A9DA-01 Cervical Squamous Cell Carcinoma D1380Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.665;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP gain 2 . . . 3 142242849 142242849 C A 3:g.142242849C>A ENST00000350721.4:c.4138G>T 0.51 27 26 62 77 22/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma D1380Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.665;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid 2 . . . 3 142242849 142242849 C A 3:g.142242849C>A ENST00000350721.4:c.4138G>T 0.43 157 208 365 11431 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012402-T01-IM5 Colon Adenocarcinoma S684Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid 1 NA NA NA 3 142275252 142275252 G T 3:g.142275252G>T ENST00000350721.4:c.2051C>A 0.14 113 680 240 9/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A0JY-01 Uterine Endometrioid Carcinoma S684Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid 1 . . . 3 142275252 142275252 G T 3:g.142275252G>T ENST00000350721.4:c.2051C>A 0.32 46 98 110 9706 9/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE002-T1 Skin Cancer, Non-Melanoma S2207F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.89;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.086 Missense_Mutation SNP NA NA NA 3 142186843 142186843 G A 3:g.142186843G>A ENST00000350721.4:c.6620C>T 0.12 41 295 36 39/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-RP-A694-06 Cutaneous Melanoma S2207F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.89;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.086 Missense_Mutation SNP diploid . . . 3 142186843 142186843 G A 3:g.142186843G>A ENST00000350721.4:c.6620C>T 0.21 11 41 96 594 39/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001215-T01-IM3 Mucinous Adenocarcinoma of the Colon and Rectum R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP diploid 3 NA NA NA 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 0.16 76 394 249 15/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS080-T1 Skin Cancer, Non-Melanoma R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP 3 NA NA NA 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 0.05 14 266 161 15/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_4505 Colorectal Adenocarcinoma R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP 3 NA NA dfci.harvard.edu 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 136 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A059-01 Uterine Endometrioid Carcinoma R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP diploid 3 . . . 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 0.16 7 36 157 10939 15/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-EI-6917-01 Rectal Adenocarcinoma R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP diploid 3 . . . 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 0.22 26 91 204 4930 15/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3977-01 Colon Adenocarcinoma R1015Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.372 Missense_Mutation SNP diploid 3 . . . 3 142268448 142268448 C T 3:g.142268448C>T ENST00000350721.4:c.3044G>A 0.34 10 19 535 3450 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007995-T01-IM5 Esophagogastric Adenocarcinoma R2190C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.545;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid NA NA NA 3 142186895 142186895 G A 3:g.142186895G>A ENST00000350721.4:c.6568C>T 0.20 95 370 30 39/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3653 Diffuse Large B-Cell Lymphoma, NOS R2190C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.545;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP NA NA Duke University 3 142186895 142186895 G A 3:g.142186895G>A ENST00000350721.4:c.6568C>T 13 39/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-L5-A8NS-01 Esophageal Adenocarcinoma T1663A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.44;SIFT: impact: tolerated, score: 0.7;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP gain . . . 3 142226817 142226817 T C 3:g.142226817T>C ENST00000350721.4:c.4987A>G 0.22 14 51 36 360 28/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CN-6023-01 Head and Neck Squamous Cell Carcinoma Y2637C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.73;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain . . . 3 142168296 142168296 T C 3:g.142168296T>C ENST00000350721.4:c.7910A>G 0.14 15 95 77 101 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001215-T01-IM3 Mucinous Adenocarcinoma of the Colon and Rectum A1406V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.866 Missense_Mutation SNP diploid NA NA NA 3 142241619 142241619 G A 3:g.142241619G>A ENST00000350721.4:c.4217C>T 0.15 76 427 249 23/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005842-T01-IM5 Upper Tract Urothelial Carcinoma A1406V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.866 Missense_Mutation SNP diploid NA NA NA 3 142241619 142241619 G A 3:g.142241619G>A ENST00000350721.4:c.4217C>T 0.39 320 508 41 23/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) s_JC_ucc_017_TZ Upper Tract Urothelial Carcinoma A1406V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.866 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142241619 142241619 G A 3:g.142241619G>A ENST00000350721.4:c.4217C>T 0.39 0.0094 320 508 2 211 41 23/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2379 Colorectal Adenocarcinoma A1406V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.866 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142241619 142241619 G A 3:g.142241619G>A ENST00000350721.4:c.4217C>T 1089 23/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) MLL-14 Acute Leukemias of Ambiguous Lineage L2076V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.005;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.832 Missense_Mutation SNP diploid NA NA hgsc.bcm.edu 3 142189021 142189021 G C 3:g.142189021G>C ENST00000350721.4:c.6226C>G 0.55 0.55 36 30 36 30 93 37/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-JW-A5VL-01 Cervical Squamous Cell Carcinoma L2076V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.005;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.832 Missense_Mutation SNP gain . . . 3 142189021 142189021 G C 3:g.142189021G>C ENST00000350721.4:c.6226C>G 0.23 15 49 34 1868 37/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0062 Breast Invasive Ductal Carcinoma L2076V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.005;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.832 Missense_Mutation SNP diploid NA NA METABRIC 3 142189021 142189021 G C 3:g.142189021G>C ENST00000350721.4:c.6226C>G 10 37/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009913-T01-IM5 Gallbladder Cancer R2547Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.745;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.678 Missense_Mutation SNP diploid 1 NA NA NA 3 142176461 142176461 C T 3:g.142176461C>T ENST00000350721.4:c.7640G>A 0.27 154 421 16 45/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-4201-01 Stomach Adenocarcinoma R2547Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.745;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.678 Missense_Mutation SNP diploid 1 . . . 3 142176461 142176461 C T 3:g.142176461C>T ENST00000350721.4:c.7640G>A 0.19 16 68 67 1350 45/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 01CO006 Colon Adenocarcinoma R2547Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.745;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.678 Missense_Mutation SNP diploid 1 NA NA NA 3 142176461 142176461 C T 3:g.142176461C>T ENST00000350721.4:c.7640G>A 81 45/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-6452-01 Stomach Adenocarcinoma K2221E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.425;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.276 Missense_Mutation SNP gain 1 . . . 3 142186802 142186802 T C 3:g.142186802T>C ENST00000350721.4:c.6661A>G 0.08 11 126 161 5048 39/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8059-01 Intestinal Type Stomach Adenocarcinoma M1159L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.89;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0.135 Missense_Mutation SNP diploid 1 . . . 3 142259852 142259852 T A 3:g.142259852T>A ENST00000350721.4:c.3475A>T 0.31 17 37 86 664 18/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8487-01 Stomach Adenocarcinoma R1051C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: possibly_damaging, score: 0.623 Missense_Mutation SNP diploid 1 . . . 3 142268341 142268341 G A 3:g.142268341G>A ENST00000350721.4:c.3151C>T 0.35 6 11 24 2683 15/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8589-01 Stomach Adenocarcinoma K1613T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.42;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP gain 1 . . . 3 142231116 142231116 T G 3:g.142231116T>G ENST00000350721.4:c.4838A>C 0.08 7 81 95 1009 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001808-T01-IM3 Colon Adenocarcinoma D1560N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid 1 NA NA NA 3 142231276 142231276 C T 3:g.142231276C>T ENST00000350721.4:c.4678G>A 0.20 283 1141 159 27/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8680-01 Tubular Stomach Adenocarcinoma D1560N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid 1 . . . 3 142231276 142231276 C T 3:g.142231276C>T ENST00000350721.4:c.4678G>A 0.32 39 84 139 5414 27/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-D7-5578-01 Tubular Stomach Adenocarcinoma W1490C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.62;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain 1 . . . 3 142234270 142234270 C A 3:g.142234270C>A ENST00000350721.4:c.4470G>T 0.29 70 174 203 191 25/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-D7-A4YT-01 Tubular Stomach Adenocarcinoma T2130R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.175;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid 1 . . . 3 142188342 142188342 G C 3:g.142188342G>C ENST00000350721.4:c.6389C>G 0.39 37 58 93 246 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006421-T01-IM5 Lung Adenocarcinoma R1082H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.06 Missense_Mutation SNP diploid 2 NA NA NA 3 142266679 142266679 C T 3:g.142266679C>T ENST00000350721.4:c.3245G>A 0.35 298 551 12 16/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-K4-A6FZ-01 Bladder Urothelial Carcinoma R1082H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.06 Missense_Mutation SNP diploid 2 . . . 3 142266679 142266679 C T 3:g.142266679C>T ENST00000350721.4:c.3245G>A 0.11 8 62 75 358 16/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-HJ-7597-01 Signet Ring Cell Carcinoma of the Stomach R1082H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.06 Missense_Mutation SNP gain 2 . . . 3 142266679 142266679 C T 3:g.142266679C>T ENST00000350721.4:c.3245G>A 0.17 5 25 75 695 16/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2389 Colorectal Adenocarcinoma R515H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.39;SIFT: impact: tolerated_low_confidence, score: 0.53;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 2 NA NA dfci.harvard.edu 3 142278281 142278281 C T 3:g.142278281C>T ENST00000350721.4:c.1544G>A 60 7/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A103-01 Uterine Endometrioid Carcinoma R515H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.39;SIFT: impact: tolerated_low_confidence, score: 0.53;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 . . . 3 142278281 142278281 C T 3:g.142278281C>T ENST00000350721.4:c.1544G>A 0.36 25 44 129 6849 7/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-HU-A4GQ-01 Tubular Stomach Adenocarcinoma R515H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.39;SIFT: impact: tolerated_low_confidence, score: 0.53;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 . . . 3 142278281 142278281 C T 3:g.142278281C>T ENST00000350721.4:c.1544G>A 0.14 5 30 37 1680 7/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-HU-A4GT-01 Tubular Stomach Adenocarcinoma S1325N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.71;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: probably_damaging, score: 0.937 Missense_Mutation SNP diploid 2 . . . 3 142243013 142243013 C T 3:g.142243013C>T ENST00000350721.4:c.3974G>A 0.08 5 55 65 1262 22/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A174-01 Uterine Endometrioid Carcinoma R1647H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.125;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.158 Missense_Mutation SNP diploid 2 . . . 3 142226864 142226864 C T 3:g.142226864C>T ENST00000350721.4:c.4940G>A 0.36 63 112 141 802 28/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3977-01 Colon Adenocarcinoma R1647H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.125;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.158 Missense_Mutation SNP diploid 2 . . . 3 142226864 142226864 C T 3:g.142226864C>T ENST00000350721.4:c.4940G>A 0.24 20 64 236 3450 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004865-T01-IM5 Colon Adenocarcinoma D983N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.874 Missense_Mutation SNP diploid 1 NA NA NA 3 142269003 142269003 C T 3:g.142269003C>T ENST00000350721.4:c.2947G>A 0.24 212 682 146 14/47 Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014) 03-P1004 Ewing Sarcoma D983N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.874 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142269003 142269003 C T 3:g.142269003C>T ENST00000350721.4:c.2947G>A 77 14/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2269 Colorectal Adenocarcinoma D983N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.874 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142269003 142269003 C T 3:g.142269003C>T ENST00000350721.4:c.2947G>A 4312 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A056-01 Uterine Endometrioid Carcinoma D983N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.874 Missense_Mutation SNP diploid 1 . . . 3 142269003 142269003 C T 3:g.142269003C>T ENST00000350721.4:c.2947G>A 0.36 63 110 194 8230 14/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CN-5356-01 Head and Neck Squamous Cell Carcinoma W1800R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.785;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP gain . . . 3 142217599 142217599 A T 3:g.142217599A>T ENST00000350721.4:c.5398T>A 0.35 38 72 55 315 32/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CN-6995-01 Head and Neck Squamous Cell Carcinoma S1348F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.87;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.535 Missense_Mutation SNP shallowdel . . . 3 142242944 142242944 G A 3:g.142242944G>A ENST00000350721.4:c.4043C>T 0.10 7 65 90 208 22/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CQ-6218-01 Head and Neck Squamous Cell Carcinoma M2266I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.03 Missense_Mutation SNP diploid . . . 3 142185265 142185265 C G 3:g.142185265C>G ENST00000350721.4:c.6798G>C 0.15 9 52 62 114 40/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CR-7386-01 Head and Neck Squamous Cell Carcinoma S61C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.554 Missense_Mutation SNP gain . . . 3 142285073 142285073 G C 3:g.142285073G>C ENST00000350721.4:c.182C>G 0.10 4 37 60 158 3/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CR-7388-01 Head and Neck Squamous Cell Carcinoma H1684D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.4;SIFT: impact: tolerated, score: 0.97;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain . . . 3 142224127 142224127 G C 3:g.142224127G>C ENST00000350721.4:c.5050C>G 0.07 17 236 192 702 29/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-6937-01 Head and Neck Squamous Cell Carcinoma E2373V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.505;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.932 Missense_Mutation SNP gain . . . 3 142180856 142180856 T A 3:g.142180856T>A ENST00000350721.4:c.7118A>T 0.19 48 201 154 146 42/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-7101-01 Head and Neck Squamous Cell Carcinoma E560K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated_low_confidence, score: 0.34;Polyphen-2: impact: benign, score: 0.084 Missense_Mutation SNP gain . . . 3 142278147 142278147 C T 3:g.142278147C>T ENST00000350721.4:c.1678G>A 0.12 7 50 58 187 7/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-7103-01 Head and Neck Squamous Cell Carcinoma P2549T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.47;SIFT: impact: tolerated, score: 0.27;Polyphen-2: impact: benign, score: 0.356 Missense_Mutation SNP gain 1 . . . 3 142176456 142176456 G T 3:g.142176456G>T ENST00000350721.4:c.7645C>A 0.51 42 40 64 74 45/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-7242-01 Head and Neck Squamous Cell Carcinoma G2319E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.485;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.961 Missense_Mutation SNP gain . . . 3 142184024 142184024 C T 3:g.142184024C>T ENST00000350721.4:c.6956G>A 0.25 9 27 46 301 41/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-7422-01 Head and Neck Squamous Cell Carcinoma I693M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: benign, score: 0.049 Missense_Mutation SNP amp . . . 3 142274981 142274981 T C 3:g.142274981T>C ENST00000350721.4:c.2079A>G 0.10 9 85 59 121 10/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-DQ-5624-01 Head and Neck Squamous Cell Carcinoma E54Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.525;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.852 Missense_Mutation SNP gain . . . 3 142285095 142285095 C G 3:g.142285095C>G ENST00000350721.4:c.160G>C 0.06 3 49 30 84 3/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-F7-7848-01 Head and Neck Squamous Cell Carcinoma N2199S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.41;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP diploid . . . 3 142186867 142186867 T C 3:g.142186867T>C ENST00000350721.4:c.6596A>G 0.27 34 90 113 282 39/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-F00162 Lung Adenocarcinoma S700F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.955;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.012 Missense_Mutation SNP gain 1 Unknown NA broad.mit.edu 3 142274961 142274961 G A 3:g.142274961G>A ENST00000350721.4:c.2099C>T 600 10/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-RT-S01721 Lung Adenocarcinoma R2217L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.12;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.341 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142186813 142186813 C A 3:g.142186813C>A ENST00000350721.4:c.6650G>T 366 39/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-S01331 Lung Adenocarcinoma H2437L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: benign, score: 0.022 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142178108 142178108 T A 3:g.142178108T>A ENST00000350721.4:c.7310A>T 253 43/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-YINHD Lung Adenocarcinoma C2336F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.14;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.156 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142183973 142183973 C A 3:g.142183973C>A ENST00000350721.4:c.7007G>T 2733 41/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-YINHD Lung Adenocarcinoma E1277D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.49;SIFT: impact: tolerated, score: 0.39;Polyphen-2: impact: benign, score: 0.072 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142254036 142254036 C G 3:g.142254036C>G ENST00000350721.4:c.3831G>C 2733 21/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-05-4402-01 Lung Adenocarcinoma D1257H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.62;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.819 Missense_Mutation SNP gain 1 . . . 3 142255000 142255000 C G 3:g.142255000C>G ENST00000350721.4:c.3769G>C 0.09 7 74 98 121 20/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-44-7671-01 Lung Adenocarcinoma E797D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.54;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP shallowdel 1 . . . 3 142272808 142272808 T A 3:g.142272808T>A ENST00000350721.4:c.2391A>T 0.25 9 27 60 200 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008595-T02-IM5 Plasmacytoid/Signet Ring Cell Bladder Carcinoma E2579K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.305 Missense_Mutation SNP diploid 1 NA NA NA 3 142171996 142171996 C T 3:g.142171996C>T ENST00000350721.4:c.7735G>A 0.20 106 437 11 46/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-64-1677-01 Lung Adenocarcinoma E2579K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.305 Missense_Mutation SNP diploid 1 . . . 3 142171996 142171996 C T 3:g.142171996C>T ENST00000350721.4:c.7735G>A 0.29 40 99 230 196 46/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-78-7150-01 Lung Adenocarcinoma K695E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.55;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP diploid 1 . . . 3 142274977 142274977 T C 3:g.142274977T>C ENST00000350721.4:c.2083A>G 0.34 16 31 30 364 10/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-78-7155-01 Lung Adenocarcinoma M1517I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.14;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP gain 1 . . . 3 142232433 142232433 C T 3:g.142232433C>T ENST00000350721.4:c.4551G>A 0.26 10 29 59 1406 26/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-78-7155-01 Lung Adenocarcinoma D388N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.36;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain 1 . . . 3 142281082 142281082 C T 3:g.142281082C>T ENST00000350721.4:c.1162G>A 0.16 6 32 53 1406 4/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-91-6829-01 Lung Adenocarcinoma E1699A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.19;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.603 Missense_Mutation SNP diploid 1 . . . 3 142224081 142224081 T G 3:g.142224081T>G ENST00000350721.4:c.5096A>C 0.50 117 119 308 589 29/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010858-T01-IM5 Tubular Stomach Adenocarcinoma A2030V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid 1 NA NA NA 3 142204114 142204114 G A 3:g.142204114G>A ENST00000350721.4:c.6089C>T 0.08 47 562 26 36/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3643 Colorectal Adenocarcinoma A2030V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142204114 142204114 G A 3:g.142204114G>A ENST00000350721.4:c.6089C>T 1192 36/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0VP-01 Uterine Endometrioid Carcinoma A2030V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid 1 . . . 3 142204114 142204114 G A 3:g.142204114G>A ENST00000350721.4:c.6089C>T 0.38 73 119 176 1472 36/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A2QO-01 Uterine Endometrioid Carcinoma A2030V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid 1 . . . 3 142204114 142204114 G A 3:g.142204114G>A ENST00000350721.4:c.6089C>T 0.24 6 19 25 1129 36/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004400-T01-IM5 Glioblastoma Multiforme A2165V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.17;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0.017 Missense_Mutation SNP diploid 1 NA NA NA 3 142188237 142188237 G A 3:g.142188237G>A ENST00000350721.4:c.6494C>T 0.15 57 324 84 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011467-T01-IM5 Cutaneous Melanoma A2165V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.17;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0.017 Missense_Mutation SNP diploid 1 NA NA NA 3 142188237 142188237 G A 3:g.142188237G>A ENST00000350721.4:c.6494C>T 0.23 126 417 68 38/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A051-01 Uterine Endometrioid Carcinoma A2165V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.17;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0.017 Missense_Mutation SNP diploid 1 . . . 3 142188237 142188237 G A 3:g.142188237G>A ENST00000350721.4:c.6494C>T 0.26 85 244 398 8312 38/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A051-01 Uterine Endometrioid Carcinoma R1724M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.83;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP diploid 1 . . . 3 142224006 142224006 C A 3:g.142224006C>A ENST00000350721.4:c.5171G>T 0.15 0.0023 41 230 1 429 8312 29/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A054-01 Uterine Endometrioid Carcinoma R2431K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.873 Missense_Mutation SNP diploid 1 . . . 3 142178126 142178126 C T 3:g.142178126C>T ENST00000350721.4:c.7292G>A 0.50 67 67 97 1089 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A054-01 Uterine Endometrioid Carcinoma K899T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.32 Missense_Mutation SNP diploid 1 . . . 3 142272178 142272178 T G 3:g.142272178T>G ENST00000350721.4:c.2696A>C 0.50 68 69 106 1089 13/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A059-01 Uterine Endometrioid Carcinoma T2580N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.015;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.24 Missense_Mutation SNP diploid 1 . . . 3 142171992 142171992 G T 3:g.142171992G>T ENST00000350721.4:c.7739C>A 0.20 107 420 500 10939 46/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A059-01 Uterine Endometrioid Carcinoma A1934D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.02;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid 1 . . . 3 142215300 142215300 G T 3:g.142215300G>T ENST00000350721.4:c.5801C>A 0.19 16 70 171 10939 34/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A059-01 Uterine Endometrioid Carcinoma L1746I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.795;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP diploid 1 . . . 3 142222256 142222256 G T 3:g.142222256G>T ENST00000350721.4:c.5236C>A 0.21 14 53 112 10939 30/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A059-01 Uterine Endometrioid Carcinoma T541I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated_low_confidence, score: 0.38;Polyphen-2: impact: benign, score: 0.058 Missense_Mutation SNP diploid 1 . . . 3 142278203 142278203 G A 3:g.142278203G>A ENST00000350721.4:c.1622C>T 0.16 44 232 374 10939 7/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A0LM-01 Uterine Endometrioid Carcinoma I1831S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.725 Missense_Mutation SNP diploid 1 . . . 3 142217505 142217505 A C 3:g.142217505A>C ENST00000350721.4:c.5492T>G 0.16 8 42 282 13187 32/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A0LM-01 Uterine Endometrioid Carcinoma L298R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid 1 . . . 3 142281351 142281351 A C 3:g.142281351A>C ENST00000350721.4:c.893T>G 0.12 17 121 174 13187 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A05Z-01 Uterine Endometrioid Carcinoma E2103A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.76;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.164 Missense_Mutation SNP diploid 1 . . . 3 142188939 142188939 T G 3:g.142188939T>G ENST00000350721.4:c.6308A>C 0.29 28 67 77 7369 37/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A05Z-01 Uterine Endometrioid Carcinoma G1181S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.255;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.817 Missense_Mutation SNP diploid 3 . . . 3 142259786 142259786 C T 3:g.142259786C>T ENST00000350721.4:c.3541G>A 0.28 40 105 106 7369 18/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A0J0-01 Uterine Endometrioid Carcinoma S902Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP diploid 1 . . . 3 142272169 142272169 G T 3:g.142272169G>T ENST00000350721.4:c.2705C>A 0.09 5 51 111 7790 13/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A11E-01 Uterine Endometrioid Carcinoma T1401A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.18;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0.092 Missense_Mutation SNP diploid 1 . . . 3 142241635 142241635 T C 3:g.142241635T>C ENST00000350721.4:c.4201A>G 0.18 14 62 199 9039 23/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A11G-01 Uterine Endometrioid Carcinoma L1576R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 1 . . . 3 142231227 142231227 A C 3:g.142231227A>C ENST00000350721.4:c.4727T>G 0.45 160 198 333 553 27/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A11R-01 Uterine Endometrioid Carcinoma E1050Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.69 Missense_Mutation SNP gain 1 . . . 3 142268344 142268344 C G 3:g.142268344C>G ENST00000350721.4:c.3148G>C 0.53 59 52 44 592 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BG-A0YV-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma S549G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated_low_confidence, score: 0.26;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP gain 1 . . . 3 142278180 142278180 T C 3:g.142278180T>C ENST00000350721.4:c.1645A>G 0.24 58 179 158 72 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007144-T01-IM5 Colon Adenocarcinoma L2593I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid 1 NA NA NA 3 142168429 142168429 G T 3:g.142168429G>T ENST00000350721.4:c.7777C>A 0.13 100 677 19 47/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HC-01 Uterine Endometrioid Carcinoma L2593I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid 1 . . . 3 142168429 142168429 G T 3:g.142168429G>T ENST00000350721.4:c.7777C>A 0.58 29 21 57 12976 47/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BS-A0UV-01 Uterine Endometrioid Carcinoma L2593I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain 1 . . . 3 142168429 142168429 G T 3:g.142168429G>T ENST00000350721.4:c.7777C>A 0.28 54 137 214 8968 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005228-T01-IM5 Cutaneous Melanoma R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 3 NA NA NA 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.19 43 184 94 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010499-T01-IM5 Cancer of Unknown Primary R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 3 NA NA NA 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.13 95 655 156 43/47 Uterine Carcinosarcoma (TCGA, PanCancer Atlas) TCGA-ND-A4WC-01 Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 3 . . . 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.36 17 30 61 3667 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A1E0-01 Uterine Endometrioid Carcinoma R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 3 . . . 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.50 13 13 21 4833 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BS-A0UV-01 Uterine Endometrioid Carcinoma R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP gain 3 . . . 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.63 57 33 135 8968 43/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-AN-A046-01 Breast Invasive Ductal Carcinoma R2407C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.943 Missense_Mutation SNP diploid 3 . . . 3 142178199 142178199 G A 3:g.142178199G>A ENST00000350721.4:c.7219C>T 0.29 24 58 98 5392 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A103-01 Uterine Endometrioid Carcinoma S1645F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.835;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.966 Missense_Mutation SNP diploid 1 . . . 3 142226870 142226870 G A 3:g.142226870G>A ENST00000350721.4:c.4934C>T 0.37 16 27 91 6849 28/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-BT-A20J-01 Bladder Urothelial Carcinoma L2093V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.11;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: possibly_damaging, score: 0.633 Missense_Mutation SNP gain 1 . . . 3 142188970 142188970 G C 3:g.142188970G>C ENST00000350721.4:c.6277C>G 0.14 4 24 31 424 37/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-A1A3-01 Bladder Urothelial Carcinoma K2310N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.995;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.945 Missense_Mutation SNP gain 1 . . . 3 142184050 142184050 C G 3:g.142184050C>G ENST00000350721.4:c.6930G>C 0.14 18 113 39 566 41/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-JX-A3Q0-01 Cervical Squamous Cell Carcinoma K2310N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.995;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.945 Missense_Mutation SNP gain 1 . . . 3 142184050 142184050 C G 3:g.142184050C>G ENST00000350721.4:c.6930G>C 0.19 11 47 54 671 41/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-G2-A2EO-01 Bladder Urothelial Carcinoma Q2635H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain 2 . . . 3 142168301 142168301 C G 3:g.142168301C>G ENST00000350721.4:c.7905G>C 0.14 13 77 93 821 47/47 Metastatic Solid Cancers (UMich, Nature 2017) TP_2050 Seminal Vesicle Carcinoma K1273N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.91;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: probably_damaging, score: 0.937 Missense_Mutation SNP 1 NA NA University of Michigan 3 142254950 142254950 C A 3:g.142254950C>A ENST00000350721.4:c.3819G>T 0.13 15 99 110 248 20/47 Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-BP-5185-01 Renal Clear Cell Carcinoma F2321I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.42;Polyphen-2: impact: benign, score: 0.049 Missense_Mutation SNP shallowdel 1 . . . 3 142184019 142184019 A T 3:g.142184019A>T ENST00000350721.4:c.6961T>A 0.59 42 29 155 74 41/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-12-3653-01 Glioblastoma Multiforme M211I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP shallowdel 4 . . . 3 142281611 142281611 C T 3:g.142281611C>T ENST00000350721.4:c.633G>A 0.05 4 69 87 27 4/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-22-4599-01 Lung Squamous Cell Carcinoma C2409S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated, score: 0.38;Polyphen-2: impact: benign, score: 0.173 Missense_Mutation SNP gain 1 . . . 3 142178192 142178192 C G 3:g.142178192C>G ENST00000350721.4:c.7226G>C 0.17 38 186 144 317 43/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-22-4599-01 Lung Squamous Cell Carcinoma V1215L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.24;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: possibly_damaging, score: 0.477 Missense_Mutation SNP gain 1 . . . 3 142257406 142257406 C A 3:g.142257406C>A ENST00000350721.4:c.3643G>T 0.40 113 171 158 317 19/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-22-4613-01 Lung Squamous Cell Carcinoma P2287T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.56;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.886 Missense_Mutation SNP gain 1 . . . 3 142185204 142185204 G T 3:g.142185204G>T ENST00000350721.4:c.6859C>A 0.27 74 202 141 572 40/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-33-4586-01 Lung Squamous Cell Carcinoma H2129Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: possibly_damaging, score: 0.543 Missense_Mutation SNP gain 1 . . . 3 142188344 142188344 A T 3:g.142188344A>T ENST00000350721.4:c.6387T>A 0.45 80 99 137 311 38/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-34-5232-01 Lung Squamous Cell Carcinoma E2479K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.44;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.964 Missense_Mutation SNP gain 1 . . . 3 142177868 142177868 C T 3:g.142177868C>T ENST00000350721.4:c.7435G>A 0.26 12 34 47 169 44/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-34-5927-01 Lung Squamous Cell Carcinoma S1411I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0.023 Missense_Mutation SNP gain 1 . . . 3 142241604 142241604 C A 3:g.142241604C>A ENST00000350721.4:c.4232G>T 0.26 91 260 238 240 23/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-39-5039-01 Lung Squamous Cell Carcinoma Q955R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid 1 . . . 3 142269086 142269086 T C 3:g.142269086T>C ENST00000350721.4:c.2864A>G 0.13 23 152 162 153 14/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-39-5039-01 Lung Squamous Cell Carcinoma A916P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.543 Missense_Mutation SNP diploid 1 . . . 3 142272128 142272128 C G 3:g.142272128C>G ENST00000350721.4:c.2746G>C 0.08 8 92 116 153 13/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-66-2785-01 Lung Squamous Cell Carcinoma D1687H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.27;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain 1 . . . 3 142224118 142224118 C G 3:g.142224118C>G ENST00000350721.4:c.5059G>C 0.28 164 425 512 1028 29/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IG-A3Y9-01 Esophageal Squamous Cell Carcinoma D1687H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.27;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain 1 . . . 3 142224118 142224118 C G 3:g.142224118C>G ENST00000350721.4:c.5059G>C 0.08 3 36 29 197 29/47 Prostate Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-V1-A8WL-01 Prostate Adenocarcinoma R336W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 . . . 3 142281238 142281238 G A 3:g.142281238G>A ENST00000350721.4:c.1006C>T 0.05 4 80 45 25 4/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3864-01 Colon Adenocarcinoma R336W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 . . . 3 142281238 142281238 G A 3:g.142281238G>A ENST00000350721.4:c.1006C>T 0.31 37 84 19 2443 4/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 11CO031 Colon Adenocarcinoma R336W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP deepdel 2 NA NA NA 3 142281238 142281238 G A 3:g.142281238G>A ENST00000350721.4:c.1006C>T 960 4/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FW-A3R5-06 Cutaneous Melanoma D2118N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.093 Missense_Mutation SNP diploid 1 . . . 3 142188379 142188379 C T 3:g.142188379C>T ENST00000350721.4:c.6352G>A 0.26 33 92 57 15825 38/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2624 Colorectal Adenocarcinoma D2118N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.093 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142188379 142188379 C T 3:g.142188379C>T ENST00000350721.4:c.6352G>A 1413 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000083-T01-IM3 Bladder Urothelial Carcinoma R2089P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.07;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP diploid NA NA NA 3 142188981 142188981 C G 3:g.142188981C>G ENST00000350721.4:c.6266G>C 0.20 182 732 116 37/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-33-AASL-01 Lung Squamous Cell Carcinoma M2401V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.185;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP amp . . . 3 142178217 142178217 T C 3:g.142178217T>C ENST00000350721.4:c.7201A>G 0.09 8 77 61 275 43/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-43-8118-01 Lung Squamous Cell Carcinoma D1389N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.52;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP amp . . . 3 142241671 142241671 C T 3:g.142241671C>T ENST00000350721.4:c.4165G>A 0.05 7 142 65 565 23/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-44-7667-01 Lung Adenocarcinoma K918E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.734 Missense_Mutation SNP diploid 1 . . . 3 142272122 142272122 T C 3:g.142272122T>C ENST00000350721.4:c.2752A>G 0.15 9 52 88 431 13/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-49-AARO-01 Lung Adenocarcinoma A879S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.76 Missense_Mutation SNP diploid . . . 3 142272239 142272239 C A 3:g.142272239C>A ENST00000350721.4:c.2635G>T 0.14 3 19 36 540 13/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-55-A4DF-01 Lung Adenocarcinoma D2231H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.34;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.77 Missense_Mutation SNP gain . . . 3 142185372 142185372 C G 3:g.142185372C>G ENST00000350721.4:c.6691G>C 0.08 6 70 29 678 40/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-56-8628-01 Lung Squamous Cell Carcinoma S621R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.855 Missense_Mutation SNP gain . . . 3 142277488 142277488 G T 3:g.142277488G>T ENST00000350721.4:c.1863C>A 0.15 69 394 359 383 8/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-63-A5MW-01 Lung Squamous Cell Carcinoma P429L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0.058 Missense_Mutation SNP gain . . . 3 142280148 142280148 G A 3:g.142280148G>A ENST00000350721.4:c.1286C>T 0.15 23 132 65 426 5/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005744-T01-IM5 High-Grade Serous Ovarian Cancer G2000C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP diploid NA NA NA 3 142212054 142212054 C A 3:g.142212054C>A ENST00000350721.4:c.5998G>T 0.09 53 517 3 35/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-77-8140-01 Lung Squamous Cell Carcinoma G2000C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP gain . . . 3 142212054 142212054 C A 3:g.142212054C>A ENST00000350721.4:c.5998G>T 0.15 14 78 64 340 35/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-77-A5G3-01 Lung Squamous Cell Carcinoma L1744F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.44;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP gain . . . 3 142222260 142222260 T A 3:g.142222260T>A ENST00000350721.4:c.5232A>T 0.35 19 36 38 549 30/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-77-A5G3-01 Lung Squamous Cell Carcinoma E1708G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.745;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.94 Missense_Mutation SNP gain . . . 3 142224054 142224054 T C 3:g.142224054T>C ENST00000350721.4:c.5123A>G 0.09 18 184 191 549 29/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-85-8049-01 Lung Squamous Cell Carcinoma H737P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.36;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain . . . 3 142274850 142274850 T G 3:g.142274850T>G ENST00000350721.4:c.2210A>C 0.08 34 391 45 196 10/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-85-A4CL-01 Lung Squamous Cell Carcinoma D1365Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.115;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain . . . 3 142242894 142242894 C A 3:g.142242894C>A ENST00000350721.4:c.4093G>T 0.18 24 107 85 682 22/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-86-8672-01 Lung Adenocarcinoma H891P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: possibly_damaging, score: 0.593 Missense_Mutation SNP diploid . . . 3 142272202 142272202 T G 3:g.142272202T>G ENST00000350721.4:c.2672A>C 0.34 27 52 93 263 13/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-90-A4ED-01 Lung Squamous Cell Carcinoma S524F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated_low_confidence, score: 0.7;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP shallowdel . . . 3 142278254 142278254 G A 3:g.142278254G>A ENST00000350721.4:c.1571C>T 0.22 12 42 45 1591 7/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-NJ-A55O-01 Lung Adenocarcinoma A1350D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.34;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.891 Missense_Mutation SNP shallowdel . . . 3 142242938 142242938 G T 3:g.142242938G>T ENST00000350721.4:c.4049C>A 0.09 11 107 110 124 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000396-T01-IM3 Oropharynx Squamous Cell Carcinoma G720D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA NA 3 142274901 142274901 C T 3:g.142274901C>T ENST00000350721.4:c.2159G>A 0.36 350 626 9 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004259-T01-IM5 Anaplastic Astrocytoma G720D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA NA 3 142274901 142274901 C T 3:g.142274901C>T ENST00000350721.4:c.2159G>A 0.10 54 473 6 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000582-T01-IM3 Cutaneous Squamous Cell Carcinoma E478K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated_low_confidence, score: 0.26;Polyphen-2: impact: benign, score: 0.036 Missense_Mutation SNP diploid NA NA NA 3 142279214 142279214 C T 3:g.142279214C>T ENST00000350721.4:c.1432G>A 0.51 458 443 59 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000919-T01-IM3 Cutaneous Squamous Cell Carcinoma P1530S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.75;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid NA NA NA 3 142232396 142232396 G A 3:g.142232396G>A ENST00000350721.4:c.4588C>T 0.13 88 596 44 26/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001557-T01-IM3 Larynx Squamous Cell Carcinoma G1129D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.485;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142261571 142261571 C T 3:g.142261571C>T ENST00000350721.4:c.3386G>A 0.30 280 648 12 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003080-T01-IM5 Head and Neck Squamous Cell Carcinoma of Unknown Primary R635Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.65;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142275399 142275399 C T 3:g.142275399C>T ENST00000350721.4:c.1904G>A 0.09 59 631 9 9/47 Adenoid Cystic Carcinoma (MGH, Nat Gen 2016) ACCX2 Adenoid Cystic Carcinoma R635Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.65;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP Somatic Unknown MGH 3 142275399 142275399 C T 3:g.142275399C>T ENST00000350721.4:c.1904G>A 136 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003711-T01-IM5 Oropharynx Squamous Cell Carcinoma G1342V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid NA NA NA 3 142242962 142242962 C A 3:g.142242962C>A ENST00000350721.4:c.4025G>T 0.17 130 653 7 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004055-T01-IM5 Salivary Duct Carcinoma R2112H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.28;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.899 Missense_Mutation SNP diploid NA NA NA 3 142188396 142188396 C T 3:g.142188396C>T ENST00000350721.4:c.6335G>A 0.20 47 190 11 38/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-ST010-T1 Skin Cancer, Non-Melanoma S1583F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.309 Missense_Mutation SNP 1 NA NA NA 3 142231206 142231206 G A 3:g.142231206G>A ENST00000350721.4:c.4748C>T 0.19 5 21 125 27/47 Metastatic Melanoma (MSKCC, JCO Precis Oncol 2017) DS-vem-066-T Cutaneous Melanoma S1583F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.309 Missense_Mutation SNP 1 NA NA BergerLab 3 142231206 142231206 G A 3:g.142231206G>A ENST00000350721.4:c.4748C>T 43 27/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A29G-06 Cutaneous Melanoma S1583F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.309 Missense_Mutation SNP shallowdel 1 . . . 3 142231206 142231206 G A 3:g.142231206G>A ENST00000350721.4:c.4748C>T 0.14 18 109 115 680 27/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-A8-A09Z-01 Breast Invasive Lobular Carcinoma A2134S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.825;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP diploid 1 . . . 3 142188331 142188331 C A 3:g.142188331C>A ENST00000350721.4:c.6400G>T 0.43 113 152 295 1097 38/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-AC-A23H-01 Breast Invasive Ductal Carcinoma S749C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP gain 1 . . . 3 142274814 142274814 G C 3:g.142274814G>C ENST00000350721.4:c.2246C>G 0.16 20 104 98 4260 10/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-C8-A1HJ-01 Breast Invasive Ductal Carcinoma M76L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: tolerated_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP gain 1 . . . 3 142285029 142285029 T G 3:g.142285029T>G ENST00000350721.4:c.226A>C 0.19 15 66 28 96 3/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-E2-A1IN-01 Breast Invasive Ductal Carcinoma E1061K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.775 Missense_Mutation SNP diploid 1 . . . 3 142266743 142266743 C T 3:g.142266743C>T ENST00000350721.4:c.3181G>A 0.16 16 82 99 162 16/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-E9-A243-01 Breast Invasive Ductal Carcinoma D699V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP diploid 1 . . . 3 142274964 142274964 T A 3:g.142274964T>A ENST00000350721.4:c.2096A>T 0.17 11 52 65 64 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000657-T01-IM3 Glioblastoma Multiforme T1469A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.14;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid NA NA NA 3 142234335 142234335 T C 3:g.142234335T>C ENST00000350721.4:c.4405A>G 0.47 384 441 20 25/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2765 Breast Invasive Ductal Carcinoma T1469A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.14;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid NA NA METABRIC 3 142234335 142234335 T C 3:g.142234335T>C ENST00000350721.4:c.4405A>G 2 25/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2821 Metaplastic Breast Cancer T1469A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.14;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142234335 142234335 T C 3:g.142234335T>C ENST00000350721.4:c.4405A>G 6 25/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3298 Breast Invasive Ductal Carcinoma T1469A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.14;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid NA NA METABRIC 3 142234335 142234335 T C 3:g.142234335T>C ENST00000350721.4:c.4405A>G 6 25/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011144-T01-IM5 Colon Adenocarcinoma M82T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: benign, score: 0.165 Missense_Mutation SNP diploid NA NA NA 3 142285010 142285010 A G 3:g.142285010A>G ENST00000350721.4:c.245T>C 0.09 87 859 5 3/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3001 Breast Invasive Ductal Carcinoma M82T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: benign, score: 0.165 Missense_Mutation SNP diploid NA NA METABRIC 3 142285010 142285010 A G 3:g.142285010A>G ENST00000350721.4:c.245T>C 7 3/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma S436L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.29;SIFT: impact: tolerated_low_confidence, score: 0.35;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142280127 142280127 G A 3:g.142280127G>A ENST00000350721.4:c.1307C>T 0.51 27 26 44 10909 5/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3576 Breast Mixed Ductal and Lobular Carcinoma S436L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.29;SIFT: impact: tolerated_low_confidence, score: 0.35;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142280127 142280127 G A 3:g.142280127G>A ENST00000350721.4:c.1307C>T 8 5/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004602-T01-IM5 Colorectal Adenocarcinoma R2459C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.46;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP diploid 2 NA NA NA 3 142177928 142177928 G A 3:g.142177928G>A ENST00000350721.4:c.7375C>T 0.09 38 398 45 44/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4792 Breast Invasive Ductal Carcinoma R2459C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.46;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP gain 2 NA NA METABRIC 3 142177928 142177928 G A 3:g.142177928G>A ENST00000350721.4:c.7375C>T 6 44/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-ZF-A9RL-01 Bladder Urothelial Carcinoma I1753V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.28;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.477 Missense_Mutation SNP diploid . . . 3 142222235 142222235 T C 3:g.142222235T>C ENST00000350721.4:c.5257A>G 0.53 103 91 177 315 30/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5605 Breast Invasive Ductal Carcinoma I1753V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.28;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.477 Missense_Mutation SNP diploid NA NA METABRIC 3 142222235 142222235 T C 3:g.142222235T>C ENST00000350721.4:c.5257A>G 4 30/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6113 Breast Invasive Ductal Carcinoma I1753V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.28;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.477 Missense_Mutation SNP diploid NA NA METABRIC 3 142222235 142222235 T C 3:g.142222235T>C ENST00000350721.4:c.5257A>G 4 30/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-E6-A1LX-01 Uterine Endometrioid Carcinoma K483N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.42;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142279197 142279197 C A 3:g.142279197C>A ENST00000350721.4:c.1449G>T 0.18 7 32 39 12691 6/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7092 Breast Mixed Ductal and Lobular Carcinoma K483N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.42;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142279197 142279197 C A 3:g.142279197C>A ENST00000350721.4:c.1449G>T 10 6/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2758 Diffuse Large B-Cell Lymphoma, NOS R2606Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA Duke University 3 142168389 142168389 C T 3:g.142168389C>T ENST00000350721.4:c.7817G>A 2 47/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3489 Diffuse Large B-Cell Lymphoma, NOS R2606Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA Duke University 3 142168389 142168389 C T 3:g.142168389C>T ENST00000350721.4:c.7817G>A 9 47/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3810 Diffuse Large B-Cell Lymphoma, NOS R2606Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA Duke University 3 142168389 142168389 C T 3:g.142168389C>T ENST00000350721.4:c.7817G>A 3 47/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7258 Breast Invasive Ductal Carcinoma R2606Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain NA NA METABRIC 3 142168389 142168389 C T 3:g.142168389C>T ENST00000350721.4:c.7817G>A 12 47/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-A9SM-01 Bladder Urothelial Carcinoma E2257K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.865;SIFT: impact: tolerated, score: 0.46;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid . . . 3 142185294 142185294 C T 3:g.142185294C>T ENST00000350721.4:c.6769G>A 0.12 6 45 44 218 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T1284 Breast Invasive Ductal Carcinoma E2257K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.865;SIFT: impact: tolerated, score: 0.46;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid NA NA METABRIC 3 142185294 142185294 C T 3:g.142185294C>T ENST00000350721.4:c.6769G>A 35 40/47 Thyroid Carcinoma (TCGA, PanCancer Atlas) TCGA-BJ-A28S-01 Papillary Thyroid Cancer L1013V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid 1 . . . 3 142268455 142268455 G C 3:g.142268455G>C ENST00000350721.4:c.3037C>G 0.33 28 56 37 18 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004346-T01-IM5 Breast Invasive Lobular Carcinoma H1039N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.878 Missense_Mutation SNP diploid NA NA NA 3 142268377 142268377 G T 3:g.142268377G>T ENST00000350721.4:c.3115C>A 0.19 42 184 10 15/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2269 Colorectal Adenocarcinoma H1039N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.878 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142268377 142268377 G T 3:g.142268377G>T ENST00000350721.4:c.3115C>A 4312 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010275-T01-IM5 Rectal Adenocarcinoma P1256H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.93;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid NA NA NA 3 142255002 142255002 G T 3:g.142255002G>T ENST00000350721.4:c.3767C>A 0.06 41 662 65 20/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_335135 Colorectal Adenocarcinoma P1256H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.93;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142255002 142255002 G T 3:g.142255002G>T ENST00000350721.4:c.3767C>A 4117 20/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005773-T02-IM5 Prostate Neuroendocrine Carcinoma R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid 1 NA NA NA 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 0.32 120 257 10 42/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2594 Diffuse Large B-Cell Lymphoma, NOS R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP 1 NA NA Duke University 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 9 42/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_578 Colorectal Adenocarcinoma R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 3908 42/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A2K5-01 Uterine Endometrioid Carcinoma R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid 1 . . . 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 0.45 18 22 57 8509 42/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-A6AW-01 Bladder Urothelial Carcinoma R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid 1 . . . 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 0.43 53 69 124 3546 42/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AG-A002-01 Rectal Adenocarcinoma R2363Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid 1 . . . 3 142180886 142180886 C T 3:g.142180886C>T ENST00000350721.4:c.7088G>A 0.37 0.0040 125 217 1 247 11431 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002274-T01-IM3 Cancer of Unknown Primary R43W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.965 Missense_Mutation SNP diploid NA NA NA 3 142286929 142286929 G A 3:g.142286929G>A ENST00000350721.4:c.127C>T 0.14 31 189 8 2/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011520-T01-IM5 Rectal Adenocarcinoma R43W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.965 Missense_Mutation SNP diploid NA NA NA 3 142286929 142286929 G A 3:g.142286929G>A ENST00000350721.4:c.127C>T 0.07 40 550 9 2/47 Adrenocortical Carcinoma (TCGA, PanCancer Atlas) TCGA-OR-A5JY-01 Adrenocortical Carcinoma R43W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.965 Missense_Mutation SNP shallowdel . . . 3 142286929 142286929 G A 3:g.142286929G>A ENST00000350721.4:c.127C>T 0.52 61 56 194 70 2/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-LN-A9FR-01 Esophageal Squamous Cell Carcinoma H2559N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.34;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.977 Missense_Mutation SNP gain . . . 3 142172056 142172056 G T 3:g.142172056G>T ENST00000350721.4:c.7675C>A 0.12 3 23 46 63 46/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000448-T01-IM3 Uterine Endometrioid Carcinoma V66M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid NA NA NA 3 142285059 142285059 C T 3:g.142285059C>T ENST00000350721.4:c.196G>A 0.35 301 551 74 3/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-UF-A7JO-01 Head and Neck Squamous Cell Carcinoma V66M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP gain . . . 3 142285059 142285059 C T 3:g.142285059C>T ENST00000350721.4:c.196G>A 0.16 15 79 77 154 3/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-U3147N Adenoid Cystic Carcinoma V66M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP SOMATIC unknown Foundation 3 142285059 142285059 C T 3:g.142285059C>T ENST00000350721.4:c.196G>A 0.16 139 731 5 3/47 Prostate Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-M7-A725-01 Prostate Adenocarcinoma D1559E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.51;SIFT: impact: tolerated, score: 0.33;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP diploid . . . 3 142231277 142231277 G C 3:g.142231277G>C ENST00000350721.4:c.4677C>G 0.33 29 58 140 27 27/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-B7-A5TI-01 Diffuse Type Stomach Adenocarcinoma I2595S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain . . . 3 142168422 142168422 A C 3:g.142168422A>C ENST00000350721.4:c.7784T>G 0.40 17 26 39 551 47/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-R5-A7ZI-01 Diffuse Type Stomach Adenocarcinoma H2477R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.979 Missense_Mutation SNP diploid . . . 3 142177873 142177873 T C 3:g.142177873T>C ENST00000350721.4:c.7430A>G 0.17 10 49 51 766 44/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-R5-A7ZE-01 Tubular Stomach Adenocarcinoma D701N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.026 Missense_Mutation SNP gain . . . 3 142274959 142274959 C T 3:g.142274959C>T ENST00000350721.4:c.2101G>A 0.14 12 71 90 148 10/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-RD-A8N9-01 Diffuse Type Stomach Adenocarcinoma V66L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.988 Missense_Mutation SNP gain . . . 3 142285059 142285059 C G 3:g.142285059C>G ENST00000350721.4:c.196G>C 0.43 39 51 76 101 3/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-04-1341-01 Serous Ovarian Cancer V66L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.988 Missense_Mutation SNP gain . . . 3 142285059 142285059 C G 3:g.142285059C>G ENST00000350721.4:c.196G>C 0.19 52 228 186 28 3/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-4201-01 Stomach Adenocarcinoma S1863N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.525;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: possibly_damaging, score: 0.499 Missense_Mutation SNP diploid . . . 3 142216005 142216005 C T 3:g.142216005C>T ENST00000350721.4:c.5588G>A 0.14 14 86 103 1350 33/47 Sarcoma (TCGA, PanCancer Atlas) TCGA-IW-A3M6-01 Leiomyosarcoma W2290R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.555;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.445 Missense_Mutation SNP diploid . . . 3 142185195 142185195 A G 3:g.142185195A>G ENST00000350721.4:c.6868T>C 0.35 18 34 37 51 40/47 Sarcoma (TCGA, PanCancer Atlas) TCGA-WP-A9GB-01 Leiomyosarcoma F517S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated_low_confidence, score: 0.45;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142278275 142278275 A G 3:g.142278275A>G ENST00000350721.4:c.1550T>C 0.32 6 13 20 134 7/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3548 Diffuse Large B-Cell Lymphoma, NOS R668W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP 1 NA NA Duke University 3 142275301 142275301 G A 3:g.142275301G>A ENST00000350721.4:c.2002C>T 20 9/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3664-01 Colon Adenocarcinoma A615T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.355;SIFT: impact: tolerated, score: 0.94;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142277508 142277508 C T 3:g.142277508C>T ENST00000350721.4:c.1843G>A 0.44 202 262 598 145 8/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3811-01 Colon Adenocarcinoma L1749P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.51;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.23 Missense_Mutation SNP shallowdel 1 . . . 3 142222246 142222246 A G 3:g.142222246A>G ENST00000350721.4:c.5246T>C 0.18 0.01 14 65 1 76 1915 30/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-A010-01 Colon Adenocarcinoma E1602D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142231148 142231148 C A 3:g.142231148C>A ENST00000350721.4:c.4806G>T 0.35 58 108 45 7496 27/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-KQ-A41Q-01 Bladder Urothelial Carcinoma L1944F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.74;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid 1 . . . 3 142215271 142215271 G A 3:g.142215271G>A ENST00000350721.4:c.5830C>T 0.20 10 39 35 231 34/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AY-4070-01 Colon Adenocarcinoma L1944F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.74;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid 1 . . . 3 142215271 142215271 G A 3:g.142215271G>A ENST00000350721.4:c.5830C>T 0.26 25 73 131 151 34/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-13-0760-01 Serous Ovarian Cancer N2056I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.39;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.828 Missense_Mutation SNP amp 1 . . . 3 142204036 142204036 T A 3:g.142204036T>A ENST00000350721.4:c.6167A>T 0.14 68 409 249 173 36/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-13-0800-01 Serous Ovarian Cancer E2378V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.75;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP gain 2 . . . 3 142180841 142180841 T A 3:g.142180841T>A ENST00000350721.4:c.7133A>T 0.23 0.0037 73 246 1 267 115 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004577-T01-IM5 Seminoma P950L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.77;Polyphen-2: impact: benign, score: 0.041 Missense_Mutation SNP diploid NA NA NA 3 142269101 142269101 G A 3:g.142269101G>A ENST00000350721.4:c.2849C>T 0.13 15 104 1 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001071-T01-IM3 Prostate Adenocarcinoma T994A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: possibly_damaging, score: 0.452 Missense_Mutation SNP diploid NA NA NA 3 142268512 142268512 T C 3:g.142268512T>C ENST00000350721.4:c.2980A>G 0.33 163 326 37 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A3EL-01 Uterine Endometrioid Carcinoma T994A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: possibly_damaging, score: 0.452 Missense_Mutation SNP diploid . . . 3 142268512 142268512 T C 3:g.142268512T>C ENST00000350721.4:c.2980A>G 0.36 14 25 57 7385 15/47 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) PROS11496-6115321-Tumor-SM-6CNQ5 Prostate Adenocarcinoma T994A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: possibly_damaging, score: 0.452 Missense_Mutation SNP diploid Somatic Untested broad.mit.edu 3 142268512 142268512 T C 3:g.142268512T>C ENST00000350721.4:c.2980A>G 0.45 45 54 1150 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000505-T01-IM3 Prostate Adenocarcinoma D2494A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid NA NA NA 3 142177822 142177822 T G 3:g.142177822T>G ENST00000350721.4:c.7481A>C 0.06 42 613 4 44/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004285-T01-IM5 Prostate Adenocarcinoma R16Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.785;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0.022 Missense_Mutation SNP diploid NA NA NA 3 142297500 142297500 C T 3:g.142297500C>T ENST00000350721.4:c.47G>A 0.08 31 370 5 1/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004910-T01-IM5 Prostate Adenocarcinoma V959A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.345;SIFT: impact: tolerated, score: 0.56;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142269074 142269074 A G 3:g.142269074A>G ENST00000350721.4:c.2876T>C 0.44 262 339 42 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004910-T03-IM5 Prostate Adenocarcinoma V959A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.345;SIFT: impact: tolerated, score: 0.56;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142269074 142269074 A G 3:g.142269074A>G ENST00000350721.4:c.2876T>C 0.34 183 348 40 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004910-T04-IM5 Prostate Adenocarcinoma V959A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.345;SIFT: impact: tolerated, score: 0.56;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142269074 142269074 A G 3:g.142269074A>G ENST00000350721.4:c.2876T>C 0.20 115 448 36 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004555-T01-IM5 Breast Invasive Lobular Carcinoma R1183Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.688 Missense_Mutation SNP diploid 1 NA NA NA 3 142259779 142259779 C T 3:g.142259779C>T ENST00000350721.4:c.3548G>A 0.08 31 379 30 18/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-E6-A1LX-01 Uterine Endometrioid Carcinoma R1183Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.688 Missense_Mutation SNP diploid 1 . . . 3 142259779 142259779 C T 3:g.142259779C>T ENST00000350721.4:c.3548G>A 0.40 33 50 66 12691 18/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-AN-A046-01 Breast Invasive Ductal Carcinoma R1183Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.688 Missense_Mutation SNP diploid 1 . . . 3 142259779 142259779 C T 3:g.142259779C>T ENST00000350721.4:c.3548G>A 0.26 88 246 342 5392 18/47 SUMMIT - Neratinib Basket Study (Multi-Institute, Nature 2018) 69 Breast Invasive Lobular Carcinoma R1183Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.688 Missense_Mutation SNP diploid 1 NA NA NA 3 142259779 142259779 C T 3:g.142259779C>T ENST00000350721.4:c.3548G>A 0.08 31 379 30 18/47 Testicular Germ Cell Tumors (TCGA, PanCancer Atlas) TCGA-ZM-AA06-01 Seminoma M2204T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.32;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0.059 Missense_Mutation SNP shallowdel . . . 3 142186852 142186852 A G 3:g.142186852A>G ENST00000350721.4:c.6611T>C 0.43 19 25 42 16 39/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007831-T01-IM5 Colon Adenocarcinoma R1647C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.815;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.952 Missense_Mutation SNP diploid 2 NA NA NA 3 142226865 142226865 G A 3:g.142226865G>A ENST00000350721.4:c.4939C>T 0.07 21 280 48 28/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 11CO070 Colon Adenocarcinoma R1647C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.815;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.952 Missense_Mutation SNP diploid 2 NA NA NA 3 142226865 142226865 G A 3:g.142226865G>A ENST00000350721.4:c.4939C>T 9438 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010497-T01-IM5 Colon Adenocarcinoma R43Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated_low_confidence, score: 0.21;Polyphen-2: impact: benign, score: 0.097 Missense_Mutation SNP diploid NA NA NA 3 142286928 142286928 C T 3:g.142286928C>T ENST00000350721.4:c.128G>A 0.24 144 465 8 2/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004362-T01-IM5 Colon Adenocarcinoma P2447H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.82;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142178078 142178078 G T 3:g.142178078G>T ENST00000350721.4:c.7340C>A 0.07 17 232 70 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006960-T01-IM5 Colorectal Adenocarcinoma T2276N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid NA NA NA 3 142185236 142185236 G T 3:g.142185236G>T ENST00000350721.4:c.6827C>A 0.17 165 832 351 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006960-T01-IM5 Colorectal Adenocarcinoma K542Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated_low_confidence, score: 0.34;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid NA NA NA 3 142278201 142278201 T G 3:g.142278201T>G ENST00000350721.4:c.1624A>C 0.33 173 348 351 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004030-T01-IM5 Lung Adenocarcinoma E2034Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.655;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.251 Missense_Mutation SNP diploid NA NA NA 3 142204103 142204103 C G 3:g.142204103C>G ENST00000350721.4:c.6100G>C 0.22 84 300 25 36/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004189-T01-IM5 Lung Adenocarcinoma S191L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated_low_confidence, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281672 142281672 G A 3:g.142281672G>A ENST00000350721.4:c.572C>T 0.21 139 525 60 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001782-T01-IM3 Lung Adenocarcinoma T1275A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.95;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid NA NA NA 3 142254044 142254044 T C 3:g.142254044T>C ENST00000350721.4:c.3823A>G 0.07 16 223 27 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005824-T01-IM5 Colon Adenocarcinoma L2064I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.07;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.698 Missense_Mutation SNP diploid 1 NA NA NA 3 142204013 142204013 G T 3:g.142204013G>T ENST00000350721.4:c.6190C>A 0.16 159 845 347 36/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005824-T01-IM5 Colon Adenocarcinoma S1306R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.255;SIFT: impact: tolerated, score: 0.63;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP diploid NA NA NA 3 142253951 142253951 T G 3:g.142253951T>G ENST00000350721.4:c.3916A>C 0.22 203 729 347 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008184-T01-IM5 Small Bowel Cancer S1306R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.255;SIFT: impact: tolerated, score: 0.63;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP diploid NA NA NA 3 142253951 142253951 T G 3:g.142253951T>G ENST00000350721.4:c.3916A>C 0.06 38 644 9 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005824-T01-IM5 Colon Adenocarcinoma K526N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142278247 142278247 C A 3:g.142278247C>A ENST00000350721.4:c.1578G>T 0.24 159 510 347 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008729-T01-IM5 Colon Adenocarcinoma T1563A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.895;SIFT: impact: tolerated, score: 0.77;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142231267 142231267 T C 3:g.142231267T>C ENST00000350721.4:c.4687A>G 0.24 230 709 51 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001424-T01-IM3 Colon Adenocarcinoma N2019F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation DNP diploid NA NA NA 3 142211996 142211997 TT AA 3:g.142211996_142211997delinsAA ENST00000350721.4:c.6055_6056inv 0.05 59 1075 10 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003894-T01-IM5 Esophageal Adenocarcinoma A888S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.36;Polyphen-2: impact: benign, score: 0.088 Missense_Mutation SNP diploid NA NA NA 3 142272212 142272212 C A 3:g.142272212C>A ENST00000350721.4:c.2662G>T 0.24 103 326 12 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010499-T01-IM5 Cancer of Unknown Primary E1146D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.722 Missense_Mutation SNP diploid NA NA NA 3 142261519 142261519 T G 3:g.142261519T>G ENST00000350721.4:c.3438A>C 0.14 115 714 156 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006341-T01-IM5 Lung Adenocarcinoma D1723Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.4;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.969 Missense_Mutation SNP diploid NA NA NA 3 142224010 142224010 C A 3:g.142224010C>A ENST00000350721.4:c.5167G>T 0.08 84 953 20 29/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004472-T01-IM5 Lung Adenocarcinoma N484K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.71;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142279194 142279194 A T 3:g.142279194A>T ENST00000350721.4:c.1452T>A 0.11 18 148 15 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003229-T01-IM5 Lung Adenocarcinoma N1314D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.39;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.797 Missense_Mutation SNP diploid NA NA NA 3 142253927 142253927 T C 3:g.142253927T>C ENST00000350721.4:c.3940A>G 0.06 28 426 49 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012402-T01-IM5 Colon Adenocarcinoma H2361N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.125;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.524 Missense_Mutation SNP diploid NA NA NA 3 142180893 142180893 G T 3:g.142180893G>T ENST00000350721.4:c.7081C>A 0.16 99 531 240 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012402-T01-IM5 Colon Adenocarcinoma L769I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP diploid NA NA NA 3 142274755 142274755 G T 3:g.142274755G>T ENST00000350721.4:c.2305C>A 0.15 90 513 240 10/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) DFCI_11-104_011-Tumor-SM-5PA3E Bladder Urothelial Carcinoma Q1877E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.145;SIFT: impact: tolerated, score: 0.79;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP NA NA NA 3 142215964 142215964 G C 3:g.142215964G>C ENST00000350721.4:c.5629C>G 0.10 20 188 505 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002403-T01-IM3 Lung Adenocarcinoma Q1877E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.145;SIFT: impact: tolerated, score: 0.79;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP diploid NA NA NA 3 142215964 142215964 G C 3:g.142215964G>C ENST00000350721.4:c.5629C>G 0.12 108 815 8 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001215-T01-IM3 Mucinous Adenocarcinoma of the Colon and Rectum L2428I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.155;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: possibly_damaging, score: 0.732 Missense_Mutation SNP diploid 1 NA NA NA 3 142178136 142178136 G T 3:g.142178136G>T ENST00000350721.4:c.7282C>A 0.16 56 299 249 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001215-T01-IM3 Mucinous Adenocarcinoma of the Colon and Rectum K1678N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.485;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.587 Missense_Mutation SNP diploid NA NA NA 3 142224143 142224143 T G 3:g.142224143T>G ENST00000350721.4:c.5034A>C 0.08 36 433 249 29/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001215-T01-IM3 Mucinous Adenocarcinoma of the Colon and Rectum F1091C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.335 Missense_Mutation SNP diploid NA NA NA 3 142266652 142266652 A C 3:g.142266652A>C ENST00000350721.4:c.3272T>G 0.16 68 366 249 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005564-T01-IM5 Uterine Endometrioid Carcinoma R1653Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.195;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142226846 142226846 C T 3:g.142226846C>T ENST00000350721.4:c.4958G>A 0.42 237 326 113 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005767-T02-IM5 Esophageal Adenocarcinoma R1653Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.195;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142226846 142226846 C T 3:g.142226846C>T ENST00000350721.4:c.4958G>A 0.11 81 667 7 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006719-T01-IM5 Cutaneous Melanoma R1653Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.195;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142226846 142226846 C T 3:g.142226846C>T ENST00000350721.4:c.4958G>A 0.50 249 254 38 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006612-T01-IM5 Colon Adenocarcinoma K1595T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.215;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.321 Missense_Mutation SNP diploid NA NA NA 3 142231170 142231170 T G 3:g.142231170T>G ENST00000350721.4:c.4784A>C 0.25 263 797 357 27/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CA-6717-01 Mucinous Adenocarcinoma of the Colon and Rectum K1595T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.215;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.321 Missense_Mutation SNP diploid . . . 3 142231170 142231170 T G 3:g.142231170T>G ENST00000350721.4:c.4784A>C 0.19 24 102 80 9586 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006612-T01-IM5 Colon Adenocarcinoma V981I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.314 Missense_Mutation SNP diploid NA NA NA 3 142269009 142269009 C T 3:g.142269009C>T ENST00000350721.4:c.2941G>A 0.22 217 772 357 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000491-T01-IM3 Lung Adenocarcinoma R1774I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.685;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142218528 142218528 C A 3:g.142218528C>A ENST00000350721.4:c.5321G>T 0.13 101 653 26 31/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002459-T01-IM3 Lung Adenocarcinoma L2133S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.77;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.813 Missense_Mutation SNP diploid NA NA NA 3 142188333 142188333 A G 3:g.142188333A>G ENST00000350721.4:c.6398T>C 0.32 249 536 22 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000571-T01-IM3 Lung Adenocarcinoma M2339I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.375;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.811 Missense_Mutation SNP diploid NA NA NA 3 142183963 142183963 C T 3:g.142183963C>T ENST00000350721.4:c.7017G>A 0.47 259 293 7 41/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006855-T01-IM5 Lung Adenocarcinoma E1547V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.794 Missense_Mutation SNP diploid NA NA NA 3 142232344 142232344 T A 3:g.142232344T>A ENST00000350721.4:c.4640A>T 0.10 88 815 5 26/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001613-T02-IM5 Lung Adenocarcinoma E1986K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.6;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.033 Missense_Mutation SNP diploid NA NA NA 3 142212096 142212096 C T 3:g.142212096C>T ENST00000350721.4:c.5956G>A 0.12 96 722 7 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000676-T01-IM3 Lung Adenocarcinoma S904C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.15;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.707 Missense_Mutation SNP diploid NA NA NA 3 142272163 142272163 G C 3:g.142272163G>C ENST00000350721.4:c.2711C>G 0.48 283 305 9 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006878-T01-IM5 Lung Adenocarcinoma L1237I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.135;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.858 Missense_Mutation SNP diploid NA NA NA 3 142257340 142257340 G T 3:g.142257340G>T ENST00000350721.4:c.3709C>A 0.07 41 530 5 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003562-T01-IM5 Lung Adenocarcinoma D1560Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.34;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.791 Missense_Mutation SNP diploid 1 NA NA NA 3 142231276 142231276 C A 3:g.142231276C>A ENST00000350721.4:c.4678G>T 0.55 413 339 37 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009067-T01-IM5 Esophageal Adenocarcinoma Y600C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142277552 142277552 T C 3:g.142277552T>C ENST00000350721.4:c.1799A>G 0.09 71 756 5 8/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009764-T01-IM5 Lung Adenocarcinoma W2094L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.915;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142188966 142188966 C A 3:g.142188966C>A ENST00000350721.4:c.6281G>T 0.32 352 743 23 37/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007643-T01-IM5 Lung Adenocarcinoma L1128S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142261574 142261574 A G 3:g.142261574A>G ENST00000350721.4:c.3383T>C 0.15 123 694 9 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003477-T01-IM5 Esophageal Adenocarcinoma A1052T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.033 Missense_Mutation SNP diploid NA NA NA 3 142268338 142268338 C T 3:g.142268338C>T ENST00000350721.4:c.3154G>A 0.15 91 505 4 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003432-T01-IM5 Esophageal Adenocarcinoma R878K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: benign, score: 0.1 Missense_Mutation SNP diploid NA NA NA 3 142272482 142272482 C T 3:g.142272482C>T ENST00000350721.4:c.2633G>A 0.31 70 158 5 12/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002957-T01-IM3 Lung Adenocarcinoma V2113L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.63;SIFT: impact: tolerated, score: 0.57;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142188394 142188394 C G 3:g.142188394C>G ENST00000350721.4:c.6337G>C 0.67 155 77 20 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002126-T01-IM3 Lung Adenocarcinoma P1221T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.36;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142257388 142257388 G T 3:g.142257388G>T ENST00000350721.4:c.3661C>A 0.28 227 588 3 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002969-T01-IM3 Lung Adenocarcinoma V1581L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.165;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.32 Missense_Mutation SNP diploid NA NA NA 3 142231213 142231213 C A 3:g.142231213C>A ENST00000350721.4:c.4741G>T 0.22 111 387 20 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000552-T01-IM3 Colon Adenocarcinoma K1595I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.32;SIFT: impact: tolerated, score: 0.21;Polyphen-2: impact: benign, score: 0.03 Missense_Mutation SNP diploid NA NA NA 3 142231170 142231170 T A 3:g.142231170T>A ENST00000350721.4:c.4784A>T 0.32 291 630 6 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001746-T01-IM3 Colon Adenocarcinoma L780I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.162 Missense_Mutation SNP diploid NA NA NA 3 142274722 142274722 G T 3:g.142274722G>T ENST00000350721.4:c.2338C>A 0.18 33 147 7 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003791-T01-IM5 Colon Adenocarcinoma L1910F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.76;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.422 Missense_Mutation SNP diploid NA NA NA 3 142215865 142215865 G A 3:g.142215865G>A ENST00000350721.4:c.5728C>T 0.05 35 660 10 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007185-T01-IM5 Colorectal Adenocarcinoma K2420N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.305;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.94 Missense_Mutation SNP diploid NA NA NA 3 142178158 142178158 T A 3:g.142178158T>A ENST00000350721.4:c.7260A>T 0.10 61 570 12 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005742-T01-IM5 Colon Adenocarcinoma D1821N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: benign, score: 0.053 Missense_Mutation SNP diploid NA NA NA 3 142217536 142217536 C T 3:g.142217536C>T ENST00000350721.4:c.5461G>A 0.19 179 767 12 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006887-T01-IM5 Colon Adenocarcinoma M2324V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.505;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.119 Missense_Mutation SNP diploid NA NA NA 3 142184010 142184010 T C 3:g.142184010T>C ENST00000350721.4:c.6970A>G 0.13 177 1212 7 41/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006135-T01-IM5 Colon Adenocarcinoma V672I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.185;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA NA 3 142275289 142275289 C T 3:g.142275289C>T ENST00000350721.4:c.2014G>A 0.48 259 279 14 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010360-T01-IM5 Colon Adenocarcinoma A880V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.417 Missense_Mutation SNP diploid NA NA NA 3 142272235 142272235 G A 3:g.142272235G>A ENST00000350721.4:c.2639C>T 0.22 162 561 6 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007654-T01-IM5 Colon Adenocarcinoma R161K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.145;SIFT: impact: tolerated_low_confidence, score: 0.93;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281762 142281762 C T 3:g.142281762C>T ENST00000350721.4:c.482G>A 0.33 235 484 10 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011357-T01-IM5 Colon Adenocarcinoma G1144D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.24;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP diploid 1 NA NA NA 3 142261526 142261526 C T 3:g.142261526C>T ENST00000350721.4:c.3431G>A 0.08 63 776 206 17/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A1DV-01 Uterine Endometrioid Carcinoma G1144D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.24;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP diploid 1 . . . 3 142261526 142261526 C T 3:g.142261526C>T ENST00000350721.4:c.3431G>A 0.42 25 35 47 12063 17/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CK-5912-01 Colon Adenocarcinoma G1144D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.24;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP diploid 1 . . . 3 142261526 142261526 C T 3:g.142261526C>T ENST00000350721.4:c.3431G>A 0.39 317 491 168 61 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007887-T01-IM5 Colon Adenocarcinoma S95R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.098 Missense_Mutation SNP diploid NA NA NA 3 142284970 142284970 A T 3:g.142284970A>T ENST00000350721.4:c.285T>A 0.17 73 360 10 3/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010513-T01-IM5 Rectal Adenocarcinoma A654T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.085;SIFT: impact: tolerated, score: 0.62;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP diploid NA NA NA 3 142275343 142275343 C T 3:g.142275343C>T ENST00000350721.4:c.1960G>A 0.31 160 355 6 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000732-T01-IM3 Lung Adenocarcinoma E238K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated_low_confidence, score: 0.16;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281532 142281532 C T 3:g.142281532C>T ENST00000350721.4:c.712G>A 0.08 45 526 2 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002016-T01-IM3 Lung Adenocarcinoma R1082L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.759 Missense_Mutation SNP diploid 2 NA NA NA 3 142266679 142266679 C A 3:g.142266679C>A ENST00000350721.4:c.3245G>T 0.28 160 410 23 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000110-T01-IM3 Lung Adenocarcinoma R2541S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.974 Missense_Mutation SNP diploid NA NA NA 3 142176478 142176478 C A 3:g.142176478C>A ENST00000350721.4:c.7623G>T 0.11 92 755 15 45/47 Metastatic Melanoma (UCLA, Cell 2016) Pt4 Melanoma R1201C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.175;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.837 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142257448 142257448 G A 3:g.142257448G>A ENST00000350721.4:c.3601C>T 0.45 48 59 4120 19/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) A511 Lung Adenocarcinoma R1201C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.175;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.837 Missense_Mutation SNP diploid NA NA NA 3 142257448 142257448 G A 3:g.142257448G>A ENST00000350721.4:c.3601C>T 0.10 8 75 42 19/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22U-01 Uterine Endometrioid Carcinoma R1201C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.175;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.837 Missense_Mutation SNP diploid . . . 3 142257448 142257448 G A 3:g.142257448G>A ENST00000350721.4:c.3601C>T 0.40 16 24 27 13829 19/47 Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-BP-4965-01 Renal Clear Cell Carcinoma L2471M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.69;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.978 Missense_Mutation SNP diploid 1 . . . 3 142177892 142177892 G T 3:g.142177892G>T ENST00000350721.4:c.7411C>A 0.22 23 82 90 49 44/47 Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-B4-5835-01 Renal Clear Cell Carcinoma G2474R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP gain 1 . . . 3 142177883 142177883 C T 3:g.142177883C>T ENST00000350721.4:c.7420G>A 0.32 27 58 71 71 44/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-DS-A0VK-01 Cervical Squamous Cell Carcinoma D2372A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.338 Missense_Mutation SNP amp 1 . . . 3 142180859 142180859 T G 3:g.142180859T>G ENST00000350721.4:c.7115A>C 0.27 129 347 310 116 42/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-EK-A2PI-01 Cervical Squamous Cell Carcinoma H1936Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.61;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: possibly_damaging, score: 0.729 Missense_Mutation SNP gain . . . 3 142215295 142215295 G A 3:g.142215295G>A ENST00000350721.4:c.5806C>T 0.24 22 70 88 74 34/47 Upper Tract Urothelial Cancer (MSK, Eur Urol 2015) DS-uttcc-078-P Upper Tract Urothelial Carcinoma Q1088E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.062 Missense_Mutation SNP diploid NA NA mskcc.org 3 142266662 142266662 G C 3:g.142266662G>C ENST00000350721.4:c.3262C>G 0.12 41 311 305 18 16/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) DS-uttcc-078-P Upper Tract Urothelial Carcinoma Q1088E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.062 Missense_Mutation SNP diploid NA NA mskcc.org 3 142266662 142266662 G C 3:g.142266662G>C ENST00000350721.4:c.3262C>G 0.88 1.00 311 41 305 18 16/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-FU-A3TQ-01 Cervical Squamous Cell Carcinoma Q1088E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.062 Missense_Mutation SNP diploid . . . 3 142266662 142266662 G C 3:g.142266662G>C ENST00000350721.4:c.3262C>G 0.37 19 33 49 55 16/47 Cholangiocarcinoma (TCGA, PanCancer Atlas) TCGA-W5-AA2Q-01 Intrahepatic Cholangiocarcinoma A2627V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.775;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid . . . 3 142168326 142168326 G A 3:g.142168326G>A ENST00000350721.4:c.7880C>T 0.52 16 15 78 45 47/47 Diffuse Large B-Cell Lymphoma (TCGA, PanCancer Atlas) TCGA-GS-A9TZ-01 Diffuse Large B-Cell Lymphoma, NOS N27K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.631 Missense_Mutation SNP shallowdel 1 . . . 3 142286975 142286975 A T 3:g.142286975A>T ENST00000350721.4:c.81T>A 0.11 46 374 603 379 2/47 Diffuse Large B-Cell Lymphoma (TCGA, PanCancer Atlas) TCGA-GS-A9TW-01 Diffuse Large B-Cell Lymphoma, NOS M320I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.555;SIFT: impact: tolerated_low_confidence, score: 0.53;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain . . . 3 142281284 142281284 C A 3:g.142281284C>A ENST00000350721.4:c.960G>T 0.35 59 112 156 284 4/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CN-A63T-01 Head and Neck Squamous Cell Carcinoma S549C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain 1 . . . 3 142278180 142278180 T A 3:g.142278180T>A ENST00000350721.4:c.1645A>T 0.40 25 38 43 223 7/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-A463-01 Head and Neck Squamous Cell Carcinoma F99L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.11;Polyphen-2: impact: probably_damaging, score: 0.97 Missense_Mutation SNP diploid . . . 3 142281947 142281947 G C 3:g.142281947G>C ENST00000350721.4:c.297C>G 0.27 46 127 181 187 4/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-UF-A7JT-01 Head and Neck Squamous Cell Carcinoma S246F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0.118 Missense_Mutation SNP diploid . . . 3 142281507 142281507 G A 3:g.142281507G>A ENST00000350721.4:c.737C>T 0.10 6 56 64 173 4/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-KU-A6H7-01 Head and Neck Squamous Cell Carcinoma L400F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid . . . 3 142280234 142280234 C G 3:g.142280234C>G ENST00000350721.4:c.1200G>C 0.06 3 51 46 137 5/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CQ-7069-01 Head and Neck Squamous Cell Carcinoma L987I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0.283 Missense_Mutation SNP gain . . . 3 142268991 142268991 G T 3:g.142268991G>T ENST00000350721.4:c.2959C>A 0.17 11 54 81 85 14/47 Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012) 2334187 Small Cell Lung Cancer A1931P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA JHU 3 142215310 142215310 C G 3:g.142215310C>G ENST00000350721.4:c.5791G>C 197 34/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-5L-AAT0-01 Breast Invasive Lobular Carcinoma E1840Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.81;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP diploid . . . 3 142217479 142217479 C G 3:g.142217479C>G ENST00000350721.4:c.5518G>C 0.07 9 126 46 139 32/47 Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) HN_63058 Head and Neck Squamous Cell Carcinoma E1840Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.81;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP Unknown Unknown broad.mit.edu 3 142217479 142217479 C G 3:g.142217479C>G ENST00000350721.4:c.5518G>C 0.13 8 54 86 32/47 Pediatric Wilms' Tumor (TARGET, 2018) TARGET-50-PAJMKJ-01 Wilms' Tumor R2425Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 3 Somatic Valid TARGET 3 142178144 142178144 C T 3:g.142178144C>T ENST00000350721.4:c.7274G>A 0.75 12 4 6 43/47 Pediatric Wilms' Tumor (TARGET, 2018) TARGET-50-PAJNCZ-01 Wilms' Tumor R2425Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 3 Somatic Valid TARGET 3 142178144 142178144 C T 3:g.142178144C>T ENST00000350721.4:c.7274G>A 0.45 5 6 2 43/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP14-13487-T1 Chondroblastic Osteosarcoma R2425Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 3 NA NA . 3 142178144 142178144 C T 3:g.142178144C>T ENST00000350721.4:c.7274G>A 239 43/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-70532-T2 Anaplastic ependymoma R2425Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 3 NA NA . 3 142178144 142178144 C T 3:g.142178144C>T ENST00000350721.4:c.7274G>A 9058 43/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-89172-T1 Pineal Germ Cell Tumor R2425Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.615;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 3 NA NA . 3 142178144 142178144 C T 3:g.142178144C>T ENST00000350721.4:c.7274G>A 220 43/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-44-T Cutaneous Squamous Cell Carcinoma S65F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.823 Missense_Mutation SNP 1 Somatic Untested hgsc.bcm.edu 3 142285061 142285061 G A 3:g.142285061G>A ENST00000350721.4:c.194C>T 0.13 26 181 183 3847 3/47 Skin Cutaneous Melanoma (Yale, Nat Genet 2012) YUPROST Cutaneous Melanoma S65F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.823 Missense_Mutation SNP 1 somatic NA yale.edu 3 142285061 142285061 G A 3:g.142285061G>A ENST00000350721.4:c.194C>T 941 3/47 The Angiosarcoma Project (Provisional, July 2020) RP-1447_ASCProject_YqsAUeFb_T1_v2_Exome Angiosarcoma S65F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.823 Missense_Mutation SNP diploid 1 __UNKNOWN__ NA __UNKNOWN__ 3 142285061 142285061 G A 3:g.142285061G>A ENST00000350721.4:c.194C>T 1466 3/47 Primary Central Nervous System Lymphoma (Mayo Clinic, Clin Cancer Res 2015) PCNSL_29 Diffuse Large B-Cell Lymphoma, NOS R432C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.226 Missense_Mutation SNP NA NA Mayo Clinic 3 142280140 142280140 G A 3:g.142280140G>A ENST00000350721.4:c.1294C>T 179 5/47 Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-L5-A8NM-01 Esophageal Adenocarcinoma R432C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.226 Missense_Mutation SNP diploid . . . 3 142280140 142280140 G A 3:g.142280140G>A ENST00000350721.4:c.1294C>T 0.22 0.02 18 64 1 61 1432 5/47 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) SC_9021-Tumor Prostate Adenocarcinoma R215P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0.071 Missense_Mutation SNP amp 1 Somatic Untested broad.mit.edu 3 142281600 142281600 C G 3:g.142281600C>G ENST00000350721.4:c.644G>C 0.02 4 211 142 4/47 Pancreatic Adenocarcinoma (QCMG, Nature 2016) ICGC_0408 Pancreatic Adenocarcinoma V1502A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.69;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.612 Missense_Mutation SNP 1 Somatic NA qcmg.uq.edu.au 3 142232479 142232479 A G 3:g.142232479A>G ENST00000350721.4:c.4505T>C 26 26/47 Neuroendocrine Prostate Cancer (Multi-Institute, Nat Med 2016) WCMC121_1_C Castration-Resistant Prostate Cancer R960Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.85;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA Weill Cornell Medical College 3 142269071 142269071 C T 3:g.142269071C>T ENST00000350721.4:c.2879G>A 0.36 8 14 30 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BG-A222-01 Uterine Endometrioid Carcinoma R2066W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.34;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: probably_damaging, score: 0.939 Missense_Mutation SNP diploid . . . 3 142204007 142204007 G A 3:g.142204007G>A ENST00000350721.4:c.6196C>T 0.47 9 10 36 4274 36/47 Stomach Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-BR-8680-01 Tubular Stomach Adenocarcinoma H2203N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.525;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142186856 142186856 G T 3:g.142186856G>T ENST00000350721.4:c.6607C>A 0.28 38 100 109 5414 39/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AAC8-01 Hepatocellular Carcinoma K525M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.08;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142278251 142278251 T A 3:g.142278251T>A ENST00000350721.4:c.1574A>T 0.27 29 80 147 509 7/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AACQ-01 Hepatocellular Carcinoma Q1020L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.26;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP diploid . . . 3 142268433 142268433 T A 3:g.142268433T>A ENST00000350721.4:c.3059A>T 0.45 162 200 446 206 15/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-CC-A9FS-01 Hepatocellular Carcinoma S472C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.293 Missense_Mutation SNP diploid . . . 3 142279231 142279231 G C 3:g.142279231G>C ENST00000350721.4:c.1415C>G 0.40 50 76 195 98 6/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-UB-A7MB-01 Hepatocellular Carcinoma H1302L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.6;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.778 Missense_Mutation SNP diploid . . . 3 142253962 142253962 T A 3:g.142253962T>A ENST00000350721.4:c.3905A>T 0.51 50 49 92 1321 21/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-UB-A7MB-01 Hepatocellular Carcinoma Q351H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.645;SIFT: impact: tolerated_low_confidence, score: 0.26;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142281191 142281191 C A 3:g.142281191C>A ENST00000350721.4:c.1053G>T 0.50 87 87 211 1321 4/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AACF-01 Hepatocellular Carcinoma I2122M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.23;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.276 Missense_Mutation SNP diploid . . . 3 142188365 142188365 T C 3:g.142188365T>C ENST00000350721.4:c.6366A>G 0.44 101 126 129 116 38/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-UB-A7MA-01 Hepatocellular Carcinoma C1514F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP shallowdel . . . 3 142232443 142232443 C A 3:g.142232443C>A ENST00000350721.4:c.4541G>T 0.30 60 138 282 70 26/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-A3A8-01 Hepatocellular Carcinoma K690N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0.15 Missense_Mutation SNP diploid . . . 3 142275233 142275233 C G 3:g.142275233C>G ENST00000350721.4:c.2070G>C 0.32 42 88 144 112 9/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-DD-AAEI-01 Hepatocellular Carcinoma R1929W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.555;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid . . . 3 142215316 142215316 T A 3:g.142215316T>A ENST00000350721.4:c.5785A>T 0.42 22 31 65 114 34/47 Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) TCGA-2Y-A9GT-01 Hepatocellular Carcinoma V915I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.054 Missense_Mutation SNP diploid . . . 3 142272131 142272131 C T 3:g.142272131C>T ENST00000350721.4:c.2743G>A 0.21 24 92 124 83 13/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IB-7651-01 Pancreatic Adenocarcinoma E2011K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.555;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP diploid . . . 3 142212021 142212021 C T 3:g.142212021C>T ENST00000350721.4:c.6031G>A 0.19 52 222 67 14306 35/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IB-7651-01 Pancreatic Adenocarcinoma P1530Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.75;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid . . . 3 142232395 142232395 G T 3:g.142232395G>T ENST00000350721.4:c.4589C>A 0.17 60 294 99 14306 26/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IB-7651-01 Pancreatic Adenocarcinoma R968I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.178 Missense_Mutation SNP diploid . . . 3 142269047 142269047 C A 3:g.142269047C>A ENST00000350721.4:c.2903G>T 0.16 73 387 85 14306 14/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-IB-7651-01 Pancreatic Adenocarcinoma D155E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated_low_confidence, score: 0.23;Polyphen-2: impact: benign, score: 0.081 Missense_Mutation SNP diploid . . . 3 142281779 142281779 G T 3:g.142281779G>T ENST00000350721.4:c.465C>A 0.15 87 494 130 14306 4/47 Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-HZ-8001-01 Pancreatic Adenocarcinoma N2279T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.965;SIFT: impact: tolerated, score: 0.39;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP diploid . . . 3 142185227 142185227 T G 3:g.142185227T>G ENST00000350721.4:c.6836A>C 0.10 50 446 89 43 40/47 Pheochromocytoma and Paraganglioma (TCGA, PanCancer Atlas) TCGA-WB-A81P-01 Pheochromocytoma F269S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid . . . 3 142281438 142281438 A G 3:g.142281438A>G ENST00000350721.4:c.806T>C 0.34 25 48 75 20 4/47 Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-DZ-6132-01 Papillary Renal Cell Carcinoma S87N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.895;SIFT: impact: tolerated_low_confidence, score: 0.64;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain 1 . . . 3 142284995 142284995 C T 3:g.142284995C>T ENST00000350721.4:c.260G>A 0.20 19 76 88 319 3/47 Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-B9-5156-01 Papillary Renal Cell Carcinoma D1001Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.49;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP gain 1 . . . 3 142268491 142268491 C A 3:g.142268491C>A ENST00000350721.4:c.3001G>T 0.45 33 41 56 75 15/47 SUMMIT - Neratinib Basket Study (Multi-Institute, Nature 2018) 53 Bladder Urothelial Carcinoma R1895T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.46;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.984 Missense_Mutation SNP diploid NA NA NA 3 142215909 142215909 C G 3:g.142215909C>G ENST00000350721.4:c.5684G>C 0.08 46 545 27 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001610-T01-IM3 Bladder Urothelial Carcinoma D1071N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.591 Missense_Mutation SNP diploid NA NA NA 3 142266713 142266713 C T 3:g.142266713C>T ENST00000350721.4:c.3211G>A 0.05 52 986 6 16/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-AA6X-01 Bladder Urothelial Carcinoma D1071N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.591 Missense_Mutation SNP diploid . . . 3 142266713 142266713 C T 3:g.142266713C>T ENST00000350721.4:c.3211G>A 0.21 12 44 56 109 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003261-T01-IM5 Bladder Urothelial Carcinoma E1375K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.48;Polyphen-2: impact: benign, score: 0.013 Missense_Mutation SNP diploid NA NA NA 3 142242864 142242864 C T 3:g.142242864C>T ENST00000350721.4:c.4123G>A 0.09 38 380 44 22/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-GH-A9DA-01 Cervical Squamous Cell Carcinoma E1375K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.48;Polyphen-2: impact: benign, score: 0.013 Missense_Mutation SNP gain . . . 3 142242864 142242864 C T 3:g.142242864C>T ENST00000350721.4:c.4123G>A 0.54 35 30 75 77 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003433-T01-IM5 Bladder Urothelial Carcinoma E2224K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.665;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.293 Missense_Mutation SNP diploid NA NA NA 3 142186793 142186793 C T 3:g.142186793C>T ENST00000350721.4:c.6670G>A 0.40 174 263 63 39/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003529-T01-IM5 Glioblastoma Multiforme S902F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.73;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP diploid 1 NA NA NA 3 142272169 142272169 G A 3:g.142272169G>A ENST00000350721.4:c.2705C>T 0.11 81 685 196 13/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT011-T1 Skin Cancer, Non-Melanoma S902F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.73;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP 1 NA NA NA 3 142272169 142272169 G A 3:g.142272169G>A ENST00000350721.4:c.2705C>T 0.22 21 74 709 13/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS023-T1 Skin Cancer, Non-Melanoma S902F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.73;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP 1 NA NA NA 3 142272169 142272169 G A 3:g.142272169G>A ENST00000350721.4:c.2705C>T 0.49 128 133 1738 13/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-K4-AAQO-01 Bladder Urothelial Carcinoma S902F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.73;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP gain 1 . . . 3 142272169 142272169 G A 3:g.142272169G>A ENST00000350721.4:c.2705C>T 0.24 19 60 49 232 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003561-T01-IM5 Bladder Urothelial Carcinoma A1554V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.57;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP diploid NA NA NA 3 142231293 142231293 G A 3:g.142231293G>A ENST00000350721.4:c.4661C>T 0.08 22 269 24 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003562-T01-IM5 Lung Adenocarcinoma L1361_G1362delinsFW OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Missense_Mutation DNP diploid NA NA NA 3 142242903 142242904 CC AA 3:g.142242903_142242904delinsAA ENST00000350721.4:c.4083_4084delinsTT 0.48 419 453 37 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003920-T01-IM5 Bladder Urothelial Carcinoma L1454Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.69;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid NA NA NA 3 142238532 142238532 A T 3:g.142238532A>T ENST00000350721.4:c.4361T>A 0.36 190 342 24 24/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004755-T01-IM5 Bladder Urothelial Carcinoma S944T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.66;Polyphen-2: impact: benign, score: 0.373 Missense_Mutation SNP diploid NA NA NA 3 142269119 142269119 C G 3:g.142269119C>G ENST00000350721.4:c.2831G>C 0.64 420 237 51 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004924-T01-IM5 Bladder Urothelial Carcinoma S1648F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.125;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.905 Missense_Mutation SNP diploid NA NA NA 3 142226861 142226861 G A 3:g.142226861G>A ENST00000350721.4:c.4943C>T 0.18 90 417 28 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005359-T01-IM5 Bladder Urothelial Carcinoma M1617K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.665;SIFT: impact: tolerated, score: 0.94;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142231104 142231104 A T 3:g.142231104A>T ENST00000350721.4:c.4850T>A 0.44 91 114 40 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005359-T01-IM5 Bladder Urothelial Carcinoma I1421S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.93;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.891 Missense_Mutation SNP diploid NA NA NA 3 142241574 142241574 A C 3:g.142241574A>C ENST00000350721.4:c.4262T>G 0.31 70 158 40 23/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005619-T02-IM5 Cutaneous Squamous Cell Carcinoma L2042F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid NA NA NA 3 142204079 142204079 G A 3:g.142204079G>A ENST00000350721.4:c.6124C>T 0.25 187 555 54 36/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-LH-A9QB-06 Cutaneous Melanoma L2042F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid . . . 3 142204079 142204079 G A 3:g.142204079G>A ENST00000350721.4:c.6124C>T 0.39 12 19 36 208 36/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006233-T01-IM5 Bladder Urothelial Carcinoma E1360Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.475;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.033 Missense_Mutation SNP diploid NA NA NA 3 142242909 142242909 C G 3:g.142242909C>G ENST00000350721.4:c.4078G>C 0.12 80 610 19 22/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006645-T01-IM5 Bladder Urothelial Carcinoma S1102F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.963 Missense_Mutation SNP diploid NA NA NA 3 142266619 142266619 G A 3:g.142266619G>A ENST00000350721.4:c.3305C>T 0.06 37 616 39 16/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2933 Diffuse Large B-Cell Lymphoma, NOS S1102F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.963 Missense_Mutation SNP NA NA Duke University 3 142266619 142266619 G A 3:g.142266619G>A ENST00000350721.4:c.3305C>T 22 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006714-T01-IM5 Bladder Urothelial Carcinoma G492E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid NA NA NA 3 142279171 142279171 C T 3:g.142279171C>T ENST00000350721.4:c.1475G>A 0.28 246 640 62 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007319-T01-IM5 Basaloid Penile Squamous Cell Carcinoma L806I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.011 Missense_Mutation SNP diploid NA NA NA 3 142272783 142272783 G T 3:g.142272783G>T ENST00000350721.4:c.2416C>A 0.36 217 394 421 11/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A1E0-01 Uterine Endometrioid Carcinoma L806I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.011 Missense_Mutation SNP diploid . . . 3 142272783 142272783 G T 3:g.142272783G>T ENST00000350721.4:c.2416C>A 0.12 3 22 36 4833 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009736-T01-IM5 Cutaneous Melanoma S1843F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.755;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP diploid NA NA NA 3 142217469 142217469 G A 3:g.142217469G>A ENST00000350721.4:c.5528C>T 0.38 298 496 14 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010967-T01-IM5 Uterine Endometrioid Carcinoma G840V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: possibly_damaging, score: 0.757 Missense_Mutation SNP diploid NA NA NA 3 142272680 142272680 C A 3:g.142272680C>A ENST00000350721.4:c.2519G>T 0.08 55 675 162 11/47 Thyroid Carcinoma (TCGA, PanCancer Atlas) TCGA-J8-A3O1-01 Papillary Thyroid Cancer G840V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: possibly_damaging, score: 0.757 Missense_Mutation SNP diploid . . . 3 142272680 142272680 C A 3:g.142272680C>A ENST00000350721.4:c.2519G>T 0.07 3 39 28 17 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011244-T01-IM5 Lung Squamous Cell Carcinoma T2461I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.965;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: benign, score: 0.412 Missense_Mutation SNP diploid NA NA NA 3 142177921 142177921 G A 3:g.142177921G>A ENST00000350721.4:c.7382C>T 0.07 70 961 3 44/47 Upper Tract Urothelial Cancer (MSK, Eur Urol 2015) DS-uttcc-045-P Upper Tract Urothelial Carcinoma E2586K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP gain Somatic high mskcc.org 3 142171975 142171975 C T 3:g.142171975C>T ENST00000350721.4:c.7756G>A 0.33 0.0016 549 1121 1 635 19 46/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) DS-uttcc-045-P Upper Tract Urothelial Carcinoma E2586K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP gain Somatic high mskcc.org 3 142171975 142171975 C T 3:g.142171975C>T ENST00000350721.4:c.7756G>A 0.67 1.00 1121 549 635 1 19 46/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-G2-AA3D-01 Bladder Urothelial Carcinoma E2586K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP gain . . . 3 142171975 142171975 C T 3:g.142171975C>T ENST00000350721.4:c.7756G>A 0.09 4 42 46 240 46/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-C4-A0EZ-01 Bladder Urothelial Carcinoma F2341L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.46;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP shallowdel 1 . . . 3 142183957 142183957 G C 3:g.142183957G>C ENST00000350721.4:c.7023C>G 0.64 27 15 68 172 41/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-CF-A47V-01 Bladder Urothelial Carcinoma P13L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP diploid . . . 3 142297509 142297509 G A 3:g.142297509G>A ENST00000350721.4:c.38C>T 0.50 12 12 23 66 1/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-A6AV-01 Bladder Urothelial Carcinoma Q1755E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: possibly_damaging, score: 0.449 Missense_Mutation SNP gain . . . 3 142222229 142222229 G C 3:g.142222229G>C ENST00000350721.4:c.5263C>G 0.37 16 27 22 104 30/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-DK-A6AW-01 Bladder Urothelial Carcinoma Q414H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated_low_confidence, score: 0.12;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142280192 142280192 T G 3:g.142280192T>G ENST00000350721.4:c.1242A>C 0.47 35 39 85 3546 5/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-E7-A541-01 Bladder Urothelial Carcinoma L1528F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.32;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.992 Missense_Mutation SNP gain . . . 3 142232402 142232402 G A 3:g.142232402G>A ENST00000350721.4:c.4582C>T 0.12 6 44 37 422 26/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-E7-A7DU-01 Bladder Urothelial Carcinoma Q1755K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.44;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: possibly_damaging, score: 0.53 Missense_Mutation SNP diploid . . . 3 142222229 142222229 G T 3:g.142222229G>T ENST00000350721.4:c.5263C>A 0.29 10 24 24 242 30/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-GU-A766-01 Bladder Urothelial Carcinoma D1147N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.31 Missense_Mutation SNP diploid . . . 3 142261518 142261518 C T 3:g.142261518C>T ENST00000350721.4:c.3439G>A 0.13 4 27 42 168 17/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-GV-A6ZA-01 Bladder Urothelial Carcinoma E1489Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.41;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: benign, score: 0.114 Missense_Mutation SNP gain . . . 3 142234275 142234275 C G 3:g.142234275C>G ENST00000350721.4:c.4465G>C 0.52 36 33 35 293 25/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-K4-A5RH-01 Bladder Urothelial Carcinoma M2179V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.02;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.633 Missense_Mutation SNP gain . . . 3 142188196 142188196 T C 3:g.142188196T>C ENST00000350721.4:c.6535A>G 0.20 22 87 82 171 38/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-R3-A69X-01 Bladder Urothelial Carcinoma P2135S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.96;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.827 Missense_Mutation SNP gain . . . 3 142188328 142188328 G A 3:g.142188328G>A ENST00000350721.4:c.6403C>T 0.11 9 70 68 200 38/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-UY-A78K-01 Bladder Urothelial Carcinoma E2354V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.415;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP gain . . . 3 142180913 142180913 T A 3:g.142180913T>A ENST00000350721.4:c.7061A>T 0.08 16 188 128 771 42/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D9-A6EA-06 Cutaneous Melanoma R1300C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP shallowdel . . . 3 142253969 142253969 G A 3:g.142253969G>A ENST00000350721.4:c.3898C>T 0.67 26 13 36 541 21/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HC-01 Uterine Endometrioid Carcinoma R1300C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid . . . 3 142253969 142253969 G A 3:g.142253969G>A ENST00000350721.4:c.3898C>T 0.46 12 14 36 12976 21/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A3MU-06 Cutaneous Melanoma T1469I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.755;SIFT: impact: tolerated, score: 0.44;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142234334 142234334 G A 3:g.142234334G>A ENST00000350721.4:c.4406C>T 0.47 15 17 54 418 25/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2MJ-06 Cutaneous Melanoma K2124R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.115;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142188360 142188360 T C 3:g.142188360T>C ENST00000350721.4:c.6371A>G 0.14 8 51 79 1718 38/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2GT-06 Cutaneous Melanoma V1023A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.53;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP diploid 1 . . . 3 142268424 142268424 A G 3:g.142268424A>G ENST00000350721.4:c.3068T>C 0.18 7 31 61 1691 15/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A3AC-06 Cutaneous Melanoma H160Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.7 Missense_Mutation SNP diploid . . . 3 142281766 142281766 G A 3:g.142281766G>A ENST00000350721.4:c.478C>T 0.37 47 81 177 1865 4/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2A2-06 Cutaneous Melanoma R2356C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.4;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.984 Missense_Mutation SNP diploid 1 . . . 3 142180908 142180908 G A 3:g.142180908G>A ENST00000350721.4:c.7066C>T 0.35 0.0067 158 296 1 148 1303 42/47 The Angiosarcoma Project - Count Me In (Nature Medicine, 2020) Angio-ASCProject_lYIMuWu5-Tumor-SM-DACJ9 Angiosarcoma L1834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.956 Missense_Mutation SNP diploid 1 Somatic NA broad.mit.edu 3 142217497 142217497 G A 3:g.142217497G>A ENST00000350721.4:c.5500C>T 868 32/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2MS-06 Cutaneous Melanoma L1834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.956 Missense_Mutation SNP diploid 1 . . . 3 142217497 142217497 G A 3:g.142217497G>A ENST00000350721.4:c.5500C>T 0.27 8 22 31 2462 32/47 The Angiosarcoma Project (Provisional, July 2020) RP-1447_ASCProject_lYIMuWu5_T3_v1_Exome Angiosarcoma L1834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.956 Missense_Mutation SNP diploid 1 __UNKNOWN__ NA __UNKNOWN__ 3 142217497 142217497 G A 3:g.142217497G>A ENST00000350721.4:c.5500C>T 797 32/47 The Angiosarcoma Project (Provisional, July 2020) RP-1447_ASCProject_lYIMuWu5_T1_v1_Exome Angiosarcoma L1834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.956 Missense_Mutation SNP diploid 1 __UNKNOWN__ NA __UNKNOWN__ 3 142217497 142217497 G A 3:g.142217497G>A ENST00000350721.4:c.5500C>T 508 32/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A3AE-06 Cutaneous Melanoma P1985S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.28;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0.101 Missense_Mutation SNP gain 1 . . . 3 142212099 142212099 G A 3:g.142212099G>A ENST00000350721.4:c.5953C>T 0.21 6 23 53 1238 35/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A3AE-06 Cutaneous Melanoma S441F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.41;SIFT: impact: tolerated_low_confidence, score: 0.7;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain 1 . . . 3 142280112 142280112 G A 3:g.142280112G>A ENST00000350721.4:c.1322C>T 0.18 14 62 135 1238 5/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A3JD-06 Cutaneous Melanoma E323K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP diploid . . . 3 142281277 142281277 C T 3:g.142281277C>T ENST00000350721.4:c.967G>A 0.09 11 106 104 1932 4/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2805 Diffuse Large B-Cell Lymphoma, NOS D1298N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.305;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP 1 NA NA Duke University 3 142253975 142253975 C T 3:g.142253975C>T ENST00000350721.4:c.3892G>A 14 21/47 Upper Tract Urothelial Carcinoma (Cornell/Baylor/MDACC, Nat Commun 2019) WCM-UTUC-0784 Upper Tract Urothelial Carcinoma D1298N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.305;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP 1 Somatic NA WCM 3 142253975 142253975 C T 3:g.142253975C>T ENST00000350721.4:c.3892G>A 0.53 25 22 50 207 21/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2M5-06 Cutaneous Melanoma D1298N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.305;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP gain 1 . . . 3 142253975 142253975 C T 3:g.142253975C>T ENST00000350721.4:c.3892G>A 0.24 27 86 88 1969 21/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-DA-A1HY-06 Cutaneous Melanoma M970I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.42;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid 1 . . . 3 142269040 142269040 C G 3:g.142269040C>G ENST00000350721.4:c.2910G>C 0.42 22 30 86 625 14/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-GF-A6C8-06 Cutaneous Melanoma L2306F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.53;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.976 Missense_Mutation SNP diploid 1 . . . 3 142184064 142184064 G A 3:g.142184064G>A ENST00000350721.4:c.6916C>T 0.24 8 25 36 322 41/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A193-06 Cutaneous Melanoma P528L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated_low_confidence, score: 0.13;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142278242 142278242 G A 3:g.142278242G>A ENST00000350721.4:c.1583C>T 0.25 15 44 57 1700 7/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A193-06 Cutaneous Melanoma G882R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.939 Missense_Mutation SNP diploid 1 . . . 3 142272230 142272230 C T 3:g.142272230C>T ENST00000350721.4:c.2644G>A 0.32 14 30 30 1700 13/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-4Z-AA7R-01 Bladder Urothelial Carcinoma S1693I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.255 Missense_Mutation SNP gain . . . 3 142224099 142224099 C A 3:g.142224099C>A ENST00000350721.4:c.5078G>T 0.03 8 225 200 320 29/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-GC-A4ZW-01 Bladder Urothelial Carcinoma I2603M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP gain . . . 3 142168397 142168397 G C 3:g.142168397G>C ENST00000350721.4:c.7809C>G 0.42 16 22 34 622 47/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-A8HD-01 Bladder Urothelial Carcinoma E2209Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.3;SIFT: impact: tolerated, score: 0.47;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP gain . . . 3 142186838 142186838 C G 3:g.142186838C>G ENST00000350721.4:c.6625G>C 0.47 66 73 94 428 39/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-A9SI-01 Bladder Urothelial Carcinoma S1583C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.801 Missense_Mutation SNP gain 1 . . . 3 142231206 142231206 G C 3:g.142231206G>C ENST00000350721.4:c.4748C>G 0.05 5 86 98 320 27/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-A9SM-01 Bladder Urothelial Carcinoma M2266I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.03 Missense_Mutation SNP diploid . . . 3 142185265 142185265 C T 3:g.142185265C>T ENST00000350721.4:c.6798G>A 0.10 6 54 56 218 40/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-A9ST-01 Bladder Urothelial Carcinoma M1174I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.82;SIFT: impact: tolerated, score: 0.21;Polyphen-2: impact: benign, score: 0.208 Missense_Mutation SNP gain . . . 3 142259805 142259805 C A 3:g.142259805C>A ENST00000350721.4:c.3522G>T 0.22 14 51 43 522 18/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-XF-AAMX-01 Bladder Urothelial Carcinoma Y2457S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.65;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP gain . . . 3 142177933 142177933 T G 3:g.142177933T>G ENST00000350721.4:c.7370A>C 0.30 11 26 33 301 44/47 The Metastatic Breast Cancer Project (Provisional, February 2020) MBC-MBCProject_AwukckTD-Tumor-SM-GQADA Breast Invasive Ductal Carcinoma E1849Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.065;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.986 Missense_Mutation SNP diploid 1 Somatic NA broad.mit.edu 3 142217452 142217452 C G 3:g.142217452C>G ENST00000350721.4:c.5545G>C 0.14 7 42 14 32/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-YF-AA3M-01 Bladder Urothelial Carcinoma E1849Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.065;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.986 Missense_Mutation SNP gain 1 . . . 3 142217452 142217452 C G 3:g.142217452C>G ENST00000350721.4:c.5545G>C 0.24 11 34 29 137 32/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-21-5784-01 Lung Squamous Cell Carcinoma G1181V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.95;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.881 Missense_Mutation SNP gain 3 . . . 3 142259785 142259785 C A 3:g.142259785C>A ENST00000350721.4:c.3542G>T 0.13 6 42 27 191 18/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-ZF-A9RL-01 Bladder Urothelial Carcinoma G1181V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.95;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.881 Missense_Mutation SNP diploid 3 . . . 3 142259785 142259785 C A 3:g.142259785C>A ENST00000350721.4:c.3542G>T 0.21 9 33 45 315 18/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2D5-01 Uterine Endometrioid Carcinoma E2103K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.565;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.075 Missense_Mutation SNP diploid 1 . . . 3 142188940 142188940 C T 3:g.142188940C>T ENST00000350721.4:c.6307G>A 0.24 11 34 42 13865 37/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-5L-AAT0-01 Breast Invasive Lobular Carcinoma E2103K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.565;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.075 Missense_Mutation SNP diploid 1 . . . 3 142188940 142188940 C T 3:g.142188940C>T ENST00000350721.4:c.6307G>A 0.19 21 92 41 139 37/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A0LM-01 Uterine Endometrioid Carcinoma R989H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 . . . 3 142268984 142268984 C T 3:g.142268984C>T ENST00000350721.4:c.2966G>A 0.25 15 46 195 13187 14/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-2W-A8YY-01 Cervical Squamous Cell Carcinoma R989H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.65 Missense_Mutation SNP diploid 1 . . . 3 142268984 142268984 C T 3:g.142268984C>T ENST00000350721.4:c.2966G>A 0.41 11 16 39 11306 14/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-21-5784-01 Lung Squamous Cell Carcinoma G1181C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.05;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.554 Missense_Mutation SNP gain 3 . . . 3 142259786 142259786 C A 3:g.142259786C>A ENST00000350721.4:c.3541G>T 0.12 0.04 6 45 1 27 191 18/47 Mesothelioma (TCGA, PanCancer Atlas) TCGA-XT-AASU-01 Pleural Mesothelioma, Biphasic Type R743G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.47;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142274833 142274833 T C 3:g.142274833T>C ENST00000350721.4:c.2227A>G 0.09 5 53 41 41 10/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) s_JC_ucc_030_P Upper Tract Urothelial Carcinoma R215H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 SOMATIC_VS_POOL NA MSK-IMPACT410 3 142281600 142281600 C T 3:g.142281600C>T ENST00000350721.4:c.644G>A 0.49 0.0012 414 433 1 826 24 4/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-F5-6814-01 Rectal Adenocarcinoma R215H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142281600 142281600 C T 3:g.142281600C>T ENST00000350721.4:c.644G>A 0.29 11 27 92 9454 4/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-19-5956-01 Glioblastoma Multiforme R215H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142281600 142281600 C T 3:g.142281600C>T ENST00000350721.4:c.644G>A 0.10 7 60 57 6908 4/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A20C-06 Cutaneous Melanoma K459N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP shallowdel . . . 3 142279269 142279269 C A 3:g.142279269C>A ENST00000350721.4:c.1377G>T 0.09 6 59 69 2073 6/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A05Z-01 Uterine Endometrioid Carcinoma K459N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142279269 142279269 C A 3:g.142279269C>A ENST00000350721.4:c.1377G>T 0.07 14 179 261 7369 6/47 Uterine Carcinosarcoma (TCGA, PanCancer Atlas) TCGA-ND-A4WC-01 Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor K545T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.21;SIFT: impact: tolerated_low_confidence, score: 0.12;Polyphen-2: impact: benign, score: 0.012 Missense_Mutation SNP diploid . . . 3 142278191 142278191 T G 3:g.142278191T>G ENST00000350721.4:c.1634A>C 0.30 13 30 42 3667 7/47 Uterine Carcinosarcoma (TCGA, PanCancer Atlas) TCGA-ND-A4WC-01 Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor R373I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP diploid . . . 3 142281126 142281126 C A 3:g.142281126C>A ENST00000350721.4:c.1118G>T 0.32 0.02 22 47 1 49 3667 4/47 Adrenocortical Carcinoma (TCGA, PanCancer Atlas) TCGA-OR-A5KB-01 Adrenocortical Carcinoma M1517I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.14;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP gain 1 . . . 3 142232433 142232433 C G 3:g.142232433C>G ENST00000350721.4:c.4551G>C 0.19 79 340 360 1859 26/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CV-7446-01 Head and Neck Squamous Cell Carcinoma M593K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.87;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.196 Missense_Mutation SNP . . . 3 142277573 142277573 A T 3:g.142277573A>T ENST00000350721.4:c.1778T>A 0.38 192 313 274 123 8/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FR-A728-01 Cutaneous Melanoma L1945F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.725;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP . . . 3 142215268 142215268 G A 3:g.142215268G>A ENST00000350721.4:c.5833C>T 0.08 7 79 112 332 34/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-BF-A3DM-01 Cutaneous Melanoma D1879N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.36;Polyphen-2: impact: possibly_damaging, score: 0.659 Missense_Mutation SNP 1 . . . 3 142215958 142215958 C T 3:g.142215958C>T ENST00000350721.4:c.5635G>A 0.36 27 47 52 381 33/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D9-A3Z4-01 Cutaneous Melanoma S2233T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.66;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP 3 . . . 3 142185365 142185365 C G 3:g.142185365C>G ENST00000350721.4:c.6698G>C 0.40 20 30 28 125 40/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A194-01 Cutaneous Melanoma L337H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.781 Missense_Mutation SNP 1 . . . 3 142281234 142281234 A T 3:g.142281234A>T ENST00000350721.4:c.1010T>A 0.28 19 48 91 1131 4/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-32-T Cutaneous Squamous Cell Carcinoma S2449L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.275;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: probably_damaging, score: 0.978 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142178072 142178072 G A 3:g.142178072G>A ENST00000350721.4:c.7346C>T 0.14 19 114 99 1377 43/47 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) PRAD-01115245-Tumor-SM-6WZF3 Prostate Adenocarcinoma H1684R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.135;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.188 Missense_Mutation SNP diploid Unknown NA broad.mit.edu 3 142224126 142224126 T C 3:g.142224126T>C ENST00000350721.4:c.5051A>G 0.17 34 165 55 29/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3502 Diffuse Large B-Cell Lymphoma, NOS R1451W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.47;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP NA NA Duke University 3 142238542 142238542 G A 3:g.142238542G>A ENST00000350721.4:c.4351C>T 9 24/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3562 Diffuse Large B-Cell Lymphoma, NOS R1451W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.47;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP NA NA Duke University 3 142238542 142238542 G A 3:g.142238542G>A ENST00000350721.4:c.4351C>T 7 24/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3022 Colorectal Adenocarcinoma R1451W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.47;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.021 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142238542 142238542 G A 3:g.142238542G>A ENST00000350721.4:c.4351C>T 168 24/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2476 Diffuse Large B-Cell Lymphoma, NOS I97F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP NA NA Duke University 3 142284966 142284966 T A 3:g.142284966T>A ENST00000350721.4:c.289A>T 5 3/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-YEX889 Adenoid Cystic Carcinoma I97F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP SOMATIC unknown Foundation 3 142284966 142284966 T A 3:g.142284966T>A ENST00000350721.4:c.289A>T 0.62 679 416 11 3/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000055-T01-IM3 Uterine Clear Cell Carcinoma S1571F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid NA NA NA 3 142231242 142231242 G A 3:g.142231242G>A ENST00000350721.4:c.4712C>T 0.06 46 748 6 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000276-T01-IM3 Breast Invasive Lobular Carcinoma S272L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.62;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281429 142281429 G A 3:g.142281429G>A ENST00000350721.4:c.815C>T 0.13 47 303 5 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000614-T01-IM3 Uterine Endometrioid Carcinoma Y1956N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid 1 NA NA NA 3 142215235 142215235 A T 3:g.142215235A>T ENST00000350721.4:c.5866T>A 0.23 114 385 33 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001351-T01-IM3 Breast Invasive Lobular Carcinoma E1027K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.412 Missense_Mutation SNP diploid NA NA NA 3 142268413 142268413 C T 3:g.142268413C>T ENST00000350721.4:c.3079G>A 0.23 100 334 19 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002858-T01-IM3 Breast Invasive Ductal Carcinoma E1888K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.74;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0.236 Missense_Mutation SNP amp NA NA NA 3 142215931 142215931 C T 3:g.142215931C>T ENST00000350721.4:c.5662G>A 0.22 49 169 32 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010786-T01-IM5 Cervical Squamous Cell Carcinoma E1888K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.74;SIFT: impact: tolerated, score: 0.23;Polyphen-2: impact: benign, score: 0.236 Missense_Mutation SNP diploid NA NA NA 3 142215931 142215931 C T 3:g.142215931C>T ENST00000350721.4:c.5662G>A 0.30 309 726 7 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003054-T01-IM3 Breast Invasive Ductal Carcinoma E306K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: benign, score: 0.045 Missense_Mutation SNP diploid NA NA NA 3 142281328 142281328 C T 3:g.142281328C>T ENST00000350721.4:c.916G>A 0.13 105 725 30 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003493-T01-IM5 Breast Invasive Ductal Carcinoma H1709Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.365;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: possibly_damaging, score: 0.447 Missense_Mutation SNP diploid NA NA NA 3 142224052 142224052 G A 3:g.142224052G>A ENST00000350721.4:c.5125C>T 0.58 508 375 7 29/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003493-T01-IM5 Breast Invasive Ductal Carcinoma A1507D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.425;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.844 Missense_Mutation SNP diploid NA NA NA 3 142232464 142232464 G T 3:g.142232464G>T ENST00000350721.4:c.4520C>A 0.29 190 466 7 26/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003647-T01-IM5 Breast Invasive Ductal Carcinoma E3Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0.063 Missense_Mutation SNP diploid NA NA NA 3 142297540 142297540 C G 3:g.142297540C>G ENST00000350721.4:c.7G>C 0.30 157 362 11 1/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004379-T01-IM5 Uterine Endometrioid Carcinoma A2101E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.02 Missense_Mutation SNP diploid NA NA NA 3 142188945 142188945 G T 3:g.142188945G>T ENST00000350721.4:c.6302C>A 0.33 163 327 439 37/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004379-T01-IM5 Uterine Endometrioid Carcinoma D1187G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.37;Polyphen-2: impact: benign, score: 0.063 Missense_Mutation SNP diploid 1 NA NA NA 3 142259767 142259767 T C 3:g.142259767T>C ENST00000350721.4:c.3560A>G 0.32 143 304 439 18/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004433-T01-IM5 Breast Invasive Ductal Carcinoma Q257E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.46;SIFT: impact: tolerated_low_confidence, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281475 142281475 G C 3:g.142281475G>C ENST00000350721.4:c.769C>G 0.09 71 732 9 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004537-T01-IM5 Breast Invasive Ductal Carcinoma E799K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.115 Missense_Mutation SNP diploid NA NA NA 3 142272804 142272804 C T 3:g.142272804C>T ENST00000350721.4:c.2395G>A 0.25 140 420 16 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004850-T01-IM5 Breast Invasive Lobular Carcinoma G2527E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.905;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid NA NA NA 3 142176521 142176521 C T 3:g.142176521C>T ENST00000350721.4:c.7580G>A 0.30 405 942 7 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004987-T01-IM5 Breast Invasive Lobular Carcinoma E2626K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.95;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168330 142168330 C T 3:g.142168330C>T ENST00000350721.4:c.7876G>A 0.06 30 510 44 47/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3385 Diffuse Large B-Cell Lymphoma, NOS E2626K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.95;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA Duke University 3 142168330 142168330 C T 3:g.142168330C>T ENST00000350721.4:c.7876G>A 18 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005021-T01-IM5 Upper Tract Urothelial Carcinoma T2605A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168393 142168393 T C 3:g.142168393T>C ENST00000350721.4:c.7813A>G 0.06 45 734 212 47/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2163 Diffuse Large B-Cell Lymphoma, NOS T2605A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA Duke University 3 142168393 142168393 T C 3:g.142168393T>C ENST00000350721.4:c.7813A>G 26 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005423-T01-IM5 Breast Invasive Ductal Carcinoma L2599I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168411 142168411 G T 3:g.142168411G>T ENST00000350721.4:c.7795C>A 0.09 113 1198 7 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005419-T01-IM5 Breast Mixed Ductal and Lobular Carcinoma E2012Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.39;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.903 Missense_Mutation SNP diploid NA NA NA 3 142212018 142212018 C G 3:g.142212018C>G ENST00000350721.4:c.6034G>C 0.08 29 320 22 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005799-T01-IM5 Breast Invasive Ductal Carcinoma D986N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.382 Missense_Mutation SNP diploid NA NA NA 3 142268994 142268994 C T 3:g.142268994C>T ENST00000350721.4:c.2956G>A 0.07 75 1065 5 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000138-T01-IM3 Breast Mixed Ductal and Lobular Carcinoma E362Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.669 Missense_Mutation SNP diploid NA NA NA 3 142281160 142281160 C G 3:g.142281160C>G ENST00000350721.4:c.1084G>C 0.23 403 1347 33 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006668-T01-IM5 Breast Invasive Ductal Carcinoma S61F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.48 Missense_Mutation SNP diploid NA NA NA 3 142285073 142285073 G A 3:g.142285073G>A ENST00000350721.4:c.182C>T 0.09 97 949 4 3/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007231-T01-IM5 Breast Invasive Ductal Carcinoma Q1286_Q1293del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA NA 3 142253986 142254009 TGTTGAATGGCCTTCATAGAGAGC - 3:g.142253986_142254009del ENST00000350721.4:c.3858_3881del 0.28 212 535 5 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007577-T01-IM5 Breast Invasive Lobular Carcinoma D699N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.053 Missense_Mutation SNP diploid 1 NA NA NA 3 142274965 142274965 C T 3:g.142274965C>T ENST00000350721.4:c.2095G>A 0.14 58 363 29 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007577-T01-IM5 Breast Invasive Lobular Carcinoma D564N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: tolerated_low_confidence, score: 0.12;Polyphen-2: impact: benign, score: 0.115 Missense_Mutation SNP diploid NA NA NA 3 142278135 142278135 C T 3:g.142278135C>T ENST00000350721.4:c.1690G>A 0.15 102 560 29 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008082-T01-IM5 Breast Invasive Ductal Carcinoma K338T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.79;SIFT: impact: tolerated_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.15 Missense_Mutation SNP diploid NA NA NA 3 142281231 142281231 T G 3:g.142281231T>G ENST00000350721.4:c.1013A>C 0.23 36 118 17 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008488-T02-IM5 Breast Invasive Ductal Carcinoma R1015P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.806 Missense_Mutation SNP diploid 3 NA NA NA 3 142268448 142268448 C G 3:g.142268448C>G ENST00000350721.4:c.3044G>C 0.06 48 817 8 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009122-T01-IM5 Breast Invasive Ductal Carcinoma E2564G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.375;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 1 NA NA NA 3 142172040 142172040 T C 3:g.142172040T>C ENST00000350721.4:c.7691A>G 0.41 343 497 3 46/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009364-T01-IM5 Invasive Breast Carcinoma D589H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated, score: 0.4;Polyphen-2: impact: benign, score: 0.278 Missense_Mutation SNP diploid NA NA NA 3 142277586 142277586 C G 3:g.142277586C>G ENST00000350721.4:c.1765G>C 0.16 149 793 28 8/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009941-T01-IM5 Breast Invasive Ductal Carcinoma R645T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.15 Missense_Mutation SNP diploid NA NA NA 3 142275369 142275369 C G 3:g.142275369C>G ENST00000350721.4:c.1934G>C 0.33 250 498 8 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004388-T02-IM5 Breast Invasive Ductal Carcinoma L1633V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.93;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.634 Missense_Mutation SNP diploid NA NA NA 3 142226907 142226907 G C 3:g.142226907G>C ENST00000350721.4:c.4897C>G 0.14 135 827 27 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003903-T02-IM5 Breast Invasive Ductal Carcinoma E2438Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.275;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid 3 NA NA NA 3 142178106 142178106 C G 3:g.142178106C>G ENST00000350721.4:c.7312G>C 0.26 186 532 25 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004824-T01-IM5 Breast Invasive Ductal Carcinoma R2425_F2427del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA NA 3 142178138 142178146 AATTCTCGG - 3:g.142178138_142178146del ENST00000350721.4:c.7272_7280del 0.09 61 642 11 43/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat62-Tumor-SM-4DK2N Cutaneous Melanoma A2181T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.575;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.981 Missense_Mutation SNP NA NA NA 3 142188190 142188190 C T 3:g.142188190C>T ENST00000350721.4:c.6541G>A 0.04 8 214 1701 38/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3622 Diffuse Large B-Cell Lymphoma, NOS A2181T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.575;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.981 Missense_Mutation SNP NA NA Duke University 3 142188190 142188190 C T 3:g.142188190C>T ENST00000350721.4:c.6541G>A 23 38/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3384 Diffuse Large B-Cell Lymphoma, NOS S1142G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP NA NA Duke University 3 142261533 142261533 T C 3:g.142261533T>C ENST00000350721.4:c.3424A>G 4 17/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3520 Diffuse Large B-Cell Lymphoma, NOS S1142G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP NA NA Duke University 3 142261533 142261533 T C 3:g.142261533T>C ENST00000350721.4:c.3424A>G 5 17/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3779 Diffuse Large B-Cell Lymphoma, NOS S1142G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP NA NA Duke University 3 142261533 142261533 T C 3:g.142261533T>C ENST00000350721.4:c.3424A>G 7 17/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3812 Diffuse Large B-Cell Lymphoma, NOS S1142G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP NA NA Duke University 3 142261533 142261533 T C 3:g.142261533T>C ENST00000350721.4:c.3424A>G 16 17/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-FP94C3 Adenoid Cystic Carcinoma S1142G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP SOMATIC unknown Foundation 3 142261533 142261533 T C 3:g.142261533T>C ENST00000350721.4:c.3424A>G 0.48 258 276 9 17/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BK-A6W3-01 Uterine Endometrioid Carcinoma R1179I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.39;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid . . . 3 142259791 142259791 C A 3:g.142259791C>A ENST00000350721.4:c.3536G>T 0.38 32 53 34 3921 18/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001074-T01-IM3 Bladder Urothelial Carcinoma H2517D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.1;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.928 Missense_Mutation SNP diploid NA NA NA 3 142176552 142176552 G C 3:g.142176552G>C ENST00000350721.4:c.7549C>G 0.20 211 848 20 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002311-T01-IM3 Bladder Urothelial Carcinoma Q231H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281551 142281551 C G 3:g.142281551C>G ENST00000350721.4:c.693G>C 0.19 252 1083 16 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003719-T01-IM5 Bladder Urothelial Carcinoma E833Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.01;SIFT: impact: tolerated, score: 0.41;Polyphen-2: impact: benign, score: 0.053 Missense_Mutation SNP diploid NA NA NA 3 142272702 142272702 C G 3:g.142272702C>G ENST00000350721.4:c.2497G>C 0.39 302 482 49 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003871-T01-IM5 Cutaneous Melanoma G877E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid NA NA NA 3 142272485 142272485 C T 3:g.142272485C>T ENST00000350721.4:c.2630G>A 0.48 333 363 92 12/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003972-T01-IM5 Sarcomatoid Carcinoma of the Lung L1307F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.065;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142253946 142253946 C G 3:g.142253946C>G ENST00000350721.4:c.3921G>C 0.72 238 93 6 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005021-T01-IM5 Upper Tract Urothelial Carcinoma S727Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP diploid NA NA NA 3 142274880 142274880 G T 3:g.142274880G>T ENST00000350721.4:c.2180C>A 0.16 158 824 212 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005366-T01-IM5 Cutaneous Melanoma H117Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated_low_confidence, score: 0.24;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142281895 142281895 G A 3:g.142281895G>A ENST00000350721.4:c.349C>T 0.45 184 225 151 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005456-T01-IM5 Lung Squamous Cell Carcinoma S2313C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.72;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142184042 142184042 G C 3:g.142184042G>C ENST00000350721.4:c.6938C>G 0.15 107 598 6 41/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005544-T02-IM5 Lung Adenocarcinoma G2403V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.515;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: possibly_damaging, score: 0.823 Missense_Mutation SNP diploid NA NA NA 3 142178210 142178210 C A 3:g.142178210C>A ENST00000350721.4:c.7208G>T 0.08 42 461 6 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005783-T01-IM5 Cancer of Unknown Primary K2026M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.7;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: probably_damaging, score: 0.942 Missense_Mutation SNP diploid NA NA NA 3 142211975 142211975 T A 3:g.142211975T>A ENST00000350721.4:c.6077A>T 0.28 122 310 67 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006155-T02-IM5 Cutaneous Melanoma H1737Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.555;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.78 Missense_Mutation SNP diploid NA NA NA 3 142222283 142222283 G A 3:g.142222283G>A ENST00000350721.4:c.5209C>T 0.27 83 227 74 30/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006785-T01-IM5 Small Cell Lung Cancer D558Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142278153 142278153 C A 3:g.142278153C>A ENST00000350721.4:c.1672G>T 0.22 126 438 11 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010385-T01-IM5 Lung Adenocarcinoma D558Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142278153 142278153 C A 3:g.142278153C>A ENST00000350721.4:c.1672G>T 0.17 173 820 8 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007041-T01-IM5 Cholangiocarcinoma I599T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.115 Missense_Mutation SNP diploid NA NA NA 3 142277555 142277555 A G 3:g.142277555A>G ENST00000350721.4:c.1796T>C 0.24 37 118 6 8/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007561-T01-IM5 Cutaneous Melanoma G2403R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.66;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP diploid NA NA NA 3 142178211 142178211 C T 3:g.142178211C>T ENST00000350721.4:c.7207G>A 0.44 205 258 33 43/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007876-T01-IM5 Cutaneous Melanoma H2361Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.31;SIFT: impact: tolerated, score: 0.26;Polyphen-2: impact: benign, score: 0.068 Missense_Mutation SNP diploid NA NA NA 3 142180893 142180893 G A 3:g.142180893G>A ENST00000350721.4:c.7081C>T 0.27 168 449 38 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008009-T01-IM5 Cutaneous Melanoma A1266V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.385;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid NA NA NA 3 142254972 142254972 G A 3:g.142254972G>A ENST00000350721.4:c.3797C>T 0.24 121 390 10 20/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008353-T01-IM5 Head and Neck Squamous Cell Carcinoma C2536W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.535;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142176493 142176493 A C 3:g.142176493A>C ENST00000350721.4:c.7608T>G 0.14 214 1350 25 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008684-T01-IM5 Intrahepatic Cholangiocarcinoma R2001Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.955;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.027 Missense_Mutation SNP diploid NA NA NA 3 142212050 142212050 C T 3:g.142212050C>T ENST00000350721.4:c.6002G>A 0.07 46 606 18 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009105-T01-IM5 Melanoma of Unknown Primary A879V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.39;Polyphen-2: impact: benign, score: 0.241 Missense_Mutation SNP diploid NA NA NA 3 142272238 142272238 G A 3:g.142272238G>A ENST00000350721.4:c.2636C>T 0.14 88 550 34 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009189-T01-IM5 Cutaneous Melanoma L1903F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid NA NA NA 3 142215886 142215886 G A 3:g.142215886G>A ENST00000350721.4:c.5707C>T 0.25 65 190 67 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010701-T01-IM5 Gallbladder Cancer A1793T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: tolerated, score: 0.48;Polyphen-2: impact: benign, score: 0.033 Missense_Mutation SNP diploid 2 NA NA NA 3 142218472 142218472 C T 3:g.142218472C>T ENST00000350721.4:c.5377G>A 0.40 466 704 7 31/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011476-T01-IM5 Cutaneous Melanoma P304S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 NA NA NA 3 142281334 142281334 G A 3:g.142281334G>A ENST00000350721.4:c.910C>T 0.20 123 478 7 4/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE032-T1 Skin Cancer, Non-Melanoma P304S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 1 NA NA NA 3 142281334 142281334 G A 3:g.142281334G>A ENST00000350721.4:c.910C>T 0.17 50 248 140 4/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-WS010-T6 Skin Cancer, Non-Melanoma P304S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 1 NA NA NA 3 142281334 142281334 G A 3:g.142281334G>A ENST00000350721.4:c.910C>T 0.09 20 195 19 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012001-T01-IM5 Lung Adenocarcinoma L1528V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.32;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.902 Missense_Mutation SNP diploid NA NA NA 3 142232402 142232402 G C 3:g.142232402G>C ENST00000350721.4:c.4582C>G 0.13 111 771 9 26/47 Medulloblastoma (Sickkids, Nature 2016) MB-REC-34 Desmoplastic/Nodular Medulloblastoma R968K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.26;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP NA NA The Hospital for Sick Children 3 142269047 142269047 C T 3:g.142269047C>T ENST00000350721.4:c.2903G>A 45 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE090-T1 Skin Cancer, Non-Melanoma V2491I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.53;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.141 Missense_Mutation SNP NA NA NA 3 142177832 142177832 C T 3:g.142177832C>T ENST00000350721.4:c.7471G>A 0.52 113 104 44 44/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-06-5416-01 Glioblastoma Multiforme V2491I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.53;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.141 Missense_Mutation SNP gain . . . 3 142177832 142177832 C T 3:g.142177832C>T ENST00000350721.4:c.7471G>A 0.18 19 84 92 12177 44/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT004-T1 Skin Cancer, Non-Melanoma S2183L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.245;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: possibly_damaging, score: 0.764 Missense_Mutation SNP NA NA NA 3 142188183 142188183 G A 3:g.142188183G>A ENST00000350721.4:c.6548C>T 0.33 19 39 108 38/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-14-1794-01 Glioblastoma Multiforme S2183L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.245;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: possibly_damaging, score: 0.764 Missense_Mutation SNP gain . . . 3 142188183 142188183 G A 3:g.142188183G>A ENST00000350721.4:c.6548C>T 0.04 7 161 297 196 38/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A1C9-01 Uterine Endometrioid Carcinoma R2459H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.45;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP diploid 2 . . . 3 142177927 142177927 C T 3:g.142177927C>T ENST00000350721.4:c.7376G>A 0.47 22 25 41 965 44/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1542 Poorly Differentiated Carcinoma, NOS R2459H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.45;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.99 Missense_Mutation SNP 2 NA NA University of Michigan 3 142177927 142177927 C T 3:g.142177927C>T ENST00000350721.4:c.7376G>A 0.02 0.0017 23 1030 1 602 36 44/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT001-T1 Skin Cancer, Non-Melanoma R1904W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.12;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP NA NA NA 3 142215883 142215883 G A 3:g.142215883G>A ENST00000350721.4:c.5710C>T 0.21 22 84 1093 33/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_496 Colorectal Adenocarcinoma R1904W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.12;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142215883 142215883 G A 3:g.142215883G>A ENST00000350721.4:c.5710C>T 112 33/47 Oral Squamous Cell Carcinoma (MD Anderson, Cancer Discov 2013) OSCJM-PT37-513-T Head and Neck Squamous Cell CarcinomaÊ G1713D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.245;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 Somatic Valid hgsc.bcm.edu 3 142224039 142224039 C T 3:g.142224039C>T ENST00000350721.4:c.5138G>A 70 29/47 Hepatocellular Carcinomas (INSERM, Nat Genet 2015) CHC121T Hepatocellular Carcinoma H1594L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.015;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP 1 NA NA inserm.fr 3 142231173 142231173 T A 3:g.142231173T>A ENST00000350721.4:c.4781A>T 119 27/47 Hepatocellular Carcinomas (INSERM, Nat Genet 2015) CHC097T Hepatocellular Carcinoma M1553I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.125;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.196 Missense_Mutation SNP NA NA inserm.fr 3 142231295 142231295 C A 3:g.142231295C>A ENST00000350721.4:c.4659G>T 100 27/47 Hepatocellular Carcinomas (INSERM, Nat Genet 2015) CHC1201T Hepatocellular Carcinoma C124F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0.033 Missense_Mutation SNP NA NA inserm.fr 3 142281873 142281873 C A 3:g.142281873C>A ENST00000350721.4:c.371G>T 54 4/47 Hepatocellular Carcinomas (INSERM, Nat Genet 2015) CHC197T Hepatocellular Carcinoma Q1269R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.725;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0.02 Missense_Mutation SNP 1 NA Valid inserm.fr 3 142254963 142254963 T C 3:g.142254963T>C ENST00000350721.4:c.3806A>G 72 20/47 Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014) NPC37F Nasopharyngeal Carcinoma L2638R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.525;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA NA 3 142168293 142168293 A C 3:g.142168293A>C ENST00000350721.4:c.7913T>G 55 47/47 Thymic Epithelial Tumors (NCI, Nat Genet 2014) CMPC11-3104 Thymic Epithelial Tumor H2151D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.185;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.894 Missense_Mutation SNP NA NA nci.nih.gov 3 142188280 142188280 G C 3:g.142188280G>C ENST00000350721.4:c.6451C>G 37 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005457-T01-IM5 Gallbladder Cancer V1450_R1451del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA NA 3 142238539 142238544 CCCGAA - 3:g.142238539_142238544del ENST00000350721.4:c.4349_4354del 0.58 397 291 4 24/47 Medulloblastoma (Sickkids, Nature 2016) MB-REC-26 Medulloblastoma N1995S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.2;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP NA NA The Hospital for Sick Children 3 142212068 142212068 T C 3:g.142212068T>C ENST00000350721.4:c.5984A>G 2113 35/47 Medulloblastoma (Sickkids, Nature 2016) MB-REC-42 Medulloblastoma G2474A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP 1 NA NA The Hospital for Sick Children 3 142177882 142177882 C G 3:g.142177882C>G ENST00000350721.4:c.7421G>C 60 44/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) CAC_2987 Ampullary Carcinoma C326Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated_low_confidence, score: 0.39;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP Somatic Untested Baylor College of Medicine 3 142281267 142281267 C T 3:g.142281267C>T ENST00000350721.4:c.977G>A 0.28 73 189 58 1245 4/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) CAC_3117 Ampullary Carcinoma R1201H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.22;SIFT: impact: tolerated, score: 0.27;Polyphen-2: impact: benign, score: 0.014 Missense_Mutation SNP Somatic Untested Baylor College of Medicine 3 142257447 142257447 C T 3:g.142257447C>T ENST00000350721.4:c.3602G>A 0.19 37 155 125 2626 19/47 Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) DUOAC_781 Ampullary Carcinoma I2481T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.195;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.94 Missense_Mutation SNP Somatic Untested Baylor College of Medicine 3 142177861 142177861 A G 3:g.142177861A>G ENST00000350721.4:c.7442T>C 0.24 92 298 262 1744 44/47 Bladder Urothelial Carcinoma (DFCI/MSKCC, Cancer Discov 2014) DFCI-04_R Bladder Urothelial Carcinoma R1015G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.667 Missense_Mutation SNP 3 NA NA NA 3 142268449 142268449 G C 3:g.142268449G>C ENST00000350721.4:c.3043C>G 323 15/47 Bladder Urothelial Carcinoma (DFCI/MSKCC, Cancer Discov 2014) MSKCC-0500_R Bladder Urothelial Carcinoma A1642P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.165;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP NA NA NA 3 142226880 142226880 C G 3:g.142226880C>G ENST00000350721.4:c.4924G>C 688 28/47 Renal Non-Clear Cell Carcinoma (Genentech, Nat Genet 2014) 9266912 Renal Non-Clear Cell Carcinoma L610M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.01;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP NA NA Genentech.Inc 3 142277523 142277523 A T 3:g.142277523A>T ENST00000350721.4:c.1828T>A 65 8/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) AC-DFCI_AC_PD1-1-Tumor-SM-9LRI9 Anal Squamous Cell Carcinoma Q2137K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.66;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.02 Missense_Mutation SNP NA NA NA 3 142188322 142188322 G T 3:g.142188322G>T ENST00000350721.4:c.6409C>A 0.01 7 550 238 38/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) BLCA-IM01-Tumor-SM-79XD9 Bladder Urothelial Carcinoma S834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142272698 142272698 G A 3:g.142272698G>A ENST00000350721.4:c.2501C>T 0.19 28 116 134 11/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE015-T2 Skin Cancer, Non-Melanoma S834F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142272698 142272698 G A 3:g.142272698G>A ENST00000350721.4:c.2501C>T 0.10 22 196 55 11/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) HNSCC-258-Tumor-SM-AXGAI Sinonasal Squamous Cell Carcinoma E1840K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.81;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.988 Missense_Mutation SNP NA NA NA 3 142217479 142217479 C T 3:g.142217479C>T ENST00000350721.4:c.5518G>A 0.16 25 131 372 32/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat04-Tumor-SM-4DJZZ Cutaneous Melanoma R861G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP NA NA NA 3 142272534 142272534 T C 3:g.142272534T>C ENST00000350721.4:c.2581A>G 0.07 15 186 415 12/47 Metastatic Melanoma (DFCI, Science 2015) Pat04 Cutaneous Melanoma R861G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142272534 142272534 T C 3:g.142272534T>C ENST00000350721.4:c.2581A>G 0.08 19 229 137 329 12/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat110-Tumor-SM-4CU6X Cutaneous Melanoma P2271S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.93;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.53 Missense_Mutation SNP NA NA NA 3 142185252 142185252 G A 3:g.142185252G>A ENST00000350721.4:c.6811C>T 0.48 79 87 6502 40/47 Metastatic Melanoma (DFCI, Science 2015) Pat110 Cutaneous Melanoma P2271S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.93;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.53 Missense_Mutation SNP shallowdel Somatic Untested MSKCC 3 142185252 142185252 G A 3:g.142185252G>A ENST00000350721.4:c.6811C>T 0.47 100 112 190 6180 40/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat127-Tumor-SM-5X2R5 Cutaneous Melanoma S476F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated_low_confidence, score: 0.74;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142279219 142279219 G A 3:g.142279219G>A ENST00000350721.4:c.1427C>T 0.44 155 196 119 6/47 Metastatic Melanoma (DFCI, Science 2015) Pat127 Cutaneous Melanoma S476F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated_low_confidence, score: 0.74;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142279219 142279219 G A 3:g.142279219G>A ENST00000350721.4:c.1427C>T 0.44 189 241 223 108 6/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat132-Tumor-SM-5VWJA Cutaneous Melanoma A1291T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.829 Missense_Mutation SNP NA NA NA 3 142253996 142253996 C T 3:g.142253996C>T ENST00000350721.4:c.3871G>A 0.10 7 62 2290 21/47 Metastatic Melanoma (DFCI, Science 2015) Pat132 Cutaneous Melanoma A1291T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.829 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142253996 142253996 C T 3:g.142253996C>T ENST00000350721.4:c.3871G>A 0.09 7 72 29 1841 21/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat132-Tumor-SM-5VWJA Cutaneous Melanoma P315S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: possibly_damaging, score: 0.82 Missense_Mutation SNP NA NA NA 3 142281301 142281301 G A 3:g.142281301G>A ENST00000350721.4:c.943C>T 0.07 5 63 2290 4/47 Metastatic Melanoma (DFCI, Science 2015) Pat132 Cutaneous Melanoma P315S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: possibly_damaging, score: 0.82 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142281301 142281301 G A 3:g.142281301G>A ENST00000350721.4:c.943C>T 0.07 6 75 44 1841 4/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat138-Tumor-SM-7A155 Cutaneous Melanoma R2454K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.49;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.948 Missense_Mutation SNP NA NA NA 3 142177942 142177942 C T 3:g.142177942C>T ENST00000350721.4:c.7361G>A 0.06 4 60 5887 44/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat138-Tumor-SM-7A155 Cutaneous Melanoma G94D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.36;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142284974 142284974 C T 3:g.142284974C>T ENST00000350721.4:c.281G>A 0.24 65 205 5887 3/47 Metastatic Melanoma (DFCI, Science 2015) Pat138 Cutaneous Melanoma G94D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.36;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142284974 142284974 C T 3:g.142284974C>T ENST00000350721.4:c.281G>A 0.25 0.0045 96 285 1 219 5025 3/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat151-Tumor-SM-7A15A Cutaneous Melanoma G1074R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0.389 Missense_Mutation SNP NA NA NA 3 142266704 142266704 C T 3:g.142266704C>T ENST00000350721.4:c.3220G>A 0.03 5 192 2581 16/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat151-Tumor-SM-7A15A Cutaneous Melanoma P1637L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.67;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP NA NA NA 3 142226894 142226894 G A 3:g.142226894G>A ENST00000350721.4:c.4910C>T 0.08 15 180 2581 28/47 Metastatic Melanoma (DFCI, Science 2015) Pat151 Cutaneous Melanoma P1637L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.67;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142226894 142226894 G A 3:g.142226894G>A ENST00000350721.4:c.4910C>T 0.06 17 252 224 1720 28/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat174-Tumor-SM-5VOB4 Cutaneous Melanoma L767F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0.026 Missense_Mutation SNP NA NA NA 3 142274761 142274761 G A 3:g.142274761G>A ENST00000350721.4:c.2299C>T 0.19 27 118 663 10/47 Metastatic Melanoma (DFCI, Science 2015) Pat174 Cutaneous Melanoma L767F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0.026 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142274761 142274761 G A 3:g.142274761G>A ENST00000350721.4:c.2299C>T 0.17 30 142 62 656 10/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT052-T1 Skin Cancer, Non-Melanoma L767F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0.026 Missense_Mutation SNP NA NA NA 3 142274761 142274761 G A 3:g.142274761G>A ENST00000350721.4:c.2299C>T 0.08 8 88 2019 10/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat54-Tumor-SM-4DK2F Cutaneous Melanoma K2311Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.545;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.976 Missense_Mutation SNP NA NA NA 3 142184049 142184049 T G 3:g.142184049T>G ENST00000350721.4:c.6931A>C 0.43 79 105 887 41/47 Metastatic Melanoma (DFCI, Science 2015) Pat54 Cutaneous Melanoma K2311Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.545;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.976 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142184049 142184049 T G 3:g.142184049T>G ENST00000350721.4:c.6931A>C 0.43 94 125 130 841 41/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat58-Tumor-SM-4DK2J Acral Melanoma S115F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP NA NA NA 3 142281900 142281900 G A 3:g.142281900G>A ENST00000350721.4:c.344C>T 0.12 65 488 2726 4/47 Metastatic Melanoma (DFCI, Science 2015) Pat58 Cutaneous Melanoma S115F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142281900 142281900 G A 3:g.142281900G>A ENST00000350721.4:c.344C>T 0.12 85 614 928 1896 4/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS062-T1 Skin Cancer, Non-Melanoma S115F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP NA NA NA 3 142281900 142281900 G A 3:g.142281900G>A ENST00000350721.4:c.344C>T 0.28 64 165 115 4/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) MEL-IPI_Pat71-Tumor-SM-4DK2W Melanoma of Unknown Primary S670T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated, score: 0.4;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP NA NA NA 3 142275294 142275294 C G 3:g.142275294C>G ENST00000350721.4:c.2009G>C 0.06 23 354 822 9/47 Metastatic Melanoma (DFCI, Science 2015) Pat71 Cutaneous Melanoma S670T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated, score: 0.4;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142275294 142275294 C G 3:g.142275294C>G ENST00000350721.4:c.2009G>C 0.06 24 405 506 704 9/47 MSS Mixed Solid Tumors (Broad/Dana-Farber, Nat Genet 2018) PR4092_T Melanoma T1525I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.844 Missense_Mutation SNP NA NA NA 3 142232410 142232410 G A 3:g.142232410G>A ENST00000350721.4:c.4574C>T 0.11 12 93 3486 26/47 Melanoma (MSKCC, NEJM 2014) PR4092 Melanoma T1525I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.844 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142232410 142232410 G A 3:g.142232410G>A ENST00000350721.4:c.4574C>T 0.13 14 96 127 3225 26/47 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_41_Post Melanoma T2276I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.165;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA broad.mit.edu 3 142185236 142185236 G A 3:g.142185236G>A ENST00000350721.4:c.6827C>T 0.07 18 246 5838 40/47 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_66_Pre Melanoma L2145F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.11;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP NA NA broad.mit.edu 3 142188296 142188296 C A 3:g.142188296C>A ENST00000350721.4:c.6435G>T 0.05 5 98 1301 38/47 Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) Pat_24_Pre Melanoma A494V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA broad.mit.edu 3 142279165 142279165 G A 3:g.142279165G>A ENST00000350721.4:c.1481C>T 0.02 4 220 1471 6/47 Gastric Adenocarcinoma (TMUCIH, PNAS 2015) PGM26 Esophagogastric Adenocarcinoma A1885T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.56;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: possibly_damaging, score: 0.542 Missense_Mutation SNP NA NA NA 3 142215940 142215940 C T 3:g.142215940C>T ENST00000350721.4:c.5653G>A 121 33/47 Gastric Adenocarcinoma (TMUCIH, PNAS 2015) PGM28 Esophagogastric Adenocarcinoma I75M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP NA NA NA 3 142285030 142285030 G C 3:g.142285030G>C ENST00000350721.4:c.225C>G 103 3/47 Gastric Adenocarcinoma (TMUCIH, PNAS 2015) PGM65 Esophagogastric Adenocarcinoma Q661H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142275320 142275320 C A 3:g.142275320C>A ENST00000350721.4:c.1983G>T 1121 9/47 Pancreatic Neuroendocrine Tumors (Multi-Institute, Nature 2017) QCMG-66-ICGC_0452-ICGC-ABMB-20120905-031 Pancreatic Neuroendocrine Tumor D1785Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.955;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 Somatic Valid qcmg.uq.edu.au 3 142218496 142218496 C A 3:g.142218496C>A ENST00000350721.4:c.5353G>T 63 31/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP14-13487-T1 Chondroblastic Osteosarcoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 239 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-10597-T1 Non-seminomatous Mixed Germ Cell Tumor M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 280 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-18928-T1 Hepatoblastoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 297 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-51609-T1 B-Lymphoblastic Leukemia/Lymphoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 273 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-54215-T1 Neuroblastoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 268 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-63375-T1 Acute Myeloid Leukemia M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 236 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-70532-T2 Anaplastic ependymoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 9058 4/47 Pediatric Pan-cancer (Columbia U, Genome Med 2016) PIP15-89172-T1 Pineal Germ Cell Tumor M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 NA NA . 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 220 4/47 Intrahepatic Cholangiocarcinoma (Shanghai, Nat Commun 2014) ihch_smmu_69 Intrahepatic Cholangiocarcinoma M211T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.63;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 4 Somatic NA http://www.wuxiapptec.com 3 142281612 142281612 A G 3:g.142281612A>G ENST00000350721.4:c.632T>C 52 4/47 Urothelial Carcinoma (Cornell/Trento, Nat Gen 2016) WCM407_1 Bladder/Urinary Tract C742F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.424 Missense_Mutation SNP gain Somatic Untested THE CARYL AND ISRAEL ENGLANDER INSTITUTE FOR PRECISION MEDICINE 3 142274835 142274835 C A 3:g.142274835C>A ENST00000350721.4:c.2225G>T 353 10/47 Urothelial Carcinoma (Cornell/Trento, Nat Gen 2016) WCM407_2 Bladder/Urinary Tract C742F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.424 Missense_Mutation SNP gain Somatic Untested THE CARYL AND ISRAEL ENGLANDER INSTITUTE FOR PRECISION MEDICINE 3 142274835 142274835 C A 3:g.142274835C>A ENST00000350721.4:c.2225G>T 334 10/47 Breast Invasive Carcinoma (Broad, Nature 2012) BR-V-027 Infiltrating Ductal Carcinoma D1572H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP Somatic Valid broad.mit.edu 3 142231240 142231240 C G 3:g.142231240C>G ENST00000350721.4:c.4714G>C 114 27/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2846 Breast Invasive Ductal Carcinoma H160R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.794 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142281765 142281765 T C 3:g.142281765T>C ENST00000350721.4:c.479A>G 6 4/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1072 Penile Squamous Cell Carcinoma H160R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.794 Missense_Mutation SNP NA NA University of Michigan 3 142281765 142281765 T C 3:g.142281765T>C ENST00000350721.4:c.479A>G 0.16 0.0095 38 196 1 104 317 4/47 Breast Cancer (MSKCC, NPJ Breast Cancer 2019) s_DS_bkm_077_T Invasive Breast Carcinoma E254G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.081 Missense_Mutation SNP diploid SOMATIC_VS_POOL NA MSK-IMPACT341 3 142281483 142281483 T C 3:g.142281483T>C ENST00000350721.4:c.761A>G 0.51 213 202 2120 10 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6107 Breast Invasive Lobular Carcinoma E254G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.081 Missense_Mutation SNP diploid NA NA METABRIC 3 142281483 142281483 T C 3:g.142281483T>C ENST00000350721.4:c.761A>G 13 4/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S06-38853-TP-S09-31237-NT Cutaneous Squamous Cell Carcinoma H1250Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.889 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142255021 142255021 G A 3:g.142255021G>A ENST00000350721.4:c.3748C>T 188 20/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S07-16280-TP-NT Cutaneous Squamous Cell Carcinoma D2154N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.09;SIFT: impact: tolerated, score: 0.37;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142188271 142188271 C T 3:g.142188271C>T ENST00000350721.4:c.6460G>A 35 38/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S10-47754-TP-S12-22512-NT Cutaneous Squamous Cell Carcinoma L354F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.97;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.127 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142281184 142281184 G A 3:g.142281184G>A ENST00000350721.4:c.1060C>T 111 4/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S12-23181-TP-NT Cutaneous Squamous Cell Carcinoma V1384L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.435;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.422 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142242837 142242837 C A 3:g.142242837C>A ENST00000350721.4:c.4150G>T 59 22/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S10-24679-TP-NT Cutaneous Squamous Cell Carcinoma S1742F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.48;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.931 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142222267 142222267 G A 3:g.142222267G>A ENST00000350721.4:c.5225C>T 46 30/47 Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) S12-17796-TP-NT Cutaneous Squamous Cell Carcinoma P1189L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP Somatic Untested broad.mit.edu 3 142259761 142259761 G A 3:g.142259761G>A ENST00000350721.4:c.3566C>T 24 18/47 Desmoplastic Melanoma (Broad Institute, Nat Genet 2015) Au2 Desmoplastic Melanoma E1251K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.495 Missense_Mutation SNP NA NA www.broadinstitute.org 3 142255018 142255018 C T 3:g.142255018C>T ENST00000350721.4:c.3751G>A 1034 20/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-20-T Cutaneous Squamous Cell Carcinoma R2544C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.36;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 Somatic Untested hgsc.bcm.edu 3 142176471 142176471 G A 3:g.142176471G>A ENST00000350721.4:c.7630C>T 0.18 18 83 71 2411 45/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-44-T Cutaneous Squamous Cell Carcinoma G2398A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.34;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142178225 142178225 C G 3:g.142178225C>G ENST00000350721.4:c.7193G>C 0.11 10 78 85 3847 43/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-44-T Cutaneous Squamous Cell Carcinoma Q2144H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.865;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.338 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142188299 142188299 T A 3:g.142188299T>A ENST00000350721.4:c.6432A>T 0.12 17 128 129 3847 38/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-41-T Cutaneous Squamous Cell Carcinoma P1985L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.907 Missense_Mutation SNP 1 Somatic Untested hgsc.bcm.edu 3 142212098 142212098 G A 3:g.142212098G>A ENST00000350721.4:c.5954C>T 0.15 26 150 115 2262 35/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-29-T Cutaneous Squamous Cell Carcinoma M1518R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.335 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142232431 142232431 A C 3:g.142232431A>C ENST00000350721.4:c.4553T>G 0.23 94 311 244 3405 26/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-49-T Cutaneous Squamous Cell Carcinoma P953L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.795;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: benign, score: 0.1 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142269092 142269092 G A 3:g.142269092G>A ENST00000350721.4:c.2858C>T 0.10 22 205 223 3335 14/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-44-T Cutaneous Squamous Cell Carcinoma E410D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated_low_confidence, score: 0.13;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142280204 142280204 C G 3:g.142280204C>G ENST00000350721.4:c.1230G>C 0.09 13 126 142 3847 5/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-46-T Cutaneous Squamous Cell Carcinoma D286N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.19;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142281388 142281388 C T 3:g.142281388C>T ENST00000350721.4:c.856G>A 0.19 15 66 84 325 4/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-10-T Cutaneous Squamous Cell Carcinoma P80S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.785;SIFT: impact: tolerated_low_confidence, score: 0.4;Polyphen-2: impact: benign, score: 0.056 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142285017 142285017 G A 3:g.142285017G>A ENST00000350721.4:c.238C>T 0.29 98 241 239 2429 3/47 Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) CSCC-11-T Cutaneous Squamous Cell Carcinoma D60G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated_low_confidence, score: 0.32;Polyphen-2: impact: benign, score: 0.294 Missense_Mutation SNP Somatic Untested hgsc.bcm.edu 3 142285076 142285076 T C 3:g.142285076T>C ENST00000350721.4:c.179A>G 0.12 20 146 152 3139 3/47 Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018) DLBCL-RICOVER_533 Germinal Center B-Cell Type A2384T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.05;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: possibly_damaging, score: 0.543 Missense_Mutation SNP NA NA broad.mit.edu 3 142180824 142180824 C T 3:g.142180824C>T ENST00000350721.4:c.7150G>A 0.44 81 104 82 42/47 Liver Hepatocellular Carcinoma (AMC, Hepatology 2014) H080895 Hepatocellular Adenoma W1490R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.62;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid 1 Somatic Unknown LGGM 3 142234272 142234272 A T 3:g.142234272A>T ENST00000350721.4:c.4468T>A 0.29 12 30 104 25/47 Lung Adenocarcinoma (TSP, Nature 2008) luad_tsp_17754 Lung Adenocarcinoma G2618E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.825;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP 2 NA NA broad.mit.edu 3 142168353 142168353 C T 3:g.142168353C>T ENST00000350721.4:c.7853G>A 2 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000132-T01-IM3 Small Cell Lung Cancer D1298Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP diploid 1 NA NA NA 3 142253975 142253975 C A 3:g.142253975C>A ENST00000350721.4:c.3892G>T 0.30 355 819 8 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000271-T01-IM3 Uterine Leiomyosarcoma Y575H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP diploid NA NA NA 3 142278102 142278102 A G 3:g.142278102A>G ENST00000350721.4:c.1723T>C 0.46 403 473 4 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000283-T01-IM3 Upper Tract Urothelial Carcinoma E838Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.878 Missense_Mutation SNP diploid NA NA NA 3 142272687 142272687 C G 3:g.142272687C>G ENST00000350721.4:c.2512G>C 0.19 204 893 9 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000290-T01-IM3 Bladder Urothelial Carcinoma E2252K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.035;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.046 Missense_Mutation SNP diploid NA NA NA 3 142185309 142185309 C T 3:g.142185309C>T ENST00000350721.4:c.6754G>A 0.17 103 520 22 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000384-T01-IM3 Upper Tract Urothelial Carcinoma R1444S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.575;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.045 Missense_Mutation SNP diploid NA NA NA 3 142238561 142238561 C G 3:g.142238561C>G ENST00000350721.4:c.4332G>C 0.12 96 717 8 24/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000387-T01-IM3 Small Cell Lung Cancer M946V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.42;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142269114 142269114 T C 3:g.142269114T>C ENST00000350721.4:c.2836A>G 0.56 354 275 5 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000455-T01-IM3 Small Cell Lung Cancer G2522V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.455;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.742 Missense_Mutation SNP diploid NA NA NA 3 142176536 142176536 C A 3:g.142176536C>A ENST00000350721.4:c.7565G>T 0.14 76 455 3 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0000944-T01-IM3 Glioblastoma Multiforme H2477Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.92 Missense_Mutation SNP diploid NA NA NA 3 142177874 142177874 G A 3:g.142177874G>A ENST00000350721.4:c.7429C>T 0.07 50 634 111 44/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001042-T01-IM3 Cutaneous Squamous Cell Carcinoma A1151V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.695;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.42 Missense_Mutation SNP diploid NA NA NA 3 142259875 142259875 G A 3:g.142259875G>A ENST00000350721.4:c.3452C>T 0.18 119 545 263 18/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001209-T01-IM3 Cancer of Unknown Primary K2195N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated, score: 0.27;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP diploid NA NA NA 3 142186878 142186878 C A 3:g.142186878C>A ENST00000350721.4:c.6585G>T 0.15 44 248 17 39/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001522-T01-IM3 Renal Clear Cell Carcinoma Q1286H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.78;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.85 Missense_Mutation SNP diploid NA NA NA 3 142254009 142254009 C A 3:g.142254009C>A ENST00000350721.4:c.3858G>T 0.06 36 583 6 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004201-T01-IM5 Lung Squamous Cell Carcinoma Q1286H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.78;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.85 Missense_Mutation SNP amp NA NA NA 3 142254009 142254009 C A 3:g.142254009C>A ENST00000350721.4:c.3858G>T 0.15 187 1087 9 21/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001753-T01-IM3 Papillary Renal Cell Carcinoma Q1627L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.046 Missense_Mutation SNP diploid NA NA NA 3 142226924 142226924 T A 3:g.142226924T>A ENST00000350721.4:c.4880A>T 0.23 139 472 2 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001802-T01-IM3 Lung Squamous Cell Carcinoma Q1869R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated, score: 0.51;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142215987 142215987 T C 3:g.142215987T>C ENST00000350721.4:c.5606A>G 0.21 166 642 6 33/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002178-T01-IM3 Lung Squamous Cell Carcinoma V696F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.113 Missense_Mutation SNP diploid NA NA NA 3 142274974 142274974 C A 3:g.142274974C>A ENST00000350721.4:c.2086G>T 0.20 121 478 13 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002186-T01-IM3 Bladder Urothelial Carcinoma L1506F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: tolerated, score: 0.53;Polyphen-2: impact: benign, score: 0.023 Missense_Mutation SNP diploid NA NA NA 3 142232468 142232468 G A 3:g.142232468G>A ENST00000350721.4:c.4516C>T 0.17 180 882 48 26/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002186-T01-IM3 Bladder Urothelial Carcinoma E25K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.795;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP diploid NA NA NA 3 142286983 142286983 C T 3:g.142286983C>T ENST00000350721.4:c.73G>A 0.15 174 978 48 2/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004263-T01-IM5 Spindle Cell Carcinoma of the Lung E25K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.795;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.125 Missense_Mutation SNP diploid NA NA NA 3 142286983 142286983 C T 3:g.142286983C>T ENST00000350721.4:c.73G>A 0.30 218 506 21 2/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002421-T01-IM3 Lung Adenocarcinoma A2002S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.81;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP diploid 3 NA NA NA 3 142212048 142212048 C A 3:g.142212048C>A ENST00000350721.4:c.6004G>T 0.10 92 822 22 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002466-T01-IM3 Pleural Mesothelioma R2533P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.31;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142176503 142176503 C G 3:g.142176503C>G ENST00000350721.4:c.7598G>C 0.23 105 356 3 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002695-T01-IM3 Glioblastoma Multiforme H1258Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.52;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.623 Missense_Mutation SNP diploid NA NA NA 3 142254997 142254997 G A 3:g.142254997G>A ENST00000350721.4:c.3772C>T 0.22 180 626 93 20/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003249-T01-IM5 Intimal Sarcoma D1568E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.28;SIFT: impact: tolerated, score: 0.53;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid NA NA NA 3 142231250 142231250 G C 3:g.142231250G>C ENST00000350721.4:c.4704C>G 0.10 92 800 6 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003292-T01-IM5 Glioblastoma Multiforme I677M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.24 Missense_Mutation SNP diploid NA NA NA 3 142275272 142275272 G C 3:g.142275272G>C ENST00000350721.4:c.2031C>G 0.40 120 177 63 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003402-T01-IM5 Lung Squamous Cell Carcinoma V53L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.5;SIFT: impact: tolerated_low_confidence, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142285098 142285098 C A 3:g.142285098C>A ENST00000350721.4:c.157G>T 0.08 29 326 19 3/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003529-T01-IM5 Glioblastoma Multiforme E1988K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.46;SIFT: impact: tolerated, score: 0.9;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142212090 142212090 C T 3:g.142212090C>T ENST00000350721.4:c.5962G>A 0.06 44 684 196 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003529-T01-IM5 Glioblastoma Multiforme R1611K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.83;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142231122 142231122 C T 3:g.142231122C>T ENST00000350721.4:c.4832G>A 0.26 157 439 196 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003529-T01-IM5 Glioblastoma Multiforme L1211F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.31;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP diploid NA NA NA 3 142257418 142257418 G A 3:g.142257418G>A ENST00000350721.4:c.3631C>T 0.27 185 499 196 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003803-T01-IM5 Cancer of Unknown Primary L1139V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.165;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid NA NA NA 3 142261542 142261542 G C 3:g.142261542G>C ENST00000350721.4:c.3415C>G 0.13 139 894 6 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003862-T01-IM5 Angiosarcoma G736R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.53;Polyphen-2: impact: benign, score: 0.084 Missense_Mutation SNP diploid NA NA NA 3 142274854 142274854 C T 3:g.142274854C>T ENST00000350721.4:c.2206G>A 0.10 89 788 4 10/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003900-T01-IM5 Glioblastoma Multiforme E1423K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.055;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.972 Missense_Mutation SNP diploid NA NA NA 3 142238626 142238626 C T 3:g.142238626C>T ENST00000350721.4:c.4267G>A 0.20 96 377 417 24/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003900-T01-IM5 Glioblastoma Multiforme G1074E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: probably_damaging, score: 0.91 Missense_Mutation SNP diploid NA NA NA 3 142266703 142266703 C T 3:g.142266703C>T ENST00000350721.4:c.3221G>A 0.22 120 427 417 16/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003900-T01-IM5 Glioblastoma Multiforme T653I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.79;SIFT: impact: tolerated, score: 0.4;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142275345 142275345 G A 3:g.142275345G>A ENST00000350721.4:c.1958C>T 0.40 225 338 417 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003900-T01-IM5 Glioblastoma Multiforme V372M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.12;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid NA NA NA 3 142281130 142281130 C T 3:g.142281130C>T ENST00000350721.4:c.1114G>A 0.18 121 567 417 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0003900-T01-IM5 Glioblastoma Multiforme P13S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated_low_confidence, score: 0.05;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid NA NA NA 3 142297510 142297510 G A 3:g.142297510G>A ENST00000350721.4:c.37C>T 0.21 76 280 417 1/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004092-T01-IM5 Merkel Cell Carcinoma R1179K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.49;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.291 Missense_Mutation SNP diploid NA NA NA 3 142259791 142259791 C T 3:g.142259791C>T ENST00000350721.4:c.3536G>A 0.40 417 616 93 18/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004085-T01-IM5 Bladder Urothelial Carcinoma I127M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.809 Missense_Mutation SNP diploid NA NA NA 3 142281863 142281863 G C 3:g.142281863G>C ENST00000350721.4:c.381C>G 0.18 78 359 21 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004380-T01-IM5 Upper Tract Urothelial Carcinoma G2639D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.42;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168290 142168290 C T 3:g.142168290C>T ENST00000350721.4:c.7916G>A 0.07 24 310 26 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004895-T01-IM5 Pancreatic Adenocarcinoma I1264L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.035;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.163 Missense_Mutation SNP diploid NA NA NA 3 142254979 142254979 T A 3:g.142254979T>A ENST00000350721.4:c.3790A>T 0.14 43 255 4 20/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0004618-T02-IM5 Bladder Urothelial Carcinoma S1950L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.76;SIFT: impact: tolerated, score: 0.33;Polyphen-2: impact: possibly_damaging, score: 0.472 Missense_Mutation SNP diploid NA NA NA 3 142215252 142215252 G A 3:g.142215252G>A ENST00000350721.4:c.5849C>T 0.38 394 635 20 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005621-T02-IM5 Lung Squamous Cell Carcinoma Q225L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.236 Missense_Mutation SNP diploid NA NA NA 3 142281570 142281570 T A 3:g.142281570T>A ENST00000350721.4:c.674A>T 0.09 48 501 15 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0005703-T01-IM5 Cutaneous Squamous Cell Carcinoma L998I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.882 Missense_Mutation SNP diploid NA NA NA 3 142268500 142268500 G T 3:g.142268500G>T ENST00000350721.4:c.2992C>A 0.16 65 347 40 15/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006119-T01-IM5 Glioblastoma Multiforme P985S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.115 Missense_Mutation SNP diploid NA NA NA 3 142268997 142268997 G A 3:g.142268997G>A ENST00000350721.4:c.2953C>T 0.05 52 951 86 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006119-T01-IM5 Glioblastoma Multiforme S670N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA NA 3 142275294 142275294 C T 3:g.142275294C>T ENST00000350721.4:c.2009G>A 0.11 96 753 86 9/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006160-T01-IM5 Undifferentiated Pleomorphic Sarcoma/Malignant Fibrous Histiocytoma/High-Grade Spindle Cell Sarcoma W1924L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.155;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142215330 142215330 C A 3:g.142215330C>A ENST00000350721.4:c.5771G>T 0.19 146 634 6 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006190-T01-IM5 Upper Tract Urothelial Carcinoma K2248N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.435;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: benign, score: 0.013 Missense_Mutation SNP diploid NA NA NA 3 142185319 142185319 C A 3:g.142185319C>A ENST00000350721.4:c.6744G>T 0.34 273 520 29 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006349-T01-IM5 Cancer of Unknown Primary D883_L884del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid NA NA NA 3 142272221 142272226 CCAAAT - 3:g.142272221_142272226del ENST00000350721.4:c.2648_2653del 0.31 182 414 15 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006437-T01-IM5 Skin Adnexal Carcinoma A2291V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.05;SIFT: impact: tolerated, score: 0.91;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP diploid NA NA NA 3 142185191 142185191 G A 3:g.142185191G>A ENST00000350721.4:c.6872C>T 0.23 167 544 98 40/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006571-T01-IM5 Head and Neck Squamous Cell Carcinoma Y1419H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.971 Missense_Mutation SNP diploid NA NA NA 3 142241581 142241581 A G 3:g.142241581A>G ENST00000350721.4:c.4255T>C 0.13 113 749 42 23/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006793-T01-IM5 Lung Adenocarcinoma A2030E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.04;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid 1 NA NA NA 3 142204114 142204114 G T 3:g.142204114G>T ENST00000350721.4:c.6089C>A 0.15 117 676 29 36/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006926-T02-IM5 Bladder Urothelial Carcinoma I487F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP diploid NA NA NA 3 142279187 142279187 T A 3:g.142279187T>A ENST00000350721.4:c.1459A>T 0.09 78 788 53 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0006926-T02-IM5 Bladder Urothelial Carcinoma S472F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142279231 142279231 G A 3:g.142279231G>A ENST00000350721.4:c.1415C>T 0.10 82 775 53 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007319-T01-IM5 Basaloid Penile Squamous Cell Carcinoma P2613L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.015;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168368 142168368 G A 3:g.142168368G>A ENST00000350721.4:c.7838C>T 0.15 90 499 421 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011569-T01-IM5 Uterine Endometrioid Carcinoma P2613L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.015;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168368 142168368 G A 3:g.142168368G>A ENST00000350721.4:c.7838C>T 0.09 61 605 47 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007319-T01-IM5 Basaloid Penile Squamous Cell Carcinoma I828N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.897 Missense_Mutation SNP diploid NA NA NA 3 142272716 142272716 A T 3:g.142272716A>T ENST00000350721.4:c.2483T>A 0.15 132 755 421 11/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007319-T01-IM5 Basaloid Penile Squamous Cell Carcinoma L37M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid NA NA NA 3 142286947 142286947 G T 3:g.142286947G>T ENST00000350721.4:c.109C>A 0.20 144 568 421 2/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007638-T01-IM5 Lung Adenocarcinoma V486F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.049 Missense_Mutation SNP diploid NA NA NA 3 142279190 142279190 C A 3:g.142279190C>A ENST00000350721.4:c.1456G>T 0.50 383 384 11 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007658-T01-IM5 Bladder Urothelial Carcinoma S1390L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated, score: 0.68;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142241667 142241667 G A 3:g.142241667G>A ENST00000350721.4:c.4169C>T 0.14 155 946 20 23/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007790-T01-IM5 Non-Small Cell Lung Cancer S1810L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.535;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.438 Missense_Mutation SNP diploid NA NA NA 3 142217568 142217568 G A 3:g.142217568G>A ENST00000350721.4:c.5429C>T 0.27 287 779 32 32/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008058-T01-IM5 Lung Squamous Cell Carcinoma L1944V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP diploid 1 NA NA NA 3 142215271 142215271 G C 3:g.142215271G>C ENST00000350721.4:c.5830C>G 0.10 114 989 13 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008246-T02-IM5 Cutaneous Melanoma S581L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.29;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP diploid NA NA NA 3 142277609 142277609 G A 3:g.142277609G>A ENST00000350721.4:c.1742C>T 0.40 272 400 80 8/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008480-T01-IM5 Cutaneous Squamous Cell Carcinoma L477F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.873 Missense_Mutation SNP diploid NA NA NA 3 142279217 142279217 G A 3:g.142279217G>A ENST00000350721.4:c.1429C>T 0.18 174 789 107 6/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008562-T01-IM5 Lung Squamous Cell Carcinoma R2333I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.935;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.984 Missense_Mutation SNP diploid NA NA NA 3 142183982 142183982 C A 3:g.142183982C>A ENST00000350721.4:c.6998G>T 0.30 352 831 10 41/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0008796-T01-IM5 Non-Small Cell Lung Cancer A1495V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.25;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.68 Missense_Mutation SNP diploid NA NA NA 3 142234256 142234256 G A 3:g.142234256G>A ENST00000350721.4:c.4484C>T 0.09 108 1042 61 25/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0009625-T01-IM5 Cancer of Unknown Primary L2303F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.76;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.92 Missense_Mutation SNP diploid NA NA NA 3 142184073 142184073 G A 3:g.142184073G>A ENST00000350721.4:c.6907C>T 0.23 148 506 73 41/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010185-T01-IM5 Anaplastic Oligodendroglioma E910K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.388 Missense_Mutation SNP diploid NA NA NA 3 142272146 142272146 C T 3:g.142272146C>T ENST00000350721.4:c.2728G>A 0.10 79 744 84 13/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010358-T01-IM5 Glioblastoma Multiforme P262R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA NA 3 142281459 142281459 G C 3:g.142281459G>C ENST00000350721.4:c.785C>G 0.39 481 738 6 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002181-T02-IM5 Glioblastoma Multiforme G2502E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.83;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142176596 142176596 C T 3:g.142176596C>T ENST00000350721.4:c.7505G>A 0.06 39 565 61 45/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002265-T02-IM5 Glioblastoma Multiforme P1125L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.81;SIFT: impact: deleterious, score: 0.05;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142261583 142261583 G A 3:g.142261583G>A ENST00000350721.4:c.3374C>T 0.09 54 558 147 17/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0002265-T02-IM5 Glioblastoma Multiforme A857V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.913 Missense_Mutation SNP diploid NA NA NA 3 142272545 142272545 G A 3:g.142272545G>A ENST00000350721.4:c.2570C>T 0.12 114 804 147 12/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011046-T01-IM5 Prostate Adenocarcinoma T1566N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.49;Polyphen-2: impact: benign, score: 0.013 Missense_Mutation SNP diploid NA NA NA 3 142231257 142231257 G T 3:g.142231257G>T ENST00000350721.4:c.4697C>A 0.27 140 388 5 27/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0011211-T01-IM5 Cancer of Unknown Primary L258F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid NA NA NA 3 142281472 142281472 G A 3:g.142281472G>A ENST00000350721.4:c.772C>T 0.07 43 588 57 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012086-T01-IM5 Lung Squamous Cell Carcinoma T1620S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.255;SIFT: impact: tolerated, score: 0.99;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142226946 142226946 T A 3:g.142226946T>A ENST00000350721.4:c.4858A>T 0.26 227 635 10 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012113-T01-IM5 Uterine Endometrioid Carcinoma R1951Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.182 Missense_Mutation SNP diploid NA NA NA 3 142215249 142215249 C T 3:g.142215249C>T ENST00000350721.4:c.5852G>A 0.19 193 843 244 34/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012113-T01-IM5 Uterine Endometrioid Carcinoma A957V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142269080 142269080 G A 3:g.142269080G>A ENST00000350721.4:c.2870C>T 0.17 155 740 244 14/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0010860-T02-IM5 Salivary Duct Carcinoma L438V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.27;Polyphen-2: impact: benign, score: 0.026 Missense_Mutation SNP diploid NA NA NA 3 142280122 142280122 G C 3:g.142280122G>C ENST00000350721.4:c.1312C>G 0.07 70 996 22 5/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012202-T01-IM5 Cutaneous Squamous Cell Carcinoma L1982I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.985;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.206 Missense_Mutation SNP diploid NA NA NA 3 142212108 142212108 A T 3:g.142212108A>T ENST00000350721.4:c.5944T>A 0.37 297 513 26 35/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012320-T01-IM5 Bladder Urothelial Carcinoma S2110C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.22;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.619 Missense_Mutation SNP diploid 2 NA NA NA 3 142188402 142188402 G C 3:g.142188402G>C ENST00000350721.4:c.6329C>G 0.19 72 311 6 38/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma P2613S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.945;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA NA 3 142168369 142168369 G A 3:g.142168369G>A ENST00000350721.4:c.7837C>T 0.39 205 321 455 47/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma T2391A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.14;SIFT: impact: tolerated, score: 0.6;Polyphen-2: impact: benign, score: 0.253 Missense_Mutation SNP diploid NA NA NA 3 142180803 142180803 T C 3:g.142180803T>C ENST00000350721.4:c.7171A>G 0.42 218 307 455 42/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma S1619F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.395;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP diploid NA NA NA 3 142226948 142226948 G A 3:g.142226948G>A ENST00000350721.4:c.4856C>T 0.42 115 162 455 28/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma S1465Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.47;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA NA 3 142234346 142234346 G T 3:g.142234346G>T ENST00000350721.4:c.4394C>A 0.44 154 195 455 25/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma N1241S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.5;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP diploid NA NA NA 3 142257327 142257327 T C 3:g.142257327T>C ENST00000350721.4:c.3722A>G 0.33 121 248 455 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012358-T01-IM5 Uterine Endometrioid Carcinoma S553P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.52;SIFT: impact: tolerated_low_confidence, score: 0.22;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142278168 142278168 A G 3:g.142278168A>G ENST00000350721.4:c.1657T>C 0.28 125 327 455 7/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0001999-T01-IM3 Angiosarcoma F132L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated_low_confidence, score: 0.55;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP diploid NA NA NA 3 142281848 142281848 A T 3:g.142281848A>T ENST00000350721.4:c.396T>A 0.74 390 137 8 4/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0007291-T01-IM5 Melanoma of Unknown Primary C1202Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.873 Missense_Mutation SNP diploid NA NA NA 3 142257444 142257444 C T 3:g.142257444C>T ENST00000350721.4:c.3605G>A 0.40 266 392 10 19/47 MSK-IMPACT Clinical Sequencing Cohort (MSKCC, Nat Med 2017) P-0012201-T01-IM5 Diffuse Large B-Cell Lymphoma, NOS I691F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP diploid NA NA NA 3 142275232 142275232 T A 3:g.142275232T>A ENST00000350721.4:c.2071A>T 0.26 142 394 25 9/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-11 Cutaneous Melanoma D183A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.56;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP NA NA broad.mit.edu 3 142281696 142281696 T G 3:g.142281696T>G ENST00000350721.4:c.548A>C 540 4/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-1 Cutaneous Melanoma V915A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.845;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA broad.mit.edu 3 142272130 142272130 A G 3:g.142272130A>G ENST00000350721.4:c.2744T>C 4870 13/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-22 Cutaneous Melanoma R1351W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.945 Missense_Mutation SNP NA NA broad.mit.edu 3 142242936 142242936 G A 3:g.142242936G>A ENST00000350721.4:c.4051C>T 1045 22/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS032-T2 Skin Cancer, Non-Melanoma R1351W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.455;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.945 Missense_Mutation SNP NA NA NA 3 142242936 142242936 G A 3:g.142242936G>A ENST00000350721.4:c.4051C>T 0.03 14 480 295 22/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-JWCI-WGS-31 Cutaneous Melanoma G1935S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.07;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP NA NA broad.mit.edu 3 142215298 142215298 C T 3:g.142215298C>T ENST00000350721.4:c.5803G>A 247 34/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-Ma-Mel-65 Cutaneous Melanoma D2494E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.942 Missense_Mutation SNP NA NA broad.mit.edu 3 142177821 142177821 A T 3:g.142177821A>T ENST00000350721.4:c.7482T>A 1954 44/47 Skin Cutaneous Melanoma (Broad, Cell 2012) MEL-Ma-Mel-67 Cutaneous Melanoma H2071Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.215;SIFT: impact: tolerated, score: 0.58;Polyphen-2: impact: benign, score: 0.022 Missense_Mutation SNP NA NA broad.mit.edu 3 142203992 142203992 G A 3:g.142203992G>A ENST00000350721.4:c.6211C>T 2220 36/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) s_JC_ucc_034_P Upper Tract Urothelial Carcinoma F2427L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.27;SIFT: impact: tolerated, score: 0.79;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142178137 142178137 A T 3:g.142178137A>T ENST00000350721.4:c.7281T>A 0.07 45 622 283 224 43/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0039-R1 Non-Small Cell Lung Cancer I1900V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.435;SIFT: impact: tolerated, score: 0.49;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP NA NA NA 3 142215895 142215895 T C 3:g.142215895T>C ENST00000350721.4:c.5698A>G 0.24 238 748 499 33/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0039-R2 Non-Small Cell Lung Cancer I1900V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.435;SIFT: impact: tolerated, score: 0.49;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP NA NA NA 3 142215895 142215895 T C 3:g.142215895T>C ENST00000350721.4:c.5698A>G 0.13 85 554 629 33/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0039-R3 Non-Small Cell Lung Cancer I1900V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.435;SIFT: impact: tolerated, score: 0.49;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP NA NA NA 3 142215895 142215895 T C 3:g.142215895T>C ENST00000350721.4:c.5698A>G 0.12 75 570 492 33/47 Chronic Lymphocytic Leukemia (Broad, Nature 2015) CLL-GCLL-0210-Tumor-SM-4DP8L Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma I1900V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.435;SIFT: impact: tolerated, score: 0.49;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP NA NA broad.mit.edu 3 142215895 142215895 T C 3:g.142215895T>C ENST00000350721.4:c.5698A>G 0.05 7 148 14 33/47 Breast Cancer (MSKCC, NPJ Breast Cancer 2019) s_DS_bkm_042_T Invasive Breast Carcinoma H4Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: benign, score: 0.047 Missense_Mutation SNP diploid SOMATIC_VS_POOL NA MSK-IMPACT 3 142297537 142297537 G A 3:g.142297537G>A ENST00000350721.4:c.10C>T 0.54 0.0008 291 252 1 1282 9 1/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0090-R1 Lung Squamous Cell Carcinoma R1445K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.825;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP NA NA NA 3 142238559 142238559 C T 3:g.142238559C>T ENST00000350721.4:c.4334G>A 0.28 295 753 570 24/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0090-R2 Lung Squamous Cell Carcinoma R1445K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.825;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP NA NA NA 3 142238559 142238559 C T 3:g.142238559C>T ENST00000350721.4:c.4334G>A 0.24 300 960 571 24/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1534 Breast Invasive Ductal Carcinoma R1445K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.825;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP NA NA University of Michigan 3 142238559 142238559 C T 3:g.142238559C>T ENST00000350721.4:c.4334G>A 0.52 115 105 189 165 24/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) IC-1621GBM Glioblastoma R1082C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.965 Missense_Mutation SNP diploid 2 NA NA hgsc.bcm.edu 3 142266680 142266680 G A 3:g.142266680G>A ENST00000350721.4:c.3244C>T 0.57 0.57 24 18 24 18 6798 16/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A2K5-01 Uterine Endometrioid Carcinoma R1082C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.965 Missense_Mutation SNP diploid 2 . . . 3 142266680 142266680 G A 3:g.142266680G>A ENST00000350721.4:c.3244C>T 0.08 3 34 46 8509 16/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A1C4-01 Uterine Endometrioid Carcinoma A880T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.445;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.278 Missense_Mutation SNP diploid . . . 3 142272236 142272236 C T 3:g.142272236C>T ENST00000350721.4:c.2638G>A 0.41 7 10 8 862 13/47 Clear Cell Renal Cell Carcinoma (DFCI, Science 2019) RCC_105-Tumor-SM-A46FA Renal Clear Cell Carcinoma I1145N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: possibly_damaging, score: 0.603 Missense_Mutation SNP NA NA broad.mit.edu 3 142261523 142261523 A T 3:g.142261523A>T ENST00000350721.4:c.3434T>A 0.71 88 36 103 17/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) s_JC_ucc_034_P Upper Tract Urothelial Carcinoma I2435V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -2.365;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142178115 142178115 T C 3:g.142178115T>C ENST00000350721.4:c.7303A>G 0.06 37 587 274 224 43/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5505 Breast Mixed Ductal and Lobular Carcinoma I2435V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -2.365;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142178115 142178115 T C 3:g.142178115T>C ENST00000350721.4:c.7303A>G 7 43/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T1326 Breast Invasive Ductal Carcinoma I2435V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -2.365;SIFT: impact: tolerated, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA METABRIC 3 142178115 142178115 T C 3:g.142178115T>C ENST00000350721.4:c.7303A>G 9 43/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3321 Colorectal Adenocarcinoma R2476C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.993 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142177877 142177877 G A 3:g.142177877G>A ENST00000350721.4:c.7426C>T 1255 44/47 Upper Tract Urothelial Cancer (MSK, Eur Urol 2015) DS-uttcc-061-P Upper Tract Urothelial Carcinoma F273L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.15;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP gain Somatic high mskcc.org 3 142281425 142281425 A C 3:g.142281425A>C ENST00000350721.4:c.819T>G 0.54 428 364 391 54 4/47 Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) DS-uttcc-061-P Upper Tract Urothelial Carcinoma F273L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.15;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP gain Somatic high mskcc.org 3 142281425 142281425 A C 3:g.142281425A>C ENST00000350721.4:c.819T>G 0.46 1.00 364 428 391 54 4/47 Metastatic Melanoma (UCLA, Cell 2016) Pt7 Melanoma G1967D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142212152 142212152 C T 3:g.142212152C>T ENST00000350721.4:c.5900G>A 0.11 18 143 1258 35/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587222 Colorectal Adenocarcinoma G481D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.28;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP 1 NA NA Genentech 3 142279204 142279204 C T 3:g.142279204C>T ENST00000350721.4:c.1442G>A 2311 6/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587238 Colorectal Adenocarcinoma E2128D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP 1 NA NA Genentech 3 142188347 142188347 C A 3:g.142188347C>A ENST00000350721.4:c.6384G>T 952 38/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587284 Colorectal Adenocarcinoma Q1334E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.645;SIFT: impact: tolerated, score: 0.37;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP 1 NA NA Genentech 3 142242987 142242987 G C 3:g.142242987G>C ENST00000350721.4:c.4000C>G 2238 22/47 Colorectal Adenocarcinoma (Genentech, Nature 2012) 587376 Colorectal Adenocarcinoma L1361V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.215;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.902 Missense_Mutation SNP 1 NA NA Genentech 3 142242906 142242906 A C 3:g.142242906A>C ENST00000350721.4:c.4081T>G 9360 22/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2779 Diffuse Large B-Cell Lymphoma, NOS H2517R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.65;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0.176 Missense_Mutation SNP NA NA Duke University 3 142176551 142176551 T C 3:g.142176551T>C ENST00000350721.4:c.7550A>G 17 45/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3561 Diffuse Large B-Cell Lymphoma, NOS F2483L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.02;SIFT: impact: tolerated, score: 0.15;Polyphen-2: impact: benign, score: 0.335 Missense_Mutation SNP NA NA Duke University 3 142177854 142177854 A T 3:g.142177854A>T ENST00000350721.4:c.7449T>A 9 44/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3622 Diffuse Large B-Cell Lymphoma, NOS I2323L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated, score: 0.42;Polyphen-2: impact: benign, score: 0.266 Missense_Mutation SNP NA NA Duke University 3 142184013 142184013 T G 3:g.142184013T>G ENST00000350721.4:c.6967A>C 23 41/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2775 Diffuse Large B-Cell Lymphoma, NOS L2306R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.875;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.911 Missense_Mutation SNP 1 NA NA Duke University 3 142184063 142184063 A C 3:g.142184063A>C ENST00000350721.4:c.6917T>G 9 41/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2828 Diffuse Large B-Cell Lymphoma, NOS D2111N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.031 Missense_Mutation SNP NA NA Duke University 3 142188400 142188400 C T 3:g.142188400C>T ENST00000350721.4:c.6331G>A 6 38/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2947 Diffuse Large B-Cell Lymphoma, NOS D2111N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.85;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.031 Missense_Mutation SNP NA NA Duke University 3 142188400 142188400 C T 3:g.142188400C>T ENST00000350721.4:c.6331G>A 8 38/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3549 Diffuse Large B-Cell Lymphoma, NOS R2089Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.07;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.962 Missense_Mutation SNP NA NA Duke University 3 142188981 142188981 C T 3:g.142188981C>T ENST00000350721.4:c.6266G>A 10 37/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2475 Diffuse Large B-Cell Lymphoma, NOS D2063G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.111 Missense_Mutation SNP NA NA Duke University 3 142204015 142204015 T C 3:g.142204015T>C ENST00000350721.4:c.6188A>G 19 36/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2192 Diffuse Large B-Cell Lymphoma, NOS D2055N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.957 Missense_Mutation SNP NA NA Duke University 3 142204040 142204040 C T 3:g.142204040C>T ENST00000350721.4:c.6163G>A 2 36/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3557 Diffuse Large B-Cell Lymphoma, NOS D2055N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.957 Missense_Mutation SNP NA NA Duke University 3 142204040 142204040 C T 3:g.142204040C>T ENST00000350721.4:c.6163G>A 4 36/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3879 Diffuse Large B-Cell Lymphoma, NOS A1972T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.005;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.977 Missense_Mutation SNP NA NA Duke University 3 142212138 142212138 C T 3:g.142212138C>T ENST00000350721.4:c.5914G>A 5 35/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2150 Diffuse Large B-Cell Lymphoma, NOS S1875N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.185;SIFT: impact: tolerated, score: 0.52;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP NA NA Duke University 3 142215969 142215969 C T 3:g.142215969C>T ENST00000350721.4:c.5624G>A 14 33/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2121 Diffuse Large B-Cell Lymphoma, NOS Y1626C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.305;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP NA NA Duke University 3 142226927 142226927 T C 3:g.142226927T>C ENST00000350721.4:c.4877A>G 4 28/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3662 Diffuse Large B-Cell Lymphoma, NOS Y1497C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.38;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.96 Missense_Mutation SNP NA NA Duke University 3 142234250 142234250 T C 3:g.142234250T>C ENST00000350721.4:c.4490A>G 3 25/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3820 Diffuse Large B-Cell Lymphoma, NOS F1381L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.73;SIFT: impact: tolerated, score: 0.66;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA Duke University 3 142242844 142242844 A T 3:g.142242844A>T ENST00000350721.4:c.4143T>A 11 22/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3820 Diffuse Large B-Cell Lymphoma, NOS F1381V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.43;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA Duke University 3 142242846 142242846 A C 3:g.142242846A>C ENST00000350721.4:c.4141T>G 11 22/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2898 Diffuse Large B-Cell Lymphoma, NOS K1379E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.455;SIFT: impact: tolerated, score: 0.52;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP NA NA Duke University 3 142242852 142242852 T C 3:g.142242852T>C ENST00000350721.4:c.4135A>G 9 22/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2768 Diffuse Large B-Cell Lymphoma, NOS R215C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.232 Missense_Mutation SNP 1 NA NA Duke University 3 142281601 142281601 G A 3:g.142281601G>A ENST00000350721.4:c.643C>T 8 4/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_3405 Diffuse Large B-Cell Lymphoma, NOS R215C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.232 Missense_Mutation SNP 1 NA NA Duke University 3 142281601 142281601 G A 3:g.142281601G>A ENST00000350721.4:c.643C>T 7 4/47 Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) DLBCL_DUKE_2838 Diffuse Large B-Cell Lymphoma, NOS A9T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0.3 Missense_Mutation SNP NA NA Duke University 3 142297522 142297522 C T 3:g.142297522C>T ENST00000350721.4:c.25G>A 40 1/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-NYU160 Lung Adenocarcinoma L55I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated_low_confidence, score: 0.05;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142285092 142285092 G T 3:g.142285092G>T ENST00000350721.4:c.163C>A 234 3/47 Lung Adenocarcinoma (Broad, Cell 2012) LUAD-S01357 Lung Adenocarcinoma L1673V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.64;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.982 Missense_Mutation SNP diploid 1 Unknown NA broad.mit.edu 3 142226787 142226787 G C 3:g.142226787G>C ENST00000350721.4:c.5017C>G 1467 28/47 Acute Myeloid Leukemia (TCGA, PanCancer Atlas) TCGA-AB-2828-03 Acute Myeloid Leukemia S860T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.67;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: benign, score: 0.073 Missense_Mutation SNP diploid . . . 3 142272537 142272537 A T 3:g.142272537A>T ENST00000350721.4:c.2578T>A 0.06 8 119 108 748 12/47 The Metastatic Breast Cancer Project (Provisional, February 2020) MBC-MBCProject_57iLiJIl-Tumor-SM-CGLIV Breast Invasive Ductal Carcinoma M2551I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.715;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: possibly_damaging, score: 0.687 Missense_Mutation SNP gain Somatic NA broad.mit.edu 3 142176448 142176448 C G 3:g.142176448C>G ENST00000350721.4:c.7653G>C 0.05 12 249 721 45/47 Metastatic Melanoma (DFCI, Science 2015) Pat28 Cutaneous Melanoma G840E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.735;SIFT: impact: tolerated, score: 0.38;Polyphen-2: impact: possibly_damaging, score: 0.674 Missense_Mutation SNP diploid Somatic Untested MSKCC 3 142272680 142272680 C T 3:g.142272680C>T ENST00000350721.4:c.2519G>A 0.04 0.0032 7 158 1 314 740 11/47 Metastatic Melanoma (DFCI, Science 2015) Pat88 Cutaneous Melanoma P2287L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.56;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP gain 1 Somatic Untested MSKCC 3 142185203 142185203 G A 3:g.142185203G>A ENST00000350721.4:c.6860C>T 0.29 89 213 238 1560 40/47 Metastatic Melanoma (DFCI, Science 2015) Pat88 Cutaneous Melanoma H664Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.369 Missense_Mutation SNP gain Somatic Untested MSKCC 3 142275313 142275313 G A 3:g.142275313G>A ENST00000350721.4:c.1990C>T 0.29 0.0071 120 294 2 281 1560 9/47 Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015_S01020 Small Cell Lung Cancer M2239I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.515;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP NA NA ucologne 3 142185346 142185346 C A 3:g.142185346C>A ENST00000350721.4:c.6717G>T 0.52 25 23 486 40/47 Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015_S01512 Small Cell Lung Cancer V1267L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.96;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP NA NA ucologne 3 142254970 142254970 C G 3:g.142254970C>G ENST00000350721.4:c.3799G>C 0.29 8 20 298 20/47 Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015_S02273 Small Cell Lung Cancer D1429Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.385;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.541 Missense_Mutation SNP NA NA ucologne 3 142238608 142238608 C A 3:g.142238608C>A ENST00000350721.4:c.4285G>T 0.44 20 25 534 24/47 Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014) 12-P616 Ewing Sarcoma C116S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142281897 142281897 C G 3:g.142281897C>G ENST00000350721.4:c.347G>C 110 4/47 Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014) CHEWS020 Ewing Sarcoma I141F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.357 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142281823 142281823 T A 3:g.142281823T>A ENST00000350721.4:c.421A>T 75 4/47 Small-Cell Lung Cancer (Multi-Institute, Cancer Cell 2017) JHU-LX33 Small Cell Lung Cancer V959M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.355;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 1 NA NA mskcc.org 3 142269075 142269075 C T 3:g.142269075C>T ENST00000350721.4:c.2875G>A 0.28 47 120 1871 14/47 Small-Cell Lung Cancer (Multi-Institute, Cancer Cell 2017) JHU-LX33-R Small Cell Lung Cancer V959M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.355;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP 1 NA NA mskcc.org 3 142269075 142269075 C T 3:g.142269075C>T ENST00000350721.4:c.2875G>A 0.41 80 117 1928 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-NB007-T1 Skin Cancer, Non-Melanoma L620V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.184 Missense_Mutation SNP NA NA NA 3 142277493 142277493 A C 3:g.142277493A>C ENST00000350721.4:c.1858T>G 0.24 64 199 1546 8/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT010-T1 Skin Cancer, Non-Melanoma R2476S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.992 Missense_Mutation SNP NA NA NA 3 142177877 142177877 G T 3:g.142177877G>T ENST00000350721.4:c.7426C>A 0.07 5 63 1326 44/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT010-T1 Skin Cancer, Non-Melanoma A659V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.335 Missense_Mutation SNP NA NA NA 3 142275327 142275327 G A 3:g.142275327G>A ENST00000350721.4:c.1976C>T 0.36 21 37 1326 9/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT039-T1 Skin Cancer, Non-Melanoma R2514H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.98;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP 1 NA NA NA 3 142176560 142176560 C T 3:g.142176560C>T ENST00000350721.4:c.7541G>A 0.07 4 52 192 45/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-PT048-T1 Skin Cancer, Non-Melanoma V50A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.08;Polyphen-2: impact: benign, score: 0.031 Missense_Mutation SNP NA NA NA 3 142286907 142286907 A G 3:g.142286907A>G ENST00000350721.4:c.149T>C 0.38 6 10 3213 2/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS009-T1 Skin Cancer, Non-Melanoma R1905K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.12;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP NA NA NA 3 142215879 142215879 C T 3:g.142215879C>T ENST00000350721.4:c.5714G>A 0.16 15 81 1957 33/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS017-T1 Skin Cancer, Non-Melanoma P193F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.39 Missense_Mutation DNP NA NA NA 3 142281666 142281667 GG AA 3:g.142281666_142281667delinsAA ENST00000350721.4:c.577_578delinsTT 0.33 91 181 3863 4/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS021-T1 Skin Cancer, Non-Melanoma G2472R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.975;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP NA NA NA 3 142177889 142177889 C T 3:g.142177889C>T ENST00000350721.4:c.7414G>A 0.11 36 292 3279 44/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS029-T1 Skin Cancer, Non-Melanoma D1615N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.345;SIFT: impact: tolerated, score: 0.54;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142231111 142231111 C T 3:g.142231111C>T ENST00000350721.4:c.4843G>A 0.11 12 97 1420 27/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS037-T1 Skin Cancer, Non-Melanoma P886L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: tolerated, score: 0.37;Polyphen-2: impact: benign, score: 0.239 Missense_Mutation SNP NA NA NA 3 142272217 142272217 G A 3:g.142272217G>A ENST00000350721.4:c.2657C>T 0.12 7 50 2173 13/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS037-T5 Skin Cancer, Non-Melanoma L937F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP NA NA NA 3 142269139 142269139 C A 3:g.142269139C>A ENST00000350721.4:c.2811G>T 0.09 21 224 459 14/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS046-T1 Skin Cancer, Non-Melanoma T541P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: tolerated_low_confidence, score: 0.33;Polyphen-2: impact: benign, score: 0.143 Missense_Mutation SNP 1 NA NA NA 3 142278204 142278204 T G 3:g.142278204T>G ENST00000350721.4:c.1621A>C 0.08 4 44 837 7/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE023-T1 Skin Cancer, Non-Melanoma R1444K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation DNP NA NA NA 3 142238561 142238562 CC TT 3:g.142238561_142238562delinsTT ENST00000350721.4:c.4331_4332delinsAA 0.28 33 83 25 24/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE026-T1 Skin Cancer, Non-Melanoma R2357K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.18;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: benign, score: 0.217 Missense_Mutation SNP NA NA NA 3 142180904 142180904 C T 3:g.142180904C>T ENST00000350721.4:c.7070G>A 0.09 6 63 208 42/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE026-T2 Skin Cancer, Non-Melanoma Y188H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.549 Missense_Mutation SNP NA NA NA 3 142281682 142281682 A G 3:g.142281682A>G ENST00000350721.4:c.562T>C 0.21 29 110 72 4/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE032-T1 Skin Cancer, Non-Melanoma G1084E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.91 Missense_Mutation SNP NA NA NA 3 142266673 142266673 C T 3:g.142266673C>T ENST00000350721.4:c.3251G>A 0.20 58 239 140 16/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE036-T1 Skin Cancer, Non-Melanoma G5D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP NA NA NA 3 142297533 142297533 C T 3:g.142297533C>T ENST00000350721.4:c.14G>A 0.21 20 75 52 1/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE043-T1 Skin Cancer, Non-Melanoma S472F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0 Missense_Mutation DNP NA NA NA 3 142279230 142279231 GG AA 3:g.142279230_142279231delinsAA ENST00000350721.4:c.1415_1416delinsTT 0.32 133 283 57 6/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE049-T1 Skin Cancer, Non-Melanoma S1210F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.628 Missense_Mutation SNP NA NA NA 3 142257420 142257420 G A 3:g.142257420G>A ENST00000350721.4:c.3629C>T 0.13 15 97 156 19/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE071-T1 Skin Cancer, Non-Melanoma D701Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.086 Missense_Mutation SNP NA NA NA 3 142274959 142274959 C A 3:g.142274959C>A ENST00000350721.4:c.2101G>T 0.16 17 92 143 10/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE072-T1 Skin Cancer, Non-Melanoma S902P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.95;SIFT: impact: tolerated, score: 0.27;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP 1 NA NA NA 3 142272170 142272170 A G 3:g.142272170A>G ENST00000350721.4:c.2704T>C 0.52 39 36 21 13/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE073-T1 Skin Cancer, Non-Melanoma L649F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.34;Polyphen-2: impact: benign, score: 0.024 Missense_Mutation SNP NA NA NA 3 142275358 142275358 G A 3:g.142275358G>A ENST00000350721.4:c.1945C>T 0.28 33 87 51 9/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-GE082-T1 Skin Cancer, Non-Melanoma M1150T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.506 Missense_Mutation SNP NA NA NA 3 142261508 142261508 A G 3:g.142261508A>G ENST00000350721.4:c.3449T>C 0.49 75 77 35 17/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-ST009-T1 Skin Cancer, Non-Melanoma V1920A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.78;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.111 Missense_Mutation SNP NA NA NA 3 142215342 142215342 A G 3:g.142215342A>G ENST00000350721.4:c.5759T>C 0.45 5 6 145 34/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-ST014-T1 Skin Cancer, Non-Melanoma S553F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.87;SIFT: impact: tolerated_low_confidence, score: 0.05;Polyphen-2: impact: benign, score: 0.188 Missense_Mutation SNP NA NA NA 3 142278167 142278167 G A 3:g.142278167G>A ENST00000350721.4:c.1658C>T 0.24 23 73 43 7/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS080-T1 Skin Cancer, Non-Melanoma P485S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.92;SIFT: impact: tolerated_low_confidence, score: 0.49;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142279193 142279193 G A 3:g.142279193G>A ENST00000350721.4:c.1453C>T 0.05 24 431 161 6/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS080-T1 Skin Cancer, Non-Melanoma P1438L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.01;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: benign, score: 0.02 Missense_Mutation SNP NA NA NA 3 142238580 142238580 G A 3:g.142238580G>A ENST00000350721.4:c.4313C>T 0.05 21 378 161 24/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS097-T3 Skin Cancer, Non-Melanoma P689S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: tolerated, score: 0.73;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP NA NA NA 3 142275238 142275238 G A 3:g.142275238G>A ENST00000350721.4:c.2065C>T 0.20 35 143 30 9/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-WS002-T2 Skin Cancer, Non-Melanoma S1835L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.19;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: probably_damaging, score: 0.982 Missense_Mutation SNP NA NA NA 3 142217493 142217493 G A 3:g.142217493G>A ENST00000350721.4:c.5504C>T 0.23 22 75 87 32/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-WS008-T3 Skin Cancer, Non-Melanoma R861K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.754 Missense_Mutation SNP NA NA NA 3 142272533 142272533 C T 3:g.142272533C>T ENST00000350721.4:c.2582G>A 0.22 29 102 240 12/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-WS008-T3 Skin Cancer, Non-Melanoma H1054Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.544 Missense_Mutation SNP NA NA NA 3 142268332 142268332 G A 3:g.142268332G>A ENST00000350721.4:c.3160C>T 0.30 13 30 240 15/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T11 Skin Cancer, Non-Melanoma L1945F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Missense_Mutation DNP NA NA NA 3 142215268 142215269 GG AA 3:g.142215268_142215269delinsAA ENST00000350721.4:c.5832_5833delinsTT 0.21 9 33 100 34/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T14 Skin Cancer, Non-Melanoma L2562F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.17;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.981 Missense_Mutation SNP NA NA NA 3 142172047 142172047 G A 3:g.142172047G>A ENST00000350721.4:c.7684C>T 0.44 19 24 100 46/47 Basal Cell Carcinoma (UNIGE, Nat Genet 2016) 5-VS090-T3 Skin Cancer, Non-Melanoma P2613L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA Missense_Mutation DNP NA NA NA 3 142168368 142168369 GG AA 3:g.142168368_142168369delinsAA ENST00000350721.4:c.7837_7838delinsTT 0.32 111 239 69 47/47 Esophageal Squamous Cell Carcinoma (ICGC, Nature 2014) ESCC-057T Esophageal Squamous Cell Carcinoma C671S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.138 Missense_Mutation SNP 1 Somatic NA BGI 3 142275291 142275291 C G 3:g.142275291C>G ENST00000350721.4:c.2012G>C 0.13 19 124 107 47 9/47 Esophageal Squamous Cell Carcinoma (ICGC, Nature 2014) ESCC-112T Esophageal Squamous Cell Carcinoma Q1977H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.85;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.756 Missense_Mutation SNP 1 Somatic NA BGI 3 142212121 142212121 T A 3:g.142212121T>A ENST00000350721.4:c.5931A>T 0.13 23 153 161 79 35/47 Esophageal Squamous Cell Carcinoma (ICGC, Nature 2014) ESCC-184T Esophageal Squamous Cell Carcinoma D1187Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.961 Missense_Mutation SNP 1 Somatic NA BGI 3 142259768 142259768 C A 3:g.142259768C>A ENST00000350721.4:c.3559G>T 0.13 0.01 30 199 2 162 194 18/47 Glioma (MSK, Nature 2019) Patient-34-CSF-LP Glioblastoma Multiforme P2433L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.885;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.452 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142178120 142178120 G A 3:g.142178120G>A ENST00000350721.4:c.7298C>T 0.44 451 564 335 199 43/47 Glioma (MSK, Nature 2019) Patient-34-CSF-VP Glioblastoma Multiforme P2433L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.885;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.452 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142178120 142178120 G A 3:g.142178120G>A ENST00000350721.4:c.7298C>T 0.41 271 392 335 227 43/47 Glioma (MSK, Nature 2019) Patient-34-CSF-LP Glioblastoma Multiforme E852K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142272561 142272561 C T 3:g.142272561C>T ENST00000350721.4:c.2554G>A 0.16 199 1054 655 199 12/47 Glioma (MSK, Nature 2019) Patient-34-CSF-VP Glioblastoma Multiforme E852K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.39;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT410 3 142272561 142272561 C T 3:g.142272561C>T ENST00000350721.4:c.2554G>A 0.16 132 709 655 227 12/47 Upper Tract Urothelial Carcinoma (Cornell/Baylor/MDACC, Nat Commun 2019) BCM-MDA-UTUC-24 Upper Tract Urothelial Carcinoma G1084A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.519 Missense_Mutation SNP Somatic NA Baylor-MDACC 3 142266673 142266673 C G 3:g.142266673C>G ENST00000350721.4:c.3251G>C 0.06 5 82 93 71 16/47 Upper Tract Urothelial Carcinoma (Cornell/Baylor/MDACC, Nat Commun 2019) BCM-MDA-UTUC-21 Upper Tract Urothelial Carcinoma Q412E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.905;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP Somatic NA Baylor-MDACC 3 142280200 142280200 G C 3:g.142280200G>C ENST00000350721.4:c.1234C>G 0.35 32 60 92 97 5/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) IC-1621GBM Glioblastoma L1997V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.215;SIFT: impact: tolerated, score: 0.31;Polyphen-2: impact: benign, score: 0.359 Missense_Mutation SNP diploid NA NA hgsc.bcm.edu 3 142212063 142212063 A C 3:g.142212063A>C ENST00000350721.4:c.5989T>G 0.42 0.42 30 41 30 41 6798 35/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) ALL-94 B-Lymphoblastic Leukemia/Lymphoma A2165T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.375;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.448 Missense_Mutation SNP diploid 1 NA NA hgsc.bcm.edu 3 142188238 142188238 C T 3:g.142188238C>T ENST00000350721.4:c.6493G>A 0.50 0.50 79 80 79 80 220 38/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) EW-8 Ewing Sarcoma K2100N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.885;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.045 Missense_Mutation SNP diploid NA NA hgsc.bcm.edu 3 142188947 142188947 C A 3:g.142188947C>A ENST00000350721.4:c.6300G>T 0.27 0.27 21 57 21 57 219 37/47 Pediatric Preclinical Testing Consortium (CHOP, Cell Rep 2019) IC-1621GBM Glioblastoma L835V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.57;Polyphen-2: impact: benign, score: 0.038 Missense_Mutation SNP diploid NA NA hgsc.bcm.edu 3 142272696 142272696 A C 3:g.142272696A>C ENST00000350721.4:c.2503T>G 0.45 0.45 33 40 33 40 6798 11/47 Prostate Adenocarcinoma (SMMU, Eur Urol 2017) CH31T Prostate Adenocarcinoma L1425dup OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Ins INS diploid Somatic NA NA 3 142238620 142238621 - CAA 3:g.142238620_142238621insCAA ENST00000350721.4:c.4270_4272dup 43 24/47 Cutaneous T Cell Lymphoma (Columbia U, Nat Genet 2015) CTCL_NU7 Primary Cutaneous CD8 Positive Aggressive Epidermotropic Cytotoxic T-Cell Lymphoma E2162K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.395;SIFT: impact: tolerated, score: 0.63;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP NA NA www.columbia.edu 3 142188247 142188247 C T 3:g.142188247C>T ENST00000350721.4:c.6484G>A 292 38/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0090-R1 Lung Squamous Cell Carcinoma D1634G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.138 Missense_Mutation SNP 1 NA NA NA 3 142226903 142226903 T C 3:g.142226903T>C ENST00000350721.4:c.4901A>G 0.25 152 451 570 28/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0090-R2 Lung Squamous Cell Carcinoma D1634G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.138 Missense_Mutation SNP 1 NA NA NA 3 142226903 142226903 T C 3:g.142226903T>C ENST00000350721.4:c.4901A>G 0.25 146 430 571 28/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0063-R4 Lung Squamous Cell Carcinoma L2070V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.085;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0.166 Missense_Mutation SNP NA NA NA 3 142203995 142203995 G C 3:g.142203995G>C ENST00000350721.4:c.6208C>G 0.0100 5 496 183 36/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0063-R5 Lung Squamous Cell Carcinoma L2070V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.085;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0.166 Missense_Mutation SNP NA NA NA 3 142203995 142203995 G C 3:g.142203995G>C ENST00000350721.4:c.6208C>G 0.04 22 483 193 36/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0063-R6 Lung Squamous Cell Carcinoma L2070V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.085;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0.166 Missense_Mutation SNP NA NA NA 3 142203995 142203995 G C 3:g.142203995G>C ENST00000350721.4:c.6208C>G 0.01 7 543 188 36/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0063-R7 Lung Squamous Cell Carcinoma L2070V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.085;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0.166 Missense_Mutation SNP NA NA NA 3 142203995 142203995 G C 3:g.142203995G>C ENST00000350721.4:c.6208C>G 0.01 4 338 187 36/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0027-R1 Non-Small Cell Lung Cancer T717S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142274911 142274911 T A 3:g.142274911T>A ENST00000350721.4:c.2149A>T 0.11 67 549 380 10/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0027-R2 Non-Small Cell Lung Cancer T717S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142274911 142274911 T A 3:g.142274911T>A ENST00000350721.4:c.2149A>T 0.08 61 671 480 10/47 Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) CRUK0027-R3 Non-Small Cell Lung Cancer T717S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142274911 142274911 T A 3:g.142274911T>A ENST00000350721.4:c.2149A>T 0.05 32 577 368 10/47 Esophageal Adenocarcinoma (DFCI, Nat Genet 2013) ESO-859 Esophageal Adenocarcinoma M456T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.955;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: benign, score: 0.02 Missense_Mutation SNP 1 Somatic NA broad.mit.edu 3 142279279 142279279 A G 3:g.142279279A>G ENST00000350721.4:c.1367T>C 0.85 206 35 1684 6/47 Esophageal Adenocarcinoma (DFCI, Nat Genet 2013) ESO-R61 Esophageal Adenocarcinoma V1930A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.585;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.682 Missense_Mutation SNP 1 Somatic NA broad.mit.edu 3 142215312 142215312 A G 3:g.142215312A>G ENST00000350721.4:c.5789T>C 0.13 12 82 50 34/47 Chronic Lymphocytic Leukemia (Broad, Nature 2015) ICGC_CLL-013-TD Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma A965V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0.197 Missense_Mutation SNP NA NA broad.mit.edu 3 142269056 142269056 G A 3:g.142269056G>A ENST00000350721.4:c.2894C>T 0.06 5 84 28 14/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) BGI-EX03 Lung Adenocarcinoma S1711T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.85;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: probably_damaging, score: 0.96 Missense_Mutation SNP gain NA NA NA 3 142224045 142224045 C G 3:g.142224045C>G ENST00000350721.4:c.5132G>C 0.06 16 265 547 29/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) BGI-RS07 Lung Adenocarcinoma T2448A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.11;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.306 Missense_Mutation SNP diploid NA NA NA 3 142178076 142178076 T C 3:g.142178076T>C ENST00000350721.4:c.7342A>G 0.13 7 49 180 43/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) BGI-WG08 Lung Adenocarcinoma K697E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.2;SIFT: impact: tolerated, score: 0.81;Polyphen-2: impact: benign, score: 0.005 Missense_Mutation SNP gain NA NA NA 3 142274971 142274971 T C 3:g.142274971T>C ENST00000350721.4:c.2089A>G 0.25 16 47 719 10/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) BGI-WG15 Lung Adenocarcinoma T1016I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated, score: 0.47;Polyphen-2: impact: possibly_damaging, score: 0.761 Missense_Mutation SNP diploid NA NA NA 3 142268445 142268445 G A 3:g.142268445G>A ENST00000350721.4:c.3047C>T 0.20 4 16 130 15/47 Lung Adenocarcinoma (OncoSG, Nat Genet 2020) A136 Lung Adenocarcinoma P2369S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.535;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP diploid NA NA NA 3 142180869 142180869 G A 3:g.142180869G>A ENST00000350721.4:c.7105C>T 0.20 9 37 72 42/47 Diffuse Large B-cell Lymphoma (BCGSC, Blood 2013) NU-DUL-1 Activated B-cell Type D331G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.06;SIFT: impact: tolerated_low_confidence, score: 0.43;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA NA 3 142281252 142281252 T C 3:g.142281252T>C ENST00000350721.4:c.992A>G 422 4/47 Chronic Lymphocytic Leukemia (IUOPA, Nature 2015) cll_iuopa_2015_442 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma C607R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.61;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA www.unioviedo.es/IUOPA/ 3 142277532 142277532 A G 3:g.142277532A>G ENST00000350721.4:c.1819T>C 12 8/47 Gastric Cancer (OncoSG, 2018) GIS003-apollo24 Stomach Adenocarcinoma P485H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: benign, score: 0.063 Missense_Mutation SNP diploid NA NA NA 3 142279192 142279192 G T 3:g.142279192G>T ENST00000350721.4:c.1454C>A 0.27 13 36 1271 6/47 Gastric Cancer (OncoSG, 2018) GIS003-apollo9 Stomach Adenocarcinoma V207D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated_low_confidence, score: 0.13;Polyphen-2: impact: benign, score: 0.042 Missense_Mutation SNP diploid NA NA NA 3 142281624 142281624 A T 3:g.142281624A>T ENST00000350721.4:c.620T>A 0.30 17 39 2548 4/47 Gastric Cancer (OncoSG, 2018) GIS003-CGP_donor_GC00002 Stomach Adenocarcinoma T268N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.62;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP shallowdel NA NA NA 3 142281441 142281441 G T 3:g.142281441G>T ENST00000350721.4:c.803C>A 0.26 9 26 150 4/47 Skin Cutaneous Melanoma (Yale, Nat Genet 2012) YUKADI Cutaneous Melanoma S2075F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.42;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP 1 somatic NA yale.edu 3 142189023 142189023 G A 3:g.142189023G>A ENST00000350721.4:c.6224C>T 128 37/47 Neuroendocrine Prostate Cancer (Multi-Institute, Nat Med 2016) WCMC79_2_N Prostate Neuroendocrine Carcinoma L8V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.055 Missense_Mutation SNP NA NA Weill Cornell Medical College 3 142297525 142297525 G C 3:g.142297525G>C ENST00000350721.4:c.22C>G 0.05 4 74 40 1/47 Breast Invasive Carcinoma (British Columbia, Nature 2012) SA210 Invasive Breast Carcinoma E1849K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.615;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.969 Missense_Mutation SNP 1 NA NA BC 3 142217452 142217452 C T 3:g.142217452C>T ENST00000350721.4:c.5545G>A 61 32/47 Breast Invasive Carcinoma (British Columbia, Nature 2012) SA218 Invasive Breast Carcinoma S1095L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.253 Missense_Mutation SNP 1 NA NA BC 3 142266640 142266640 G A 3:g.142266640G>A ENST00000350721.4:c.3284C>T 126 16/47 Breast Invasive Carcinoma (British Columbia, Nature 2012) SA220 Invasive Breast Carcinoma R1716S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.905 Missense_Mutation SNP 1 NA NA BC 3 142224029 142224029 C G 3:g.142224029C>G ENST00000350721.4:c.5148G>C 16 29/47 Breast Invasive Carcinoma (British Columbia, Nature 2012) SA227 Invasive Breast Carcinoma R2407H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.015;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.89 Missense_Mutation SNP 3 NA NA BC 3 142178198 142178198 C T 3:g.142178198C>T ENST00000350721.4:c.7220G>A 17 43/47 Metastatic Breast Cancer (INSERM, PLoS Med 2016) MBC_182 Invasive Breast Carcinoma E1664Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.13;Polyphen-2: impact: benign, score: 0.109 Missense_Mutation SNP gain Somatic NA GR 3 142226814 142226814 C G 3:g.142226814C>G ENST00000350721.4:c.4990G>C 0.11 29 225 204 160 28/47 Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) TCGA-KQ-A41Q-01 Bladder Urothelial Carcinoma V1957L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.92;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP diploid . . . 3 142215232 142215232 C A 3:g.142215232C>A ENST00000350721.4:c.5869G>T 0.10 4 36 43 231 34/47 Prostate Adenocarcinoma (Fred Hutchinson CRC, Nat Med 2016) 00-010N_PROSTATE Prostate Adenocarcinoma R668Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: probably_damaging, score: 0.992 Missense_Mutation SNP diploid 1 NA NA fhcrc 3 142275300 142275300 C T 3:g.142275300C>T ENST00000350721.4:c.2003G>A 0.08 3 34 931 9/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-DU-6392-01 Astrocytoma Q1638H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid . . . 3 142226890 142226890 C A 3:g.142226890C>A ENST00000350721.4:c.4914G>T 0.09 7 68 50 10863 28/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-DU-6392-01 Astrocytoma L383F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.78;SIFT: impact: deleterious_low_confidence, score: 0.04;Polyphen-2: impact: benign, score: 0.441 Missense_Mutation SNP diploid . . . 3 142281097 142281097 G A 3:g.142281097G>A ENST00000350721.4:c.1147C>T 0.38 21 35 66 10863 4/47 Brain Lower Grade Glioma (TCGA, PanCancer Atlas) TCGA-S9-A7QZ-01 Oligodendroglioma E323G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid . . . 3 142281276 142281276 T C 3:g.142281276T>C ENST00000350721.4:c.968A>G 0.09 12 115 129 58 4/47 Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-66-2771-01 Lung Squamous Cell Carcinoma V495I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.885;SIFT: impact: tolerated_low_confidence, score: 0.28;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP gain . . . 3 142279163 142279163 C T 3:g.142279163C>T ENST00000350721.4:c.1483G>A 0.27 0.03 23 63 2 74 243 6/47 Sarcoma (TCGA, PanCancer Atlas) TCGA-X6-A7WB-01 Leiomyosarcoma A1654D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.984 Missense_Mutation SNP diploid . . . 3 142226843 142226843 G T 3:g.142226843G>T ENST00000350721.4:c.4961C>A 0.07 5 66 77 346 28/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-3N-A9WC-06 Cutaneous Melanoma V505A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.645;SIFT: impact: tolerated_low_confidence, score: 0.88;Polyphen-2: impact: benign, score: 0.182 Missense_Mutation SNP diploid . . . 3 142279132 142279132 A G 3:g.142279132A>G ENST00000350721.4:c.1514T>C 0.22 11 40 53 1531 6/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A1Q3-06 Cutaneous Melanoma M1119I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.245;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0.373 Missense_Mutation SNP diploid . . . 3 142266567 142266567 C A 3:g.142266567C>A ENST00000350721.4:c.3357G>T 0.10 5 47 13 1458 16/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JC-06 Cutaneous Melanoma E1277D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.49;SIFT: impact: tolerated, score: 0.39;Polyphen-2: impact: benign, score: 0.072 Missense_Mutation SNP diploid 1 . . . 3 142254036 142254036 C A 3:g.142254036C>A ENST00000350721.4:c.3831G>T 0.17 7 34 23 3142 21/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JC-06 Cutaneous Melanoma W534L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.906 Missense_Mutation SNP diploid . . . 3 142278224 142278224 C A 3:g.142278224C>A ENST00000350721.4:c.1601G>T 0.09 4 42 48 3142 7/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JD-06 Cutaneous Melanoma M2401I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.455;SIFT: impact: tolerated, score: 0.19;Polyphen-2: impact: benign, score: 0.029 Missense_Mutation SNP diploid . . . 3 142178215 142178215 C A 3:g.142178215C>A ENST00000350721.4:c.7203G>T 0.12 3 22 36 1224 43/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JG-06 Cutaneous Melanoma R2459S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.36;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP shallowdel 2 . . . 3 142177928 142177928 G T 3:g.142177928G>T ENST00000350721.4:c.7375C>A 0.10 3 28 32 570 44/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-GN-A265-06 Cutaneous Melanoma R2459S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.36;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid 2 . . . 3 142177928 142177928 G T 3:g.142177928G>T ENST00000350721.4:c.7375C>A 0.10 4 35 70 968 44/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JP-06 Cutaneous Melanoma P1914Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated, score: 0.24;Polyphen-2: impact: benign, score: 0.04 Missense_Mutation SNP diploid . . . 3 142215360 142215360 G T 3:g.142215360G>T ENST00000350721.4:c.5741C>A 0.10 5 47 76 4149 34/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JP-06 Cutaneous Melanoma Q1073K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.837 Missense_Mutation SNP diploid . . . 3 142266707 142266707 G T 3:g.142266707G>T ENST00000350721.4:c.3217C>A 0.09 4 39 53 4149 16/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A2JP-06 Cutaneous Melanoma L1053I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.16;Polyphen-2: impact: benign, score: 0.077 Missense_Mutation SNP diploid . . . 3 142268335 142268335 G T 3:g.142268335G>T ENST00000350721.4:c.3157C>A 0.09 3 32 15 4149 15/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A3CE-06 Cutaneous Melanoma K1463N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.33;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.852 Missense_Mutation SNP diploid . . . 3 142234351 142234351 C A 3:g.142234351C>A ENST00000350721.4:c.4389G>T 0.08 3 33 23 2105 25/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D3-A3CE-06 Cutaneous Melanoma M402I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.265;SIFT: impact: tolerated_low_confidence, score: 0.52;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142280228 142280228 C A 3:g.142280228C>A ENST00000350721.4:c.1206G>T 0.10 3 27 29 2105 5/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-D9-A149-06 Cutaneous Melanoma S2110Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.22;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: benign, score: 0.445 Missense_Mutation SNP diploid 2 . . . 3 142188402 142188402 G T 3:g.142188402G>T ENST00000350721.4:c.6329C>A 0.09 4 42 51 727 38/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EB-A299-01 Cutaneous Melanoma G394C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.43;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: benign, score: 0.017 Missense_Mutation SNP . . . 3 142280254 142280254 C A 3:g.142280254C>A ENST00000350721.4:c.1180G>T 0.09 3 29 22 592 5/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A17Y-06 Cutaneous Melanoma R16L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.451 Missense_Mutation SNP shallowdel . . . 3 142297500 142297500 C A 3:g.142297500C>A ENST00000350721.4:c.47G>T 0.10 3 26 24 299 1/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A183-06 Cutaneous Melanoma G2W OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.67 Missense_Mutation SNP diploid . . . 3 142297543 142297543 C A 3:g.142297543C>A ENST00000350721.4:c.4G>T 0.18 3 14 35 2156 1/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A29X-06 Cutaneous Melanoma W2035C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.72;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP shallowdel . . . 3 142204098 142204098 C A 3:g.142204098C>A ENST00000350721.4:c.6105G>T 0.13 4 27 51 1026 36/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A2A5-06 Cutaneous Melanoma G2038V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.865;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.908 Missense_Mutation SNP diploid . . . 3 142204090 142204090 C A 3:g.142204090C>A ENST00000350721.4:c.6113G>T 0.08 3 34 37 472 36/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-EE-A3JH-06 Cutaneous Melanoma E2564K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.725;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.999 Missense_Mutation SNP gain 1 . . . 3 142172041 142172041 C T 3:g.142172041C>T ENST00000350721.4:c.7690G>A 0.09 7 67 105 143 46/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-ER-A19P-06 Cutaneous Melanoma L1056M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.873 Missense_Mutation SNP diploid . . . 3 142268326 142268326 G T 3:g.142268326G>T ENST00000350721.4:c.3166C>A 0.14 8 50 27 2916 15/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FS-A1Z4-06 Cutaneous Melanoma Q1108H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: possibly_damaging, score: 0.85 Missense_Mutation SNP diploid . . . 3 142266600 142266600 C A 3:g.142266600C>A ENST00000350721.4:c.3324G>T 0.12 4 30 50 609 16/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-FS-A4F0-06 Cutaneous Melanoma P304L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: tolerated_low_confidence, score: 0.1;Polyphen-2: impact: benign, score: 0.009 Missense_Mutation SNP diploid 1 . . . 3 142281333 142281333 G A 3:g.142281333G>A ENST00000350721.4:c.911C>T 0.38 46 75 148 468 4/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-WE-A8K5-06 Cutaneous Melanoma S1893F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.94;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid . . . 3 142215915 142215915 G A 3:g.142215915G>A ENST00000350721.4:c.5678C>T 0.44 45 57 107 947 33/47 Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) TCGA-Z2-A8RT-06 Cutaneous Melanoma P2188S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.29;SIFT: impact: tolerated, score: 0.43;Polyphen-2: impact: benign, score: 0.018 Missense_Mutation SNP diploid . . . 3 142186901 142186901 G A 3:g.142186901G>A ENST00000350721.4:c.6562C>T 0.41 83 117 119 2422 39/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_116 Colorectal Adenocarcinoma N973H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.556 Missense_Mutation SNP 1 NA NA dfci.harvard.edu 3 142269033 142269033 T G 3:g.142269033T>G ENST00000350721.4:c.2917A>C 4478 14/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_1745 Colorectal Adenocarcinoma D2318Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 4.295;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.982 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142184028 142184028 C A 3:g.142184028C>A ENST00000350721.4:c.6952G>T 139 41/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2354 Colorectal Adenocarcinoma A614V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated, score: 0.29;Polyphen-2: impact: benign, score: 0.099 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142277510 142277510 G A 3:g.142277510G>A ENST00000350721.4:c.1841C>T 565 8/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_242594 Colorectal Adenocarcinoma L1910H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.76;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142215864 142215864 A T 3:g.142215864A>T ENST00000350721.4:c.5729T>A 1395 33/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2564 Colorectal Adenocarcinoma A907T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.795;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.335 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142272155 142272155 C T 3:g.142272155C>T ENST00000350721.4:c.2719G>A 923 13/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2624 Colorectal Adenocarcinoma N1459Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: probably_damaging, score: 0.916 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142238518 142238518 T A 3:g.142238518T>A ENST00000350721.4:c.4375A>T 1413 24/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_2624 Colorectal Adenocarcinoma Q257H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.24;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142281473 142281473 C G 3:g.142281473C>G ENST00000350721.4:c.771G>C 1413 4/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3202 Colorectal Adenocarcinoma L1528I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.12;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.858 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142232402 142232402 G T 3:g.142232402G>T ENST00000350721.4:c.4582C>A 864 26/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_3319 Colorectal Adenocarcinoma T2628A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.17;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP NA NA dfci.harvard.edu 3 142168324 142168324 T C 3:g.142168324T>C ENST00000350721.4:c.7882A>G 1388 47/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_352566 Colorectal Adenocarcinoma W1784C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.11;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142218497 142218497 C A 3:g.142218497C>A ENST00000350721.4:c.5352G>T 536 31/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_352983 Colorectal Adenocarcinoma I461T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated_low_confidence, score: 0.58;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142279264 142279264 A G 3:g.142279264A>G ENST00000350721.4:c.1382T>C 1072 6/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_458 Colorectal Adenocarcinoma Q680L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.015 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142275264 142275264 T A 3:g.142275264T>A ENST00000350721.4:c.2039A>T 789 9/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_578 Colorectal Adenocarcinoma K401N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.245 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142280231 142280231 T G 3:g.142280231T>G ENST00000350721.4:c.1203A>C 3908 5/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_593 Colorectal Adenocarcinoma I574L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated_low_confidence, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142278105 142278105 T G 3:g.142278105T>G ENST00000350721.4:c.1720A>C 4305 7/47 Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016_593 Colorectal Adenocarcinoma R2008Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.02;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP NA NA dfci.harvard.edu 3 142212029 142212029 C T 3:g.142212029C>T ENST00000350721.4:c.6023G>A 4305 35/47 Diffuse Large B-Cell Lymphoma (TCGA, PanCancer Atlas) TCGA-GS-A9TZ-01 Diffuse Large B-Cell Lymphoma, NOS F40I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP shallowdel . . . 3 142286938 142286938 A T 3:g.142286938A>T ENST00000350721.4:c.118T>A 0.12 0.0018 47 359 1 570 379 2/47 Breast Invasive Carcinoma (Sanger, Nature 2012) PD4596a Invasive Breast Carcinoma D798H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: possibly_damaging, score: 0.541 Missense_Mutation SNP 1 Unknown Unknown Sanger 3 142272807 142272807 C G 3:g.142272807C>G ENST00000350721.4:c.2392G>C 132 11/47 Uterine Carcinosarcoma (Johns Hopkins, Nat Commun 2014) MM12T Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor L1506I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.162 Missense_Mutation SNP NA NA John Hopkins 3 142232468 142232468 G T 3:g.142232468G>T ENST00000350721.4:c.4516C>A 5500 26/47 Breast Cancer (SMC 2018) brca_smc_2018_BB01_035 Breast Invasive Ductal Carcinoma D1121N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.295;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP NA NA NA 3 142261596 142261596 C T 3:g.142261596C>T ENST00000350721.4:c.3361G>A 13 17/47 Breast Cancer (SMC 2018) brca_smc_2018_BB01_080 Breast Invasive Ductal Carcinoma S1838T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.89;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.975 Missense_Mutation SNP NA NA NA 3 142217484 142217484 C G 3:g.142217484C>G ENST00000350721.4:c.5513G>C 53 32/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G1-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma A1303D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.915;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.992 Missense_Mutation SNP diploid . . . 3 142253959 142253959 G T 3:g.142253959G>T ENST00000350721.4:c.3908C>A 0.15 15 83 172 10820 21/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G1-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma R1025H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: tolerated, score: 0.08;Polyphen-2: impact: benign, score: 0.074 Missense_Mutation SNP diploid 2 . . . 3 142268418 142268418 C T 3:g.142268418C>T ENST00000350721.4:c.3074G>A 0.17 13 62 104 10820 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G2-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma T2269A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.15;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.601 Missense_Mutation SNP diploid . . . 3 142185258 142185258 T C 3:g.142185258T>C ENST00000350721.4:c.6805A>G 0.22 50 175 234 25711 40/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G2-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma E1452K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.71;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.973 Missense_Mutation SNP diploid . . . 3 142238539 142238539 C T 3:g.142238539C>T ENST00000350721.4:c.4354G>A 0.48 121 132 268 25711 24/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A0G2-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma D1380G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.27;SIFT: impact: tolerated, score: 0.45;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 . . . 3 142242848 142242848 T C 3:g.142242848T>C ENST00000350721.4:c.4139A>G 0.41 130 184 348 25711 22/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A1OF-01 Uterine Mixed Endometrial Carcinoma Y1312H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.39;SIFT: impact: tolerated, score: 0.65;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142253933 142253933 A G 3:g.142253933A>G ENST00000350721.4:c.3934T>C 0.33 9 18 17 10493 21/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-A5-A2K5-01 Uterine Endometrioid Carcinoma F251C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: benign, score: 0.169 Missense_Mutation SNP diploid . . . 3 142281492 142281492 A C 3:g.142281492A>C ENST00000350721.4:c.752T>G 0.42 11 15 28 8509 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A3BG-01 Uterine Mixed Endometrial Carcinoma C2326R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.965;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid . . . 3 142184004 142184004 A G 3:g.142184004A>G ENST00000350721.4:c.6976T>C 0.32 13 28 40 1274 41/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AJ-A3EK-01 Uterine Endometrioid Carcinoma H1735N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.83;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.948 Missense_Mutation SNP diploid . . . 3 142222289 142222289 G T 3:g.142222289G>T ENST00000350721.4:c.5203C>A 0.21 8 31 29 5730 30/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A051-01 Uterine Endometrioid Carcinoma S198I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: benign, score: 0.241 Missense_Mutation SNP diploid 1 . . . 3 142281651 142281651 C A 3:g.142281651C>A ENST00000350721.4:c.593G>T 0.35 36 66 150 8312 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A056-01 Uterine Endometrioid Carcinoma I2273S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.805;SIFT: impact: tolerated, score: 0.47;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142185245 142185245 A C 3:g.142185245A>C ENST00000350721.4:c.6818T>G 0.08 19 207 232 8230 40/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A0LM-01 Uterine Endometrioid Carcinoma F990V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid . . . 3 142268982 142268982 A C 3:g.142268982A>C ENST00000350721.4:c.2968T>G 0.10 6 53 192 13187 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AP-A1DV-01 Uterine Endometrioid Carcinoma D1544Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.135;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.916 Missense_Mutation SNP diploid . . . 3 142232354 142232354 C A 3:g.142232354C>A ENST00000350721.4:c.4630G>T 0.45 18 22 40 12063 26/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A06F-01 Uterine Endometrioid Carcinoma F204C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.2;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142281633 142281633 A C 3:g.142281633A>C ENST00000350721.4:c.611T>G 0.44 54 70 137 7282 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HC-01 Uterine Endometrioid Carcinoma K1263N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142254980 142254980 C A 3:g.142254980C>A ENST00000350721.4:c.3789G>T 0.42 27 38 81 12976 20/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HC-01 Uterine Endometrioid Carcinoma R161I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.55;SIFT: impact: tolerated_low_confidence, score: 0.3;Polyphen-2: impact: benign, score: 0.012 Missense_Mutation SNP diploid . . . 3 142281762 142281762 C A 3:g.142281762C>A ENST00000350721.4:c.482G>T 0.57 30 23 65 12976 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-AX-A2HD-01 Uterine Endometrioid Carcinoma P2229L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.9;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.153 Missense_Mutation SNP diploid . . . 3 142186777 142186777 G A 3:g.142186777G>A ENST00000350721.4:c.6686C>T 0.30 8 19 35 7848 39/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A11E-01 Uterine Endometrioid Carcinoma N1565D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.7;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142231261 142231261 T C 3:g.142231261T>C ENST00000350721.4:c.4693A>G 0.06 7 102 200 9039 27/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A1MR-01 Uterine Endometrioid Carcinoma E1776D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.955;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP gain . . . 3 142218521 142218521 T G 3:g.142218521T>G ENST00000350721.4:c.5328A>C 0.12 7 53 36 7305 31/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma T2641A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.135;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid . . . 3 142168285 142168285 T C 3:g.142168285T>C ENST00000350721.4:c.7921A>G 0.34 23 44 58 9652 47/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma V2212A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.815;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.08 Missense_Mutation SNP diploid . . . 3 142186828 142186828 A G 3:g.142186828A>G ENST00000350721.4:c.6635T>C 0.49 26 27 44 9652 39/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma L1396S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.905;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid . . . 3 142241649 142241649 A G 3:g.142241649A>G ENST00000350721.4:c.4187T>C 0.37 28 47 75 9652 23/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma L1118P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.28;Polyphen-2: impact: benign, score: 0.271 Missense_Mutation SNP diploid . . . 3 142266571 142266571 A G 3:g.142266571A>G ENST00000350721.4:c.3353T>C 0.40 27 41 67 9652 16/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-B5-A3FA-01 Uterine Endometrioid Carcinoma Q447R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.79;SIFT: impact: tolerated_low_confidence, score: 0.48;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid . . . 3 142280094 142280094 T C 3:g.142280094T>C ENST00000350721.4:c.1340A>G 0.33 22 45 59 9652 5/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-BG-A222-01 Uterine Endometrioid Carcinoma H2559R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.06;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP diploid . . . 3 142172055 142172055 T C 3:g.142172055T>C ENST00000350721.4:c.7676A>G 0.36 15 27 49 4274 46/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-D1-A1O7-01 Uterine Endometrioid Carcinoma C2409Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.205;SIFT: impact: tolerated, score: 0.97;Polyphen-2: impact: benign, score: 0.24 Missense_Mutation SNP diploid 1 . . . 3 142178192 142178192 C T 3:g.142178192C>T ENST00000350721.4:c.7226G>A 0.12 3 22 22 329 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-DF-A2KU-01 Uterine Endometrioid Carcinoma S834Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.155;SIFT: impact: tolerated, score: 0.12;Polyphen-2: impact: benign, score: 0.049 Missense_Mutation SNP diploid . . . 3 142272698 142272698 G T 3:g.142272698G>T ENST00000350721.4:c.2501C>A 0.28 14 36 23 10052 11/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-E6-A1LX-01 Uterine Endometrioid Carcinoma K2166R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.88;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.076 Missense_Mutation SNP diploid . . . 3 142188234 142188234 T C 3:g.142188234T>C ENST00000350721.4:c.6497A>G 0.24 10 32 40 12691 38/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-E6-A1M0-01 Uterine Endometrioid Carcinoma V2265G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.44;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.276 Missense_Mutation SNP diploid . . . 3 142185269 142185269 A C 3:g.142185269A>C ENST00000350721.4:c.6794T>G 0.36 14 25 51 1737 40/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22R-01 Uterine Endometrioid Carcinoma V2399L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.06;SIFT: impact: tolerated, score: 0.46;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142178223 142178223 C A 3:g.142178223C>A ENST00000350721.4:c.7195G>T 0.29 5 12 16 12771 43/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22R-01 Uterine Endometrioid Carcinoma L2070I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.195;SIFT: impact: tolerated, score: 0.39;Polyphen-2: impact: benign, score: 0.025 Missense_Mutation SNP diploid . . . 3 142203995 142203995 G T 3:g.142203995G>T ENST00000350721.4:c.6208C>A 0.46 11 13 37 12771 36/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22R-01 Uterine Endometrioid Carcinoma E1027D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.106 Missense_Mutation SNP diploid . . . 3 142268411 142268411 C A 3:g.142268411C>A ENST00000350721.4:c.3081G>T 0.23 9 30 39 12771 15/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22X-01 Uterine Endometrioid Carcinoma S2313Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.065;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.398 Missense_Mutation SNP diploid . . . 3 142184042 142184042 G T 3:g.142184042G>T ENST00000350721.4:c.6938C>A 0.11 4 31 52 9429 41/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22X-01 Uterine Endometrioid Carcinoma S2240N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.57;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142185344 142185344 C T 3:g.142185344C>T ENST00000350721.4:c.6719G>A 0.23 8 27 36 9429 40/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22X-01 Uterine Endometrioid Carcinoma K803N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.2;Polyphen-2: impact: benign, score: 0.212 Missense_Mutation SNP diploid 1 . . . 3 142272790 142272790 T G 3:g.142272790T>G ENST00000350721.4:c.2409A>C 0.43 9 12 31 9429 11/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A22X-01 Uterine Endometrioid Carcinoma N201T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.975;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: benign, score: 0.057 Missense_Mutation SNP diploid . . . 3 142281642 142281642 T G 3:g.142281642T>G ENST00000350721.4:c.602A>C 0.33 8 16 31 9429 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3AV-01 Uterine Endometrioid Carcinoma L2531I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.455;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: benign, score: 0.383 Missense_Mutation SNP diploid . . . 3 142176510 142176510 G T 3:g.142176510G>T ENST00000350721.4:c.7591C>A 0.40 4 6 25 4093 45/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3AV-01 Uterine Endometrioid Carcinoma L318S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid . . . 3 142281291 142281291 A G 3:g.142281291A>G ENST00000350721.4:c.953T>C 0.21 4 15 41 4093 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3AY-01 Uterine Endometrioid Carcinoma S1140N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.18;Polyphen-2: impact: benign, score: 0.247 Missense_Mutation SNP diploid . . . 3 142261538 142261538 C T 3:g.142261538C>T ENST00000350721.4:c.3419G>A 0.27 34 91 61 3383 17/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma V1655A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.075;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.215 Missense_Mutation SNP diploid . . . 3 142226840 142226840 A G 3:g.142226840A>G ENST00000350721.4:c.4964T>C 0.35 12 22 46 10909 28/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma K704N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.655 Missense_Mutation SNP diploid 1 . . . 3 142274948 142274948 C A 3:g.142274948C>A ENST00000350721.4:c.2112G>T 0.54 14 12 22 10909 10/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EO-A3B0-01 Uterine Endometrioid Carcinoma R311K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.68;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid . . . 3 142281312 142281312 C T 3:g.142281312C>T ENST00000350721.4:c.932G>A 0.30 8 19 24 10909 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EY-A1GE-01 Uterine Endometrioid Carcinoma M850T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.5;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.22 Missense_Mutation SNP diploid . . . 3 142272566 142272566 A G 3:g.142272566A>G ENST00000350721.4:c.2549T>C 0.47 9 10 10 41 12/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EY-A212-01 Uterine Serous Carcinoma/Uterine Papillary Serous Carcinoma L1203R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.98 Missense_Mutation SNP diploid . . . 3 142257441 142257441 A C 3:g.142257441A>C ENST00000350721.4:c.3608T>G 0.07 5 66 59 63 19/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-EY-A215-01 Uterine Endometrioid Carcinoma A345S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: tolerated_low_confidence, score: 0.27;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP diploid . . . 3 142281211 142281211 C A 3:g.142281211C>A ENST00000350721.4:c.1033G>T 0.54 7 6 25 4650 4/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2D0-01 Uterine Endometrioid Carcinoma T974M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -1.1;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid . . . 3 142269029 142269029 G A 3:g.142269029G>A ENST00000350721.4:c.2921C>T 0.34 10 19 45 6445 14/47 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) TCGA-FI-A2F4-01 Uterine Endometrioid Carcinoma I1478T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.705;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.797 Missense_Mutation SNP diploid . . . 3 142234307 142234307 A G 3:g.142234307A>G ENST00000350721.4:c.4433T>C 0.39 0.02 21 33 1 53 1908 25/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-C8-A8HP-01 Metaplastic Breast Cancer E1543Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.475;SIFT: impact: tolerated, score: 0.11;Polyphen-2: impact: possibly_damaging, score: 0.743 Missense_Mutation SNP gain . . . 3 142232357 142232357 C G 3:g.142232357C>G ENST00000350721.4:c.4627G>C 0.15 11 60 64 145 26/47 Breast Invasive Carcinoma (TCGA, PanCancer Atlas) TCGA-UU-A93S-01 Breast Invasive Ductal Carcinoma C1192Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.045;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.962 Missense_Mutation SNP gain . . . 3 142259752 142259752 C T 3:g.142259752C>T ENST00000350721.4:c.3575G>A 0.19 16 70 52 139 18/47 Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-EA-A97N-01 Cervical Squamous Cell Carcinoma D2096H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.105;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.959 Missense_Mutation SNP gain . . . 3 142188961 142188961 C G 3:g.142188961C>G ENST00000350721.4:c.6286G>C 0.08 6 67 27 107 37/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-EI-6883-01 Rectal Adenocarcinoma Q2635P OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 3.39;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid 2 . . . 3 142168302 142168302 T G 3:g.142168302T>G ENST00000350721.4:c.7904A>C 0.42 54 76 123 90 47/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-F5-6814-01 Rectal Adenocarcinoma L2393R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.24;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: benign, score: 0.164 Missense_Mutation SNP diploid . . . 3 142180796 142180796 A C 3:g.142180796A>C ENST00000350721.4:c.7178T>G 0.10 7 65 147 9454 42/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-A6-6648-01 Colon Adenocarcinoma E1543del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid 1 . . . 3 142232353 142232355 TCT - 3:g.142232353_142232355del ENST00000350721.4:c.4629_4631del 0.22 46 164 231 88 26/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3496-01 Colon Adenocarcinoma D1634N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: benign, score: 0.012 Missense_Mutation SNP diploid 1 . . . 3 142226904 142226904 C T 3:g.142226904C>T ENST00000350721.4:c.4900G>A 0.31 22 48 55 145 28/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3502-01 Colon Adenocarcinoma E7V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid 1 . . . 3 142297527 142297527 T A 3:g.142297527T>A ENST00000350721.4:c.20A>T 0.29 12 30 76 167 1/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-AA-3713-01 Colon Adenocarcinoma D455G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 1.995;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: benign, score: 0.368 Missense_Mutation SNP diploid 1 . . . 3 142279282 142279282 T C 3:g.142279282T>C ENST00000350721.4:c.1364A>G 0.34 64 122 44 1021 6/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CA-6717-01 Mucinous Adenocarcinoma of the Colon and Rectum L1268F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.75;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.929 Missense_Mutation SNP diploid . . . 3 142254967 142254967 G A 3:g.142254967G>A ENST00000350721.4:c.3802C>T 0.14 0.0034 27 164 1 294 9586 20/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-CA-6717-01 Mucinous Adenocarcinoma of the Colon and Rectum I1239L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.495;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 1 . . . 3 142257334 142257334 T G 3:g.142257334T>G ENST00000350721.4:c.3715A>C 0.15 19 109 119 9586 19/47 Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-D5-6536-01 Colon Adenocarcinoma F766L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP shallowdel 1 . . . 3 142274762 142274762 G T 3:g.142274762G>T ENST00000350721.4:c.2298C>A 0.41 26 38 70 107 10/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-CN-6010-01 Head and Neck Squamous Cell Carcinoma R215S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated_low_confidence, score: 0.28;Polyphen-2: impact: benign, score: 0.011 Missense_Mutation SNP gain 1 . . . 3 142281601 142281601 G T 3:g.142281601G>T ENST00000350721.4:c.643C>A 0.09 7 71 28 1665 4/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-QK-A6II-01 Head and Neck Squamous Cell Carcinoma V1802A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.37;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.453 Missense_Mutation SNP diploid . . . 3 142217592 142217592 A G 3:g.142217592A>G ENST00000350721.4:c.5405T>C 0.13 4 27 32 155 32/47 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-UF-A7J9-01 Head and Neck Squamous Cell Carcinoma D1243H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.135;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.613 Missense_Mutation SNP amp . . . 3 142255042 142255042 C G 3:g.142255042C>G ENST00000350721.4:c.3727G>C 0.10 15 140 59 224 20/47 Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas) TCGA-GL-A4EM-01 Papillary Renal Cell Carcinoma L502M OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: tolerated_low_confidence, score: 0.06;Polyphen-2: impact: probably_damaging, score: 0.933 Missense_Mutation SNP diploid 1 . . . 3 142279142 142279142 G T 3:g.142279142G>T ENST00000350721.4:c.1504C>A 0.13 0.0047 25 168 1 214 60 6/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z010-01 Lung Adenocarcinoma Q458K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.69;SIFT: impact: tolerated_low_confidence, score: 0.98;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP . . . 3 142279274 142279274 G T 3:g.142279274G>T ENST00000350721.4:c.1372C>A 0.21 14 52 55 245 6/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z015-01 Lung Adenocarcinoma V281L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.46;SIFT: impact: tolerated_low_confidence, score: 0.54;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP . . . 3 142281403 142281403 C A 3:g.142281403C>A ENST00000350721.4:c.841G>T 0.32 15 32 36 467 4/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z022-01 Lung Adenocarcinoma L2638F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.425;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP . . . 3 142168294 142168294 G A 3:g.142168294G>A ENST00000350721.4:c.7912C>T 0.18 16 73 125 1078 47/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z023-01 Lung Adenocarcinoma V1200L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.24;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: probably_damaging, score: 0.96 Missense_Mutation SNP . . . 3 142257451 142257451 C G 3:g.142257451C>G ENST00000350721.4:c.3598G>C 0.09 10 101 72 361 19/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z023-01 Lung Adenocarcinoma P358S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.469 Missense_Mutation SNP 1 . . . 3 142281172 142281172 G A 3:g.142281172G>A ENST00000350721.4:c.1072C>T 0.06 3 44 33 361 4/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z043-01 Lung Adenocarcinoma N319Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.905;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.642 Missense_Mutation SNP . . . 3 142281289 142281289 T A 3:g.142281289T>A ENST00000350721.4:c.955A>T 0.39 12 19 62 177 4/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-17-Z060-01 Lung Adenocarcinoma G2038E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.865;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.908 Missense_Mutation SNP . . . 3 142204090 142204090 C T 3:g.142204090C>T ENST00000350721.4:c.6113G>A 0.26 0.0067 45 131 1 149 217 36/47 Lung Adenocarcinoma (TCGA, PanCancer Atlas) TCGA-49-AARQ-01 Lung Adenocarcinoma G1209C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.54;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP gain . . . 3 142257424 142257424 C A 3:g.142257424C>A ENST00000350721.4:c.3625G>T 0.51 34 33 96 640 19/47 Breast Cancer (MSKCC, NPJ Breast Cancer 2019) s_DS_bkm_004_T Invasive Breast Carcinoma H1709_E1710del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL diploid SOMATIC_VS_POOL NA MSK-IMPACT 3 142224047 142224052 TTCATG - 3:g.142224047_142224052del ENST00000350721.4:c.5125_5130del 0.25 244 734 1083 10 29/47 Breast Cancer (MSKCC, NPJ Breast Cancer 2019) s_DS_bkm_023_T Invasive Breast Carcinoma E650K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.69;SIFT: impact: tolerated, score: 0.7;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid SOMATIC_VS_POOL NA MSK-IMPACT 3 142275355 142275355 C T 3:g.142275355C>T ENST00000350721.4:c.1948G>A 0.07 55 775 1037 13 9/47 Non-Small Cell Lung Cancer (MSK, Cancer Cell 2018) nsclc_mskcc_2018s55 Lung Adenocarcinoma C1198F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.015;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.786 Missense_Mutation SNP NA NA MSKCC 3 142257456 142257456 C A 3:g.142257456C>A ENST00000350721.4:c.3593G>T 0.17 13 63 204 19/47 Non-Small Cell Lung Cancer (MSK, Cancer Cell 2018) nsclc_mskcc_2018s26 Lung Adenocarcinoma E1992V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: deleterious, score: 0.03;Polyphen-2: impact: benign, score: 0.086 Missense_Mutation SNP NA NA MSKCC 3 142212077 142212077 T A 3:g.142212077T>A ENST00000350721.4:c.5975A>T 0.28 38 96 1287 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0340 Invasive Breast Carcinoma E2506K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.345;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.627 Missense_Mutation SNP NA NA METABRIC 3 142176585 142176585 C T 3:g.142176585C>T ENST00000350721.4:c.7516G>A 31 45/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0305 Breast Invasive Ductal Carcinoma E226Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.54;Polyphen-2: impact: benign, score: 0.105 Missense_Mutation SNP NA NA METABRIC 3 142281568 142281568 C G 3:g.142281568C>G ENST00000350721.4:c.676G>C 7 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0241 Breast Invasive Ductal Carcinoma R1929T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.555;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.989 Missense_Mutation SNP diploid NA NA METABRIC 3 142215315 142215315 C G 3:g.142215315C>G ENST00000350721.4:c.5786G>C 6 34/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0270 Breast Invasive Ductal Carcinoma Y2046C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: tolerated, score: 0.05;Polyphen-2: impact: possibly_damaging, score: 0.658 Missense_Mutation SNP diploid NA NA METABRIC 3 142204066 142204066 T C 3:g.142204066T>C ENST00000350721.4:c.6137A>G 4 36/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0306 Breast Invasive Ductal Carcinoma R515L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.69;SIFT: impact: tolerated_low_confidence, score: 0.56;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid 2 NA NA METABRIC 3 142278281 142278281 C A 3:g.142278281C>A ENST00000350721.4:c.1544G>T 21 7/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0342 Breast Invasive Lobular Carcinoma E1986_P1990del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL shallowdel NA NA METABRIC 3 142212083 142212097 GGGGTTTCATTTTCA - 3:g.142212083_142212097del ENST00000350721.4:c.5955_5969del 3 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5205 Breast Invasive Ductal Carcinoma E1986_P1990del OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: NA;SIFT: NA;Polyphen-2: NA In_Frame_Del DEL gain NA NA METABRIC 3 142212083 142212097 GGGGTTTCATTTTCA - 3:g.142212083_142212097del ENST00000350721.4:c.5955_5969del 9 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0361 Breast Invasive Ductal Carcinoma R2544H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.81;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP shallowdel 1 NA NA METABRIC 3 142176470 142176470 C T 3:g.142176470C>T ENST00000350721.4:c.7631G>A 7 45/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0365 Breast Invasive Mixed Mucinous Carcinoma D183H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.805;SIFT: impact: tolerated_low_confidence, score: 0.09;Polyphen-2: impact: benign, score: 0.2 Missense_Mutation SNP diploid NA NA METABRIC 3 142281697 142281697 C G 3:g.142281697C>G ENST00000350721.4:c.547G>C 6 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0379 Breast Invasive Ductal Carcinoma D2298N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.08;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.976 Missense_Mutation SNP diploid NA NA METABRIC 3 142185171 142185171 C T 3:g.142185171C>T ENST00000350721.4:c.6892G>A 5 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-0616 Breast Invasive Ductal Carcinoma S2264L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.985;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.762 Missense_Mutation SNP diploid NA NA METABRIC 3 142185272 142185272 G A 3:g.142185272G>A ENST00000350721.4:c.6791C>T 5 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7024 Breast Invasive Ductal Carcinoma R2431G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.435;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid 1 NA NA METABRIC 3 142178127 142178127 T C 3:g.142178127T>C ENST00000350721.4:c.7291A>G 9 43/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7038 Breast Invasive Ductal Carcinoma H1672R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.505;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.925 Missense_Mutation SNP gain NA NA METABRIC 3 142226789 142226789 T C 3:g.142226789T>C ENST00000350721.4:c.5015A>G 16 28/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7076 Breast Invasive Ductal Carcinoma I1900L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.545;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: benign, score: 0.08 Missense_Mutation SNP diploid NA NA METABRIC 3 142215895 142215895 T G 3:g.142215895T>G ENST00000350721.4:c.5698A>C 6 33/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7097 Breast Invasive Ductal Carcinoma D1717N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.9;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.953 Missense_Mutation SNP diploid NA NA METABRIC 3 142224028 142224028 C T 3:g.142224028C>T ENST00000350721.4:c.5149G>A 10 29/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7101 Breast Invasive Lobular Carcinoma V1614A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated, score: 0.98;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142231113 142231113 A G 3:g.142231113A>G ENST00000350721.4:c.4841T>C 5 27/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0201 Breast Invasive Ductal Carcinoma S2455L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.36;SIFT: impact: tolerated, score: 0.36;Polyphen-2: impact: benign, score: 0.14 Missense_Mutation SNP NA NA METABRIC 3 142177939 142177939 G A 3:g.142177939G>A ENST00000350721.4:c.7364C>T 3 44/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7141 Breast Invasive Ductal Carcinoma S595L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.095;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.991 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142277567 142277567 G A 3:g.142277567G>A ENST00000350721.4:c.1784C>T 8 8/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0206 Breast Invasive Lobular Carcinoma E1992G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.265;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: benign, score: 0.01 Missense_Mutation SNP NA NA METABRIC 3 142212077 142212077 T C 3:g.142212077T>C ENST00000350721.4:c.5975A>G 10 35/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7218 Breast Invasive Lobular Carcinoma M1175T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.14;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.983 Missense_Mutation SNP diploid NA NA METABRIC 3 142259803 142259803 A G 3:g.142259803A>G ENST00000350721.4:c.3524T>C 5 18/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0223 Breast Invasive Ductal Carcinoma T1284A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.975;SIFT: impact: tolerated, score: 0.88;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA METABRIC 3 142254017 142254017 T C 3:g.142254017T>C ENST00000350721.4:c.3850A>G 7 21/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-7263 Breast Invasive Ductal Carcinoma I2267V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: tolerated, score: 0.3;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP diploid NA NA METABRIC 3 142185264 142185264 T C 3:g.142185264T>C ENST00000350721.4:c.6799A>G 6 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T1203 Breast Invasive Ductal Carcinoma I461K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: tolerated_low_confidence, score: 0.92;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA METABRIC 3 142279264 142279264 A T 3:g.142279264A>T ENST00000350721.4:c.1382T>A 5 6/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2742 Breast Invasive Ductal Carcinoma Y2622H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.255;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP diploid NA NA METABRIC 3 142168342 142168342 A G 3:g.142168342A>G ENST00000350721.4:c.7864T>C 7 47/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2844 Breast Invasive Ductal Carcinoma D2297H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.855;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.847 Missense_Mutation SNP diploid NA NA METABRIC 3 142185174 142185174 C G 3:g.142185174C>G ENST00000350721.4:c.6889G>C 8 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-2919 Breast Invasive Mixed Mucinous Carcinoma R1631H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.79;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP diploid NA NA METABRIC 3 142226912 142226912 C T 3:g.142226912C>T ENST00000350721.4:c.4892G>A 5 28/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3013 Breast Invasive Ductal Carcinoma A2253T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.405;SIFT: impact: tolerated, score: 0.43;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142185306 142185306 C T 3:g.142185306C>T ENST00000350721.4:c.6757G>A 3 40/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3104 Breast Invasive Ductal Carcinoma S1616A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated, score: 0.83;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142231108 142231108 A C 3:g.142231108A>C ENST00000350721.4:c.4846T>G 9 27/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3181 Breast Invasive Ductal Carcinoma H602R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.22;Polyphen-2: impact: benign, score: 0.092 Missense_Mutation SNP diploid NA NA METABRIC 3 142277546 142277546 T C 3:g.142277546T>C ENST00000350721.4:c.1805A>G 12 8/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3367 Breast Invasive Ductal Carcinoma R548K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.885;SIFT: impact: tolerated_low_confidence, score: 0.54;Polyphen-2: impact: benign, score: 0.001 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142278182 142278182 C T 3:g.142278182C>T ENST00000350721.4:c.1643G>A 9 7/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3396 Breast Invasive Ductal Carcinoma R1026T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: tolerated, score: 0.06;Polyphen-2: impact: benign, score: 0.049 Missense_Mutation SNP diploid NA NA METABRIC 3 142268415 142268415 C G 3:g.142268415C>G ENST00000350721.4:c.3077G>C 12 15/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3453 Breast Invasive Ductal Carcinoma E91V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.355;SIFT: impact: deleterious_low_confidence, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.676 Missense_Mutation SNP diploid NA NA METABRIC 3 142284983 142284983 T A 3:g.142284983T>A ENST00000350721.4:c.272A>T 14 3/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-3978 Breast Invasive Ductal Carcinoma A1266D OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.53;SIFT: impact: tolerated, score: 0.62;Polyphen-2: impact: benign, score: 0.075 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142254972 142254972 G T 3:g.142254972G>T ENST00000350721.4:c.3797C>A 9 20/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T1548 Breast Invasive Ductal Carcinoma K1160R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.625;SIFT: impact: tolerated, score: 0.5;Polyphen-2: impact: benign, score: 0.03 Missense_Mutation SNP NA NA METABRIC 3 142259848 142259848 T C 3:g.142259848T>C ENST00000350721.4:c.3479A>G 5 18/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4621 Breast Invasive Ductal Carcinoma A823G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: tolerated, score: 0.26;Polyphen-2: impact: benign, score: 0.095 Missense_Mutation SNP diploid NA NA METABRIC 3 142272731 142272731 G C 3:g.142272731G>C ENST00000350721.4:c.2468C>G 5 11/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4696 Breast Invasive Ductal Carcinoma L987V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.65;SIFT: impact: tolerated, score: 0.17;Polyphen-2: impact: benign, score: 0.096 Missense_Mutation SNP diploid NA NA METABRIC 3 142268991 142268991 G C 3:g.142268991G>C ENST00000350721.4:c.2959C>G 8 14/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4708 Breast Invasive Lobular Carcinoma E969Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: benign, score: 0.322 Missense_Mutation SNP gain NA NA METABRIC 3 142269045 142269045 C G 3:g.142269045C>G ENST00000350721.4:c.2905G>C 11 14/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4806 Breast Invasive Ductal Carcinoma G1948R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.435;SIFT: impact: tolerated, score: 0.25;Polyphen-2: impact: possibly_damaging, score: 0.817 Missense_Mutation SNP diploid NA NA METABRIC 3 142215259 142215259 C T 3:g.142215259C>T ENST00000350721.4:c.5842G>A 4 34/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0877 Breast Invasive Ductal Carcinoma E665K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP NA NA METABRIC 3 142275310 142275310 C T 3:g.142275310C>T ENST00000350721.4:c.1993G>A 6 9/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4849 Breast Invasive Ductal Carcinoma L81F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.895;SIFT: impact: deleterious_low_confidence, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.997 Missense_Mutation SNP diploid NA NA METABRIC 3 142285014 142285014 G A 3:g.142285014G>A ENST00000350721.4:c.241C>T 5 3/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-4879 Breast Invasive Ductal Carcinoma M197T OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated_low_confidence, score: 0.6;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP shallowdel NA NA METABRIC 3 142281654 142281654 A G 3:g.142281654A>G ENST00000350721.4:c.590T>C 10 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5049 Breast Mixed Ductal and Lobular Carcinoma G2398R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.995;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA METABRIC 3 142180782 142180782 C T 3:g.142180782C>T ENST00000350721.4:c.7192G>A 3 42/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5078 Breast Invasive Ductal Carcinoma M721V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.345;SIFT: impact: tolerated, score: 0.32;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142274899 142274899 T C 3:g.142274899T>C ENST00000350721.4:c.2161A>G 6 10/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5166 Breast Invasive Ductal Carcinoma G1847E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.685;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid NA NA METABRIC 3 142217457 142217457 C T 3:g.142217457C>T ENST00000350721.4:c.5540G>A 8 32/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5275 Breast Invasive Ductal Carcinoma E1954K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.595;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.936 Missense_Mutation SNP diploid NA NA METABRIC 3 142215241 142215241 C T 3:g.142215241C>T ENST00000350721.4:c.5860G>A 80 34/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5299 Breast Invasive Lobular Carcinoma D2560N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.56;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP amp NA NA METABRIC 3 142172053 142172053 C T 3:g.142172053C>T ENST00000350721.4:c.7678G>A 8 46/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5331 Breast Invasive Ductal Carcinoma H1760R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.755;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: benign, score: 0.124 Missense_Mutation SNP diploid NA NA METABRIC 3 142222213 142222213 T C 3:g.142222213T>C ENST00000350721.4:c.5279A>G 6 30/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5338 Breast Invasive Ductal Carcinoma L2554F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.625;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 1 Missense_Mutation SNP gain NA NA METABRIC 3 142172069 142172069 T G 3:g.142172069T>G ENST00000350721.4:c.7662A>C 11 46/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5338 Breast Invasive Ductal Carcinoma A1694S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.085;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: probably_damaging, score: 0.992 Missense_Mutation SNP gain NA NA METABRIC 3 142224097 142224097 C A 3:g.142224097C>A ENST00000350721.4:c.5080G>T 11 29/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5404 Breast Invasive Ductal Carcinoma K1320R OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.86;SIFT: impact: tolerated, score: 0.24;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142243028 142243028 T C 3:g.142243028T>C ENST00000350721.4:c.3959A>G 11 22/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5530 Breast Invasive Ductal Carcinoma T1337I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.215;SIFT: impact: deleterious, score: 0.01;Polyphen-2: impact: possibly_damaging, score: 0.677 Missense_Mutation SNP diploid NA NA METABRIC 3 142242977 142242977 G A 3:g.142242977G>A ENST00000350721.4:c.4010C>T 6 22/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-5533 Breast Mixed Ductal and Lobular Carcinoma V157I OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.695;SIFT: impact: tolerated_low_confidence, score: 1;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142281775 142281775 C T 3:g.142281775C>T ENST00000350721.4:c.469G>A 7 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6011 Breast Invasive Ductal Carcinoma Y1527C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.545;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: probably_damaging, score: 0.985 Missense_Mutation SNP diploid NA NA METABRIC 3 142232404 142232404 T C 3:g.142232404T>C ENST00000350721.4:c.4580A>G 7 26/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6060 Breast Invasive Ductal Carcinoma I219V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.55;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142281589 142281589 T C 3:g.142281589T>C ENST00000350721.4:c.655A>G 12 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6190 Breast Invasive Ductal Carcinoma R1814G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.525;SIFT: impact: tolerated, score: 0.21;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA METABRIC 3 142217557 142217557 T C 3:g.142217557T>C ENST00000350721.4:c.5440A>G 7 32/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MB-6226 Breast Mixed Ductal and Lobular Carcinoma D388H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0;SIFT: impact: tolerated_low_confidence, score: 0.27;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP gain 1 NA NA METABRIC 3 142281082 142281082 C G 3:g.142281082C>G ENST00000350721.4:c.1162G>C 5 4/47 Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) MTS-T0722 Breast Invasive Ductal Carcinoma L247Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 0.895;SIFT: impact: tolerated_low_confidence, score: 0.07;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP diploid NA NA METABRIC 3 142281504 142281504 A T 3:g.142281504A>T ENST00000350721.4:c.740T>A 1 4/47 SUMMIT - Neratinib Basket Study (Multi-Institute, Nature 2018) 42 Bladder Urothelial Carcinoma E2503K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.125;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.801 Missense_Mutation SNP diploid NA NA NA 3 142176594 142176594 C T 3:g.142176594C>T ENST00000350721.4:c.7507G>A 0.40 263 391 17 45/47 Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) PRAD-01115525-Tumor-SM-A4KNC Prostate Adenocarcinoma L770Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.998 Missense_Mutation SNP diploid Somatic Untested broad.mit.edu 3 142274751 142274751 A T 3:g.142274751A>T ENST00000350721.4:c.2309T>A 0.16 14 72 98 10/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1252 Dedifferentiated Liposarcoma I1233V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.59;SIFT: impact: tolerated, score: 0.14;Polyphen-2: impact: benign, score: 0.007 Missense_Mutation SNP NA NA University of Michigan 3 142257352 142257352 T C 3:g.142257352T>C ENST00000350721.4:c.3697A>G 0.29 23 56 35 62 19/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1269 Breast Invasive Ductal Carcinoma D2063N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.255;SIFT: impact: tolerated, score: 0.35;Polyphen-2: impact: benign, score: 0.022 Missense_Mutation SNP NA NA University of Michigan 3 142204016 142204016 C T 3:g.142204016C>T ENST00000350721.4:c.6187G>A 0.38 67 108 138 347 36/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1271 Breast Invasive Ductal Carcinoma E282K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.145;SIFT: impact: tolerated_low_confidence, score: 0.49;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP NA NA University of Michigan 3 142281400 142281400 C T 3:g.142281400C>T ENST00000350721.4:c.844G>A 0.19 26 109 101 697 4/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1304 Cutaneous Squamous Cell Carcinoma L889V OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.07;Polyphen-2: impact: possibly_damaging, score: 0.782 Missense_Mutation SNP NA NA University of Michigan 3 142272209 142272209 G C 3:g.142272209G>C ENST00000350721.4:c.2665C>G 0.22 35 127 90 1165 13/47 Metastatic Solid Cancers (UMich, Nature 2017) MO_1486 Pancreatic Adenocarcinoma T872K OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.922 Missense_Mutation SNP NA NA University of Michigan 3 142272500 142272500 G T 3:g.142272500G>T ENST00000350721.4:c.2615C>A 0.34 73 144 117 83 12/47 Colon Cancer (CPTAC-2 Prospective, Cell 2019) 11CO007 Colon Adenocarcinoma T1566A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.04;SIFT: impact: tolerated, score: 0.75;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP diploid NA NA NA 3 142231258 142231258 T C 3:g.142231258T>C ENST00000350721.4:c.4696A>G 1920 27/47 Low-Grade Gliomas (UCSF, Science 2014) P24_Rec2 Glioblastoma P445S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: -0.455;SIFT: impact: tolerated_low_confidence, score: 0.64;Polyphen-2: impact: benign, score: 0 Missense_Mutation SNP somatic NA UCSF 3 142280101 142280101 G A 3:g.142280101G>A ENST00000350721.4:c.1333C>T 0.13 24 163 274 1630 5/47 Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) HN_62861 Head and Neck Squamous Cell Carcinoma S1701F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.935;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.986 Missense_Mutation SNP Unknown Unknown broad.mit.edu 3 142224075 142224075 G A 3:g.142224075G>A ENST00000350721.4:c.5102C>T 0.13 40 262 49 29/47 Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) HN_63058 Head and Neck Squamous Cell Carcinoma A248S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.425;SIFT: impact: tolerated_low_confidence, score: 1;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP Unknown Unknown broad.mit.edu 3 142281502 142281502 C A 3:g.142281502C>A ENST00000350721.4:c.742G>T 0.16 13 70 86 4/47 Bladder Urothelial Carcinoma (BGI, Nat Genet 2013) B86 Bladder Urothelial Carcinoma S761F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.32;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.641 Missense_Mutation SNP 1 NA NA BGI 3 142274778 142274778 G A 3:g.142274778G>A ENST00000350721.4:c.2282C>T 325 10/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-02-2466-01 Glioblastoma Multiforme H2437N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.305;SIFT: impact: tolerated, score: 0.34;Polyphen-2: impact: possibly_damaging, score: 0.755 Missense_Mutation SNP diploid 1 . . . 3 142178109 142178109 G T 3:g.142178109G>T ENST00000350721.4:c.7309C>A 0.33 51 104 125 99 43/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-02-2466-01 Glioblastoma Multiforme F2436L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.02;SIFT: impact: tolerated, score: 0.24;Polyphen-2: impact: possibly_damaging, score: 0.905 Missense_Mutation SNP diploid . . . 3 142178110 142178110 A T 3:g.142178110A>T ENST00000350721.4:c.7308T>A 0.33 51 102 125 99 43/47 Glioblastoma Multiforme (TCGA, PanCancer Atlas) TCGA-19-5956-01 Glioblastoma Multiforme V703A OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: probably_damaging, score: 0.978 Missense_Mutation SNP diploid . . . 3 142274952 142274952 A G 3:g.142274952A>G ENST00000350721.4:c.2108T>C 0.09 9 93 96 6908 10/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-8SAG4N Adenoid Cystic Carcinoma K1665Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.125;SIFT: impact: tolerated, score: 0.1;Polyphen-2: impact: possibly_damaging, score: 0.477 Missense_Mutation SNP SOMATIC unknown Foundation 3 142226811 142226811 T G 3:g.142226811T>G ENST00000350721.4:c.4993A>C 0.47 152 171 12 28/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-V2QDEY Adenoid Cystic Breast Cancer D2629E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.69;SIFT: NA;Polyphen-2: NA Missense_Mutation SNP SOMATIC unknown Foundation 3 142168319 142168319 A T 3:g.142168319A>T ENST00000350721.4:c.7887T>A 0.38 195 319 11 47/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-P6679L Adenoid Cystic Carcinoma E471Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: tolerated_low_confidence, score: 0.26;Polyphen-2: impact: possibly_damaging, score: 0.462 Missense_Mutation SNP SOMATIC unknown Foundation 3 142279235 142279235 C G 3:g.142279235C>G ENST00000350721.4:c.1411G>C 0.51 469 450 15 6/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-XJGWDE Adenoid Cystic Carcinoma E471Q OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.935;SIFT: impact: tolerated_low_confidence, score: 0.26;Polyphen-2: impact: possibly_damaging, score: 0.462 Missense_Mutation SNP SOMATIC unknown Foundation 3 142279235 142279235 C G 3:g.142279235C>G ENST00000350721.4:c.1411G>C 0.51 584 562 8 6/47 Adenoid Cystic Carcinoma Project (J Clin Invest 2019) XRN-HWUT0C Adenoid Cystic Carcinoma W1471G OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: possibly_damaging, score: 0.703 Missense_Mutation SNP 1 SOMATIC unknown Foundation 3 142234329 142234329 A C 3:g.142234329A>C ENST00000350721.4:c.4411T>G 0.47 219 246 14 25/47 Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012) 585260 Small Cell Lung Cancer S1325C OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.82;SIFT: impact: deleterious, score: 0.04;Polyphen-2: impact: probably_damaging, score: 0.968 Missense_Mutation SNP 2 NA NA JHU 3 142243014 142243014 T A 3:g.142243014T>A ENST00000350721.4:c.3973A>T 364 22/47 Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012) 2334201 Small Cell Lung Cancer A1793E OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.1;SIFT: impact: tolerated, score: 0.69;Polyphen-2: impact: benign, score: 0.006 Missense_Mutation SNP 2 NA NA JHU 3 142218471 142218471 G T 3:g.142218471G>T ENST00000350721.4:c.5378C>A 173 31/47 Pancreatic Adenocarcinoma (QCMG, Nature 2016) ICGC_0229 Pancreatic Adenocarcinoma N1031S OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: neutral, score: 0.695;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: benign, score: 0.023 Missense_Mutation SNP Somatic NA qcmg.uq.edu.au 3 142268400 142268400 T C 3:g.142268400T>C ENST00000350721.4:c.3092A>G 57 15/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-09-2044-01 Serous Ovarian Cancer V51F OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.7;SIFT: impact: deleterious_low_confidence, score: 0;Polyphen-2: impact: probably_damaging, score: 0.996 Missense_Mutation SNP amp . . . 3 142286905 142286905 C A 3:g.142286905C>A ENST00000350721.4:c.151G>T 0.12 8 59 46 1895 2/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-09-2044-01 Serous Ovarian Cancer R43L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: deleterious_low_confidence, score: 0.03;Polyphen-2: impact: possibly_damaging, score: 0.761 Missense_Mutation SNP amp . . . 3 142286928 142286928 C A 3:g.142286928C>A ENST00000350721.4:c.128G>T 0.11 12 94 60 1895 2/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-23-2643-01 Serous Ovarian Cancer K704N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.59;SIFT: impact: deleterious, score: 0.02;Polyphen-2: impact: possibly_damaging, score: 0.655 Missense_Mutation SNP gain 1 . . . 3 142274948 142274948 C G 3:g.142274948C>G ENST00000350721.4:c.2112G>C 0.17 19 95 147 48 10/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-24-2024-01 Serous Ovarian Cancer H942Y OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.845;SIFT: impact: tolerated, score: 0.09;Polyphen-2: impact: probably_damaging, score: 0.994 Missense_Mutation SNP diploid . . . 3 142269126 142269126 G A 3:g.142269126G>A ENST00000350721.4:c.2824C>T 0.37 70 118 406 96 14/47 Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) TCGA-25-2398-01 Serous Ovarian Cancer F2499L OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: high, score: 3.6;SIFT: impact: deleterious, score: 0;Polyphen-2: impact: possibly_damaging, score: 0.905 Missense_Mutation SNP gain . . . 3 142177806 142177806 G T 3:g.142177806G>T ENST00000350721.4:c.7497C>A 0.09 3 32 87 181 44/47 Prostate Cancer (MSK, Cell Metab 2020) s_C_M8X42T_P002_d Prostate Adenocarcinoma L1506H OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: medium, score: 2.3;SIFT: impact: tolerated, score: 0.46;Polyphen-2: impact: possibly_damaging, score: 0.781 Missense_Mutation SNP diploid SOMATIC NA MSK-IMPACT468 3 142232467 142232467 A T 3:g.142232467A>T ENST00000350721.4:c.4517T>A 0.31 84 191 160 9 26/47 Intrahepatic Cholangiocarcinoma (Shanghai, Nat Commun 2014) ihch_smmu_125 Intrahepatic Cholangiocarcinoma H585N OncoKB: Unknown, level NA;CIViC: NA;MyCancerGenome: not present;CancerHotspot: no;3DHotspot: no MutationAssessor: impact: low, score: 1.61;SIFT: impact: tolerated_low_confidence, score: 0.5;Polyphen-2: impact: benign, score: 0.003 Missense_Mutation SNP Somatic NA http://www.wuxiapptec.com 3 142277598 142277598 G T 3:g.142277598G>T ENST00000350721.4:c.1753C>A 66 8/47