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 TLN1 7094 broad.mit.edu 37 9 35720836 35720836 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr9:35720836G>A ENST00000314888.9 - 11 1532 c.1179C>T c.(1177-1179)gcC>gcT p.A393A TLN1_ENST00000540444.1_Silent_p.A393A NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 393 FERM.|Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGATGTAGCCGGCAATGAGCT 0.507000 32 130 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219878294 219878294 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr2:219878294C>T ENST00000341552.5 - 23 3876 c.3793G>A c.(3793-3795)Ggt>Agt p.G1265S CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1265 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGATCAGTACCGATGAACAGG 0.542000 3 12 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041252 39041252 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr17:39041252G>A ENST00000167588.3 - 1 227 c.186C>T c.(184-186)ggC>ggT p.G62G NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 62 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) ACAGGTCCCCGCCGCCTGTGA 0.577000 4 180 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 44 43 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114541285 114541285 + Missense_Mutation SNP T T G TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chrX:114541285T>G ENST00000371920.3 + 4 865 c.858T>G c.(856-858)gaT>gaG p.D286E LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 286 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CTGAGAGAGATCTCATAAATC 0.418000 4 135 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129812402 129812402 + Missense_Mutation SNP C C A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:129812402C>A ENST00000358825.5 - 7 1116 c.885G>T c.(883-885)gaG>gaT p.E295D PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E295D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 295 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCAGGTTCTGCTCCAGGTGAT 0.473000 4 254 0.150653 0.150653 1 1 0 UNK 85451 broad.mit.edu 37 17 73814838 73814838 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr17:73814838G>A ENST00000293218.3 + 12 1715 c.1715G>A c.(1714-1716)gGc>gAc p.G572D UNK_ENST00000589666.1_Missense_Mutation_p.G496D Q9C0B0 UNK_HUMAN unkempt family zinc finger 496 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCGTCCCCGGCATGAATGCA 0.597000 4 61 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107381181 107381181 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chrX:107381181G>A ENST00000372232.3 + 8 854 c.695G>A c.(694-696)gGc>gAc p.G232D ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000345734.3_Intron NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 232 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity p.G232D(2) endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 CTTCGCCTGGGCATAAACCAA 0.522000 5 295 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2258498 2258498 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr16:2258498C>T ENST00000569417.1 + 8 1100 c.746C>T c.(745-747)aCg>aTg p.T249M MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 249 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 ATCTGGAGGACGTCCAACTTC 0.662000 7 195 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40655853 40655853 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr15:40655853G>A ENST00000267889.3 + 2 234 c.147G>A c.(145-147)gaG>gaA p.E49E NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 49 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGCCCCCTGAGGCAAGCCCAG 0.622000 28 120 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 7 247 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13337514 13337514 + Missense_Mutation SNP G G A rs141855372 byFrequency TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr10:13337514G>A ENST00000396920.3 - 3 574 c.170C>T c.(169-171)gCc>gTc p.A57V PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000263038.4_Missense_Mutation_p.A76V O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 76 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTGAATATCGGCATCAGGTAC 0.353000 5 322 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803702 142803702 + RNA SNP A A T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr1:142803702A>T ENST00000423385.1 - 0 1263 ccatcataacatctgtgttcc 0.338000 4 51 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59284439 59284439 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr5:59284439G>A ENST00000502484.2 - 3 371 c.148C>T c.(148-150)Cct>Tct p.P50S PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S NM_001165899.1 NP_001159371.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 Pro-rich. signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AAGGCGAGAGGGGGAAGCTGA 0.488000 104 186 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31332565 31332565 + Missense_Mutation SNP T T C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr22:31332565T>C ENST00000215862.4 - 18 2847 c.1484A>G c.(1483-1485)cAg>cGg p.Q495R MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.Q557R NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 557 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CTTCTCTTCCTGCGTCTTCAT 0.517000 104 156 0 0 1 0 0 IGLV9-49 0 broad.mit.edu 37 22 22697799 22697799 + RNA SNP A A C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr22:22697799A>C ENST00000427632.2 + 0 124 CACCTTCTGCATCAGCCTCCC 0.597000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 65 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271878 36271878 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr19:36271878C>T ENST00000007510.4 + 11 1030 c.886C>T c.(886-888)Cgc>Tgc p.R296C ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C O14559 RHG33_HUMAN Rho GTPase activating protein 33 296 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CATGCGCTCCCGCCCTTCTCG 0.667000 4 93 0 0 1 0 0 FOLR4 390243 broad.mit.edu 37 11 94038918 94038918 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:94038918C>T ENST00000440961.2 + 1 160 c.116C>T c.(115-117)cCa>cTa p.P39L NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 39 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 GTGCCCAGCCCAGAAGACAAG 0.567000 32 33 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176258 140176258 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr5:140176258C>T ENST00000526136.1 + 1 1709 c.1709C>T c.(1708-1710)gCt>gTt p.A570V PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCTAGGGCTGGCACCGCT 0.697000 5 191 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24918463 24918463 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr16:24918463G>A ENST00000347898.3 + 12 1854 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 411 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTCCGGCCTCGGGCATCTGAG 0.597000 110 164 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947747 57947747 + Silent SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:57947747C>T ENST00000335397.3 + 3 1147 c.831C>T c.(829-831)taC>taT p.Y277Y NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CTGTGCTTTACACAGAGGTCA 0.468000 53 119 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72968063 72968063 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr8:72968063C>T ENST00000262209.4 - 11 1429 c.1222G>A c.(1222-1224)Gat>Aat p.D408N RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 408 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTGTCTTCATCCATTACCAGC 0.368000 49 57 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54945296 54945296 + Missense_Mutation SNP A A T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr20:54945296A>T ENST00000395909.4 - 11 1695 c.1130T>A c.(1129-1131)gTa>gAa p.V377E AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 377 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) GTGTTCAAGTACTTCTCTGAG 0.453000 6 351 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202246 248202246 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr1:248202246G>A ENST00000366479.2 + 1 773 c.677G>A c.(676-678)cGc>cAc p.R226H OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R226L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCTGTCTACCGCATGCACTCT 0.483000 5 352 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94248550 94248550 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr5:94248550G>A ENST00000515393.1 - 9 1481 c.1482C>T c.(1480-1482)taC>taT p.Y494Y MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y|MCTP1_ENST00000312216.8_Silent_p.Y273Y NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 494 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GGAACTTCACGTAGGGATCGC 0.468000 5 234 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30946435 30946435 + Missense_Mutation SNP C C G TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr8:30946435C>G ENST00000298139.5 + 13 1855 c.1606C>G c.(1606-1608)Caa>Gaa p.Q536E NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 536 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CAATGAAGAGCAAGTTACTTG 0.328000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 36 51 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149485858 149485858 + RNA SNP A A G TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr7:149485858A>G ENST00000378016.2 + 0 4077 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGAAGGTCAATGGCATTGTG 0.622000 31 62 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724449 138724449 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr3:138724449C>T ENST00000383163.2 - 1 661 c.662G>A c.(661-663)cGc>cAc p.R221H NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 221 Pro-rich. endometrium(3)|kidney(1)|lung(7) 11 CTCCAGAAGGCGGAATTCCGG 0.682000 21 21 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229676423 229676423 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr1:229676423G>A ENST00000344517.4 - 5 1175 c.1133C>T c.(1132-1134)gCc>gTc p.A378V NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 378 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CACTTTGCTGGCATATTTCTC 0.403000 4 202 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116435002 116435002 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr12:116435002G>A ENST00000281928.3 - 15 2809 c.2603C>T c.(2602-2604)cCa>cTa p.P868L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 868 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CAAAGATGGTGGAGTGGGAAA 0.398000 4 234 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95121241 95121241 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr13:95121241G>A ENST00000377028.5 - 2 767 c.354C>T c.(352-354)tgC>tgT p.C118C DCT_ENST00000446125.1_Silent_p.C118C NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 118 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCTTCCGCTCGCAGTTGGGAC 0.498000 11 390 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187329 123187329 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr12:123187329G>A ENST00000328880.5 - 1 561 c.502C>T c.(502-504)Ccg>Tcg p.P168S HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 168 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) TTCTGGATCGGCATCTTCTTC 0.542000 4 152 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17531148 17531148 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:17531148C>T ENST00000005226.7 - 18 1767 c.1768G>A c.(1768-1770)Gcc>Acc p.A590T USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GAGGATGAGGCGCTCACATGG 0.672000 8 27 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791718 42791718 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr19:42791718C>T ENST00000572681.2 + 6 3399 c.3331C>T c.(3331-3333)Cgg>Tgg p.R1111W CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W Q96RK0 CIC_HUMAN capicua transcriptional repressor 202 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R202W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCACATCCGGCGGCCCATGAA 0.622000 """Mis, F, S""" oligodendroglioma 41 30 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc 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) 55 118 0 0 1 0 0 C1orf101 257044 broad.mit.edu 37 1 244756809 244756809 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr1:244756809G>A ENST00000366534.4 + 17 2286 c.2232G>A c.(2230-2232)agG>agA p.R744R C1orf101_ENST00000366533.4_Silent_p.R744R|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.R593R NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 744 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) AGAGAGTAAGGTATATTTGGG 0.348000 67 98 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6452914 6452914 + Silent SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:6452914C>T ENST00000265983.3 - 9 1186 c.1086G>A c.(1084-1086)gcG>gcA p.A362A NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 362 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) AGATAAAGGCCGCATCCACAG 0.557000 80 108 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr20:1902292G>A ENST00000358771.4 + 3 840 c.688G>A c.(688-690)Gtg>Atg p.V230M SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 230 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V230M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612000 4 121 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37414310 37414310 + Missense_Mutation SNP G G T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr22:37414310G>T ENST00000403892.3 - 1 1198 c.464C>A c.(463-465)gCc>gAc p.A155D TST_ENST00000249042.3_Missense_Mutation_p.A155D NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 155 Hinge. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 GTCCAGTGTGGCTTTGAAGAC 0.597000 25 52 2.48779e-11 2.57826e-11 1 1 0 RP11-783K16.14 0 broad.mit.edu 37 11 63997583 63997583 + RNA SNP A A C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr11:63997583A>C ENST00000534988.1 - 0 99 AAAAAAAAAAACCCGCCCAGC 0.532000 4 3 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154293680 154293680 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr1:154293680C>T ENST00000484864.1 + 1 85 c.49C>T c.(49-51)Cgc>Tgc p.R17C AQP10_ENST00000324978.3_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 17 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTCCGGATACGCAGCCTCCT 0.567000 34 106 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515463 195515463 + Silent SNP G G A TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr3:195515463G>A ENST00000463781.3 - 2 3447 c.2988C>T c.(2986-2988)acC>acT p.T996T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1001 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T996T(1) 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) AGGAAGCATCGGTGACATGAA 0.582000 4 26 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143928001 143928001 + Silent SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr8:143928001C>T ENST00000220940.1 + 4 462 c.372C>T c.(370-372)ccC>ccT p.P124P NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 124 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane p.P124P(1) NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACATGTTACCCGATGAAGTAA 0.418000 5 218 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64892881 64892881 + Missense_Mutation SNP T T C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr5:64892881T>C ENST00000231524.9 - 8 1677 c.1306A>G c.(1306-1308)Att>Gtt p.I436V TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V|TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 436 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TACTTACCAATTGTTGGAATG 0.388000 70 185 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52860815 52860815 + Frame_Shift_Del DEL G G - TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr3:52860815delG ENST00000266041.4 - 4 607 c.511delC c.(511-513)acfs p.H171fs ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 171 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACCTGCAGGTGCTTGACCAGC 0.622 41 69 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74227325 74227325 + RNA DEL C C - rs146363494 TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr5:74227325delC ENST00000505200.1 - 0 335 cagagaattgcttgaacccag 0.463 2 4 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26428451 26428451 + RNA DEL A A - rs139821417 TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr6:26428451delA ENST00000466808.2 + 0 1304 gtgtctaattaaaaaaaaaaa 0.448 2 4 --- --- --- --- FGFBP3 143282 broad.mit.edu 37 10 93668353 93668353 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr10:93668353delT ENST00000311575.5 - 2 537 c.374delA c.(373-375)ccfs p.H125fs NM_152429.4 NP_689642.3 Q8TAT2 FGFP3_HUMAN fibroblast growth factor binding protein 3 125 positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability extracellular region fibroblast growth factor binding|heparin binding large_intestine(1)|prostate(1) 2 Colorectal(252;0.162) CGCGGGGTCGTGACAGGGCCT 0.761 2 4 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 3 5 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1cf5c481-732a-40a6-a557-2c2a837d7ed9 a291b686-5cc5-4e06-82fe-27e38cd997dc g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 8 172 --- --- --- ---