Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SLC36A1 206358 broad.mit.edu 37 5 150867642 150867642 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr5:150867642G>A ENST00000243389.3 + 11 1481 c.1258G>A c.(1258-1260)Gag>Aag p.E420K SLC36A1_ENST00000520701.1_Missense_Mutation_p.E420K NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 420 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) ACCGCTCCTGGAGGTCACCAC 0.627000 4 38 0 0 0.00024832 0 0 MYL1 4632 broad.mit.edu 37 2 211179749 211179749 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:211179749G>A ENST00000352451.3 - 1 165 c.18C>T c.(16-18)gaC>gaT p.D6D NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 6 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GTTTCTTCACGTCTTTCTTTG 0.507000 29 234 0 0 0.0024448 0 0 AKT3 10000 broad.mit.edu 37 1 243736284 243736284 + Missense_Mutation SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:243736284T>C ENST00000366539.1 - 9 963 c.763A>G c.(763-765)Att>Gtt p.I255V AKT3_ENST00000336199.5_Missense_Mutation_p.I255V|AKT3_ENST00000263826.5_Missense_Mutation_p.I255V|AKT3_ENST00000366540.1_Missense_Mutation_p.I255V Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 255 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GCAGAGACAATTTCTGCACCA 0.413000 12 40 0 0 0.00400662 0 0 VIP 7432 broad.mit.edu 37 6 153073384 153073384 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:153073384G>A ENST00000367244.3 + 2 244 c.72G>A c.(70-72)tcG>tcA p.S24S VIP_ENST00000367243.3_Silent_p.S24S NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 24 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) CACAGACTTCGGCATGGCCTC 0.463000 8 44 0 0 0.000442599 0 0 JPH3 57338 broad.mit.edu 37 16 87678468 87678468 + Silent SNP G G A rs150628659 TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr16:87678468G>A ENST00000284262.2 + 2 1229 c.987G>A c.(985-987)ccG>ccA p.P329P NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 329 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGACCTTCCCGGACGGCACCA 0.662000 5 60 0 0 0.000602214 0 0 MUC4 4585 broad.mit.edu 37 3 195517442 195517442 + Missense_Mutation SNP G G C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr3:195517442G>C ENST00000463781.3 - 2 1468 c.1009C>G c.(1009-1011)Caa>Gaa p.Q337E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q337E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 342 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGTTGATTTGAGATACTCTG 0.458000 17 215 0 0 0.00074312 0 0 COASY 80347 broad.mit.edu 37 17 40714773 40714773 + Missense_Mutation SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr17:40714773A>G ENST00000393818.2 + 1 589 c.133A>G c.(133-135)Atg>Gtg p.M45V COASY_ENST00000590958.1_Missense_Mutation_p.M74V|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.M45V|COASY_ENST00000421097.2_Missense_Mutation_p.M45V NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 45 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GCAGCCGGGCATGAGCCTGGA 0.662000 5 86 0 0 0.000602214 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098566 220098566 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:220098566G>A ENST00000323348.5 + 8 1123 c.949G>A c.(949-951)Ggg>Agg p.G317R ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107R|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317R NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 317 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGCAAAGGGGGGATCCCCG 0.597000 7 60 0 0 0.00198382 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315782 30315782 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr10:30315782G>A ENST00000375377.1 - 3 3396 c.3295C>T c.(3295-3297)Ctc>Ttc p.L1099F NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1099 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCCGGCAGGAGGGACTCCACC 0.627000 9 105 0 0 0.000442599 0 0 SPRYD3 84926 broad.mit.edu 37 12 53471030 53471030 + Missense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr12:53471030G>T ENST00000301463.4 - 2 125 c.39C>A c.(37-39)aaC>aaA p.N13K SPRYD3_ENST00000547837.1_Missense_Mutation_p.N50K NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 13 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CATCCATCTTGTTCATGAGAA 0.547000 7 26 1.06961e-07 5.62884e-07 0.00307968 1 0 KCNH1 3756 broad.mit.edu 37 1 210857106 210857106 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:210857106G>A ENST00000367007.4 - 11 2575 c.2406C>T c.(2404-2406)ggC>ggT p.G802G KCNH1_ENST00000271751.4_Silent_p.G829G NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 829 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGCACAATCGCCCCCGCCCC 0.642000 13 89 0 0 0.00185496 0 0 P2RX1 5023 broad.mit.edu 37 17 3819509 3819509 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr17:3819509C>T ENST00000225538.3 - 1 285 c.11G>A c.(10-12)cGg>cAg p.R4Q NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 4 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CTCCTGGAACCGCCGTGCCAT 0.642000 17 108 0 0 0.000958276 0 0 SFI1 9814 broad.mit.edu 37 22 32007798 32007798 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr22:32007798G>A ENST00000432498.1 + 23 2762 c.2369G>A c.(2368-2370)cGg>cAg p.R790Q SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 821 G2/M transition of mitotic cell cycle centriole|cytosol p.R821Q(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGACTCAGCCGGACCTGCTTC 0.617000 5 39 0 0 0.000602214 0 0 ABCC1 4363 broad.mit.edu 37 16 16205306 16205306 + Silent SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr16:16205306C>T ENST00000399408.2 + 23 3151 c.2976C>T c.(2974-2976)ttC>ttT p.F992F ABCC1_ENST00000349029.5_Silent_p.F867F|ABCC1_ENST00000345148.5_Silent_p.F982F|ABCC1_ENST00000399410.3_Silent_p.F982F|ABCC1_ENST00000346370.5_Silent_p.F926F|ABCC1_ENST00000351154.5_Silent_p.F923F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 982 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTTCCTTTTCATGTGTAACC 0.537000 13 135 0 0 0.00136819 0 0 ZNF30 90075 broad.mit.edu 37 19 35435248 35435248 + Nonsense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr19:35435248G>T ENST00000439785.1 + 5 1825 c.1381G>T c.(1381-1383)Gaa>Taa p.E461* ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E379*|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E461*|ZNF30_ENST00000601142.1_Nonsense_Mutation_p.E460* NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TGAGTGTAAGGAATGTGGCAA 0.428000 7 41 2.7689e-08 1.47558e-07 0.00198382 1 0 RPLP0P6 220717 broad.mit.edu 37 2 38709227 38709227 + RNA SNP C C G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:38709227C>G ENST00000417039.1 - 0 696 GGAGAAACTGCTGCCTCATAT 0.577000 7 57 0 0 0.00307968 0 0 RUSC2 9853 broad.mit.edu 37 9 35555624 35555624 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr9:35555624G>A ENST00000455600.1 + 3 3151 c.2582G>A c.(2581-2583)cGa>cAa p.R861Q NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 861 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GGCTCCTGGCGATCTGGCCTC 0.637000 6 50 0 0 0.00307968 0 0 EEF1E1 9521 broad.mit.edu 37 6 8080226 8080226 + Missense_Mutation SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:8080226T>C ENST00000379715.5 - 4 478 c.422A>G c.(421-423)aAt>aGt p.N141S EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 141 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) GCGAGACACATTAAGATATTT 0.368000 3 70 0 0 6.4e-05 0 0 C10orf54 64115 broad.mit.edu 37 10 73521632 73521632 + Silent SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr10:73521632G>T ENST00000394957.3 - 2 292 c.234C>A c.(232-234)ggC>ggA p.G78G CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 78 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TCTGCACCTCGCCCCTCGAGC 0.647000 5 47 0.000602214 0.00301824 0.000602214 1 0 AXIN2 8313 broad.mit.edu 37 17 63537655 63537655 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr17:63537655C>T ENST00000307078.5 - 4 1290 c.977G>A c.(976-978)cGt>cAt p.R326H AXIN2_ENST00000375702.5_Missense_Mutation_p.R326H|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 326 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 ACTGCCCACACGATAAGGAGG 0.478000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 11 85 0 0 0.000978159 0 0 NRIP1 8204 broad.mit.edu 37 21 16339480 16339480 + Missense_Mutation SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr21:16339480A>G ENST00000400202.1 - 3 1746 c.1034T>C c.(1033-1035)gTg>gCg p.V345A NRIP1_ENST00000318948.4_Missense_Mutation_p.V345A|NRIP1_ENST00000400199.1_Missense_Mutation_p.V345A P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 345 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ATTTTGAAACACTGTAGCACT 0.393000 12 73 0 0 0.00136819 0 0 XPO7 23039 broad.mit.edu 37 8 21857170 21857170 + Nonsense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr8:21857170G>T ENST00000434536.1 + 24 2896 c.2794G>T c.(2794-2796)Gga>Tga p.G932* XPO7_ENST00000252512.9_Nonsense_Mutation_p.G923*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.G924* Q9UIA9 XPO7_HUMAN exportin 7 923 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CATTTCTGAAGGACTTACTGC 0.433000 5 45 3.59834e-05 0.000184744 0.00116845 1 0 RAPGEF5 9771 broad.mit.edu 37 7 22190088 22190088 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr7:22190088G>A ENST00000344041.6 - 18 1674 c.1362C>T c.(1360-1362)atC>atT p.I454I RAPGEF5_ENST00000401957.2_Silent_p.I304I NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 304 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity p.I456M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GGGATTTGGAGATGACTAAGT 0.393000 4 90 0 0 0.000602214 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 51 0 0 0.00024832 0 0 INPP5J 27124 broad.mit.edu 37 22 31522415 31522415 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr22:31522415C>T ENST00000331075.5 + 3 1374 c.1325C>T c.(1324-1326)aCa>aTa p.T442I INPP5J_ENST00000405300.1_Missense_Mutation_p.T75I|INPP5J_ENST00000412277.2_Missense_Mutation_p.T375I|INPP5J_ENST00000404390.3_Missense_Mutation_p.T74I|INPP5J_ENST00000400294.2_Missense_Mutation_p.T75I Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 442 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 GACGATGTCACATCCCTCCTC 0.637000 10 141 0 0 0.00136819 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135920601 135920601 + Missense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:135920601G>T ENST00000264158.8 + 22 2579 c.2536G>T c.(2536-2538)Gct>Tct p.A846S ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A802S|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A846S NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 846 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) CATTGCCAGAGCTCGGTCACT 0.423000 11 110 7.03913e-09 3.79932e-08 0.00136819 1 0 SMAD4 4089 broad.mit.edu 37 18 48581281 48581281 + Nonsense_Mutation SNP C C G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr18:48581281C>G ENST00000342988.3 + 5 1123 c.585C>G c.(583-585)taC>taG p.Y195* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Y195*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Y195*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 195 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3)|p.Y195fs*1(1)|p.Y195*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAGAGACATACAGCACCCCAG 0.483000 10 88 0 0 0.000673444 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606763 84606763 + Missense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr9:84606763G>T ENST00000344803.2 + 4 1425 c.1378G>T c.(1378-1380)Gtt>Ttt p.V460F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTCAATTGCTGTTAAGCATGA 0.418000 11 73 3.86212e-05 0.000195898 0.000673444 1 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 50 0 0 0.00307968 0 0 ACACB 32 broad.mit.edu 37 12 109617746 109617746 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr12:109617746G>A ENST00000338432.7 + 11 1791 c.1672G>A c.(1672-1674)Gtg>Atg p.V558M ACACB_ENST00000377854.5_Missense_Mutation_p.V558M|ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 558 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGCCAAGACCGTGGGCTATGT 0.527000 6 53 0 0 0.00307968 0 0 ZNF143 7702 broad.mit.edu 37 11 9500065 9500065 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr11:9500065G>A ENST00000396602.2 + 6 621 c.502G>A c.(502-504)Ggt>Agt p.G168S ZNF143_ENST00000396604.1_Missense_Mutation_p.G167S|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140S|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137S|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167S NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 168 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GACAGTGGCAGGTCTGCACAC 0.493000 8 90 0 0 0.00307968 0 0 ANK3 288 broad.mit.edu 37 10 62023666 62023666 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr10:62023666G>A ENST00000280772.1 - 6 817 c.626C>T c.(625-627)gCg>gTg p.A209V ANK3_ENST00000503366.1_Missense_Mutation_p.A192V|ANK3_ENST00000373827.2_Missense_Mutation_p.A203V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 209 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTCGGGCCGCGATATGAAG 0.552000 12 51 0 0 0.00136819 0 0 LCE2D 353141 broad.mit.edu 37 1 152636834 152636834 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:152636834C>T ENST00000368784.1 + 2 308 c.253C>T c.(253-255)Cgg>Tgg p.R85W NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 85 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACCGGCGCCGGCACCAGAG 0.682000 8 86 0 0 0.000274275 0 0 PIH1D1 55011 broad.mit.edu 37 19 49949860 49949860 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr19:49949860G>A ENST00000262265.5 - 8 1014 c.779C>T c.(778-780)cCg>cTg p.P260L PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260L|PIH1D1_ENST00000602226.1_5'UTR NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 260 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GATCTGCAGCGGGATATAAGC 0.632000 10 101 0 0 0.000673444 0 0 PSME4 23198 broad.mit.edu 37 2 54119989 54119989 + Missense_Mutation SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:54119989T>C ENST00000404125.1 - 36 4202 c.4147A>G c.(4147-4149)Ata>Gta p.I1383V PSME4_ENST00000421748.2_Missense_Mutation_p.I527V NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1383 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AAACCAGCTATAATTTCTGCA 0.383000 4 69 0 0 0.00024832 0 0 GLB1 2720 broad.mit.edu 37 3 33038739 33038739 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr3:33038739G>A ENST00000307363.5 - 16 1976 c.1832C>T c.(1831-1833)tCg>tTg p.S611L GLB1_ENST00000399402.3_Missense_Mutation_p.S581L|GLB1_ENST00000307377.8_Missense_Mutation_p.S480L|GLB1_ENST00000445488.2_Missense_Mutation_p.S659L NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 611 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GTTTGGGGCCGAGGTCATCAG 0.572000 7 66 0 0 0.00307968 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739591 15739591 + RNA SNP C C A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr19:15739591C>A ENST00000441682.2 + 0 1396 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding p.F444F(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTTCCGCTTCGACCCAGAAA 0.602000 10 59 4.84862e-15 2.68588e-14 0.000978159 1 0 LRIF1 55791 broad.mit.edu 37 1 111494604 111494604 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:111494604G>A ENST00000369763.4 - 2 1292 c.902C>T c.(901-903)aCg>aTg p.T301M RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 AAGAGATGGCGTAAAAGGCTG 0.343000 6 66 0 0 0.00198382 0 0 KDM4C 23081 broad.mit.edu 37 9 6893144 6893144 + Missense_Mutation SNP A A T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr9:6893144A>T ENST00000381309.3 + 8 1398 c.833A>T c.(832-834)cAt>cTt p.H278L KDM4C_ENST00000381306.3_Missense_Mutation_p.H278L|KDM4C_ENST00000442236.2_Missense_Mutation_p.H97L|KDM4C_ENST00000543771.1_Missense_Mutation_p.H278L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.H300L|KDM4C_ENST00000536108.1_Missense_Mutation_p.H97L NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 278 JmjC. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 TATGGCTACCATGCTGGTTTT 0.368000 7 80 0 0 0.00198382 0 0 MDN1 23195 broad.mit.edu 37 6 90380712 90380712 + Missense_Mutation SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:90380712A>G ENST00000369393.3 - 83 13997 c.13882T>C c.(13882-13884)Tct>Cct p.S4628P MDN1_ENST00000428876.1_Missense_Mutation_p.S4628P|MDN1_ENST00000468568.1_5'UTR Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4628 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTTGCTAAAGACATGGTCAGG 0.532000 4 81 0 0 0.00024832 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056552 26056552 + Silent SNP C C T rs139532972 byFrequency TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:26056552C>T ENST00000343677.2 - 1 147 c.105G>A c.(103-105)gcG>gcA p.A35A NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 35 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 GGGGACCAGACGCCTTACGAG 0.632000 9 91 0 0 0.000274275 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421950 153421950 + Missense_Mutation SNP A A T rs145631912 byFrequency TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chrX:153421950A>T ENST00000369951.4 + 5 986 c.926A>T c.(925-927)tAc>tTc p.Y309F NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 309 Y -> F (in dbSNP:rs1065441). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCCGGCCTACTTTGCCAAA 0.537000 45 416 0 0 0.00361006 0 0 MLLT4 4301 broad.mit.edu 37 6 168352492 168352492 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:168352492G>A ENST00000366806.2 + 30 4579 c.4437G>A c.(4435-4437)cgG>cgA p.R1479R MLLT4_ENST00000447894.2_Silent_p.R1479R|MLLT4_ENST00000392108.3_Silent_p.R1479R|MLLT4_ENST00000392112.1_Silent_p.R1462R|MLLT4_ENST00000400822.3_Silent_p.R1478R|MLLT4_ENST00000344191.4_Silent_p.R1479R|MLLT4_ENST00000351017.4_Silent_p.R1486R P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1479 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CAGTCATTCGGGAGCTGCAGC 0.577000 T MLL AL 8 81 0 0 0.00307968 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22898587 22898587 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr10:22898587G>A ENST00000376573.4 - 2 432 c.204C>T c.(202-204)gcC>gcT p.A68A PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Silent_p.A9A NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 68 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TTTTTGAATAGGCTTTGAAGT 0.353000 7 53 0 0 0.000673444 0 0 EML5 161436 broad.mit.edu 37 14 89206756 89206756 + Missense_Mutation SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr14:89206756A>G ENST00000554922.1 - 5 934 c.686T>C c.(685-687)aTa>aCa p.I229T EML5_ENST00000352093.5_Missense_Mutation_p.I229T|EML5_ENST00000380664.5_Missense_Mutation_p.I229T NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 229 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TATTGTTCGTATAAGATTGAT 0.363000 5 47 0 0 0.000602214 0 0 LRP4 4038 broad.mit.edu 37 11 46898166 46898166 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr11:46898166G>A ENST00000378623.1 - 25 3629 c.3387C>T c.(3385-3387)ctC>ctT p.L1129L NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1129 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CATCAACCGCGAGCCCATCTG 0.537000 11 85 0 0 0.00136819 0 0 MARCO 8685 broad.mit.edu 37 2 119726797 119726797 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:119726797G>A ENST00000327097.4 + 2 294 c.159G>A c.(157-159)ctG>ctA p.L53L MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 53 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCATCTACCTGATCCTGCTCA 0.597000 9 73 0 0 0.000978159 0 0 PLAGL1 5325 broad.mit.edu 37 6 144263171 144263171 + Missense_Mutation SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:144263171T>C ENST00000360537.2 - 5 2695 c.782A>G c.(781-783)cAt>cGt p.H261R PLAGL1_ENST00000354765.2_Missense_Mutation_p.H261R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000429150.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H261R Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 261 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GGTGAGGCTATGGACCTCAGC 0.612000 OREG0017707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 123 0 0 0.00074312 0 0 CHST6 4166 broad.mit.edu 37 16 75512895 75512895 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr16:75512895G>A ENST00000332272.4 - 3 1011 c.832C>T c.(832-834)Cgg>Tgg p.R278W RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R278W NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 278 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGCGGCTCCCGCGCCAGGTCC 0.667000 6 51 0 0 0.00116845 0 0 PSD 5662 broad.mit.edu 37 10 104164346 104164346 + Silent SNP G G C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr10:104164346G>C ENST00000020673.5 - 15 3220 c.2694C>G c.(2692-2694)ctC>ctG p.L898L PSD_ENST00000406432.1_Silent_p.L898L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 898 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CTACCTGGGAGAGGCGGGTGG 0.612000 3 66 0 0 6.4e-05 0 0 MUSK 4593 broad.mit.edu 37 9 113563104 113563104 + Nonsense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr9:113563104C>T ENST00000416899.2 + 13 2548 c.2422C>T c.(2422-2424)Cga>Tga p.R808* MUSK_ENST00000189978.5_Nonsense_Mutation_p.R816*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.R816* O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 816 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TTACTACGTGCGAGATGGCAA 0.557000 4 34 0 0 0.000602214 0 0 GSTM2 2946 broad.mit.edu 37 1 110211933 110211933 + Missense_Mutation SNP A A G rs2227960 byFrequency TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:110211933A>G ENST00000369831.2 + 4 293 c.199A>G c.(199-201)Act>Gct p.T67A GSTM2_ENST00000460717.3_Missense_Mutation_p.T67A|GSTM2_ENST00000369829.2_Missense_Mutation_p.T67A|GSTM2_ENST00000369827.3_Missense_Mutation_p.T65A|GSTM2_ENST00000442650.1_Missense_Mutation_p.T67A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000241337.4_Missense_Mutation_p.T67A glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) GATTGATGGGACTCACAAGAT 0.572000 23 221 0 0 0.000720815 0 0 FAT1 2195 broad.mit.edu 37 4 187560905 187560905 + Nonsense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr4:187560905G>A ENST00000441802.2 - 4 3822 c.3613C>T c.(3613-3615)Cga>Tga p.R1205* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1205 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCTGTTCTCGGTCTAGCTTC 0.308000 HNSCC(5;0.00058) 12 76 0 0 0.00185496 0 0 LIN28A 79727 broad.mit.edu 37 1 26751932 26751932 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:26751932C>T ENST00000326279.6 + 3 481 c.367C>T c.(367-369)Cgg>Tgg p.R123W LIN28A_ENST00000254231.4_Missense_Mutation_p.R123W NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 123 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GAGTGAGAGGCGGCCAAAAGG 0.522000 9 108 0 0 0.000673444 0 0 YTHDF3 253943 broad.mit.edu 37 8 64099642 64099642 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr8:64099642G>A ENST00000539294.1 + 4 1386 c.1070G>A c.(1069-1071)cGt>cAt p.R357H YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.R168H|YTHDF3_ENST00000517371.1_Intron NM_001277817.1|NM_001277818.1|NM_152758.4 NP_001264746.1|NP_001264747.1|NP_689971.4 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 358 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) GTAGCTCCTCGTAACAGGGGA 0.547000 7 18 0 0 0.00198382 0 0 SMAD4 4089 broad.mit.edu 37 18 48581208 48581208 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr18:48581208C>T ENST00000342988.3 + 5 1050 c.512C>T c.(511-513)tCg>tTg p.S171L SMAD4_ENST00000398417.2_Missense_Mutation_p.S171L|SMAD4_ENST00000588745.1_Missense_Mutation_p.S171L|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 171 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGACAGCCATCGTTGTCCACT 0.403000 5 51 0 0 0.00307968 0 0 PTPN12 5782 broad.mit.edu 37 7 77256908 77256908 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr7:77256908G>A ENST00000248594.6 + 13 2184 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K PTPN12_ENST00000435495.2_Missense_Mutation_p.E508K|PTPN12_ENST00000415482.2_Missense_Mutation_p.E519K NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 638 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CACTAGTACTGAAAGCATTTC 0.388000 4 47 0 0 0.00024832 0 0 CNGA3 1261 broad.mit.edu 37 2 99012949 99012949 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:99012949G>A ENST00000393504.1 + 8 1733 c.1316G>A c.(1315-1317)cGg>cAg p.R439Q CNGA3_ENST00000272602.2_Missense_Mutation_p.R439Q|CNGA3_ENST00000409937.1_Missense_Mutation_p.R443Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.R421Q NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 439 R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature). signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CGGGTTATCCGGTGGTTTGAC 0.542000 4 38 0 0 0.00116845 0 0 TIAM2 26230 broad.mit.edu 37 6 155565824 155565824 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:155565824G>A ENST00000461783.3 + 20 4723 c.3450G>A c.(3448-3450)atG>atA p.M1150I TIAM2_ENST00000529824.2_Missense_Mutation_p.M1150I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M1174I|TIAM2_ENST00000367174.2_Missense_Mutation_p.M526I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M1150I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M1150I|TIAM2_ENST00000528391.2_Missense_Mutation_p.M486I|TIAM2_ENST00000275246.7_Missense_Mutation_p.M75I|TIAM2_ENST00000456877.2_Missense_Mutation_p.M462I Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1150 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGCCAGAGATGCTTGAGTTTC 0.438000 8 104 0 0 0.000274275 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 28 0 0 0.00024832 0 0 SSH1 54434 broad.mit.edu 37 12 109194621 109194621 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr12:109194621G>A ENST00000326495.5 - 12 1176 c.1083C>T c.(1081-1083)taC>taT p.Y361Y SSH1_ENST00000360239.3_Silent_p.Y49Y|SSH1_ENST00000326470.5_Silent_p.Y372Y|SSH1_ENST00000551165.1_Silent_p.Y361Y NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 361 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCTCTTCATCGTAGACTCGGA 0.398000 14 114 0 0 0.000566183 0 0 ATP12A 479 broad.mit.edu 37 13 25265211 25265211 + Silent SNP G G A rs61739266 byFrequency TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr13:25265211G>A ENST00000218548.6 + 8 1242 c.909G>A c.(907-909)acG>acA p.T303T ATP12A_ENST00000381946.3_Silent_p.T297T NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 297 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.T297T(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATGAGAAGACGCCCATTGCCA 0.522000 9 69 0 0 0.000274275 0 0 VPS72 6944 broad.mit.edu 37 1 151156861 151156861 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:151156861C>T ENST00000354473.4 - 4 530 c.494G>A c.(493-495)cGg>cAg p.R165Q VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 165 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTTAGTGGCCGCTCACAGTG 0.537000 12 157 0 0 0.000978159 0 0 IARS 3376 broad.mit.edu 37 9 95004546 95004546 + Missense_Mutation SNP T T A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr9:95004546T>A ENST00000375643.3 - 29 3333 c.3067A>T c.(3067-3069)Aat>Tat p.N1023Y IARS_ENST00000375627.1_Missense_Mutation_p.N76Y|IARS_ENST00000447699.2_Missense_Mutation_p.N913Y|IARS_ENST00000375629.3_Missense_Mutation_p.N76Y|IARS_ENST00000443024.2_Missense_Mutation_p.N1023Y|IARS_ENST00000474340.1_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 1023 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) ATAACACTATTCAGATATGTT 0.368000 7 33 0 0 0.00198382 0 0 HIVEP1 3096 broad.mit.edu 37 6 12161735 12161735 + Missense_Mutation SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr6:12161735A>G ENST00000379388.2 + 8 6883 c.6551A>G c.(6550-6552)gAt>gGt p.D2184G HIVEP1_ENST00000541134.1_Missense_Mutation_p.D49G NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2184 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GATGGCCCAGATGAGGATGAC 0.453000 9 74 0 0 0.000274275 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94539551 94539551 + Silent SNP A A G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr7:94539551A>G ENST00000289495.5 + 1 342 c.126A>G c.(124-126)gaA>gaG p.E42E PPP1R9A_ENST00000424654.1_Silent_p.E42E|PPP1R9A_ENST00000433360.1_Silent_p.E42E|PPP1R9A_ENST00000433881.1_Silent_p.E42E|PPP1R9A_ENST00000456331.2_Silent_p.E42E|PPP1R9A_ENST00000340694.4_Silent_p.E42E NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 42 Actin-binding. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAGATGGGGAACAAAAAACAA 0.453000 HNSCC(28;0.073) 4 32 0 0 0.000602214 0 0 AEBP1 165 broad.mit.edu 37 7 44151908 44151908 + Silent SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr7:44151908G>A ENST00000223357.3 + 17 2510 c.2205G>A c.(2203-2205)tcG>tcA p.S735S AEBP1_ENST00000450684.2_Silent_p.S310S NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 735 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GCTACCTTTCGCCAGATGCCA 0.622000 5 42 0 0 0.000602214 0 0 RPS28 6234 broad.mit.edu 37 19 8386936 8386936 + Missense_Mutation SNP C C G TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr19:8386936C>G ENST00000600659.2 + 3 218 c.187C>G c.(187-189)Cga>Gga p.R63G NM_001031.4 NP_001022.1 P62857 RS28_HUMAN ribosomal protein S28 63 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome GGAGTCAGAGCGAGAAGCCCG 0.592000 3 17 0 0 6.4e-05 0 0 ZNF721 170960 broad.mit.edu 37 4 466365 466365 + Splice_Site SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr4:466365T>C ENST00000511833.2 - 2 226 c.34_splice c.e2+1 p.L11_splice ZNF721_ENST00000506646.1_Splice_Site_p.L43_splice|ZNF721_ENST00000338977.5_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_5'UTR NM_133474.3 NP_597731.2 zinc finger protein 721 p.L11L(1) endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TATCCTCACCTAGGGAGACCA 0.368000 3 78 0 0 0.00024832 0 0 REG4 83998 broad.mit.edu 37 1 120337248 120337248 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:120337248C>T ENST00000354219.1 - 7 909 c.470G>A c.(469-471)cGa>cAa p.R157Q REG4_ENST00000256585.5_Missense_Mutation_p.R157Q|REG4_ENST00000530654.1_3'UTR NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 157 extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) GCTCTATGGTCGGTACTTGCA 0.428000 14 195 0 0 0.00074312 0 0 COL22A1 169044 broad.mit.edu 37 8 139635989 139635989 + Missense_Mutation SNP G G C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr8:139635989G>C ENST00000303045.6 - 52 4203 c.3757C>G c.(3757-3759)Ccc>Gcc p.P1253A COL22A1_ENST00000435777.1_Missense_Mutation_p.P1233A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1253 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCCAGGGGGACCCGGCTTT 0.438000 HNSCC(7;0.00092) 53 171 0 0 0.00361006 0 0 DRD5 1816 broad.mit.edu 37 4 9784380 9784380 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr4:9784380G>A ENST00000304374.2 + 1 1123 c.727G>A c.(727-729)Gtg>Atg p.V243M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 243 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CATCATGATCGTGACCTACAC 0.607000 8 45 0 0 0.00307968 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328670 88328670 + Missense_Mutation SNP C C T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr13:88328670C>T ENST00000325089.6 + 2 1246 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C SLITRK5_ENST00000400028.3_Missense_Mutation_p.R102C NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 343 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCAGGGTGCGCCCCACCTC 0.597000 8 93 0 0 0.00307968 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 30 0 0 0.00307968 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278733 130278733 + Missense_Mutation SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr11:130278733G>T ENST00000257359.6 - 7 2559 c.1853C>A c.(1852-1854)tCc>tAc p.S618Y NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 618 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GTCCCGGGGGGACACCCCAGC 0.562000 14 111 2.32078e-09 1.2689e-08 0.00316338 1 0 PARP8 79668 broad.mit.edu 37 5 50057654 50057654 + Splice_Site SNP G G T TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr5:50057654G>T ENST00000281631.5 + 6 503 c.e6-1 PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ATTATTTTAAGGAATCAAGAC 0.333000 6 62 2.0095e-06 1.04444e-05 0.00198382 1 0 TULP3 7289 broad.mit.edu 37 12 3048518 3048518 + Missense_Mutation SNP G G A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr12:3048518G>A ENST00000448120.2 + 11 1288 c.1237G>A c.(1237-1239)Gtg>Atg p.V413M TULP3_ENST00000397132.2_Missense_Mutation_p.V413M NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 413 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGCAGATGACGTGTTCACACT 0.428000 11 112 0 0 0.000978159 0 0 PKD1 5310 broad.mit.edu 37 16 2153543 2153543 + Missense_Mutation SNP T T C TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr16:2153543T>C ENST00000262304.4 - 23 8723 c.8515A>G c.(8515-8517)Atc>Gtc p.I2839V PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.I2839V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2839 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TAGTTGCTGATATAGCCAAAG 0.612000 7 86 0 0 0.00198382 0 0 PUM1 9698 broad.mit.edu 37 1 31437649 31437650 + Frame_Shift_Ins INS - - A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr1:31437649_31437650insA ENST00000373747.3 - 14 2296_2297 c.2197_2198insT c.(2197-2199)taafs p.*733fs PUM1_ENST00000257075.5_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.*706fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.*490fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.*588fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.*768fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.*673fs NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 732 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AAGGCCGTTATAAAAACTGTGT 0.559 13 147 --- --- --- --- RGPD4 285190 broad.mit.edu 37 2 108488296 108488297 + Frame_Shift_Ins INS - - A TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr2:108488296_108488297insA ENST00000408999.3 + 20 3913_3914 c.3836_3837insA c.(3835-3837)aaafs p.K1279fs RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.K1279fs NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1279 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGCCCTGTGAGAAAAAATCTTT 0.396 32 391 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150921902 150921902 + Frame_Shift_Del DEL T T - TCGA-CQ-6222-01A-11D-1912-08 TCGA-CQ-6222-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2c492f-5cd8-4330-a5de-36f693ec31af 930e8d3f-2ca9-4a88-9397-27e741a23e48 g.chr5:150921902delT ENST00000261800.5 - 9 8798 c.8786delA c.(8785-8787)agfs p.K2929fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2929 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCCAGGGTCTTTAGAGTCGC 0.493 19 182 --- --- --- ---