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 REL 5966 broad.mit.edu 37 2 61149057 61149057 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:61149057C>T ENST00000295025.7 + 11 1567 c.1247C>T c.(1246-1248)gCc>gTc p.A416V REL_ENST00000394479.3_Missense_Mutation_p.A384V NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 416 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TCATCAGTGGCCCACCCCACC 0.502000 A Hodgkin Lymphoma 10 79 0 0 0.001368 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055726 40055726 + Missense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr22:40055726G>A ENST00000336649.4 + 17 2491 c.2491G>A c.(2491-2493)Gtc>Atc p.V831I CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.V825I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 825 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGACTGGAACGTCGTTCTCTA 0.572000 7 187 0 0 0.006214 0 0 KRT33A 3883 broad.mit.edu 37 17 39502881 39502881 + Missense_Mutation SNP G G A rs148488457 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:39502881G>A ENST00000007735.3 - 6 960 c.916C>T c.(916-918)Cgc>Tgc p.R306C NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 306 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GAGCTGTAGCGGGCCTCGCTC 0.587000 6 83 0 0 0.001984 0 0 AGPAT3 56894 broad.mit.edu 37 21 45379705 45379705 + Missense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr21:45379705G>A ENST00000398063.2 + 2 635 c.143G>A c.(142-144)cGc>cAc p.R48H AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 48 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CTCTACCGCCGCCTCAACTGC 0.667000 5 34 0 0 0.000602 0 0 DLGAP4 22839 broad.mit.edu 37 20 35152721 35152721 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr20:35152721C>T ENST00000373913.3 + 11 3052 c.2572C>T c.(2572-2574)Cgg>Tgg p.R858W DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R861W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 861 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCAGCAGTTCCGGGGCCTCTG 0.532000 5 76 0 0 0.001168 0 0 LTA 4049 broad.mit.edu 37 6 31541359 31541359 + Silent SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:31541359C>T ENST00000454783.1 + 4 765 c.507C>T c.(505-507)caC>caT p.H169H LTA_ENST00000418386.2_Silent_p.H169H NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 169 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CGATGTACCACGGGGCTGCGT 0.592000 6 235 0 0 0.001168 0 0 AKR1E2 83592 broad.mit.edu 37 10 4884665 4884665 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr10:4884665T>C ENST00000298375.7 + 8 877 c.806T>C c.(805-807)aTc>aCc p.I269T AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 269 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 CCCGGATCTATCACCCCAAGT 0.413000 6 189 0 0 0.004482 0 0 PURG 29942 broad.mit.edu 37 8 30889490 30889490 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr8:30889490T>C ENST00000475541.1 - 1 1741 c.809A>G c.(808-810)gAc>gGc p.D270G PURG_ENST00000339382.2_Missense_Mutation_p.D270G NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 270 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CCTTTTATTGTCCACTCTGAA 0.438000 57 56 0 0 0.003610 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 44 65 0 0 0.003610 0 0 LRP2 4036 broad.mit.edu 37 2 170048452 170048452 + Silent SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:170048452G>A ENST00000263816.3 - 48 9207 c.8922C>T c.(8920-8922)ggC>ggT p.G2974G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2974 LDL-receptor class A 22. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G2974G(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATCCACATCGCCATCACAGA 0.478000 5 113 0 0 0.000602 0 0 ABCB1 5243 broad.mit.edu 37 7 87183089 87183089 + Silent SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr7:87183089T>C ENST00000265724.3 - 10 1404 c.987A>G c.(985-987)ggA>ggG p.G329G ABCB1_ENST00000543898.1_Silent_p.G265G NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 329 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TGAGTACTTGTCCAATAGAAT 0.378000 46 64 0 0 0.003610 0 0 CMIP 80790 broad.mit.edu 37 16 81641214 81641214 + Nonsense_Mutation SNP G G T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr16:81641214G>T ENST00000537098.3 + 2 415 c.343G>T c.(343-345)Gaa>Taa p.E115* CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21* NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 81 PH. cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CAGCGCAATTGAAGACGTTCA 0.463000 10 201 9.70103e-10 1.77205e-09 0.008291 1 0 DSCAM 1826 broad.mit.edu 37 21 41496241 41496241 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr21:41496241C>T ENST00000400454.1 - 20 4054 c.3577G>A c.(3577-3579)Gcg>Acg p.A1193T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1193 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTCACACCCGCGGGAGGACCT 0.597000 61 91 0 0 0.003610 0 0 TAF4B 6875 broad.mit.edu 37 18 23865961 23865961 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr18:23865961C>G ENST00000269142.5 + 7 2086 c.1088C>G c.(1087-1089)aCt>aGt p.T363S TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S|TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 363 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ACAGTAACAACTTCTCCTGTG 0.448000 5 153 0 0 0.000602 0 0 PLAA 9373 broad.mit.edu 37 9 26905915 26905915 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr9:26905915C>T ENST00000397292.3 - 14 2399 c.1982G>A c.(1981-1983)aGg>aAg p.R661K NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 661 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GCAAAAAGTCCTGAGAGCAAG 0.458000 6 62 0 0 0.001168 0 0 KIAA0825 285600 broad.mit.edu 37 5 93856210 93856210 + Missense_Mutation SNP T T G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr5:93856210T>G ENST00000513200.3 - 4 785 c.713A>C c.(712-714)gAt>gCt p.D238A KIAA0825_ENST00000329378.7_Missense_Mutation_p.D238A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D238A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D238A NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 238 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 AGCTATTACATCTAAATTTGA 0.308000 6 72 0 0 0.001984 0 0 PTPRB 0 broad.mit.edu 37 12 70965783 70965783 + Missense_Mutation SNP T T G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr12:70965783T>G ENST00000334414.6 - 12 2971 c.2927A>C c.(2926-2928)gAc>gCc p.D976A PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A|PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000261266.5_Missense_Mutation_p.D758A NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 758 Fibronectin type-III 11. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTGATCAAAGTCTCCAGTGGC 0.413000 9 275 0 0 0.004482 0 0 PHYKPL 85007 broad.mit.edu 37 5 177652385 177652385 + Silent SNP C C A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr5:177652385C>A ENST00000308158.5 - 4 618 c.384G>T c.(382-384)acG>acT p.T128T PHYKPL_ENST00000481811.1_Intron NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase CCTGGTGTCCCGTGTAGTGGC 0.557000 4 80 0.000602214 0.00104435 0.000602 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 93 0 0 0.000248 0 0 ZNF800 168850 broad.mit.edu 37 7 127014981 127014981 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr7:127014981C>G ENST00000393313.1 - 5 1000 c.409G>C c.(409-411)Gaa>Caa p.E137Q ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q Q2TB10 ZN800_HUMAN zinc finger protein 800 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TGATTAGTTTCTATGGGTTCT 0.348000 4 83 0 0 0.000248 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118351397 118351397 + Missense_Mutation SNP G G A rs115887041 by1000genomes TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr10:118351397G>A ENST00000528052.1 + 3 235 c.164G>A c.(163-165)cGc>cAc p.R55H PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 55 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) ATCGGCACCCGCTTCCTGCTG 0.542000 7 200 0 0 0.003080 0 0 CSMD3 114788 broad.mit.edu 37 8 113697870 113697870 + Nonsense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr8:113697870C>T ENST00000297405.5 - 15 2491 c.2247G>A c.(2245-2247)tgG>tgA p.W749* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 749 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGATTATCGTCCAGATGCAAT 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 315 0 0 0.001984 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32571802 32571802 + Missense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr3:32571802G>A ENST00000273130.4 - 10 1262 c.1159C>T c.(1159-1161)Cca>Tca p.P387S DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 387 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 GCAGTTGGTGGTTGCTTTGCT 0.284000 3 33 0 0 0.000248 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44220940 44220940 + Silent SNP T T C rs61753593 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:44220940T>C ENST00000371554.1 + 11 2104 c.1890T>C c.(1888-1890)ccT>ccC p.P630P HSP90AB1_ENST00000371646.5_Silent_p.P630P|HSP90AB1_ENST00000353801.3_Silent_p.P630P P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 630 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGATCAACCCTGACCACCCCA 0.557000 4 223 0 0 0.000602 0 0 UPK3A 7380 broad.mit.edu 37 22 45689091 45689091 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr22:45689091C>T ENST00000216211.4 + 5 633 c.601C>T c.(601-603)Cca>Tca p.P201S UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 201 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGACACGTGGCCAGGCCGGCG 0.632000 5 66 0 0 0.001984 0 0 ASAP1 50807 broad.mit.edu 37 8 131127907 131127907 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr8:131127907C>G ENST00000357668.1 - 22 2166 c.2139G>C c.(2137-2139)gaG>gaC p.E713D ASAP1_ENST00000518721.1_Missense_Mutation_p.E713D Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 713 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TCTCATCTATCTCCTCCTGTC 0.433000 7 946 0 0 0.001168 0 0 ENPP5 59084 broad.mit.edu 37 6 46129357 46129357 + Silent SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:46129357G>A ENST00000371383.2 - 5 1400 c.1140C>T c.(1138-1140)ctC>ctT p.L380L ENPP5_ENST00000230565.3_Silent_p.L380L Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 380 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 TGATATTGAGGAGGTGGCATA 0.443000 24 336 0 0 0.006320 0 0 CTSO 1519 broad.mit.edu 37 4 156847189 156847189 + Nonstop_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:156847189C>G ENST00000433477.3 - 8 1034 c.965G>C c.(964-966)tGa>tCa p.*322S NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 0 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CCCAACATGTCACACAAATAT 0.308000 8 26 0 0 0.004482 0 0 ACO2 50 broad.mit.edu 37 22 41895798 41895798 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr22:41895798C>G ENST00000396512.3 + 2 122 c.105C>G c.(103-105)agC>agG p.S35R ACO2_ENST00000216254.4_Missense_Mutation_p.S35R Q99798 ACON_HUMAN aconitase 2, mitochondrial 35 S -> T (in Ref. 1; AAB38416). citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TGGCGATGAGCCACTTTGAGC 0.517000 5 423 0 0 0.000602 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478489 141478489 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr7:141478489C>G ENST00000247881.2 + 1 248 c.201C>G c.(199-201)atC>atG p.I67M SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 67 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TGAACACCATCTACTTCGTCT 0.443000 19 244 0 0 0.007413 0 0 OR12D2 26529 broad.mit.edu 37 6 29364925 29364925 + Missense_Mutation SNP G G T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:29364925G>T ENST00000383555.2 + 1 510 c.449G>T c.(448-450)gGt>gTt p.G150V OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TGGGTCATTGGTTTTTTCCAT 0.473000 13 147 1.05317e-09 1.89848e-09 0.002450 1 0 TMPRSS2 0 broad.mit.edu 37 21 42845269 42845269 + Silent SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr21:42845269G>A ENST00000398585.3 - 9 1053 c.993C>T c.(991-993)gcC>gcT p.A331A TMPRSS2_ENST00000458356.1_Silent_p.A294A|TMPRSS2_ENST00000332149.5_Silent_p.A294A NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 294 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CGCAGTGGGCGGCTGTCACGA 0.692000 T """ERG, ETV1, ETV4, ETV5""" prostate 6 8 0 0 0.001984 0 0 VIL1 7429 broad.mit.edu 37 2 219299321 219299321 + Missense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:219299321G>A ENST00000248444.5 + 14 1661 c.1573G>A c.(1573-1575)Gcc>Acc p.A525T VIL1_ENST00000392114.2_Missense_Mutation_p.A214T NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 525 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGAACTGGCGCCAACAACAC 0.572000 64 74 0 0 0.003610 0 0 ASTN1 460 broad.mit.edu 37 1 176934329 176934329 + Missense_Mutation SNP A A C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:176934329A>C ENST00000367654.2 - 9 1605 c.1592T>G c.(1591-1593)tTg>tGg p.L531W ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 531 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGCTCTCCCAAAACCAGGTC 0.423000 3 161 0 0 0.000248 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172586272 172586272 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:172586272T>C ENST00000534253.2 + 15 1613 c.1445T>C c.(1444-1446)aTc>aCc p.I482T DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.I482T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 482 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) ATCACTGGCATCCATTGTCAT 0.398000 10 129 0 0 0.008291 0 0 TGFB2 7042 broad.mit.edu 37 1 218609384 218609384 + Missense_Mutation SNP G G T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:218609384G>T ENST00000366929.4 + 6 1378 c.911G>T c.(910-912)gGg>gTg p.G304V TGFB2_ENST00000366930.4_Missense_Mutation_p.G276V|TGFB2_ENST00000479322.1_3'UTR NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 276 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AAAAACAGTGGGAAGACCCCA 0.448000 5 98 1.23904e-05 2.17626e-05 0.000602 1 0 HRNR 388697 broad.mit.edu 37 1 152192979 152192979 + Nonsense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:152192979G>A ENST00000368801.2 - 3 1201 c.1126C>T c.(1126-1128)Caa>Taa p.Q376* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 376 Q -> R (in dbSNP:rs6587649). keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCATGTTGTCCCTGGCTA 0.557000 7 208 0 0 0.001984 0 0 PRKCA 5578 broad.mit.edu 37 17 64734916 64734916 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:64734916G>C ENST00000413366.3 + 11 1291 c.1265G>C c.(1264-1266)gGt>gCt p.G422A NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 422 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TATGTCAACGGTGGGGACCTC 0.453000 3 110 0 0 0.000248 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835109 27835109 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:27835109T>C ENST00000331442.3 - 1 250 c.199A>G c.(199-201)Aag>Gag p.K67E NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 67 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCTAAGGCCTTCTTAAGGGCT 0.582000 6 218 0 0 0.001984 0 0 PTPN14 5784 broad.mit.edu 37 1 214625279 214625279 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:214625279C>G ENST00000366956.5 - 3 407 c.213G>C c.(211-213)caG>caC p.Q71H PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 71 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ATCGTGCTTGCTGGCTCTTGC 0.458000 8 120 0 0 0.008291 0 0 KIF16B 55614 broad.mit.edu 37 20 16360692 16360692 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr20:16360692C>T ENST00000354981.2 - 19 2112 c.1955G>A c.(1954-1956)cGc>cAc p.R652H KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 652 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTCCTGCTTGCGAATCTGGAG 0.522000 11 181 0 0 0.000978 0 0 SPEN 23013 broad.mit.edu 37 1 16258985 16258985 + Missense_Mutation SNP A A G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:16258985A>G ENST00000375759.3 + 11 6454 c.6250A>G c.(6250-6252)Agg>Ggg p.R2084G NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2084 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCGAAACTCCAGGTTAGCAGT 0.512000 4 206 0 0 0.000602 0 0 NDUFS1 4719 broad.mit.edu 37 2 206991481 206991481 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:206991481C>G ENST00000233190.5 - 17 2238 c.1972G>C c.(1972-1974)Gat>Cat p.D658H NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 658 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) CCTTCAATATCATCATATCGA 0.393000 16 161 0 0 0.004990 0 0 KRT33B 3884 broad.mit.edu 37 17 39520186 39520186 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:39520186C>T ENST00000251646.3 - 7 1166 c.1117G>A c.(1117-1119)Gcc>Acc p.A373T NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 373 Tail. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TTGGTGGTGGCGCAGGGGTTG 0.522000 8 113 0 0 0.003080 0 0 IKZF1 10320 broad.mit.edu 37 7 50444275 50444275 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr7:50444275C>T ENST00000331340.3 + 4 360 c.205C>T c.(205-207)Cgt>Tgt p.R69C IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 69 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AGAGAATGGGCGTGCCTGTGA 0.458000 """D,T""" BCL6 """ALL, DLBCL""" 6 173 0 0 0.001168 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547124 37547124 + Missense_Mutation SNP G G A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr20:37547124G>A ENST00000299824.1 + 11 1708 c.1519G>A c.(1519-1521)Gcc>Acc p.A507T PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 507 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAGCAGCATGGCCAGGACGGG 0.612000 5 68 0 0 0.000602 0 0 MAB21L2 10586 broad.mit.edu 37 4 151505024 151505024 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:151505024G>C ENST00000317605.4 + 1 1948 c.843G>C c.(841-843)gaG>gaC p.E281D LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 281 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TGCTGTACGAGTGCGAGAAAC 0.627000 7 58 0 0 0.006214 0 0 DEFB118 117285 broad.mit.edu 37 20 29956513 29956513 + Splice_Site SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr20:29956513T>C ENST00000253381.2 + 1 91 c.e1+2 NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGATCCCAGGTAATCAGAGGT 0.502000 4 180 0 0 0.000248 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 26 55 0 0 0.005443 0 0 FSIP2 401024 broad.mit.edu 37 2 186670207 186670207 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:186670207T>C ENST00000343098.5 + 17 16441 c.16441T>C c.(16441-16443)Ttc>Ctc p.F5481L FSIP2_ENST00000424728.1_Missense_Mutation_p.F5392L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AATATCTGCATTCAGGATTCA 0.378000 5 125 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113697824 113697824 + Missense_Mutation SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr8:113697824C>G ENST00000297405.5 - 15 2537 c.2293G>C c.(2293-2295)Gac>Cac p.D765H CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 765 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGGTCAAAGTCATTGAAAGAA 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 312 0 0 0.003080 0 0 TAF7L 54457 broad.mit.edu 37 X 100530268 100530268 + Splice_Site SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chrX:100530268T>C ENST00000372907.3 - 12 1297 c.1284_splice c.e12-1 p.N429_splice TAF7L_ENST00000356784.1_Splice_Site_p.N343_splice|TAF7L_ENST00000324762.6_Splice_Site_p.N269_splice|TAF7L_ENST00000372905.2_Splice_Site_p.N269_splice NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 429 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CTGAAAATGATTCTGAAAAAT 0.303000 3 95 0 0 0.000248 0 0 USH2A 7399 broad.mit.edu 37 1 215847818 215847818 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:215847818G>C ENST00000366943.2 - 63 13821 c.13435C>G c.(13435-13437)Ctt>Gtt p.L4479V USH2A_ENST00000307340.3_Missense_Mutation_p.L4479V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4479 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCCTCCTAAGTTCATAACTT 0.448000 HNSCC(13;0.011) 6 296 0 0 0.001168 0 0 GEMIN5 25929 broad.mit.edu 37 5 154307077 154307077 + Silent SNP A A G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr5:154307077A>G ENST00000285873.7 - 7 1023 c.948T>C c.(946-948)tcT>tcC p.S316S NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 316 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCCGTCTCCAAGATTGAGTGA 0.383000 3 55 0 0 0.000248 0 0 BTNL2 56244 broad.mit.edu 37 6 32370727 32370727 + Missense_Mutation SNP C C T rs79379254 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:32370727C>T ENST00000454136.3 - 3 698 c.694G>A c.(694-696)Gtc>Atc p.V232I BTNL2_ENST00000374993.1_Missense_Mutation_p.V232I|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 232 Ig-like V-type 2. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 AGGCTGATGACCGACCCCTTC 0.582000 23 22 0 0 0.002299 0 0 LRRC16A 55604 broad.mit.edu 37 6 25606448 25606448 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:25606448G>C ENST00000329474.6 + 35 4162 c.3794G>C c.(3793-3795)aGt>aCt p.S1265T NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1265 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCAAACCCAGTCTGGCAGCA 0.592000 8 23 0 0 0.004482 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785210 149785210 + Silent SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:149785210G>C ENST00000331491.1 - 1 26 c.27C>G c.(25-27)cgC>cgG p.R9R NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 9 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 CGGTCGACTTGCGGGCAGTCT 0.602000 4 95 0 0 0.001168 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660239 77660239 + Missense_Mutation SNP C C T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:77660239C>T ENST00000296043.6 + 5 1866 c.913C>T c.(913-915)Cgc>Tgc p.R305C NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 305 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGCAGATATTCGCTATGTCAA 0.577000 6 142 0 0 0.003080 0 0 DNAH5 1767 broad.mit.edu 37 5 13769245 13769245 + Splice_Site SNP C C G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr5:13769245C>G ENST00000265104.4 - 58 9825 c.9720_splice c.e58-1 p.V3241_splice DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3241 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTTTAAGACCTAATTCAAT 0.413000 Kartagener syndrome 68 220 0 0 0.003610 0 0 PALLD 23022 broad.mit.edu 37 4 169432972 169432972 + Missense_Mutation SNP C C A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:169432972C>A ENST00000261509.6 + 2 528 c.317C>A c.(316-318)gCa>gAa p.A106E PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A106E NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 106 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CAGCCTCTGGCAGAGAAACAA 0.527000 Pancreatic Cancer, Familial Clustering of 3 37 0.004672 0.0080008 0.004672 1 0 OR2AG1 144125 broad.mit.edu 37 11 6806340 6806340 + Silent SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr11:6806340T>C ENST00000307401.4 + 1 93 c.72T>C c.(70-72)ccT>ccC p.P24P NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGGGTCTCCTGAACTGCTCT 0.498000 8 201 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578467 7578467 + Missense_Mutation SNP T T G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:7578467T>G ENST00000420246.2 - 5 595 c.463A>C c.(463-465)Acc>Ccc p.T155P TP53_ENST00000269305.4_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 155 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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) CGGACGCGGGTGCCGGGCGGG 0.612000 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) 42 40 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9058537 9058537 + Missense_Mutation SNP A A G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr19:9058537A>G ENST00000397910.4 - 3 29112 c.28909T>C c.(28909-28911)Tca>Cca p.S9637P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9639 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTCTAGTGACATTGTGGAC 0.498000 4 96 0 0 0.000248 0 0 HSPD1 3329 broad.mit.edu 37 2 198361940 198361940 + Silent SNP A A G TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:198361940A>G ENST00000388968.3 - 3 618 c.351T>C c.(349-351)acT>acC p.T117T HSPD1_ENST00000345042.2_Silent_p.T117T|HSPD1_ENST00000544407.1_Silent_p.T117T NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 117 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) GTGCCAGTACAGTAGCAGTGG 0.423000 4 131 0 0 0.000248 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 169 0 0 0.004672 0 0 NBEAL1 65065 broad.mit.edu 37 2 204003429 204003429 + Missense_Mutation SNP G G C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr2:204003429G>C ENST00000449802.1 + 30 5052 c.4719G>C c.(4717-4719)caG>caC p.Q1573H NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1573 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTCAAATTCAGATCCAGTTGC 0.373000 22 210 0 0 0.003330 0 0 GPR116 221395 broad.mit.edu 37 6 46834708 46834708 + Silent SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:46834708T>C ENST00000283296.7 - 13 2076 c.1788A>G c.(1786-1788)ggA>ggG p.G596G GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000265417.7_Silent_p.G596G|GPR116_ENST00000362015.4_Silent_p.G596G|GPR116_ENST00000545669.1_Silent_p.G25G NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 596 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTTTGTAGTCTCCATCCTCCT 0.448000 3 88 0 0 0.004672 0 0 TIMM21 29090 broad.mit.edu 37 18 71816117 71816117 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr18:71816117T>C ENST00000580087.1 + 1 360 c.74T>C c.(73-75)tTg>tCg p.L25S TIMM21_ENST00000169551.6_Missense_Mutation_p.L25S Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 25 protein transport|transmembrane transport integral to membrane|mitochondrial membrane CGATTGCTTTTGCCATACATC 0.458000 11 309 0 0 0.008291 0 0 DCC 1630 broad.mit.edu 37 18 51025871 51025871 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr18:51025871T>C ENST00000442544.2 + 27 4718 c.4102T>C c.(4102-4104)Tct>Cct p.S1368P DCC_ENST00000581580.1_Missense_Mutation_p.S1001P|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1368 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ACCACTTTTGTCTCAGCCAGG 0.443000 80 109 0 0 0.003610 0 0 ANKHD1 54882 broad.mit.edu 37 5 139866584 139866584 + Silent SNP T T A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr5:139866584T>A ENST00000297183.6 + 14 2308 c.2184T>A c.(2182-2184)ccT>ccA p.P728P ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P|ANKHD1_ENST00000360839.2_Silent_p.P728P NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTTGTACCTCCCCAGGAAC 0.403000 4 63 0 0 0.000602 0 0 CLIC1 1192 broad.mit.edu 37 6 31698750 31698750 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr6:31698750T>C ENST00000375780.2 - 7 1167 c.595A>G c.(595-597)Atc>Gtc p.I199V CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V O00299 CLIC1_HUMAN chloride intracellular channel 1 199 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GCCTCGGGGATGGTGAATCCC 0.582000 20 35 0 0 0.007413 0 0 CD163 9332 broad.mit.edu 37 12 7649700 7649700 + Missense_Mutation SNP C C A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr12:7649700C>A ENST00000359156.4 - 5 1010 c.808G>T c.(808-810)Gat>Tat p.D270Y CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y|CD163_ENST00000432237.2_Missense_Mutation_p.D270Y NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 270 SRCR 3. Cleavage; in calcium-free condition. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTGACTCCATCTACCAGTCTC 0.468000 7 141 5.18039e-06 9.21706e-06 0.003080 1 0 OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 3 5 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 3 4 --- --- --- --- TAPT1-AS1 0 broad.mit.edu 37 4 16257860 16257860 + RNA DEL T T - rs146274448 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:16257860delT ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA NR_027696.1 AGGGTTTGTCTTTTTTTTTTT 0.383 3 6 --- --- --- --- C4orf40 401137 broad.mit.edu 37 4 71024317 71024318 + Frame_Shift_Ins INS - - T rs148239542 TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr4:71024317_71024318insT ENST00000344526.5 + 3 537_538 c.348_349insT c.(346-351)agttttfs p.SF116fs C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.SF116fs NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 116 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTCCTTCAAGGTTTTTTTCAGC 0.550 8 378 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113326251 113326252 + Frame_Shift_Ins INS - - A TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr8:113326251_113326252insA ENST00000297405.5 - 49 7823_7824 c.7579_7580insT c.(7579-7581)cctfs p.P2527fs CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.P2457fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.P2487fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.P2423fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2527 CUB 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCCACTGAGGGAAATAAGCACT 0.317 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 259 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 5 8 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 180 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76919037 76919038 + Frame_Shift_Ins INS - - T TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b1a392f-8886-4946-8f84-1f4e5d5be873 97f96259-12a3-4d78-8f41-9770ef96748f g.chrX:76919037_76919038insT ENST00000373344.5 - 12 4167_4168 c.3953_3954insA c.(3952-3954)acafs p.T1318fs ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1280fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1318 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATTGACTTGATTTTTTGCTTC 0.351 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 21 3 --- --- --- ---