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 SULT2A1 6822 broad.mit.edu 37 19 48382293 48382293 + Splice_Site SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:48382293C>A ENST00000222002.3 - 4 706 c.567_splice c.e4+1 p.Q189_splice NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 189 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity p.Q189H(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) ATGGGATTACCTGTTTCAGCT 0.463000 68 104 1.15062e-32 2.10595e-32 0.014410 1 0 CNDP2 55748 broad.mit.edu 37 18 72183517 72183517 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:72183517G>T ENST00000324262.4 + 9 1274 c.958G>T c.(958-960)Gaa>Taa p.E320* CNDP2_ENST00000324301.8_Nonsense_Mutation_p.E236*|CNDP2_ENST00000579847.1_Nonsense_Mutation_p.E320* NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 320 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity p.E320*(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCATGGCATCGAAGGCGCCTT 0.572000 29 73 6.00712e-18 9.98684e-18 0.012213 1 0 ALLC 55821 broad.mit.edu 37 2 3749102 3749102 + Splice_Site SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:3749102G>A ENST00000252505.3 + 11 1013 c.850_splice c.e11-1 p.G284_splice ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 303 allantoicase activity p.G284D(1) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GCTCCAACAGGCAATGCTCCT 0.468000 HNSCC(21;0.051) 3 6 0 0 0.004672 0 0 PAX4 5078 broad.mit.edu 37 7 127253552 127253552 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:127253552G>T ENST00000341640.2 - 5 778 c.573C>A c.(571-573)gcC>gcA p.A191A PAX4_ENST00000378740.2_Silent_p.A191A|PAX4_ENST00000338516.3_Silent_p.A199A|PAX4_ENST00000463946.1_Silent_p.A189A NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 199 R -> C. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A191A(1) cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCTTTCCACGGGCCACTGAAT 0.582000 20 35 1.96292e-10 2.64597e-10 0.010504 1 0 ADAP2 55803 broad.mit.edu 37 17 29280311 29280311 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:29280311G>T ENST00000330889.3 + 8 1082 c.747G>T c.(745-747)gtG>gtT p.V249V ADAP2_ENST00000580525.1_Silent_p.V255V NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 249 heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.V249V(1)|p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CCCAGCTCGTGCCATTCCTCA 0.522000 17 28 2.39187e-15 3.64259e-15 0.008871 1 0 GABRQ 55879 broad.mit.edu 37 X 151814000 151814000 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:151814000C>A ENST00000370306.2 + 3 271 c.251C>A c.(250-252)cCt>cAt p.P84H NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 84 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.P84H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTGTGCCTGTGAGAATA 0.448000 28 52 2.46105e-21 4.30684e-21 0.010818 1 0 MCOLN3 55283 broad.mit.edu 37 1 85494886 85494886 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:85494886T>C ENST00000370587.1 - 8 1111 c.735A>G c.(733-735)atA>atG p.I245M WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.I189M|MCOLN3_ENST00000370589.2_Missense_Mutation_p.I245M Q8TDD5 MCLN3_HUMAN mucolipin 3 245 integral to membrane ion channel activity p.I245M(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) TGTCAAATGTTATCTGTGAAG 0.348000 3 47 0 0 0.004672 0 0 ZNF91 7644 broad.mit.edu 37 19 23543380 23543380 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:23543380C>A ENST00000300619.7 - 4 2606 c.2401G>T c.(2401-2403)Gaa>Taa p.E801* ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E769*|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 801 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E801*(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTCACATTTGTAG 0.398000 30 54 9.39395e-14 1.40909e-13 0.006320 1 0 SNTG1 54212 broad.mit.edu 37 8 51621445 51621445 + Splice_Site SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:51621445G>T ENST00000522124.1 + 17 1852 c.e17-1 SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.?(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTCTACCTAGTGCAAGACCT 0.343000 38 56 5.43694e-19 9.24836e-19 0.005524 1 0 SH3D21 79729 broad.mit.edu 37 1 36786292 36786292 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:36786292C>A ENST00000453908.2 + 14 2056 c.2028C>A c.(2026-2028)gtC>gtA p.V676V SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Silent_p.V560V|SH3D21_ENST00000505871.1_Silent_p.V565V|SH3D21_ENST00000312808.4_Silent_p.V322V NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 560 p.V322V(1)|p.V676V(1) endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 CCTCGCTGGTCCCGCAAAACT 0.572000 5 17 0.000602214 0.000661938 0.000602 1 0 OR13A1 79290 broad.mit.edu 37 10 45799491 45799491 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:45799491G>A ENST00000553795.1 - 4 688 c.380C>T c.(379-381)tCc>tTc p.S127F OR13A1_ENST00000374401.2_Missense_Mutation_p.S127F|OR13A1_ENST00000536058.1_Missense_Mutation_p.S127F NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S127F(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 CAGCTCTGAGGATGCAGCCCA 0.602000 3 13 0 0 0.004672 0 0 ACTA1 58 broad.mit.edu 37 1 229568145 229568145 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:229568145T>A ENST00000366684.3 - 4 590 c.488A>T c.(487-489)cAc>cTc p.H163L ACTA1_ENST00000366683.2_Intron NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 163 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton p.H163L(1) endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGGCACGTTGTGGGTGACGCC 0.672000 6 33 0 0 0.001984 0 0 CSAD 51380 broad.mit.edu 37 12 53565130 53565130 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:53565130C>A ENST00000267085.4 - 8 861 c.628G>T c.(628-630)Gcc>Tcc p.A210S CSAD_ENST00000444623.1_Missense_Mutation_p.A183S|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.A183S|CSAD_ENST00000379843.3_Intron NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 183 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity p.A210S(1)|p.A183S(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GTGAATAGGGCCAGGGGCGGC 0.582000 22 56 5.35047e-06 6.31609e-06 0.003330 1 0 CALCRL 10203 broad.mit.edu 37 2 188211044 188211044 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:188211044C>A ENST00000409998.1 - 16 2034 c.1253G>T c.(1252-1254)aGt>aTt p.S418I CALCRL_ENST00000410068.1_Missense_Mutation_p.S418I|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S418I Q16602 CALRL_HUMAN calcitonin receptor-like 418 integral to plasma membrane p.S418I(1) endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GTAAGACGCACTACGAAGAGC 0.368000 12 24 5.50884e-06 6.44582e-06 0.013537 1 0 SF3A1 10291 broad.mit.edu 37 22 30742488 30742488 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr22:30742488G>C ENST00000439242.1 - 3 337 c.206C>G c.(205-207)gCt>gGt p.A69G SF3A1_ENST00000215793.7_Missense_Mutation_p.A69G NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 69 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding p.A69G(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TCGGATCCTAGCTTCAAATTC 0.483000 38 65 0 0 0.007835 0 0 SULF1 23213 broad.mit.edu 37 8 70536413 70536413 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:70536413A>T ENST00000260128.4 + 15 2548 c.1831A>T c.(1831-1833)Act>Tct p.T611S SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T611S|SULF1_ENST00000419716.3_Missense_Mutation_p.T611S|SULF1_ENST00000458141.2_Missense_Mutation_p.T611S NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 611 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.T611S(1) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCCACCTACCACTGTCCGAGT 0.507000 10 21 0 0 0.008291 0 0 TATDN3 128387 broad.mit.edu 37 1 212977679 212977679 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:212977679C>T ENST00000366974.4 + 6 433 c.339C>T c.(337-339)tcC>tcT p.S113S TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000531963.1_Silent_p.S113S|TATDN3_ENST00000526641.1_Silent_p.S92S|TATDN3_ENST00000526997.1_Silent_p.S113S|TATDN3_ENST00000532324.1_Silent_p.S113S|TATDN3_ENST00000366973.4_Silent_p.S113S|TATDN3_ENST00000530441.1_3'UTR NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 113 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.S113S(1) endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) TAGATTTCTCCCCCAGATTTG 0.383000 8 41 0 0 0.004482 0 0 LAX1 54900 broad.mit.edu 37 1 203740015 203740015 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:203740015T>A ENST00000442561.2 + 2 539 c.149T>A c.(148-150)cTg>cAg p.L50Q LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.L34Q NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 50 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.L50Q(1) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GCCATCCTCCTGGTCGTTGCG 0.453000 41 125 0 0 0.014410 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115531754 115531754 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:115531754G>A ENST00000361048.1 + 8 905 c.578G>A c.(577-579)gGa>gAa p.G193E PLEKHS1_ENST00000369310.3_Missense_Mutation_p.G187E|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.G105E|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.G7E NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 p.G105E(1)|p.G193E(1) AGTTCTCCAGGATTTAGGCAA 0.348000 39 74 0 0 0.006999 0 0 RAB30 27314 broad.mit.edu 37 11 82698683 82698683 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:82698683A>T ENST00000533486.1 - 5 591 c.307T>A c.(307-309)Tgg>Agg p.W103R RAB30_ENST00000532548.1_Missense_Mutation_p.W103R|RAB30_ENST00000527633.1_Missense_Mutation_p.W103R|RAB30_ENST00000525117.1_Missense_Mutation_p.W75R|RAB30_ENST00000534141.1_Missense_Mutation_p.W103R|RAB30_ENST00000260056.2_Missense_Mutation_p.W103R|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 103 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity p.W103R(1) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TCCCGCAGCCACTCAGGAAGG 0.483000 31 59 0 0 0.010818 0 0 C1orf189 388701 broad.mit.edu 37 1 154172963 154172963 + Nonsense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:154172963A>T ENST00000368525.3 - 3 201 c.176T>A c.(175-177)tTg>tAg p.L59* NM_001010979.1 NP_001010979.1 Q5VU69 CA189_HUMAN chromosome 1 open reading frame 189 59 p.L59*(1) kidney(1)|large_intestine(3)|lung(1)|skin(2) 7 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) GGCCAGTGCCAATTCCTGTAC 0.488000 90 198 0 0 0.014410 0 0 RHOU 58480 broad.mit.edu 37 1 228871753 228871753 + Splice_Site SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:228871753T>A ENST00000366691.3 + 1 928 c.e1+2 NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) ACTTCTCCGGTGAGCTggccg 0.716000 10 24 0 0 0.010729 0 0 CTU2 348180 broad.mit.edu 37 16 88780888 88780888 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:88780888G>C ENST00000567949.1 + 11 1417 c.1408G>C c.(1408-1410)Gcc>Ccc p.A470P CTU2_ENST00000453996.2_Missense_Mutation_p.A399P|CTU2_ENST00000378384.3_Missense_Mutation_p.A312P|CTU2_ENST00000312060.5_Missense_Mutation_p.A399P Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 399 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding p.A399P(1) NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GGACGTCGACGCCGCTGGTCT 0.687000 27 47 0 0 0.006320 0 0 RPH3A 22895 broad.mit.edu 37 12 113314634 113314634 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:113314634G>A ENST00000389385.4 + 13 1631 c.1134G>A c.(1132-1134)gaG>gaA p.E378E RPH3A_ENST00000548866.1_Silent_p.E329E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.E378E|RPH3A_ENST00000551052.1_Silent_p.E374E|RPH3A_ENST00000420983.2_Silent_p.E378E|RPH3A_ENST00000543106.2_Silent_p.E378E|RPH3A_ENST00000447659.2_Silent_p.E329E NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 378 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.E374E(1) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CAGAGGAGGAGGAAGAGGAAG 0.587000 18 45 0 0 0.008871 0 0 LRP1B 53353 broad.mit.edu 37 2 141093302 141093302 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:141093302G>T ENST00000389484.3 - 78 12969 c.11998C>A c.(11998-12000)Cac>Aac p.H4000N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4000 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.H4000N(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGTCCAGTGAGTAGTGTAG 0.463000 TSP Lung(27;0.18) 29 67 1.2476e-16 1.99916e-16 0.006320 1 0 PKD1 5310 broad.mit.edu 37 16 2158452 2158452 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:2158452G>A ENST00000262304.4 - 15 6924 c.6716C>T c.(6715-6717)aCg>aTg p.T2239M PKD1_ENST00000423118.1_Missense_Mutation_p.T2239M NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2239 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.T2239M(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGTCAGTGGCGTGTCCCCAAA 0.657000 38 27 0 0 0.006230 0 0 GJC1 10052 broad.mit.edu 37 17 42882827 42882827 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:42882827C>T ENST00000426548.1 - 3 628 c.359G>A c.(358-360)cGc>cAc p.R120H GJC1_ENST00000330514.4_Missense_Mutation_p.R120H|GJC1_ENST00000592524.1_Missense_Mutation_p.R120H|GJC1_ENST00000590758.1_Missense_Mutation_p.R120H NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 120 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane p.R120H(1) NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TTGTTTCCAGCGCATTGCATA 0.488000 25 97 0 0 0.002780 0 0 AKAP3 10566 broad.mit.edu 37 12 4737964 4737964 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:4737964G>T ENST00000545990.2 - 5 628 c.104C>A c.(103-105)tCc>tAc p.S35Y AKAP3_ENST00000228850.1_Missense_Mutation_p.S35Y NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 35 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.S35Y(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AGGATCCGTGGAGGTGTCCTT 0.438000 17 31 5.03518e-11 6.92772e-11 0.007413 1 0 SAG 6295 broad.mit.edu 37 2 234217807 234217807 + Splice_Site SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:234217807G>T ENST00000409110.1 + 2 202 c.e2-1 NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AACACCCCAAGGTGGTAGAAG 0.473000 5 10 5.9392e-07 7.20286e-07 0.001168 1 0 OR1L3 26735 broad.mit.edu 37 9 125437680 125437680 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:125437680C>A ENST00000304820.2 + 1 366 c.272C>A c.(271-273)aCc>aAc p.T91N NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T91N(1) breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 GAGAAAAAGACCATTTCCTAT 0.408000 49 185 2.24722e-20 3.89844e-20 0.014410 1 0 OR6F1 343169 broad.mit.edu 37 1 247875220 247875220 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:247875220C>G ENST00000302084.2 - 1 885 c.838G>C c.(838-840)Gtg>Ctg p.V280L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V280L(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGAGTCACCACAGTGTTCAGG 0.453000 41 125 0 0 0.011902 0 0 ZNF266 10781 broad.mit.edu 37 19 9525173 9525173 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:9525173T>A ENST00000592904.1 - 5 2504 c.428A>T c.(427-429)gAt>gTt p.D143V ZNF266_ENST00000361451.2_Missense_Mutation_p.D143V|ZNF266_ENST00000592292.1_Missense_Mutation_p.D143V|ZNF266_ENST00000590306.1_Missense_Mutation_p.D143V|ZNF266_ENST00000588933.1_Missense_Mutation_p.D143V|ZNF266_ENST00000588221.1_Missense_Mutation_p.D143V|ZNF266_ENST00000361151.1_Missense_Mutation_p.D143V Q14584 ZN266_HUMAN zinc finger protein 266 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D143V(1) NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 GCAAACAACATCTGGGTTCAG 0.438000 58 94 0 0 0.014410 0 0 GALR1 2587 broad.mit.edu 37 18 74980680 74980680 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:74980680T>A ENST00000299727.3 + 3 872 c.872T>A c.(871-873)cTg>cAg p.L291Q NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 291 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.L291Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GCCCACTGCCTGGCGTACAGC 0.493000 25 63 0 0 0.003954 0 0 LEPR 3953 broad.mit.edu 37 1 66101910 66101910 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:66101910G>A ENST00000349533.6 + 20 2895 c.2710G>A c.(2710-2712)Gca>Aca p.A904T LEPR_ENST00000406510.3_5'UTR NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 904 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.A904T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CAAGCATACAGCATCAGTGAC 0.338000 56 117 0 0 0.014410 0 0 FMN2 56776 broad.mit.edu 37 1 240370521 240370521 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:240370521C>A ENST00000319653.9 + 5 2639 c.2409C>A c.(2407-2409)ccC>ccA p.P803P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 803 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P946P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCATCAGCCCACACAGAGCA 0.547000 20 49 2.94398e-08 3.75287e-08 0.007413 1 0 MAST4 375449 broad.mit.edu 37 5 66462274 66462274 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:66462274G>C ENST00000404260.3 + 29 7584 c.7276G>C c.(7276-7278)Ggt>Cgt p.G2426R MAST4_ENST00000403666.1_Missense_Mutation_p.G2234R|MAST4_ENST00000405643.1_Missense_Mutation_p.G2244R|MAST4_ENST00000403625.2_Missense_Mutation_p.G2423R|MAST4_ENST00000261569.7_Missense_Mutation_p.G2229R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2426 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G2426R(1) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GAAAGGGCCCGGTCCCCAGAA 0.662000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 0 0 0.000602 0 0 FIP1L1 81608 broad.mit.edu 37 4 54257289 54257289 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:54257289A>T ENST00000507166.1 + 8 619 c.619A>T c.(619-621)Act>Tct p.T207S FIP1L1_ENST00000507922.1_Missense_Mutation_p.T192S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.T192S|FIP1L1_ENST00000306932.6_Missense_Mutation_p.T192S|FIP1L1_ENST00000337488.6_Missense_Mutation_p.T207S Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 207 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4. mRNA processing nucleus RNA binding p.T207S(1) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGTAACCTCTACTACAAATAA 0.348000 T PDGFRA idiopathic hypereosinophilic syndrome 41 87 0 0 0.008740 0 0 NPHP3 27031 broad.mit.edu 37 3 132438549 132438549 + Splice_Site SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:132438549C>G ENST00000326682.8 - 2 595 c.519_splice c.e2+1 p.K173_splice NPHP3_ENST00000343113.4_Splice_Site_p.K173_splice|NPHP3_ENST00000337331.5_Splice_Site_p.K173_splice Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 173 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding p.K173N(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGAATTTACCTTGAATTGCC 0.299000 21 69 0 0 0.005443 0 0 PXMP4 11264 broad.mit.edu 37 20 32295577 32295577 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:32295577C>A ENST00000409299.3 - 4 666 c.574G>T c.(574-576)Gac>Tac p.D192Y PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 192 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity p.D192Y(1) NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 ACATTGCTGTCCTCATAGAGG 0.557000 37 72 1.49673e-21 2.63082e-21 0.006230 1 0 TNR 7143 broad.mit.edu 37 1 175335276 175335276 + Splice_Site SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:175335276T>A ENST00000367674.1 - 11 2762 c.e11-2 TNR_ENST00000263525.2_Splice_Site NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.?(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGTCAAGTTCTGTGGATTGAC 0.527000 8 27 0 0 0.004482 0 0 TRHR 7201 broad.mit.edu 37 8 110100469 110100469 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:110100469C>A ENST00000518632.1 + 2 1079 c.728C>A c.(727-729)aCa>aAa p.T243K TRHR_ENST00000311762.2_Missense_Mutation_p.T243K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 243 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.T243K(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CATCAGAACACAAATCTGAAT 0.353000 21 35 1.96292e-10 2.64597e-10 0.010504 1 0 FAT3 120114 broad.mit.edu 37 11 92257849 92257849 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:92257849C>T ENST00000298047.6 + 2 3359 c.3342C>T c.(3340-3342)taC>taT p.Y1114Y FAT3_ENST00000541502.1_Silent_p.Y1114Y|FAT3_ENST00000525166.1_Silent_p.Y964Y|FAT3_ENST00000409404.2_Silent_p.Y1114Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1114 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y1114Y(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGGGTCATACTGGCTAACAG 0.473000 TCGA Ovarian(4;0.039) 18 26 0 0 0.008871 0 0 SYNE1 23345 broad.mit.edu 37 6 152640091 152640091 + Silent SNP C C T rs144376043 byFrequency TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:152640091C>T ENST00000367255.5 - 85 16897 c.16296G>A c.(16294-16296)cgG>cgA p.R5432R SYNE1_ENST00000448038.1_Silent_p.R5361R|SYNE1_ENST00000341594.5_Silent_p.R5105R|SYNE1_ENST00000423061.1_Silent_p.R5361R|SYNE1_ENST00000265368.4_Silent_p.R5432R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5432 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.R5432R(2)|p.R5361R(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTGAATTTGCCGGCTGAGTT 0.388000 HNSCC(10;0.0054) 3 34 0 0 0.009096 0 0 FOLH1B 219595 broad.mit.edu 37 11 89402588 89402588 + RNA SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:89402588A>G ENST00000532352.1 + 0 825 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.S4S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TGGGTGGCTCAGCACCACCAG 0.378000 19 37 0 0 0.010504 0 0 ERBB4 2066 broad.mit.edu 37 2 212285330 212285330 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:212285330C>T ENST00000342788.4 - 25 3281 c.2971G>A c.(2971-2973)Gat>Aat p.D991N ERBB4_ENST00000436443.1_Missense_Mutation_p.D991N|ERBB4_ENST00000402597.1_Missense_Mutation_p.D981N NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 991 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.D991N(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCATACGATCATCACCCTAA 0.353000 TSP Lung(8;0.080) 12 22 0 0 0.013537 0 0 OR2G6 391211 broad.mit.edu 37 1 248685450 248685450 + Missense_Mutation SNP T T G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:248685450T>G ENST00000343414.4 + 1 535 c.503T>G c.(502-504)cTc>cGc p.L168R NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L168R(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGCTGCCCCTCTGTGGTCAT 0.547000 11 42 0 0 0.010729 0 0 SYNE3 161176 broad.mit.edu 37 14 95884179 95884179 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:95884179C>A ENST00000334258.5 - 17 2926 c.2912G>T c.(2911-2913)gGc>gTc p.G971V SYNE3_ENST00000557275.1_Missense_Mutation_p.G966V|SYNE3_ENST00000554873.1_Missense_Mutation_p.G728V NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 p.G971V(3) breast(1)|endometrium(2)|lung(25) 28 GGGTGGTGGGCCATTGTAGCG 0.622000 76 70 2.56221e-42 4.84513e-42 0.014410 1 0 WDR7 23335 broad.mit.edu 37 18 54398639 54398639 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:54398639G>T ENST00000254442.3 + 14 2011 c.1800G>T c.(1798-1800)ggG>ggT p.G600G WDR7_ENST00000357574.3_Silent_p.G600G|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 600 p.G600G(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GTGTGATGGGGATAACAGCAG 0.368000 19 41 1.2644e-06 1.50596e-06 0.010504 1 0 RRP12 23223 broad.mit.edu 37 10 99125989 99125989 + Splice_Site SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:99125989G>A ENST00000370992.4 - 29 3504 c.3391_splice c.e29-1 p.A1131_splice RRP12_ENST00000414986.1_Splice_Site_p.A1070_splice|RRP12_ENST00000315563.6_Splice_Site_p.A1031_splice|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Splice_Site_p.A849_splice NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1131 integral to membrane|nuclear membrane|nucleolus protein binding p.A1131A(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CTGGCTGCGTGGCTGGGGTGT 0.627000 14 27 0 0 0.004007 0 0 DSC3 1825 broad.mit.edu 37 18 28609517 28609517 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:28609517C>A ENST00000434452.1 - 4 586 c.432G>T c.(430-432)atG>atT p.M144I DSC3_ENST00000360428.4_Missense_Mutation_p.M144I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 144 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.M144I(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AATTCTCTTGCATAGAGCAAG 0.413000 30 43 1.39806e-14 2.11297e-14 0.008361 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58563859 58563859 + Splice_Site SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:58563859C>A ENST00000282326.1 + 5 714 c.465_splice c.e5-1 p.A156_splice NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 156 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A156E(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCATTCTAGGCGTCTGAGCTG 0.617000 29 43 5.45727e-16 8.53902e-16 0.008361 1 0 POLR3A 11128 broad.mit.edu 37 10 79742445 79742445 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:79742445T>A ENST00000372371.3 - 27 3697 c.3560A>T c.(3559-3561)tAc>tTc p.Y1187F NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1187 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.Y1187F(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CTGCAGCACGTAGTACATGGA 0.562000 11 31 0 0 0.001855 0 0 SLC9C2 284525 broad.mit.edu 37 1 173545825 173545825 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:173545825G>T ENST00000367714.3 - 8 1299 c.877C>A c.(877-879)Ccg>Acg p.P293T SLC9C2_ENST00000536496.1_Missense_Mutation_p.P191T|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 293 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity p.P293T(1) TCGATCTTCGGTTTAAAAGTT 0.398000 10 31 0.000673444 0.000738198 0.008291 1 0 STAB2 55576 broad.mit.edu 37 12 104096985 104096985 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:104096985C>A ENST00000388887.2 + 35 3978 c.3774C>A c.(3772-3774)atC>atA p.I1258I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1258 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.I1258I(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGAGTGATCCATGGCTTGG 0.388000 41 50 8.69298e-16 1.34961e-15 0.006999 1 0 PDYN 5173 broad.mit.edu 37 20 1961379 1961379 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:1961379C>A ENST00000217305.2 - 4 580 c.355G>T c.(355-357)Gag>Tag p.E119* RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Nonsense_Mutation_p.E119*|PDYN_ENST00000539905.1_Nonsense_Mutation_p.E119* NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 119 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.K118_E119>N*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAGTGTTCTCCTTTGTTGAG 0.552000 38 69 5.04308e-16 7.922e-16 0.006230 1 0 IGHV3-66 28412 broad.mit.edu 37 14 107131482 107131482 + RNA SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:107131482G>T ENST00000390632.2 - 0 78 CAAACTCCATGGCGAGTCCTC 0.507000 46 39 6.3008e-33 1.15853e-32 0.014410 1 0 NPHS1 4868 broad.mit.edu 37 19 36332708 36332708 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:36332708G>A ENST00000378910.5 - 20 2723 c.2724C>T c.(2722-2724)aaC>aaT p.N908N NPHS1_ENST00000353632.6_Silent_p.N908N NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 908 Ig-like C2-type 8. cell adhesion|excretion|muscle organ development integral to plasma membrane p.N908N(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGCAGACACGTTGGCAATGG 0.562000 8 20 0 0 0.003080 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150322156 150322156 + RNA SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:150322156T>A ENST00000520773.1 - 0 1328 CACATCCCTGTACAGGGTCCT 0.502000 22 30 0 0 0.012319 0 0 ANAPC4 29945 broad.mit.edu 37 4 25408818 25408818 + Splice_Site SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:25408818G>T ENST00000315368.3 + 20 1516 c.e20-1 ANAPC4_ENST00000510092.1_Splice_Site NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity p.?(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTTTTTTCCAGGCTCCAGACC 0.338000 8 22 1.26484e-09 1.66011e-09 0.003080 1 0 ABR 29 broad.mit.edu 37 17 960259 960259 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:960259G>C ENST00000544583.2 - 13 1926 c.1327C>G c.(1327-1329)Cct>Gct p.P443A ABR_ENST00000536794.2_Missense_Mutation_p.P271A|ABR_ENST00000302538.5_Missense_Mutation_p.P489A|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Missense_Mutation_p.P443A|ABR_ENST00000291107.2_Missense_Mutation_p.P452A NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 489 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.P489A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CTGGTGACAGGAATGTTGTGT 0.582000 38 103 0 0 0.009718 0 0 PTPRT 11122 broad.mit.edu 37 20 41306789 41306789 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:41306789C>T ENST00000373198.3 - 7 1105 c.870G>A c.(868-870)acG>acA p.T290T PTPRT_ENST00000373201.1_Silent_p.T290T|PTPRT_ENST00000373187.1_Silent_p.T290T|PTPRT_ENST00000356100.2_Silent_p.T290T|PTPRT_ENST00000373184.1_Silent_p.T290T|PTPRT_ENST00000373190.1_Silent_p.T290T|PTPRT_ENST00000373193.3_Silent_p.T290T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 290 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.T290T(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGCAATGGGCGTGGGAGGCT 0.517000 17 17 0 0 0.004007 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712605 1712605 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:1712605G>C ENST00000313871.3 + 2 446 c.250G>C c.(250-252)Gag>Cag p.E84Q AKAP17A_ENST00000381261.3_Missense_Mutation_p.E84Q NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 84 PKA-RI and PKA-RII subunit binding domain. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding p.E84Q(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GGGGGAGGTGGAGAACAAGAG 0.587000 62 120 0 0 0.014410 0 0 MUCL1 118430 broad.mit.edu 37 12 55250629 55250629 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:55250629C>A ENST00000308796.6 + 3 222 c.176C>A c.(175-177)aCc>aAc p.T59N MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.T54N NM_058173.2 NP_477521.1 Q96DR8 MUCL1_HUMAN mucin-like 1 59 3 X 8 AA tandem repeat of T-T-A-A-[APS]- T-T-A.|Thr-rich. extracellular region|membrane p.T59N(1) breast(1)|kidney(1)|lung(1) 3 gctgctcctaccactgcaacc 0.507000 27 41 2.44723e-14 3.6847e-14 0.004656 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849422 171849422 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:171849422G>A ENST00000311601.5 - 2 324 c.154C>T c.(154-156)Cag>Tag p.Q52* SH3PXD2B_ENST00000519643.1_Nonsense_Mutation_p.Q52* NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 52 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding p.Q52*(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCTTACCTGGAGGTCAAAA 0.488000 3 7 0 0 0.004672 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773464 140773464 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:140773464C>T ENST00000398604.2 + 1 1084 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_032088.1 NP_114477.1 p.P362S(1) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATTCTCTTCCCGGGACAGT 0.403000 12 34 0 0 0.010729 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980354 158980354 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:158980354G>T ENST00000485419.1 + 4 342 c.173G>T c.(172-174)cGa>cTa p.R58L IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Missense_Mutation_p.R58L|IQCJ_ENST00000482126.1_Missense_Mutation_p.R31L|IQCJ_ENST00000397832.2_Missense_Mutation_p.R58L|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R31L NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding p.R58L(3) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CGAGCATGGCGAGAGTACCTG 0.517000 26 86 3.1745e-13 4.63965e-13 0.008361 1 0 MAP3K4 4216 broad.mit.edu 37 6 161519411 161519411 + Missense_Mutation SNP G G T rs144235437 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:161519411G>T ENST00000392142.4 + 17 3774 c.3626G>T c.(3625-3627)gGt>gTt p.G1209V MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1205V|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1209 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.G1209V(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGCCCCTCTGGTGGTGACTCT 0.632000 53 34 1.04682e-39 1.97019e-39 0.014410 1 0 MYCBP2 23077 broad.mit.edu 37 13 77640183 77640183 + Missense_Mutation SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:77640183A>G ENST00000407578.2 - 72 12762 c.12496T>C c.(12496-12498)Tca>Cca p.S4166P MYCBP2_ENST00000544440.2_Missense_Mutation_p.S4128P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S4128P NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.S4166P(1)|p.S4128P(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTAGGGGTTGAGCCCTTCATC 0.398000 3 102 0 0 0.009096 0 0 ANK2 287 broad.mit.edu 37 4 114278501 114278501 + Silent SNP C C A rs144821187 byFrequency TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:114278501C>A ENST00000357077.4 + 38 8780 c.8727C>A c.(8725-8727)ccC>ccA p.P2909P ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.P2876P|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2876 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.P2909P(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGATGTTCCCGTGTCTGACC 0.393000 85 230 6.07207e-39 1.13744e-38 0.014410 1 0 MYH2 4620 broad.mit.edu 37 17 10450851 10450851 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:10450851G>A ENST00000245503.5 - 4 673 c.289C>T c.(289-291)Ctg>Ttg p.L97L CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.L97L|MYH2_ENST00000397183.2_Silent_p.L97L NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 97 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L97L(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGCTCATGCAGATGAGTCATC 0.483000 5 188 0 0 0.001168 0 0 ZC3H14 79882 broad.mit.edu 37 14 89034479 89034479 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:89034479C>G ENST00000251038.5 + 3 401 c.176C>G c.(175-177)aCa>aGa p.T59R ZC3H14_ENST00000555755.1_Missense_Mutation_p.T59R|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.T59R|ZC3H14_ENST00000393514.5_Missense_Mutation_p.T59R|ZC3H14_ENST00000302216.8_Missense_Mutation_p.T59R|ZC3H14_ENST00000336693.4_Missense_Mutation_p.T25R|ZC3H14_ENST00000359301.3_Missense_Mutation_p.T25R NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 59 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding p.T59R(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GGGAACAACACAATTCGATTC 0.418000 27 19 0 0 0.008361 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841487 8841487 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:8841487G>C ENST00000324060.2 + 1 172 c.97G>C c.(97-99)Gtc>Ctc p.V33L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V33L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTGGTGGCTGTCATGTTTGT 0.547000 19 44 0 0 0.007413 0 0 MYH1 4619 broad.mit.edu 37 17 10401161 10401161 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:10401161C>A ENST00000226207.5 - 31 4349 c.4255G>T c.(4255-4257)Gag>Tag p.E1419* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1419 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.E1419*(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCGTCTTCTCAAGGGAAGCA 0.473000 34 55 1.8613e-05 2.15263e-05 0.004289 1 0 NXF4 55999 broad.mit.edu 37 X 101818963 101818963 + RNA SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:101818963C>A ENST00000360035.2 + 0 1247 NR_002216.1 p.S168S(1) endometrium(2)|lung(8) 10 CTGACCAGTCCGCCTATGTAA 0.557000 13 19 4.3838e-07 5.36545e-07 0.001855 1 0 SERPINB8 5271 broad.mit.edu 37 18 61654208 61654208 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:61654208A>T ENST00000397985.2 + 7 1077 c.821A>T c.(820-822)gAg>gTg p.E274V SERPINB8_ENST00000353706.2_Missense_Mutation_p.E274V|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E92V NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 274 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity p.E274V(1) breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTAAAGCTGGAGGAGAGTTAT 0.393000 45 64 0 0 0.014410 0 0 PXK 54899 broad.mit.edu 37 3 58381436 58381436 + Nonsense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:58381436C>T ENST00000463280.1 + 7 764 c.673C>T c.(673-675)Cag>Tag p.Q225* PXK_ENST00000383715.4_Nonsense_Mutation_p.Q241*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q225*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q241*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q241*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q258*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q258*|PXK_ENST00000536660.1_Nonsense_Mutation_p.Q121* Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 258 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity p.Q258*(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TAAGAAGATTCAGGGCCTGGA 0.388000 36 64 0 0 0.006230 0 0 GNAS 2778 broad.mit.edu 37 20 57485035 57485035 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:57485035T>C ENST00000371100.4 + 11 3350 c.2798T>C c.(2797-2799)tTc>tCc p.F933S GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.F276S|GNAS_ENST00000371085.3_Missense_Mutation_p.F290S|GNAS_ENST00000371095.3_Missense_Mutation_p.F276S|GNAS_ENST00000354359.7_Missense_Mutation_p.F291S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.F919S|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.F275S NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 290 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.F933S(1)|p.F290S(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GTGATCCTGTTCCTCAACAAG 0.522000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 11 65 0 0 0.010729 0 0 SFSWAP 6433 broad.mit.edu 37 12 132195832 132195832 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:132195832G>A ENST00000261674.4 + 1 199 c.58G>A c.(58-60)Gag>Aag p.E20K SFSWAP_ENST00000541286.1_Missense_Mutation_p.E20K NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 20 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding p.E20K(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CGCGAAGGAGGAGGCCGGGCC 0.716000 13 20 0 0 0.001855 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900661 28900661 + RNA SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:28900661A>T ENST00000528584.1 + 0 162 NR_036443.1 GAGGTGGCGCAGGGTGTGCCC 0.637000 11 27 0 0 0.010729 0 0 DIABLO 56616 broad.mit.edu 37 12 122693021 122693021 + Silent SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:122693021T>A ENST00000464942.2 - 5 1861 c.468A>T c.(466-468)gcA>gcT p.A156A DIABLO_ENST00000443649.3_Silent_p.A209A|DIABLO_ENST00000353548.6_Silent_p.A165A|DIABLO_ENST00000267169.6_Silent_p.A156A|B3GNT4_ENST00000546192.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000413918.1_Silent_p.A165A NM_001278304.1 NP_001265233.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 209 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding p.A209A(1) breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) TCTGTGCTTCTGCCAGCTTGG 0.572000 16 43 0 0 0.004007 0 0 SH3D21 79729 broad.mit.edu 37 1 36786257 36786257 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:36786257G>T ENST00000453908.2 + 14 2021 c.1993G>T c.(1993-1995)Gac>Tac p.D665Y SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.D549Y|SH3D21_ENST00000505871.1_Missense_Mutation_p.D554Y|SH3D21_ENST00000312808.4_Missense_Mutation_p.D311Y NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 549 p.D311Y(1)|p.D665Y(1) endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 GCCGCCTCCAGACTCCCAAGA 0.552000 19 19 1.56452e-12 2.22945e-12 0.007413 1 0 KCNH2 3757 broad.mit.edu 37 7 150656702 150656702 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:150656702C>A ENST00000392968.2 - 1 1262 c.142G>T c.(142-144)Gac>Tac p.D48Y KCNH2_ENST00000262186.5_Missense_Mutation_p.D144Y|KCNH2_ENST00000430723.3_Missense_Mutation_p.D144Y Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 144 PAS. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.D144Y(2) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGGTTGGTGTCATGAGCCGGG 0.592000 22 30 1.7367e-05 2.01437e-05 0.006320 1 0 RPL3 6122 broad.mit.edu 37 22 39709669 39709669 + Silent SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr22:39709669T>A ENST00000216146.4 - 8 1190 c.1017A>T c.(1015-1017)ggA>ggT p.G339G RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.G287G NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 339 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.G339G(1) breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) GCTTCTTGGTTCCCACCACAC 0.577000 112 211 0 0 0.014410 0 0 GPR125 166647 broad.mit.edu 37 4 22389449 22389449 + Missense_Mutation SNP C C A rs149299752 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:22389449C>A ENST00000334304.5 - 19 4114 c.3845G>T c.(3844-3846)gGc>gTc p.G1282V GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1282 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.G1282V(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CAAGTTGAGGCCATAAGATTT 0.433000 26 41 1.88708e-17 3.09855e-17 0.008361 1 0 SUSD4 55061 broad.mit.edu 37 1 223402684 223402684 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:223402684G>T ENST00000343846.3 - 5 1404 c.771C>A c.(769-771)caC>caA p.H257Q SUSD4_ENST00000366878.4_Missense_Mutation_p.H257Q|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.H97Q Q5VX71 SUSD4_HUMAN sushi domain containing 4 257 Sushi 4. integral to membrane p.H257Q(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AAGGCCGCGGGTGGCAGACGA 0.532000 10 24 0.0135373 0.0143273 0.013537 1 0 MYO7A 4647 broad.mit.edu 37 11 76872065 76872065 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:76872065C>G ENST00000409709.3 + 12 1519 c.1247C>G c.(1246-1248)gCa>gGa p.A416G MYO7A_ENST00000458637.2_Missense_Mutation_p.A416G|MYO7A_ENST00000409619.2_Missense_Mutation_p.A405G|MYO7A_ENST00000409893.1_Missense_Mutation_p.A416G NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 416 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.A416G(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AAGATCAACGCAGCAATTTAC 0.567000 9 17 0 0 0.006214 0 0 NEBL 10529 broad.mit.edu 37 10 21120447 21120447 + Silent SNP A A C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:21120447A>C ENST00000377122.4 - 15 1911 c.1515T>G c.(1513-1515)acT>acG p.T505T NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 505 regulation of actin filament length actin binding|structural constituent of muscle p.T505T(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGACATCAAGAGTGTCTGTGC 0.423000 27 52 0 0 0.006320 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303785 5303785 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:5303785C>A ENST00000274181.7 + 20 3230 c.3092C>A c.(3091-3093)aCc>aAc p.T1031N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1031 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T1031N(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCTGTCTGCACCTCCGAGCCC 0.647000 10 17 3.86212e-05 4.42812e-05 0.008291 1 0 NTRK3 4916 broad.mit.edu 37 15 88476290 88476290 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:88476290G>A ENST00000394480.1 - 16 2163 c.1842C>T c.(1840-1842)atC>atT p.I614I NTRK3_ENST00000542733.2_Silent_p.I516I|NTRK3_ENST00000355254.2_Silent_p.I614I|NTRK3_ENST00000360948.2_Silent_p.I614I|NTRK3_ENST00000357724.2_Silent_p.I606I|NTRK3_ENST00000558676.1_Silent_p.I606I|NTRK3_ENST00000557856.1_Silent_p.I606I NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 614 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.I614I(2) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CAAAGACCATGATGAGGGGGT 0.547000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 9 22 0 0 0.006214 0 0 FFAR2 2867 broad.mit.edu 37 19 35940868 35940868 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:35940868C>A ENST00000599180.1 + 2 332 c.252C>A c.(250-252)ctC>ctA p.L84L FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L84L O15552 FFAR2_HUMAN free fatty acid receptor 2 84 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.L84L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCTGCGCCCTCACGAGTTTTG 0.617000 9 21 4.68919e-08 5.88361e-08 0.008291 1 0 NOTCH2 4853 broad.mit.edu 37 1 120510080 120510080 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:120510080C>G ENST00000256646.2 - 8 1648 c.1429G>C c.(1429-1431)Ggc>Cgc p.G477R NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 477 EGF-like 12; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.G477R(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATGTGAAGCCTCCAATCTTA 0.493000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 49 94 0 0 0.014410 0 0 TPH2 121278 broad.mit.edu 37 12 72388308 72388308 + Missense_Mutation SNP T T G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:72388308T>G ENST00000333850.3 + 8 1172 c.1031T>G c.(1030-1032)cTg>cGg p.L344R NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 344 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity p.L344R(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CTGGCGTCTCTGGGAGCATCA 0.408000 25 71 0 0 0.003954 0 0 FAM135B 51059 broad.mit.edu 37 8 139163581 139163581 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:139163581G>T ENST00000395297.1 - 13 3307 c.3137C>A c.(3136-3138)tCt>tAt p.S1046Y NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1046 p.S1046Y(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTGGGCACAGATGAGAAAGG 0.522000 HNSCC(54;0.14) 11 21 6.40141e-05 7.23559e-05 0.010729 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232538195 232538195 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:232538195G>T ENST00000366630.1 - 21 5323 c.4965C>A c.(4963-4965)acC>acA p.T1655T SIPA1L2_ENST00000308942.4_Silent_p.T711T|SIPA1L2_ENST00000262861.4_Silent_p.T1655T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1655 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.T1655T(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGACTTTCCCGGTCAGTGGTG 0.403000 13 31 4.3838e-07 5.36545e-07 0.001855 1 0 ABL1 25 broad.mit.edu 37 9 133759671 133759671 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:133759671G>T ENST00000318560.5 + 11 2375 c.1994G>T c.(1993-1995)gGg>gTg p.G665V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 665 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.G665L(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCCAGCAATGGGGCTGGGGTC 0.672000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 8 29 6.5536e-12 9.14296e-12 0.003080 1 0 ABL1 25 broad.mit.edu 37 9 133759670 133759670 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:133759670G>T ENST00000318560.5 + 11 2374 c.1993G>T c.(1993-1995)Ggg>Tgg p.G665W NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 665 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.G665L(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCCAGCAATGGGGCTGGGGT 0.672000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 8 29 6.5536e-12 9.14296e-12 0.003080 1 0 PSD2 84249 broad.mit.edu 37 5 139216787 139216787 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:139216787C>T ENST00000274710.3 + 11 1834 c.1629C>T c.(1627-1629)taC>taT p.Y543Y NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 543 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.Y543Y(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAATTCTACGCAGTGCTCA 0.627000 21 62 0 0 0.002780 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266967 41266967 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:41266967G>T ENST00000349496.5 + 5 918 c.638G>T c.(637-639)tGt>tTt p.C213F CTNNB1_ENST00000396185.3_Missense_Mutation_p.C213F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C213F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C206F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C213F NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 213 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.C213F(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCGTTGTACCGCTGGG 0.473000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 6 23 0.00116845 0.00126344 0.001168 1 0 ACKR3 57007 broad.mit.edu 37 2 237489664 237489664 + Missense_Mutation SNP G G T rs143561143 byFrequency TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:237489664G>T ENST00000272928.3 + 2 866 c.556G>T c.(556-558)Gtc>Ttc p.V186F NM_020311.2 NP_064707.1 atypical chemokine receptor 3 p.V186F(1)|p.V186I(1) CCTGAAGACCGTCACGTCTGC 0.587000 24 69 4.16121e-05 4.75737e-05 0.002780 1 0 DHX16 8449 broad.mit.edu 37 6 30633459 30633459 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:30633459G>A ENST00000376442.3 - 5 913 c.718C>T c.(718-720)Cga>Tga p.R240* NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 240 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity p.R240*(1) kidney(2)|ovary(2) 4 AGCTTCTCTCGCTCCCGCTTA 0.577000 20 72 0 0 0.002780 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 54 0 0 0.004672 0 0 CDX2 1045 broad.mit.edu 37 13 28537437 28537437 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:28537437G>C ENST00000381020.7 - 3 2889 c.757C>G c.(757-759)Cag>Gag p.Q253E CDX2_ENST00000548877.1_5'UTR NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 253 Poly-Gln. organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q253E(1) endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) tgctgctgctgttgctgctgc 0.547000 T ETV6 AML 13 25 0 0 0.013537 0 0 FMO1 2326 broad.mit.edu 37 1 171254553 171254553 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:171254553C>A ENST00000354841.4 + 8 1600 c.1469C>A c.(1468-1470)aCc>aAc p.T490N FMO1_ENST00000402921.2_Missense_Mutation_p.T427N|FMO1_ENST00000367750.3_Missense_Mutation_p.T490N|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 490 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.T490N(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCCATCATGACCCAGTGGGAC 0.488000 21 60 2.37509e-13 3.49691e-13 0.010504 1 0 TRIM3 10612 broad.mit.edu 37 11 6478596 6478596 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:6478596T>A ENST00000525074.1 - 5 1020 c.626A>T c.(625-627)gAg>gTg p.E209V TRIM3_ENST00000345851.3_Missense_Mutation_p.E209V|TRIM3_ENST00000359518.3_Missense_Mutation_p.E209V|TRIM3_ENST00000537602.1_Missense_Mutation_p.E209V|TRIM3_ENST00000536344.1_Missense_Mutation_p.E90V|TRIM3_ENST00000529058.1_5'UTR NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 209 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding p.E209V(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTGCTTGCTCCAGGTCCTC 0.602000 26 44 0 0 0.003954 0 0 MAP2K3 5606 broad.mit.edu 37 17 21201758 21201758 + Translation_Start_Site SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:21201758C>A ENST00000361818.5 + 0 90 MAP2K3_ENST00000316920.6_De_novo_Start_OutOfFrame|MAP2K3_ENST00000342679.4_Missense_Mutation_p.S28Y NM_002756.4 NP_002747.2 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S32Y(1)|p.S32F(1) COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CTACGGATATCCTGCATGTCC 0.557000 27 162 6.36457e-07 7.69535e-07 0.003954 1 0 DNAH2 146754 broad.mit.edu 37 17 7630539 7630539 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:7630539A>T ENST00000572933.1 + 4 1788 c.328A>T c.(328-330)Aca>Tca p.T110S DNAH2_ENST00000570791.1_Missense_Mutation_p.T110S|DNAH2_ENST00000389173.2_Missense_Mutation_p.T110S|DNAH2_ENST00000082259.3_Missense_Mutation_p.T110S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 110 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.T110S(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCAGGACCCTACAGAATCCAT 0.547000 27 43 0 0 0.003954 0 0 BCKDHB 594 broad.mit.edu 37 6 80912907 80912907 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:80912907G>C ENST00000320393.6 + 8 976 c.929G>C c.(928-930)tGg>tCg p.W310S BCKDHB_ENST00000356489.5_Missense_Mutation_p.W310S|BCKDHB_ENST00000545529.1_3'UTR NM_183050.2 NP_898871.1 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 310 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding p.W310S(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) ATAATACCTTGGGATGTGGAC 0.363000 25 54 0 0 0.004656 0 0 STAB1 23166 broad.mit.edu 37 3 52556665 52556665 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:52556665C>T ENST00000321725.6 + 61 6781 c.6705C>T c.(6703-6705)gcC>gcT p.A2235A NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2235 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.A2235A(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACAGGGAGCCGTCCTTGCTT 0.622000 4 86 0 0 0.000602 0 0 GPR112 139378 broad.mit.edu 37 X 135474497 135474497 + Missense_Mutation SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:135474497A>G ENST00000394143.1 + 17 8309 c.8018A>G c.(8017-8019)cAt>cGt p.H2673R GPR112_ENST00000412101.1_Missense_Mutation_p.H2468R|GPR112_ENST00000394141.1_Missense_Mutation_p.H2468R|GPR112_ENST00000370652.1_Missense_Mutation_p.H2673R|GPR112_ENST00000287534.4_Missense_Mutation_p.H2426R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2673 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.H2673R(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACTCTGCAGCATATTGGAGGA 0.368000 64 81 0 0 0.014410 0 0 CDH20 28316 broad.mit.edu 37 18 59157856 59157856 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:59157856G>T ENST00000262717.4 + 2 468 c.70G>T c.(70-72)Ggg>Tgg p.G24W CDH20_ENST00000538374.1_Missense_Mutation_p.G24W|CDH20_ENST00000536675.2_Missense_Mutation_p.G24W Q9HBT6 CAD20_HUMAN cadherin 20, type 2 24 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G24W(1) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTACTTCTGGGGGCTGATGGA 0.507000 42 64 3.61848e-18 6.06627e-18 0.007835 1 0 DPF3 8110 broad.mit.edu 37 14 73360773 73360773 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:73360773G>T ENST00000541685.1 - 1 36 c.24C>A c.(22-24)ccC>ccA p.P8P DPF3_ENST00000556509.1_Silent_p.P8P|DPF3_ENST00000546183.1_5'UTR NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 8 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding p.P8P(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACGCTTTCAGGGGGTTGTGAA 0.478000 28 47 4.59853e-10 6.11604e-10 0.005443 1 0 ROBO2 6092 broad.mit.edu 37 3 77600006 77600006 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:77600006G>T ENST00000461745.1 + 8 1997 c.1097G>T c.(1096-1098)aGt>aTt p.S366I ROBO2_ENST00000332191.8_Missense_Mutation_p.S366I|ROBO2_ENST00000487694.3_Missense_Mutation_p.S382I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 366 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.S382I(1)|p.S366I(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGCCCAACAGTAGATGCTCA 0.443000 20 46 3.62473e-10 4.85325e-10 0.012319 1 0 RAD18 56852 broad.mit.edu 37 3 8977689 8977689 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:8977689G>C ENST00000264926.2 - 7 871 c.755C>G c.(754-756)tCt>tGt p.S252C NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 252 SAP. DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding p.S252C(1) breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) ATCACGATCAGAGAGCAAATT 0.353000 Rad6 pathway 7 98 0 0 0.003080 0 0 ABCG5 64240 broad.mit.edu 37 2 44065004 44065004 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:44065004G>T ENST00000260645.1 - 2 373 c.234C>A c.(232-234)agC>agA p.S78R ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR NM_022436.2 NP_071881.1 Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 78 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.S78R(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGATCTGCCCGCTCTCCACGT 0.502000 30 67 1.56442e-22 2.76196e-22 0.012213 1 0 DNAH7 56171 broad.mit.edu 37 2 196602802 196602802 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:196602802T>C ENST00000312428.6 - 65 12018 c.11918A>G c.(11917-11919)tAt>tGt p.Y3973C DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.Y456C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3973 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.Y3973C(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGGAGCAACATAACTTGGCCG 0.433000 16 27 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 7050841 7050841 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:7050841C>A ENST00000389658.3 - 4 533 c.440G>T c.(439-441)aGc>aTc p.S147I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 147 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.S147I(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCCAGGGGCTGAACGTGGT 0.493000 18 30 1.02788e-11 1.42901e-11 0.004990 1 0 CACNA1C 775 broad.mit.edu 37 12 2786340 2786340 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:2786340C>A ENST00000399655.1 + 40 5174 c.4909C>A c.(4909-4911)Cag>Aag p.Q1637K CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1657K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1645K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1643K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1678K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1685K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1656K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1656K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1665K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1654K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1645K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1656K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1662K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1685 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.Q1715K(1)|p.Q1172K(1)|p.Q1685K(1)|p.Q1678K(1)|p.Q1637K(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGCAAAGAGCAGGGCCTTGT 0.602000 7 16 0.00198382 0.00213931 0.001984 1 0 RYR2 6262 broad.mit.edu 37 1 237777866 237777866 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:237777866C>A ENST00000366574.2 + 37 5755 c.5438C>A c.(5437-5439)aCt>aAt p.T1813N RYR2_ENST00000542537.1_Missense_Mutation_p.T1797N|RYR2_ENST00000360064.6_Missense_Mutation_p.T1811N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1813 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.T1811N(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTGGAGGGACTACTGAATTC 0.478000 7 256 0.000274275 0.000303988 0.004482 1 0 XIRP2 129446 broad.mit.edu 37 2 168104598 168104598 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:168104598C>T ENST00000409195.1 + 9 6785 c.6696C>T c.(6694-6696)caC>caT p.H2232H XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.H2232H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.H2010H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2057 actin cytoskeleton organization cell junction actin binding p.H2232H(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAAAAGTCACAATACATTTA 0.363000 18 46 0 0 0.008871 0 0 TRIM46 80128 broad.mit.edu 37 1 155149759 155149759 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:155149759A>T ENST00000392451.2 + 5 985 c.902A>T c.(901-903)cAc>cTc p.H301L TRIM46_ENST00000368385.4_Missense_Mutation_p.H301L|TRIM46_ENST00000334634.4_Missense_Mutation_p.H301L|TRIM46_ENST00000368382.1_Missense_Mutation_p.H278L|TRIM46_ENST00000368383.3_Missense_Mutation_p.H301L|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.H175L|TRIM46_ENST00000543729.1_Missense_Mutation_p.H308L Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 301 intracellular zinc ion binding p.H301L(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCGTGAGGCACACCGAGGTG 0.607000 30 67 0 0 0.008361 0 0 INHBB 3625 broad.mit.edu 37 2 121107309 121107309 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:121107309G>T ENST00000295228.3 + 2 1129 c.1083G>T c.(1081-1083)cgG>cgT p.R361R NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 361 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity p.R361R(1) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) ACCGCATGCGGGGTCTGAACC 0.612000 4 28 0.00909568 0.00965206 0.009096 1 0 MTOR 2475 broad.mit.edu 37 1 11227545 11227545 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:11227545G>A ENST00000361445.4 - 29 4359 c.4283C>T c.(4282-4284)gCa>gTa p.A1428V NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1428 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.A1428V(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCGGCCGCTGCCTCCGGCTG 0.473000 78 140 0 0 0.014410 0 0 LRFN2 57497 broad.mit.edu 37 6 40400281 40400281 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:40400281C>A ENST00000338305.6 - 2 1114 c.572G>T c.(571-573)gGc>gTc p.G191V NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 191 cell junction|integral to membrane|postsynaptic membrane p.G191V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCAAAGGTGCCCTCGGCGAT 0.622000 22 72 5.35356e-11 7.29034e-11 0.002780 1 0 RGMA 56963 broad.mit.edu 37 15 93588628 93588628 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:93588628C>A ENST00000329082.7 - 4 1224 c.953G>T c.(952-954)gGc>gTc p.G318V RGMA_ENST00000557301.1_Missense_Mutation_p.G326V|RGMA_ENST00000538818.1_Missense_Mutation_p.G209V|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000556658.1_Missense_Mutation_p.G209V|RGMA_ENST00000543599.1_Missense_Mutation_p.G302V|RGMA_ENST00000425933.2_Missense_Mutation_p.G302V|RGMA_ENST00000542321.2_Missense_Mutation_p.G302V NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 318 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane p.G318V(1)|p.G326V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GAGGGGGCAGCCCCGCAGGCA 0.667000 9 12 0.000274275 0.000303988 0.004482 1 0 NHSL2 340527 broad.mit.edu 37 X 71359234 71359234 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:71359234G>T ENST00000373677.1 + 2 2000 c.738G>T c.(736-738)tcG>tcT p.S246S NHSL2_ENST00000540800.1_Silent_p.S612S|NHSL2_ENST00000510661.1_Silent_p.S381S|NHSL2_ENST00000535692.1_Silent_p.S246S F5H593 F5H593_HUMAN NHS-like 2 612 p.S612S(1)|p.S243S(1) NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GACATCACTCGTCCCACCCAG 0.527000 16 8 0.000422831 0.00046734 0.004007 1 0 OR51V1 283111 broad.mit.edu 37 11 5221039 5221039 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:5221039G>T ENST00000321255.1 - 1 891 c.892C>A c.(892-894)Ccc>Acc p.P298T NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P298T(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGATGATGGGATTCATTAAA 0.428000 26 41 9.86323e-18 1.63296e-17 0.003954 1 0 CSF2RA 1438 broad.mit.edu 37 X 1407713 1407713 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:1407713C>T ENST00000381524.3 + 6 591 c.405C>T c.(403-405)aaC>aaT p.N135N CSF2RA_ENST00000501036.2_Silent_p.N2N|CSF2RA_ENST00000355805.2_Silent_p.N135N|CSF2RA_ENST00000381529.3_Silent_p.N135N|CSF2RA_ENST00000355432.3_Silent_p.N135N|CSF2RA_ENST00000361536.3_Silent_p.N135N|CSF2RA_ENST00000381500.1_Silent_p.N135N|CSF2RA_ENST00000432318.2_Silent_p.N135N|CSF2RA_ENST00000417535.2_Silent_p.N135N|CSF2RA_ENST00000381509.3_Silent_p.N135N P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 135 extracellular region|integral to plasma membrane cytokine receptor activity p.N135N(3) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATTTAATGAACTGTACCTGGG 0.458000 85 139 0 0 0.014410 0 0 NDUFB6 4712 broad.mit.edu 37 9 32570991 32570991 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:32570991C>A ENST00000379847.3 - 2 341 c.240G>T c.(238-240)tgG>tgT p.W80C NDUFB6_ENST00000350021.2_Missense_Mutation_p.W80C NM_002493.4 NP_002484.1 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 80 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.W80F(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 8 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) AATGAATAATCCAGACAGGTA 0.318000 8 22 7.48243e-07 8.99244e-07 0.006214 1 0 STX17 55014 broad.mit.edu 37 9 102722207 102722207 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:102722207C>G ENST00000259400.6 + 5 560 c.424C>G c.(424-426)Cat>Gat p.H142D STX17_ENST00000525640.1_Missense_Mutation_p.H142D|STX17_ENST00000534052.1_Missense_Mutation_p.H142D|STX17_ENST00000525847.1_3'UTR NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 142 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity p.H142D(1) endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AGGAGCATTTCATACTACTGA 0.363000 16 90 0 0 0.004990 0 0 SLC12A2 6558 broad.mit.edu 37 5 127520534 127520534 + Silent SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:127520534T>C ENST00000262461.2 + 26 3678 c.3489T>C c.(3487-3489)gcT>gcC p.A1163A SLC12A2_ENST00000343225.4_Silent_p.A1147A NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1163 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.A1163A(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAAGCACAGCTAATATTATTG 0.289000 3 101 0 0 0.004672 0 0 MERTK 10461 broad.mit.edu 37 2 112687087 112687087 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:112687087A>T ENST00000295408.4 + 2 709 c.452A>T c.(451-453)gAt>gTt p.D151V MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.D151V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 151 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.D151V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TATCCAGATGATGAAGTTACA 0.323000 4 97 0 0 0.009096 0 0 HAO2 51179 broad.mit.edu 37 1 119925620 119925620 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:119925620C>A ENST00000361035.4 + 4 536 c.253C>A c.(253-255)Cct>Act p.P85T HAO2_ENST00000325945.3_Missense_Mutation_p.P72T NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 72 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity p.P72T(1)|p.P72S(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GATCAGTGCCCCTATTTGTAT 0.557000 9 22 2.17888e-05 2.51264e-05 0.006214 1 0 HECTD1 25831 broad.mit.edu 37 14 31598245 31598245 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:31598245G>A ENST00000399332.1 - 25 4820 c.4332C>T c.(4330-4332)tcC>tcT p.S1444S HECTD1_ENST00000553700.1_Silent_p.S1444S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1444 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.S1444S(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGCTTGCACTGGAAGATGACC 0.458000 42 70 0 0 0.010771 0 0 SOX8 30812 broad.mit.edu 37 16 1033796 1033796 + Missense_Mutation SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:1033796A>G ENST00000293894.3 + 2 606 c.491A>G c.(490-492)aAg>aGg p.K164R NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 164 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus p.K164R(1) central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CAGCACAAGAAGGACCACCCC 0.682000 9 29 0 0 0.013537 0 0 LONRF3 79836 broad.mit.edu 37 X 118109472 118109472 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:118109472G>T ENST00000365713.2 + 1 892 c.729G>T c.(727-729)gcG>gcT p.A243A LONRF3_ENST00000304778.7_Silent_p.A243A|LONRF3_ENST00000371628.3_Silent_p.A243A Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 243 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.A243A(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 CAGCGCGAGCGTCGCAACTCC 0.682000 7 9 2.0095e-06 2.3792e-06 0.001984 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232601023 232601023 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:232601023C>A ENST00000366630.1 - 8 2741 c.2383G>T c.(2383-2385)Gaa>Taa p.E795* SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E795* Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 795 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.E795*(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CGAAACTTTTCTGATTTATGG 0.478000 36 137 9.73076e-26 1.74106e-25 0.006999 1 0 OPN4 94233 broad.mit.edu 37 10 88419155 88419155 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:88419155T>C ENST00000372071.2 + 6 990 c.763T>C c.(763-765)Ttc>Ctc p.F255L OPN4_ENST00000241891.5_Missense_Mutation_p.F244L NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 244 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity p.F255L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CTGCTTCGTGTTCTTCCTCCC 0.587000 19 44 0 0 0.010504 0 0 CFB 629 broad.mit.edu 37 6 31901713 31901713 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:31901713G>T ENST00000456570.1 + 4 555 c.500G>T c.(499-501)gGg>gTg p.G167V C2_ENST00000299367.5_Missense_Mutation_p.G229V|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.G229V|C2_ENST00000452323.2_Missense_Mutation_p.G106V|C2_ENST00000442278.2_Missense_Mutation_p.G97V|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.G167V P00751 CFAB_HUMAN complement factor B 236 Sushi 3. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity p.G229V(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CACATGCTTGGGGCCACCAAT 0.602000 19 37 1.50039e-11 2.07867e-11 0.012319 1 0 LTBP1 4052 broad.mit.edu 37 2 33411922 33411922 + Splice_Site SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:33411922G>A ENST00000404816.2 + 6 1554 c.e6-1 LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.?(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TTCCCTTTTAGTAATTTGCCA 0.418000 10 21 0 0 0.008291 0 0 HECW2 57520 broad.mit.edu 37 2 197183409 197183409 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:197183409C>A ENST00000260983.2 - 9 2387 c.2205G>T c.(2203-2205)gaG>gaT p.E735D HECW2_ENST00000409111.1_Missense_Mutation_p.E379D NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 735 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.E735D(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GCTGCCAGACCTCCCCCAGCT 0.652000 15 32 9.16793e-09 1.17621e-08 0.004990 1 0 AGK 55750 broad.mit.edu 37 7 141352708 141352708 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:141352708C>G ENST00000355413.4 + 16 1513 c.1253C>G c.(1252-1254)aCa>aGa p.T418R RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Missense_Mutation_p.T390R NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 418 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity p.T418R(1) breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) CAGATGCTCACAAGCCCCACC 0.542000 22 31 0 0 0.012319 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131785625 131785625 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:131785625G>T ENST00000392953.3 + 5 1054 c.535G>T c.(535-537)Gga>Tga p.G179* ARHGEF4_ENST00000326016.5_Nonsense_Mutation_p.G179*|ARHGEF4_ENST00000355771.3_Nonsense_Mutation_p.G108*|ARHGEF4_ENST00000409303.1_Nonsense_Mutation_p.G179*|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Nonsense_Mutation_p.G179* NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 179 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity p.G179L(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CAGCCACCCTGGAGGGGGTGG 0.622000 9 15 6.40141e-05 7.23559e-05 0.010729 1 0 VWCE 220001 broad.mit.edu 37 11 61053874 61053874 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:61053874G>T ENST00000335613.5 - 5 839 c.453C>A c.(451-453)tgC>tgA p.C151* NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 151 EGF-like 2; calcium-binding (Potential). extracellular region calcium ion binding p.C151*(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGTGGCCCTCGCAGGAGGAGG 0.552000 31 66 1.08312e-15 1.67506e-15 0.009535 1 0 MYH2 4620 broad.mit.edu 37 17 10432732 10432732 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:10432732C>G ENST00000245503.5 - 25 3568 c.3184G>C c.(3184-3186)Gag>Cag p.E1062Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1062Q NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1062 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E1062Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AAGTCACCCTCAAGTTTCCTC 0.378000 33 51 0 0 0.012213 0 0 LCTL 197021 broad.mit.edu 37 15 66845330 66845330 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:66845330A>T ENST00000341509.5 - 9 1320 c.1189T>A c.(1189-1191)Ttt>Att p.F397I LCTL_ENST00000537670.1_Missense_Mutation_p.F224I NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 397 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.F397I(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACCTGAGCAAAGTTAAGGAGC 0.423000 30 82 0 0 0.013726 0 0 PSKH2 85481 broad.mit.edu 37 8 87060875 87060875 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:87060875G>T ENST00000276616.2 - 3 1048 c.974C>A c.(973-975)gCa>gAa p.A325E NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 325 ATP binding|protein serine/threonine kinase activity p.A325E(1) NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GGAAGACCCTGCAGCCATGGT 0.542000 33 60 6.19805e-25 1.10403e-24 0.005524 1 0 ABCA8 10351 broad.mit.edu 37 17 66933232 66933232 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:66933232T>A ENST00000269080.2 - 4 463 c.326A>T c.(325-327)gAt>gTt p.D109V ABCA8_ENST00000586539.1_Missense_Mutation_p.D109V|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D109V(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ACTTTCCTCATCTGGCAGTCC 0.338000 8 47 0 0 0.004482 0 0 CETN1 1068 broad.mit.edu 37 18 580598 580598 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:580598C>A ENST00000327228.3 + 1 232 c.190C>A c.(190-192)Ccc>Acc p.P64T NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 64 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.P64T(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGGCTTCGAACCCAGGAAGGA 0.552000 9 21 0.000274275 0.000303988 0.004482 1 0 NECAB1 64168 broad.mit.edu 37 8 91937844 91937844 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:91937844C>T ENST00000417640.2 + 7 913 c.576C>T c.(574-576)agC>agT p.S192S NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 192 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity p.S192S(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GACACAACAGCTTCTCCCCAA 0.458000 10 17 0 0 0.010729 0 0 ZNF512B 57473 broad.mit.edu 37 20 62593643 62593643 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:62593643C>A ENST00000450537.1 - 14 2308 c.2248G>T c.(2248-2250)Gtc>Ttc p.V750F ZNF512B_ENST00000369888.1_Missense_Mutation_p.V750F|ZNF512B_ENST00000217130.3_Missense_Mutation_p.V750F Q96KM6 Z512B_HUMAN zinc finger protein 512B 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V750F(1) NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGACAGTTGACGTGGCCTTTC 0.622000 25 36 1.16021e-09 1.5278e-09 0.007291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768318 77768318 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:77768318C>A ENST00000521891.2 + 10 9609 c.9161C>A c.(9160-9162)aCg>aAg p.T3054K ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3009K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3009K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3028K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3009 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T3038K(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTCCGACCACGGTTCGGCAG 0.507000 HNSCC(33;0.089) 37 72 5.04308e-16 7.922e-16 0.006230 1 0 OR1L3 26735 broad.mit.edu 37 9 125437681 125437681 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:125437681C>T ENST00000304820.2 + 1 367 c.273C>T c.(271-273)acC>acT p.T91T NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T91N(1) breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 AGAAAAAGACCATTTCCTATG 0.408000 49 183 0 0 0.014410 0 0 PSG6 5675 broad.mit.edu 37 19 43411928 43411928 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:43411928T>A ENST00000187910.2 - 4 850 c.785A>T c.(784-786)gAa>gTa p.E262V PSG6_ENST00000292125.2_Missense_Mutation_p.E262V|PSG6_ENST00000402603.4_Intron NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 p.E262V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ACTCTTAGGTTCACAGGTGAA 0.483000 100 177 0 0 0.014410 0 0 SPATA6 54558 broad.mit.edu 37 1 48865286 48865286 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:48865286C>A ENST00000371847.3 - 7 681 c.517G>T c.(517-519)Gaa>Taa p.E173* SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E101*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E173* NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 173 cell differentiation|multicellular organismal development|spermatogenesis extracellular region p.E173*(1) breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TGTGATTTTTCAACTGGAGCC 0.303000 23 50 1.64293e-13 2.43692e-13 0.003330 1 0 CHRNB3 1142 broad.mit.edu 37 8 42586930 42586930 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:42586930C>T ENST00000289957.2 + 5 608 c.480C>T c.(478-480)ttC>ttT p.F160F NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 160 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.F160F(1) endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCACGTTTTTCCCGTTCGACC 0.493000 6 19 0 0 0.001984 0 0 PTPRT 11122 broad.mit.edu 37 20 40944583 40944583 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:40944583G>T ENST00000373198.3 - 12 2154 c.1919C>A c.(1918-1920)gCt>gAt p.A640D PTPRT_ENST00000373201.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373187.1_Missense_Mutation_p.A640D|PTPRT_ENST00000356100.2_Missense_Mutation_p.A640D|PTPRT_ENST00000373184.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373190.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373193.3_Missense_Mutation_p.A640D NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 640 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.A640D(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AATAATGTCAGCTGCCCTCCG 0.512000 24 58 3.28513e-13 4.78382e-13 0.003954 1 0 TDRD3 81550 broad.mit.edu 37 13 61102923 61102923 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:61102923C>T ENST00000196169.3 + 11 2073 c.1285C>T c.(1285-1287)Cct>Tct p.P429S TDRD3_ENST00000377881.2_Missense_Mutation_p.P429S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P429S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P522S NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 429 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity p.P429S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AAATCCACTTCCTCAAGGATC 0.343000 5 76 0 0 0.001984 0 0 FAT3 120114 broad.mit.edu 37 11 92531124 92531124 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:92531124C>A ENST00000298047.6 + 9 4962 c.4945C>A c.(4945-4947)Ccg>Acg p.P1649T FAT3_ENST00000525166.1_Missense_Mutation_p.P1499T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1649T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1649 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P1649T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCAGGGATCCCCGCCAATGTC 0.473000 TCGA Ovarian(4;0.039) 40 46 1.96642e-18 3.32458e-18 0.006999 1 0 ZBED6CL 113763 broad.mit.edu 37 7 150027823 150027823 + Silent SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:150027823T>C ENST00000343855.4 + 1 886 c.330T>C c.(328-330)atT>atC p.I110I LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like p.I110I(1) TGAAGGAGATTAGAGTGTCTG 0.582000 24 47 0 0 0.002780 0 0 FGA 2243 broad.mit.edu 37 4 155507713 155507713 + Missense_Mutation SNP T T G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:155507713T>G ENST00000302053.3 - 5 946 c.868A>C c.(868-870)Agc>Cgc p.S290R FGA_ENST00000403106.3_Missense_Mutation_p.S290R NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 290 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S290R(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCAGCACTGCTAGGGTTCCTG 0.552000 39 83 0 0 0.006999 0 0 MSGN1 343930 broad.mit.edu 37 2 17997987 17997987 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:17997987C>T ENST00000281047.3 + 1 225 c.202C>T c.(202-204)Ccc>Tcc p.P68S NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 68 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.P68S(1) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGCTGGGCTGCCCTGTGAGCA 0.617000 31 33 0 0 0.006999 0 0 RIOK2 55781 broad.mit.edu 37 5 96503657 96503657 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:96503657C>A ENST00000283109.3 - 8 979 c.911G>T c.(910-912)gGc>gTc p.G304V CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.G304V NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 304 Protein kinase. ATP binding|protein serine/threonine kinase activity p.G304V(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CTTTGTGTAGCCACTGGCAGA 0.378000 29 50 2.65835e-16 4.22582e-16 0.007291 1 0 DCK 1633 broad.mit.edu 37 4 71889280 71889280 + Missense_Mutation SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:71889280A>G ENST00000286648.5 + 4 803 c.406A>G c.(406-408)Att>Gtt p.I136V DCK_ENST00000504730.1_Missense_Mutation_p.I136V|DCK_ENST00000504952.1_Missense_Mutation_p.I136V NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 136 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity p.I136V(1) endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TTTTAGGTATATTTTTGCATC 0.323000 16 26 0 0 0.004007 0 0 CCDC108 255101 broad.mit.edu 37 2 219896377 219896377 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:219896377C>A ENST00000341552.5 - 7 732 c.649G>T c.(649-651)Gag>Tag p.E217* CCDC108_ENST00000453220.1_Nonsense_Mutation_p.E217*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.E217*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.E152*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.E206* NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 217 integral to membrane structural molecule activity p.E217*(1) 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) TCCATGTACTCCTTCTGCAGT 0.637000 29 59 1.80694e-10 2.45228e-10 0.009535 1 0 ALPK1 80216 broad.mit.edu 37 4 113351658 113351658 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:113351658G>T ENST00000458497.1 + 11 1234 c.955G>T c.(955-957)Gaa>Taa p.E319* ALPK1_ENST00000177648.9_Nonsense_Mutation_p.E319*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.E241* NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 319 ATP binding|protein serine/threonine kinase activity p.E319*(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CTGTCCTCCAGAATTGAAAAA 0.408000 33 63 6.53348e-20 1.11882e-19 0.003755 1 0 NBEAL2 23218 broad.mit.edu 37 3 47032756 47032756 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:47032756C>T ENST00000450053.3 + 7 783 c.604C>T c.(604-606)Ctc>Ttc p.L202F NBEAL2_ENST00000292309.5_Missense_Mutation_p.L202F|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 202 binding p.L202F(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCTGTTACGTCTCATCCACCT 0.572000 4 8 0 0 0.000602 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617359 111617359 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:111617359C>A ENST00000374667.3 - 1 1880 c.852G>T c.(850-852)ccG>ccT p.P284P NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 284 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton p.P284P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTTTGCCGTCCGGGAGCTCGT 0.642000 35 76 2.42023e-17 3.9255e-17 0.003271 1 0 BAGE2 85319 broad.mit.edu 37 21 11038727 11038727 + RNA SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr21:11038727C>A ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATCACCCTACCTGTTTGGAC 0.373000 6 124 7.48243e-07 8.99244e-07 0.006214 1 0 OR5F1 338674 broad.mit.edu 37 11 55761971 55761971 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:55761971C>A ENST00000278409.1 - 1 130 c.131G>T c.(130-132)gGg>gTg p.G44V NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G44V(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GAGGATCATCCCGAGATTTCC 0.428000 19 36 1.00905e-13 1.50228e-13 0.008871 1 0 COL27A1 85301 broad.mit.edu 37 9 116931081 116931081 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:116931081G>T ENST00000356083.3 + 3 1637 c.1246G>T c.(1246-1248)Gcc>Tcc p.A416S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 416 Pro-rich. cell adhesion extracellular matrix structural constituent p.A416S(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TCCAGTTCCTGCCAGAGTCTC 0.607000 131 114 9.66843e-69 1.837e-68 0.014410 1 0 CCDC141 285025 broad.mit.edu 37 2 179702359 179702359 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:179702359A>T ENST00000420890.2 - 23 3704 c.3587T>A c.(3586-3588)cTg>cAg p.L1196Q CCDC141_ENST00000295723.5_Missense_Mutation_p.L621Q|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 621 protein binding p.L1196Q(1)|p.L621Q(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTCTTCAGGCAGGAGCAGGTC 0.557000 33 56 0 0 0.013726 0 0 IPO13 9670 broad.mit.edu 37 1 44415697 44415697 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:44415697G>C ENST00000372343.3 + 2 1355 c.693G>C c.(691-693)caG>caC p.Q231H NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 231 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity p.Q231P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCTGGGTGCAGCTGGAGGTGC 0.617000 7 13 0 0 0.001984 0 0 MYLK 4638 broad.mit.edu 37 3 123337559 123337559 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:123337559G>T ENST00000360772.3 - 33 5652 c.5274C>A c.(5272-5274)ccC>ccA p.P1758P MYLK_ENST00000418370.2_Silent_p.P49P|MYLK_ENST00000583087.1_Silent_p.P49P|MYLK_ENST00000475616.1_Silent_p.P1809P|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Silent_p.P609P|MYLK_ENST00000346322.5_Silent_p.P1740P|MYLK_ENST00000359169.1_Silent_p.P1758P|MYLK_ENST00000578202.1_Silent_p.P48P|MYLK_ENST00000360304.3_Silent_p.P1809P|MYLK-AS1_ENST00000485162.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1809 Calmodulin-binding. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.P1809P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TAGAGAAATAGGGTTTTACAT 0.438000 27 57 1.17739e-12 1.69596e-12 0.005443 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140773331 140773331 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:140773331G>T ENST00000398604.2 + 1 951 c.951G>T c.(949-951)atG>atT p.M317I PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_032088.1 NP_114477.1 p.M317I(1) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTATGAAATGGAAATACAAG 0.363000 38 107 1.15505e-17 1.9044e-17 0.009718 1 0 PHLDA1 22822 broad.mit.edu 37 12 76425198 76425198 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:76425198G>A ENST00000266671.5 - 1 2514 c.324C>T c.(322-324)cgC>cgT p.R108R PHLDA1_ENST00000602540.1_5'UTR Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 108 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding p.R108R(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) CCTCGCCCCAGCGGCTCCCAC 0.766000 3 1 0 0 0.004672 0 0 ZNF229 7772 broad.mit.edu 37 19 44932853 44932853 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:44932853G>T ENST00000291187.4 - 6 2407 c.2085C>A c.(2083-2085)acC>acA p.T695T ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.T701T NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T701T(1) breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) ACCTCTGGTGGGTGCGAAGAT 0.483000 24 71 5.35356e-11 7.29034e-11 0.002780 1 0 FAM83D 81610 broad.mit.edu 37 20 37580963 37580963 + Silent SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:37580963T>C ENST00000217429.4 + 4 1689 c.1648T>C c.(1648-1650)Ttg>Ctg p.L550L NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 520 cell division|mitosis cytoplasm|spindle pole p.L550L(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GGAACTGTACTTGAGTGACTC 0.532000 19 36 0 0 0.006122 0 0 ZEB2 9839 broad.mit.edu 37 2 145274906 145274906 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:145274906C>A ENST00000558170.2 - 2 1196 c.12G>T c.(10-12)ccG>ccT p.P4P ZEB2_ENST00000470879.1_Silent_p.P4P|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000465070.1_Silent_p.P4P|ZEB2_ENST00000409487.3_Silent_p.P4P|ZEB2_ENST00000539609.3_Silent_p.P4P|ZEB2_ENST00000462355.1_Silent_p.P4P|ZEB2_ENST00000303660.4_Silent_p.P4P NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 4 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.P4P(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CCGCCATGATCGGCTGCTTCA 0.577000 20 35 2.37509e-13 3.49691e-13 0.010504 1 0 PDYN 5173 broad.mit.edu 37 20 1961380 1961380 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:1961380C>A ENST00000217305.2 - 4 579 c.354G>T c.(352-354)aaG>aaT p.K118N RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.K118N|PDYN_ENST00000539905.1_Missense_Mutation_p.K118N NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 118 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.K118_E119>N*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGTGTTCTCCTTTGTTGAGA 0.552000 37 70 1.60099e-16 2.55517e-16 0.004878 1 0 MMP21 118856 broad.mit.edu 37 10 127458921 127458921 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:127458921C>T ENST00000368808.3 - 5 1218 c.1219G>A c.(1219-1221)Gaa>Aaa p.E407K NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 407 Hemopexin-like 2. proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.E407K(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAATAACGTTCATCTCTTTTC 0.438000 57 101 0 0 0.014410 0 0 APAF1 317 broad.mit.edu 37 12 99053024 99053024 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:99053024C>A ENST00000357310.1 + 5 1190 c.613C>A c.(613-615)Cgg>Agg p.R205R APAF1_ENST00000551964.1_Silent_p.R205R|APAF1_ENST00000547045.1_Silent_p.R205R|APAF1_ENST00000359972.2_Silent_p.R194R|APAF1_ENST00000550527.1_Silent_p.R194R|APAF1_ENST00000339433.3_Silent_p.R205R|APAF1_ENST00000333991.1_Silent_p.R205R|APAF1_ENST00000549007.1_Silent_p.R205R|APAF1_ENST00000552268.1_Silent_p.R205R NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 205 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding p.R205R(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TCTTTGCACACGGTTGGATCA 0.473000 41 82 2.37825e-27 4.29376e-27 0.010771 1 0 SDF4 51150 broad.mit.edu 37 1 1154154 1154154 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:1154154T>C ENST00000263741.7 - 5 1023 c.731A>G c.(730-732)gAc>gGc p.D244G SDF4_ENST00000360001.6_Missense_Mutation_p.D244G NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 244 EF-hand 4. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding p.D244G(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CTCACCCAGGTCCCGGACGAT 0.692000 11 80 0 0 0.008291 0 0 OR10K2 391107 broad.mit.edu 37 1 158390486 158390486 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:158390486G>C ENST00000314902.2 - 1 170 c.171C>G c.(169-171)atC>atG p.I57M NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I57M(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGTACATGGGGATATGAAGGG 0.488000 34 102 0 0 0.004289 0 0 ATG14 22863 broad.mit.edu 37 14 55836410 55836410 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:55836410C>T ENST00000247178.5 - 10 1441 c.1406G>A c.(1405-1407)aGt>aAt p.S469N NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 469 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding p.S469N(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CCCACCTGCACTGCTGCTCGC 0.552000 37 58 0 0 0.004289 0 0 MUSK 4593 broad.mit.edu 37 9 113530298 113530298 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:113530298G>A ENST00000416899.2 + 8 1245 c.1119G>A c.(1117-1119)ttG>ttA p.L373L MUSK_ENST00000189978.5_Silent_p.L373L|MUSK_ENST00000374448.4_Silent_p.L373L O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 373 FZ. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.L373L(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CTGAGGCTTTGTTGTGTAACC 0.507000 53 71 0 0 0.014410 0 0 REG1B 5968 broad.mit.edu 37 2 79314024 79314024 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:79314024G>T ENST00000305089.3 - 3 177 c.97C>A c.(97-99)Cga>Aga p.R33R NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 33 cell proliferation extracellular region sugar binding p.R33*(1)|p.R33R(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CAGCTGATTCGGGGATTAGGC 0.493000 62 123 3.31162e-33 6.11729e-33 0.014410 1 0 ACTR3B 57180 broad.mit.edu 37 7 152550643 152550643 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:152550643G>T ENST00000256001.8 + 11 1276 c.1142G>T c.(1141-1143)gGc>gTc p.G381V ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.G293V|ACTR3B_ENST00000397282.2_Missense_Mutation_p.G293V NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 381 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding p.G381V(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) TGGTTCGGAGGCTCCATGCTG 0.572000 6 16 1.06961e-07 1.33785e-07 0.003080 1 0 PLIN4 729359 broad.mit.edu 37 19 4504673 4504673 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:4504673G>T ENST00000301286.3 - 6 3871 c.3872C>A c.(3871-3873)gCg>gAg p.A1291E NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1291 lipid particle|plasma membrane p.A1219E(1)|p.A1291E(1) NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GCTGTGCCGCGCCCGCCCCAC 0.701000 5 10 3.59834e-05 4.13757e-05 0.001168 1 0 AHCTF1 25909 broad.mit.edu 37 1 247014498 247014498 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:247014498C>A ENST00000366508.1 - 33 5051 c.4915G>T c.(4915-4917)Gag>Tag p.E1639* AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E1613*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.E1604* Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1604 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.E1604*(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCACCTGGCTCAACTTCTCCT 0.408000 21 83 3.08376e-08 3.91854e-08 0.003330 1 0 SLC44A5 204962 broad.mit.edu 37 1 75685529 75685529 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:75685529G>C ENST00000370855.5 - 15 1247 c.1134C>G c.(1132-1134)ttC>ttG p.F378L SLC44A5_ENST00000535611.1_Missense_Mutation_p.F248L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F378L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 378 integral to membrane|plasma membrane choline transmembrane transporter activity p.F378L(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGAGCAAAATGAAAGTTAAAG 0.363000 7 16 0 0 0.004482 0 0 FPR1 2357 broad.mit.edu 37 19 52249723 52249723 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:52249723G>T ENST00000595042.1 - 3 666 c.525C>A c.(523-525)gcC>gcA p.A175A FPR1_ENST00000304748.4_Silent_p.A175A NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 175 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity p.A175A(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) TAAAAGTGCAGGCTACTGTCC 0.507000 18 48 1.56452e-12 2.22945e-12 0.007413 1 0 BUD13 84811 broad.mit.edu 37 11 116640920 116640920 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:116640920A>T ENST00000260210.4 - 2 185 c.162T>A c.(160-162)gaT>gaA p.D54E BUD13_ENST00000375445.3_Missense_Mutation_p.D54E NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 54 p.D54E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) AGCTCACATCATCATCCACAA 0.378000 21 47 0 0 0.014323 0 0 GFRA1 2674 broad.mit.edu 37 10 117849335 117849335 + Missense_Mutation SNP G G A rs147029195 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:117849335G>A ENST00000439649.3 - 8 1466 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W GFRA1_ENST00000544592.1_Missense_Mutation_p.R251W|GFRA1_ENST00000369236.1_Missense_Mutation_p.R367W|GFRA1_ENST00000355422.6_Missense_Mutation_p.R372W NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 372 Poly-Thr. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity p.R367W(1) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TTCTTAACCCGGAGGGCAGTG 0.542000 5 60 0 0 0.000602 0 0 CPZ 8532 broad.mit.edu 37 4 8608492 8608492 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:8608492G>T ENST00000382480.2 + 6 1324 c.524G>T c.(523-525)gGg>gTg p.G175V CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.G312V|CPZ_ENST00000315782.6_Missense_Mutation_p.G301V NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 312 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.G312V(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGACGAGCGGGAGGCAGAAC 0.652000 19 54 1.56452e-12 2.22945e-12 0.007413 1 0 PADI1 29943 broad.mit.edu 37 1 17552330 17552330 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:17552330G>T ENST00000375471.4 + 5 525 c.433G>T c.(433-435)Ggc>Tgc p.G145C NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 145 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.G145C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGGCCCTGAGGGCTATGGGGC 0.602000 33 83 3.03874e-20 5.24873e-20 0.003271 1 0 DACH2 117154 broad.mit.edu 37 X 85969642 85969642 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:85969642C>A ENST00000373131.1 + 5 1147 c.984C>A c.(982-984)aaC>aaA p.N328K DACH2_ENST00000373125.4_Missense_Mutation_p.N341K|DACH2_ENST00000510272.1_Missense_Mutation_p.N122K|DACH2_ENST00000508860.1_Missense_Mutation_p.N174K NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.N341K(1)|p.N328K(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 ATCAGATGAACCATCTCAATA 0.453000 47 74 3.05275e-18 5.13943e-18 0.013114 1 0 MTL5 9633 broad.mit.edu 37 11 68517945 68517945 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:68517945G>T ENST00000443940.2 - 2 270 c.184C>A c.(184-186)Ccc>Acc p.P62T MTL5_ENST00000544963.1_Missense_Mutation_p.P62T|MTL5_ENST00000255087.5_Missense_Mutation_p.P62T Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 62 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding p.P62T(1) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGCAGGACGGGTTCCTTGGGG 0.687000 6 8 5.9392e-07 7.20286e-07 0.001168 1 0 TBCE 6905 broad.mit.edu 37 1 235605137 235605137 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:235605137G>T ENST00000543662.1 + 15 1538 c.1432G>T c.(1432-1434)Gca>Tca p.A478S TBCE_ENST00000366601.3_Missense_Mutation_p.A427S|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.A427S Q15813 TBCE_HUMAN tubulin folding cofactor E 427 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding p.A427S(1) NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AGAATATGGTGCACCTGAAGA 0.338000 11 54 0.00244969 0.00263458 0.002450 1 0 PBX4 80714 broad.mit.edu 37 19 19681572 19681572 + Silent SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:19681572C>G ENST00000251203.8 - 3 550 c.264G>C c.(262-264)ctG>ctC p.L88L NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 88 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L88L(1) large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CCTCAGCCAGCAGCATGTTAT 0.582000 18 30 0 0 0.006122 0 0 FSTL5 56884 broad.mit.edu 37 4 162402195 162402195 + Missense_Mutation SNP C C A rs143585706 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:162402195C>A ENST00000306100.5 - 13 2021 c.1585G>T c.(1585-1587)Gtg>Ttg p.V529L FSTL5_ENST00000427802.2_Missense_Mutation_p.V519L|FSTL5_ENST00000379164.4_Missense_Mutation_p.V528L|FSTL5_ENST00000536695.1_Missense_Mutation_p.V528L NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 529 extracellular region calcium ion binding p.V529L(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGGGACTGCACATCAACAATA 0.328000 24 55 2.89027e-11 3.99037e-11 0.014323 1 0 CSMD1 64478 broad.mit.edu 37 8 3165998 3165998 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:3165998G>T ENST00000602557.1 - 25 4217 c.3662C>A c.(3661-3663)cCg>cAg p.P1221Q CSMD1_ENST00000537824.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1221Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1221Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1221Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1221 Sushi 7. integral to membrane p.P949Q(1)|p.P1220Q(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGGATGCCCGGATCCTCACA 0.483000 9 13 0.00621372 0.00662907 0.006214 1 0 MISP 126353 broad.mit.edu 37 19 763550 763550 + Missense_Mutation SNP G G C rs143887834 byFrequency TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:763550G>C ENST00000215582.6 + 5 2103 c.2000G>C c.(1999-2001)cGc>cCc p.R667P NM_173481.2 NP_775752.1 mitotic spindle positioning p.R667P(1) ATGGCAGAGCGCTGGGAATCC 0.632000 4 27 0 0 0.009096 0 0 ABAT 18 broad.mit.edu 37 16 8844366 8844366 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:8844366C>G ENST00000396600.2 + 5 1224 c.286C>G c.(286-288)Ctt>Gtt p.L96V ABAT_ENST00000268251.8_Missense_Mutation_p.L96V|ABAT_ENST00000567812.1_Missense_Mutation_p.L111V|ABAT_ENST00000425191.2_Missense_Mutation_p.L96V|ABAT_ENST00000569156.1_Missense_Mutation_p.L96V NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 96 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding p.L96V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) AATGCTGGATCTTTATTCCCA 0.468000 5 242 0 0 0.000602 0 0 TUBB4A 10382 broad.mit.edu 37 19 6501382 6501382 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:6501382G>T ENST00000601152.1 - 3 242 c.117C>A c.(115-117)tgC>tgA p.C39* TUBB4A_ENST00000596926.1_Missense_Mutation_p.L65M|TUBB4A_ENST00000598006.1_Nonsense_Mutation_p.C50*|TUBB4A_ENST00000540257.1_Missense_Mutation_p.L65M|TUBB4A_ENST00000264071.2_Missense_Mutation_p.L65M P04350 TBB4_HUMAN tubulin, beta 4A class IVa 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.L65M(1) AGGTCCACCAGCACCGCTCTG 0.607000 10 21 7.03913e-09 9.06004e-09 0.013537 1 0 ZBTB20 26137 broad.mit.edu 37 3 114070511 114070511 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:114070511G>A ENST00000462705.1 - 11 1016 c.195C>T c.(193-195)agC>agT p.S65S ZBTB20_ENST00000357258.3_Silent_p.S65S|ZBTB20_ENST00000481632.1_Silent_p.S65S|ZBTB20_ENST00000464560.1_Silent_p.S65S|ZBTB20_ENST00000471418.1_Silent_p.S65S|ZBTB20_ENST00000474710.1_Silent_p.S138S|ZBTB20_ENST00000393785.2_Silent_p.S65S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S65S(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TCTCGATGTCGCTGTAGCCAA 0.612000 3 23 0 0 0.004672 0 0 DNAH8 1769 broad.mit.edu 37 6 38775422 38775422 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:38775422T>A ENST00000359357.3 + 22 2790 c.2536T>A c.(2536-2538)Tta>Ata p.L846I DNAH8_ENST00000441566.1_Missense_Mutation_p.L846I|DNAH8_ENST00000449981.2_Missense_Mutation_p.L1063I dynein, axonemal, heavy chain 8 p.L846I(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTCTCATCAATTACTAGACAG 0.348000 20 70 0 0 0.012319 0 0 TIMD4 91937 broad.mit.edu 37 5 156353276 156353276 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:156353276G>T ENST00000274532.2 - 6 948 c.892C>A c.(892-894)Cag>Aag p.Q298K TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Missense_Mutation_p.Q270K NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 298 integral to membrane p.Q298K(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTTTACCTGTCCTGTTTTT 0.393000 20 42 4.35082e-09 5.63629e-09 0.010504 1 0 OR2G6 391211 broad.mit.edu 37 1 248685105 248685105 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:248685105C>A ENST00000343414.4 + 1 190 c.158C>A c.(157-159)tCc>tAc p.S53Y NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S53Y(2)|p.S53*(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTCTGGACTCCAGACTCCAC 0.483000 54 48 9.59835e-30 1.74874e-29 0.014410 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140724542 140724542 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:140724542C>G ENST00000253812.6 + 1 942 c.942C>G c.(940-942)ttC>ttG p.F314L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.F314L(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCATGTTCTATGAAATTA 0.373000 3 52 0 0 0.004672 0 0 PAX2 5076 broad.mit.edu 37 10 102509565 102509565 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:102509565G>C ENST00000370296.2 + 2 656 c.106G>C c.(106-108)Gtg>Ctg p.V36L PAX2_ENST00000428433.1_Missense_Mutation_p.V36L|PAX2_ENST00000361791.3_Missense_Mutation_p.V36L|PAX2_ENST00000556085.1_Missense_Mutation_p.V35L|PAX2_ENST00000355243.3_Missense_Mutation_p.V36L|PAX2_ENST00000553492.1_Intron Q02962 PAX2_HUMAN paired box 2 36 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity p.V36L(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CCTACCCGACGTGGTGAGGCA 0.642000 8 36 0 0 0.010729 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500060 48500060 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:48500060C>T ENST00000396577.3 + 2 359 c.144C>T c.(142-144)acC>acT p.T48T SLC12A1_ENST00000330289.6_Silent_p.T48T|SLC12A1_ENST00000561031.1_Silent_p.T48T|SLC12A1_ENST00000558405.1_Silent_p.T48T|SLC12A1_ENST00000380993.3_Silent_p.T48T NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 48 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.T48T(2) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATGAAGAAACCTCTTTTGGGG 0.428000 12 32 0 0 0.013537 0 0 SCN5A 6331 broad.mit.edu 37 3 38622838 38622838 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:38622838G>A ENST00000413689.1 - 17 3005 c.2812C>T c.(2812-2814)Ctg>Ttg p.L938L SCN5A_ENST00000414099.2_Silent_p.L938L|SCN5A_ENST00000450102.2_Silent_p.L938L|SCN5A_ENST00000455624.2_Silent_p.L938L|SCN5A_ENST00000451551.2_Silent_p.L938L|SCN5A_ENST00000449557.2_Silent_p.L938L|SCN5A_ENST00000443581.1_Silent_p.L938L|SCN5A_ENST00000423572.2_Silent_p.L938L|SCN5A_ENST00000333535.4_Silent_p.L938L|SCN5A_ENST00000425664.1_Silent_p.L938L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 938 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.L938L(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GAGCTGAGCAGCAAGGCCAGG 0.587000 4 15 0 0 0.000602 0 0 OR10A2 341276 broad.mit.edu 37 11 6891570 6891570 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:6891570G>A ENST00000307322.4 + 1 647 c.585G>A c.(583-585)atG>atA p.M195I NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M195I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGGTGGTCATGATCCCCTGCT 0.493000 52 63 0 0 0.014410 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887308 12887308 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:12887308C>G ENST00000535591.1 - 3 744 c.549G>C c.(547-549)caG>caC p.Q183H NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 183 p.Q183H(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATGGGGTAAACTGTGTCAGGA 0.498000 12 357 0 0 0.010729 0 0 C9orf85 138241 broad.mit.edu 37 9 74526699 74526699 + Nonsense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:74526699C>T ENST00000486911.2 + 1 123 c.49C>T c.(49-51)Cag>Tag p.Q17* C9orf85_ENST00000377031.3_Nonsense_Mutation_p.Q17*|C9orf85_ENST00000334731.2_Nonsense_Mutation_p.Q17* Q96MD7 CI085_HUMAN chromosome 9 open reading frame 85 17 p.Q17*(2) kidney(2)|large_intestine(1)|lung(4) 7 TCAGAAGCACCAGAATACGTT 0.522000 47 135 0 0 0.014410 0 0 EPC1 80314 broad.mit.edu 37 10 32581941 32581941 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:32581941C>T ENST00000319778.6 - 4 943 c.641G>A c.(640-642)cGt>cAt p.R214H EPC1_ENST00000263062.8_Missense_Mutation_p.R214H|EPC1_ENST00000375110.2_Missense_Mutation_p.R164H NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 214 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex p.R214H(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TTTTTCAGTACGCCTTCTAAA 0.323000 17 29 0 0 0.002780 0 0 ZNF831 128611 broad.mit.edu 37 20 57767489 57767489 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:57767489C>A ENST00000371030.2 + 1 1415 c.1415C>A c.(1414-1416)tCc>tAc p.S472Y NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 472 intracellular nucleic acid binding|zinc ion binding p.S472Y(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCCGTGCGCTCCACCTGGACG 0.662000 19 30 1.87028e-06 2.22096e-06 0.012319 1 0 ZNF493 284443 broad.mit.edu 37 19 21606023 21606023 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:21606023G>T ENST00000392288.2 + 4 671 c.562G>T c.(562-564)Ggc>Tgc p.G188C CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G60C NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G60C(1)|p.G188C(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TAAAAAATGTGGCAAATCATT 0.299000 31 44 3.80469e-20 6.54342e-20 0.009535 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146741138 146741138 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:146741138G>C ENST00000361727.3 + 4 1058 c.542G>C c.(541-543)tGt>tCt p.C181S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 181 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.C181S(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTTTATGGCTGTTCTTACTGT 0.353000 HNSCC(39;0.1) 46 64 0 0 0.014410 0 0 IFITM5 387733 broad.mit.edu 37 11 298710 298710 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:298710G>A ENST00000382614.2 - 2 225 c.190C>T c.(190-192)Cga>Tga p.R64* NM_001025295.1 NP_001020466.1 A6NNB3 IFM5_HUMAN interferon induced transmembrane protein 5 64 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane p.R64*(1) lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) TTCTGATCTCGGGCCTGCAGA 0.652000 9 13 0 0 0.004482 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115000 27115000 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:27115000G>A ENST00000377459.1 + 1 140 c.93G>A c.(91-93)gtG>gtA p.V31V NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 31 nucleosome assembly nucleosome|nucleus DNA binding p.V31V(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 TGGGCCGAGTGCACCGCCTGC 0.647000 20 46 0 0 0.008871 0 0 DSC1 1823 broad.mit.edu 37 18 28711658 28711658 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:28711658C>G ENST00000257197.3 - 15 2647 c.2386G>C c.(2386-2388)Gga>Cga p.G796R RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G796R NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 796 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.G796R(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GTCTGATGTCCACCTCCTTTG 0.517000 38 85 0 0 0.005524 0 0 FCHO1 23149 broad.mit.edu 37 19 17895735 17895735 + Splice_Site SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:17895735T>A ENST00000594202.1 + 26 2705 c.e26+2 FCHO1_ENST00000596536.1_Splice_Site|FCHO1_ENST00000600676.1_Splice_Site|FCHO1_ENST00000539407.1_Splice_Site|FCHO1_ENST00000596951.1_Splice_Site|FCHO1_ENST00000252771.7_Splice_Site|FCHO1_ENST00000595033.1_Splice_Site|FCHO1_ENST00000597512.1_Splice_Site|FCHO1_ENST00000389133.4_Splice_Site NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 p.?(1) NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCCACCTGGTGAGGGCTTGC 0.627000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 26 0 0 0.004990 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175047 207175047 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:207175047G>T ENST00000374423.3 + 5 6181 c.5795G>T c.(5794-5796)cGt>cTt p.R1932L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1932 nucleic acid binding|zinc ion binding p.R1932L(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAAAAGGGGCGTGTGGCTTCT 0.433000 22 47 4.26978e-12 5.99874e-12 0.003330 1 0 ALDH3A1 218 broad.mit.edu 37 17 19645887 19645887 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:19645887C>T ENST00000457500.2 - 3 780 c.451G>A c.(451-453)Gct>Act p.A151T ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A151T|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A78T|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A151T|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A151T NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 151 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity p.A151T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) ATGATGGTAGCCAGCAGGCTC 0.607000 5 75 0 0 0.001984 0 0 PTPRK 5796 broad.mit.edu 37 6 128307001 128307001 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:128307001C>A ENST00000368227.3 - 23 3533 c.3167G>T c.(3166-3168)cGt>cTt p.R1056L PTPRK_ENST00000368210.3_Missense_Mutation_p.R1057L|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1038L|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1071L|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1039L|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1061L|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1045L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1038 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.R1039L(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TTTAACTTCACGGATTTCATT 0.433000 27 8 2.12542e-12 3.01794e-12 0.006320 1 0 NAPSA 9476 broad.mit.edu 37 19 50862784 50862784 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:50862784C>A ENST00000253719.2 - 7 1120 c.912G>T c.(910-912)ggG>ggT p.G304G NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 304 proteolysis extracellular region aspartic-type endopeptidase activity p.G304G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) AGGGGATTCCCCCAATGGCTG 0.617000 21 27 6.44725e-10 8.51806e-10 0.014323 1 0 RAD21 5885 broad.mit.edu 37 8 117866674 117866674 + Missense_Mutation SNP A A G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:117866674A>G ENST00000297338.2 - 9 1258 c.971T>C c.(970-972)cTa>cCa p.L324P NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 324 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding p.L324P(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GTCAACAATTAGCTTCCTCTT 0.393000 51 97 0 0 0.014410 0 0 JARID2 3720 broad.mit.edu 37 6 15468781 15468781 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:15468781G>T ENST00000341776.2 + 5 746 c.502G>T c.(502-504)Gcg>Tcg p.A168S JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.A130S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 168 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding p.A168S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGGTTCTCCTGCGCTGCCCAA 0.478000 16 60 0.00074312 0.000810123 0.006122 1 0 SPINK2 6691 broad.mit.edu 37 4 57677865 57677865 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:57677865C>T ENST00000506738.1 - 3 424 c.345G>A c.(343-345)ctG>ctA p.L115L SPINK2_ENST00000248701.4_Silent_p.L65L|SPINK2_ENST00000504762.1_Silent_p.L100L NM_001271718.1 NP_001258647.1 P20155 ISK2_HUMAN serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) 65 extracellular region serine-type endopeptidase inhibitor activity p.L65L(1) kidney(1)|large_intestine(1)|lung(2) 4 Glioma(25;0.08)|all_neural(26;0.181) TTTTCATGCACAGAGTACATT 0.388000 34 64 0 0 0.003271 0 0 MED11 400569 broad.mit.edu 37 17 4635147 4635147 + Silent SNP T T G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:4635147T>G ENST00000293777.5 + 2 218 c.162T>G c.(160-162)gcT>gcG p.A54A MED11_ENST00000575284.1_Silent_p.A54A|MED11_ENST00000573708.1_Silent_p.A54A|RP11-314A20.5_ENST00000570493.2_RNA NM_001001683.2 NP_001001683.1 Q9P086 MED11_HUMAN mediator complex subunit 11 54 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding p.A54A(1) lung(2)|ovary(2) 4 CCTTCACCGCTTCAGTGCAAC 0.627000 OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 41 0 0 0.004672 0 0 TMEM2 23670 broad.mit.edu 37 9 74360174 74360174 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:74360174C>A ENST00000377044.4 - 4 1333 c.794G>T c.(793-795)cGg>cTg p.R265L TMEM2_ENST00000377066.5_Missense_Mutation_p.R265L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 265 integral to membrane p.R265L(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATTGAGGCCCCGGGAAAAGTC 0.507000 12 24 5.16669e-11 7.08422e-11 0.010729 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32894031 32894031 + RNA SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:32894031G>T ENST00000330048.5 - 0 1226 NR_003083.2 GGTAATAGAAGCCCCAGGCCA 0.572000 14 13 7.93312e-07 9.50545e-07 0.002450 1 0 CFH 3075 broad.mit.edu 37 1 196658675 196658675 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:196658675C>A ENST00000367429.4 + 8 1330 c.1090C>A c.(1090-1092)Ccg>Acg p.P364T CFH_ENST00000439155.2_Missense_Mutation_p.P364T|CFH_ENST00000359637.2_Missense_Mutation_p.P300T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 364 Sushi 6. complement activation, alternative pathway extracellular space p.P364T(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTTGAGACTCCGTCAGGAAG 0.403000 31 94 9.65021e-13 1.39508e-12 0.010818 1 0 GPR179 440435 broad.mit.edu 37 17 36484370 36484370 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:36484370C>T ENST00000342292.4 - 11 5102 c.5082G>A c.(5080-5082)gaG>gaA p.E1694E GPR179_ENST00000584976.1_5'UTR NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1694 integral to membrane|plasma membrane G-protein coupled receptor activity p.E1694E(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCAAGTTTTCCTCCACATCCA 0.552000 37 59 0 0 0.004289 0 0 NDUFB6 4712 broad.mit.edu 37 9 32570992 32570992 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:32570992C>A ENST00000379847.3 - 2 340 c.239G>T c.(238-240)tGg>tTg p.W80L NDUFB6_ENST00000350021.2_Missense_Mutation_p.W80L NM_002493.4 NP_002484.1 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 80 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.W80F(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 8 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) ATGAATAATCCAGACAGGTAC 0.318000 7 22 3.09899e-07 3.84005e-07 0.004482 1 0 EPN2 22905 broad.mit.edu 37 17 19216459 19216459 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:19216459G>T ENST00000314728.5 + 7 1498 c.1014G>T c.(1012-1014)atG>atT p.M338I EPN2_ENST00000395626.1_Missense_Mutation_p.M338I|EPN2_ENST00000575595.1_Missense_Mutation_p.M46I|EPN2_ENST00000571254.1_Missense_Mutation_p.M274I|EPN2_ENST00000347697.2_Missense_Mutation_p.M281I|EPN2_ENST00000395618.3_Missense_Mutation_p.M53I|EPN2_ENST00000395620.2_Missense_Mutation_p.M281I NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 338 endocytosis lipid binding p.M338I(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TGGATTTAATGGATGCTCTCC 0.577000 49 78 3.4597e-24 6.1352e-24 0.014410 1 0 ZER1 10444 broad.mit.edu 37 9 131512987 131512987 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:131512987T>A ENST00000291900.2 - 8 1673 c.1267A>T c.(1267-1269)Aat>Tat p.N423Y NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 423 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity p.N423Y(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TACTCGGAATTTGTTAGGTAG 0.552000 48 48 0 0 0.014410 0 0 OR5I1 10798 broad.mit.edu 37 11 55703522 55703522 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:55703522C>T ENST00000301532.3 - 1 354 c.355G>A c.(355-357)Gcc>Acc p.A119T NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A119T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TAGGCCATGGCGGCCAGGATG 0.433000 14 27 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237895442 237895442 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:237895442G>T ENST00000366574.2 + 78 11349 c.11032G>T c.(11032-11034)Gag>Tag p.E3678* RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3662*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3676* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3678 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E3676*(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCTTTAACAGAGAAATGGTA 0.453000 14 42 3.27435e-08 4.13439e-08 0.002450 1 0 SPATA9 83890 broad.mit.edu 37 5 94999696 94999696 + Silent SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:94999696A>T ENST00000274432.8 - 4 576 c.435T>A c.(433-435)acT>acA p.T145T SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 145 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.T145T(1) large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) ATATTATGCTAGTTAAAGCAG 0.274000 6 11 0 0 0.001984 0 0 CMYA5 202333 broad.mit.edu 37 5 79033143 79033143 + Missense_Mutation SNP A A C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:79033143A>C ENST00000446378.2 + 2 8586 c.8555A>C c.(8554-8556)cAg>cCg p.Q2852P NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2852 perinuclear region of cytoplasm p.Q2852P(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CATACTATTCAGACATCTAAA 0.428000 35 87 0 0 0.013114 0 0 ST14 6768 broad.mit.edu 37 11 130068228 130068228 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:130068228G>T ENST00000278742.5 + 13 1903 c.1485G>T c.(1483-1485)acG>acT p.T495T NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 495 LDL-receptor class A 2. proteolysis integral to plasma membrane serine-type endopeptidase activity p.T495T(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) ACCAGTTCACGTGCAAGAACA 0.627000 26 72 3.99451e-17 6.45267e-17 0.009535 1 0 THSD1 55901 broad.mit.edu 37 13 52972283 52972283 + Silent SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:52972283T>A ENST00000349258.4 - 3 649 c.105A>T c.(103-105)gtA>gtT p.V35V THSD1_ENST00000258613.4_Silent_p.V35V|THSD1_ENST00000544466.1_Intron NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 35 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.V35V(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGCTTAGTGCTACATGGCCTG 0.428000 52 102 0 0 0.014410 0 0 STT3A 3703 broad.mit.edu 37 11 125481361 125481361 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:125481361C>T ENST00000392708.4 + 11 1315 c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W STT3A_ENST00000529196.1_Missense_Mutation_p.R386W|STT3A_ENST00000531491.1_Missense_Mutation_p.R294W NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 386 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity p.R386W(1) NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GTCTGATGCCCGGATTTTTAT 0.438000 44 133 0 0 0.014410 0 0 SUSD4 55061 broad.mit.edu 37 1 223536632 223536632 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:223536632G>A ENST00000343846.3 - 1 769 c.136C>T c.(136-138)Cag>Tag p.Q46* SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 46 integral to membrane p.Q46*(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CCCGTGAGCTGTGCAGGGCCG 0.647000 7 10 0 0 0.006214 0 0 CCDC25 55246 broad.mit.edu 37 8 27606050 27606050 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:27606050T>A ENST00000356537.4 - 6 403 c.310A>T c.(310-312)Atg>Ttg p.M104L CCDC25_ENST00000539095.1_Missense_Mutation_p.M36L|CCDC25_ENST00000522915.1_Missense_Mutation_p.M36L|RP11-16P20.3_ENST00000521510.1_RNA NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 104 p.M104L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) CCCACATCCATGTCAGCTGTT 0.483000 47 88 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237765331 237765331 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:237765331C>A ENST00000366574.2 + 35 4920 c.4603C>A c.(4603-4605)Ccg>Acg p.P1535T RYR2_ENST00000542537.1_Missense_Mutation_p.P1519T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1533T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1535 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1533T(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAGGTGGAACCGAGTACAAA 0.313000 10 20 6.40141e-05 7.23559e-05 0.010729 1 0 TAS2R38 5726 broad.mit.edu 37 7 141673320 141673320 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:141673320A>T ENST00000547270.1 - 1 253 c.170T>A c.(169-171)cTg>cAg p.L57Q NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 57 sensory perception of taste integral to membrane G-protein coupled receptor activity p.L57Q(1) NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GAGACACAGCAGCACACAATC 0.502000 21 30 0 0 0.008871 0 0 DSG4 147409 broad.mit.edu 37 18 28983407 28983407 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr18:28983407C>T ENST00000359747.4 + 11 1475 c.1446C>T c.(1444-1446)acC>acT p.T482T RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.T482T|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 482 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.T482T(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTACAGGAACCATATGTATTG 0.393000 10 15 0 0 0.010729 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711741 151711741 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:151711741G>A ENST00000392800.2 + 8 1293 c.1039G>A c.(1039-1041)Gga>Aga p.G347R GALNTL5_ENST00000431418.2_Missense_Mutation_p.G347R NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 347 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.G347R(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CTGGATGTGTGGAGGCCAACT 0.398000 46 75 0 0 0.014410 0 0 CTSA 5476 broad.mit.edu 37 20 44526386 44526386 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:44526386G>A ENST00000372484.3 + 13 1531 c.1249G>A c.(1249-1251)Gta>Ata p.V417I CTSA_ENST00000354880.5_Missense_Mutation_p.V400I|CTSA_ENST00000372459.2_Missense_Mutation_p.V399I|CTSA_ENST00000191018.5_Missense_Mutation_p.V399I NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 399 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity p.V417I(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TAATGGAGATGTAGACATGGC 0.498000 32 74 0 0 0.003271 0 0 VWA2 340706 broad.mit.edu 37 10 116008476 116008476 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:116008476C>T ENST00000603594.1 + 2 325 c.4C>T c.(4-6)Ccc>Tcc p.P2S VWA2_ENST00000392982.3_Missense_Mutation_p.P2S NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 2 extracellular region p.P2S(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) TATCAACATGCCCCCTTTCCT 0.478000 6 83 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9089924 9089924 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:9089924T>A ENST00000397910.4 - 1 2094 c.1891A>T c.(1891-1893)Aca>Tca p.T631S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 631 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T631S(2) 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 GATGATGCTGTGGCTCTGGTG 0.582000 39 59 0 0 0.007835 0 0 KIF6 221458 broad.mit.edu 37 6 39513404 39513404 + Silent SNP A A C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:39513404A>C ENST00000287152.7 - 11 1336 c.1242T>G c.(1240-1242)gtT>gtG p.V414V KIF6_ENST00000538893.1_Silent_p.V414V|KIF6_ENST00000373216.3_Silent_p.V414V|KIF6_ENST00000373215.3_Silent_p.V414V|KIF6_ENST00000373213.4_Silent_p.V253V NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 414 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.V414V(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TATCCGCGCCAACCTCTAATC 0.373000 35 122 0 0 0.003755 0 0 LRP2 4036 broad.mit.edu 37 2 170031733 170031733 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:170031733C>G ENST00000263816.3 - 55 11023 c.10738G>C c.(10738-10740)Gat>Cat p.D3580H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3580 LDL-receptor class A 27. 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.D3580H(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) TCAGACCCATCAGGGCAATTT 0.507000 23 34 0 0 0.006320 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769471 112769471 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:112769471C>T ENST00000390666.3 - 1 1257 c.1066G>A c.(1066-1068)Ggg>Agg p.G356R MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 356 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G356R(1) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TGGGGGGGCCCTTCCTCTGTC 0.592000 13 16 0 0 0.004007 0 0 PIGV 55650 broad.mit.edu 37 1 27120800 27120800 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:27120800C>T ENST00000374145.1 + 3 957 c.275C>T c.(274-276)cCc>cTc p.P92L PIGV_ENST00000078527.4_Missense_Mutation_p.P92L|PIGV_ENST00000449950.2_Intron NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 92 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity p.P92L(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CCTGGTTTCCCCTTGGCCCTG 0.522000 32 36 0 0 0.012213 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535696 90535696 + RNA SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:90535696C>G ENST00000602681.1 + 0 1600 AGTTTCTGCCCTCTCCTGGTC 0.552000 28 78 0 0 0.004656 0 0 FER 2241 broad.mit.edu 37 5 108380486 108380486 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:108380486C>A ENST00000281092.4 + 15 2203 c.1819C>A c.(1819-1821)Caa>Aaa p.Q607K FER_ENST00000438717.2_Missense_Mutation_p.Q432K NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 607 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.Q607K(1) NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAAATTTTTACAAGAAGCCAA 0.244000 19 51 0.00074312 0.000810123 0.006122 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995776 57995776 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:57995776C>T ENST00000316770.2 - 1 614 c.572G>A c.(571-573)cGc>cAc p.R191H NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 191 R -> C (in dbSNP:rs11229301). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R191H(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GCAGGCCAGGCGCAGGACGGG 0.612000 22 22 0 0 0.010504 0 0 XIRP2 129446 broad.mit.edu 37 2 168103076 168103076 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:168103076C>A ENST00000409195.1 + 9 5263 c.5174C>A c.(5173-5175)tCa>tAa p.S1725* XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1725*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1503*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1550 actin cytoskeleton organization cell junction actin binding p.S1725*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTTCCACATCAAACAATAAA 0.363000 18 35 5.3912e-06 6.32674e-06 0.006122 1 0 DENND3 22898 broad.mit.edu 37 8 142154254 142154254 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:142154254G>T ENST00000519811.1 + 5 701 c.631G>T c.(631-633)Gct>Tct p.A211S DENND3_ENST00000262585.2_Missense_Mutation_p.A131S|DENND3_ENST00000424248.1_Missense_Mutation_p.A131S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 131 DENN. p.A131S(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CAGTTTATTGGCTCTTCTGAA 0.438000 20 20 1.00905e-13 1.50228e-13 0.008871 1 0 PCDH17 27253 broad.mit.edu 37 13 58207804 58207804 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:58207804G>T ENST00000377918.3 + 1 1150 c.1124G>T c.(1123-1125)cGg>cTg p.R375L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 375 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.R375L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCCCTGGTGCGGGTCACTGAC 0.731000 12 22 0.000219431 0.000246629 0.002450 1 0 CCDC141 285025 broad.mit.edu 37 2 179732906 179732906 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:179732906C>G ENST00000420890.2 - 16 2538 c.2421G>C c.(2419-2421)gaG>gaC p.E807D CCDC141_ENST00000295723.5_Missense_Mutation_p.E232D NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 232 protein binding p.E232D(1)|p.E807D(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAAACTCCAGCTCTCTTGATT 0.433000 19 39 0 0 0.012319 0 0 F5 2153 broad.mit.edu 37 1 169493096 169493096 + Nonsense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:169493096A>T ENST00000367796.3 - 20 6051 c.5850T>A c.(5848-5850)taT>taA p.Y1950* F5_ENST00000367797.3_Nonsense_Mutation_p.Y1945* P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1945 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.Y1945*(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCAAGCATTATAAGATCCAC 0.343000 45 161 0 0 0.014410 0 0 HOXB3 3213 broad.mit.edu 37 17 46627701 46627701 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:46627701G>T ENST00000470495.1 - 2 2738 c.1291C>A c.(1291-1293)Ctg>Atg p.L431M HOXB3_ENST00000498678.1_Missense_Mutation_p.L431M|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.L358M|HOXB3_ENST00000472863.1_Missense_Mutation_p.L358M|HOXB3_ENST00000476342.1_Missense_Mutation_p.L431M|HOXB3_ENST00000460160.1_Missense_Mutation_p.L299M|HOXB3_ENST00000311626.4_Missense_Mutation_p.L431M|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.L297M|HOXB3_ENST00000485909.2_Missense_Mutation_p.L299M|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA P14651 HXB3_HUMAN homeobox B3 431 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L431M(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TCCCATCACAGGTGTGTTAAT 0.592000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 40 3.73988e-18 6.24357e-18 0.006320 1 0 SIAH3 283514 broad.mit.edu 37 13 46358033 46358033 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:46358033C>A ENST00000400405.2 - 2 401 c.295G>T c.(295-297)Gcc>Tcc p.A99S NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 99 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding p.A99S(1) large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 ACCGGGTTGGCGTGCAGCCCC 0.682000 19 24 1.2644e-06 1.50596e-06 0.010504 1 0 F13A1 2162 broad.mit.edu 37 6 6305670 6305670 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:6305670C>A ENST00000264870.3 - 3 498 c.233G>T c.(232-234)cGc>cTc p.R78L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 78 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R78L(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTGCCCTCTGCGGACAATCAG 0.478000 17 85 4.7546e-09 6.13944e-09 0.004007 1 0 CELA3A 10136 broad.mit.edu 37 1 22336244 22336244 + Missense_Mutation SNP G G T rs146504981 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:22336244G>T ENST00000290122.3 + 7 708 c.689G>T c.(688-690)tGg>tTg p.W230L NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A p.W230L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GATGGTGGCTGGCAGGTCCAC 0.577000 14 33 2.32078e-09 3.01626e-09 0.003163 1 0 GAS1 2619 broad.mit.edu 37 9 89561033 89561033 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:89561033T>A ENST00000298743.7 - 1 1071 c.662A>T c.(661-663)gAc>gTc p.D221V NM_002048.2 NP_002039.2 P54826 GAS1_HUMAN growth arrest-specific 1 221 cell cycle arrest|negative regulation of S phase of mitotic cell cycle anchored to plasma membrane p.D221V(1) kidney(1)|lung(2)|skin(1) 4 GCACACGCAGTCGTTGAGCAG 0.667000 6 21 0 0 0.004482 0 0 NUP214 8021 broad.mit.edu 37 9 134073346 134073346 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:134073346G>T ENST00000359428.5 + 29 4609 c.4465G>T c.(4465-4467)Gct>Tct p.A1489S NUP214_ENST00000411637.2_Missense_Mutation_p.A1479S|NUP214_ENST00000451030.1_Missense_Mutation_p.A1490S|NUP214_ENST00000483497.2_Missense_Mutation_p.A315S P35658 NU214_HUMAN nucleoporin 214kDa 1489 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.A1489S(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GCCTATGTCCGCTGGCAGAAG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 38 120 2.87052e-16 4.54499e-16 0.005524 1 0 THNSL2 55258 broad.mit.edu 37 2 88472892 88472892 + Splice_Site SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:88472892G>C ENST00000324166.5 + 1 1914 c.223_splice c.e1+1 p.D75_splice THNSL2_ENST00000343544.4_Splice_Site_p.D75_splice|THNSL2_ENST00000449349.1_Splice_Site_p.D43_splice|THNSL2_ENST00000358591.2_Splice_Site_p.D75_splice|THNSL2_ENST00000402102.1_Splice_Site_p.D75_splice|THNSL2_ENST00000377254.3_Splice_Site_p.D75_splice NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 75 threonine biosynthetic process threonine synthase activity p.D75H(1) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 TGAATTAAATGGTGAGTGCTC 0.507000 6 15 0 0 0.001168 0 0 MT1M 4499 broad.mit.edu 37 16 56667670 56667670 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:56667670C>T ENST00000379818.3 + 3 601 c.102C>T c.(100-102)tgC>tgT p.C34C NM_176870.2 NP_789846.1 Q8N339 MT1M_HUMAN metallothionein 1M 34 Alpha. metal ion binding p.C34C(2) endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 CAGGCTGCTGCTCCTGCTGCC 0.622000 42 103 0 0 0.014410 0 0 ASMT 438 broad.mit.edu 37 X 1748717 1748717 + Silent SNP C C A rs144935309 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:1748717C>A ENST00000381241.3 + 5 646 c.447C>A c.(445-447)tcC>tcA p.S149S ASMT_ENST00000381233.3_Silent_p.S149S|ASMT_ENST00000381229.4_Silent_p.S149S|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 149 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity p.S149S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATGCCAGGTCCGAGGGCGAGC 0.572000 47 123 8.44121e-28 1.53093e-27 0.014410 1 0 IPO13 9670 broad.mit.edu 37 1 44415696 44415696 + Missense_Mutation SNP A A C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:44415696A>C ENST00000372343.3 + 2 1354 c.692A>C c.(691-693)cAg>cCg p.Q231P NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 231 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity p.Q231P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) AGCTGGGTGCAGCTGGAGGTG 0.617000 7 13 0 0 0.001984 0 0 COL5A1 1289 broad.mit.edu 37 9 137623349 137623349 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:137623349C>T ENST00000371817.3 + 8 1586 c.1172C>T c.(1171-1173)cCg>cTg p.P391L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 391 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P391L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGCCAGCTCCGCCTCCAGGG 0.632000 8 44 0 0 0.004482 0 0 APPBP2 10513 broad.mit.edu 37 17 58525167 58525167 + Missense_Mutation SNP A A C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr17:58525167A>C ENST00000083182.3 - 13 1820 c.1533T>G c.(1531-1533)agT>agG p.S511R NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 511 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding p.S511R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ATTCTAGTCCACTGTAGCCCT 0.323000 29 55 0 0 0.008361 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131785626 131785626 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:131785626G>T ENST00000392953.3 + 5 1055 c.536G>T c.(535-537)gGa>gTa p.G179V ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G179V|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G108V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G179V|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G179V NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 179 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity p.G179L(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGCCACCCTGGAGGGGGTGGG 0.622000 9 15 6.40141e-05 7.23559e-05 0.010729 1 0 GAPT 202309 broad.mit.edu 37 5 57790735 57790735 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:57790735C>A ENST00000396776.2 + 3 834 c.372C>A c.(370-372)atC>atA p.I124I GAPT_ENST00000318469.2_Silent_p.I124I NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 124 B cell activation integral to membrane|plasma membrane p.I124I(1) NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AGGAGCATATCTATGGAAATG 0.378000 37 72 1.91236e-09 2.49356e-09 0.009718 1 0 BCHE 590 broad.mit.edu 37 3 165548104 165548104 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:165548104C>A ENST00000264381.3 - 2 884 c.718G>T c.(718-720)Gga>Tga p.G240* BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 240 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding p.G240*(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GAATGGCTTCCAGGAGAAAGC 0.428000 25 52 4.26978e-12 5.99874e-12 0.003330 1 0 LARGE 9215 broad.mit.edu 37 22 34046467 34046467 + Silent SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr22:34046467G>A ENST00000354992.2 - 4 865 c.294C>T c.(292-294)caC>caT p.H98H LARGE_ENST00000402320.1_Silent_p.H98H|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000437602.2_Silent_p.H98H|LARGE_ENST00000397394.2_Silent_p.H98H|LARGE_ENST00000337431.2_Silent_p.H98H NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 98 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity p.H98H(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGGTCTTGGAGTGGTTGCCTC 0.682000 34 65 0 0 0.004878 0 0 TNPO2 30000 broad.mit.edu 37 19 12821473 12821473 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:12821473T>A ENST00000425528.1 - 13 1589 c.1232A>T c.(1231-1233)aAg>aTg p.K411M TNPO2_ENST00000450764.2_Missense_Mutation_p.K411M|TNPO2_ENST00000356861.5_Missense_Mutation_p.K411M|TNPO2_ENST00000588216.1_Missense_Mutation_p.K411M|TNPO2_ENST00000592287.1_Missense_Mutation_p.K411M|TNPO2_ENST00000441499.1_Missense_Mutation_p.K411M O14787 TNPO2_HUMAN transportin 2 411 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity p.K411M(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCCGACTCCTTGACCACCCA 0.622000 10 11 0 0 0.010729 0 0 ANTXR1 84168 broad.mit.edu 37 2 69300168 69300168 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:69300168A>T ENST00000303714.4 + 6 749 c.427A>T c.(427-429)Agc>Tgc p.S143C ANTXR1_ENST00000409829.3_Missense_Mutation_p.S143C|ANTXR1_ENST00000409349.3_Missense_Mutation_p.S143C NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 143 VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity p.S143C(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CAGGACAGCCAGCGTCATCAT 0.483000 Familial Infantile Hemangioma 56 118 0 0 0.014410 0 0 APOBEC1 339 broad.mit.edu 37 12 7803640 7803640 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:7803640C>A ENST00000229304.4 - 4 560 c.540G>T c.(538-540)ctG>ctT p.L180L NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 180 Leu-rich. cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding p.L180L(1) kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 AGTGCAGCTCCAGTGCGTACA 0.433000 47 82 3.68337e-26 6.62012e-26 0.014410 1 0 COL4A1 1282 broad.mit.edu 37 13 110831356 110831356 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:110831356C>A ENST00000375820.4 - 31 2493 c.2372G>T c.(2371-2373)gGc>gTc p.G791V NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 791 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.G791V(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCCCACGGAGCCTGGCAATCC 0.607000 5 16 0.00116845 0.00126344 0.001168 1 0 LAMC3 10319 broad.mit.edu 37 9 133927929 133927929 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:133927929C>T ENST00000361069.4 + 10 1815 c.1682C>T c.(1681-1683)aCc>aTc p.T561I LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 561 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity p.T561I(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCATACTGACCTTCCGGGTG 0.592000 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 97 0 0 0.012213 0 0 MUC16 94025 broad.mit.edu 37 19 9009593 9009593 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:9009593C>A ENST00000397910.4 - 39 39336 c.39133G>T c.(39133-39135)Ggt>Tgt p.G13045C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13047 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G13045C(1)|p.G197C(1) 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 CTAACCAGACCCTGCAGGACC 0.552000 57 80 1.84395e-34 3.43802e-34 0.014410 1 0 MB21D2 151963 broad.mit.edu 37 3 192516570 192516570 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:192516570G>A ENST00000392452.2 - 2 1401 c.1081C>T c.(1081-1083)Ctc>Ttc p.L361F NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 361 p.L359F(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TCATCGATGAGGCCCAGCAAA 0.517000 12 33 0 0 0.001855 0 0 VANGL2 57216 broad.mit.edu 37 1 160393962 160393962 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:160393962G>T ENST00000368061.2 + 7 1668 c.1194G>T c.(1192-1194)atG>atT p.M398I NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 398 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.M398I(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGCATCCATGGCCCGTGCCA 0.577000 23 45 2.32416e-17 3.80057e-17 0.014323 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125367414 125367414 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:125367414A>T ENST00000431078.1 + 12 2154 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 597 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.Q597L(1)|p.Q597P(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TACAGGCACCAGGGGAATACA 0.532000 18 48 0 0 0.008871 0 0 NPIPB4 440345 broad.mit.edu 37 16 21854828 21854828 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:21854828C>A ENST00000415645.2 - 4 463 c.424G>T c.(424-426)Gtc>Ttc p.V142F NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.V142F nuclear pore complex interacting protein family, member B4 p.V1462F(1)|p.V1462I(1) AGAGTAATGACGTCTTTCAGG 0.398000 41 174 7.63091e-17 1.22772e-16 0.007835 1 0 TMEM38B 55151 broad.mit.edu 37 9 108536211 108536211 + Nonsense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:108536211G>A ENST00000374688.1 + 6 1274 c.564G>A c.(562-564)tgG>tgA p.W188* TMEM38B_ENST00000374692.3_Nonsense_Mutation_p.W242* Q9NVV0 TM38B_HUMAN transmembrane protein 38B 242 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity p.W242*(1) kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 CATTGAGTTGGATGCTATTTG 0.413000 91 95 0 0 0.014410 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028330 142028330 + RNA SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:142028330G>A ENST00000390353.2 + 0 121 AGTGAATGCTGGTGTCACTCA 0.527000 5 93 0 0 0.006214 0 0 CYP26B1 56603 broad.mit.edu 37 2 72361997 72361997 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:72361997G>T ENST00000001146.2 - 4 957 c.754C>A c.(754-756)Cgg>Agg p.R252R CYP26B1_ENST00000412253.1_Silent_p.R61R|CYP26B1_ENST00000546307.1_Silent_p.R177R NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 252 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.R252R(1) breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 AGCTTCTCCCGGATGGCCTTC 0.602000 20 42 1.28384e-07 1.60079e-07 0.012319 1 0 VCAN 1462 broad.mit.edu 37 5 82833850 82833850 + Silent SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:82833850A>T ENST00000265077.3 + 8 5593 c.5028A>T c.(5026-5028)atA>atT p.I1676I VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.I689I|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1676 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.I1676I(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTAGCAGGATAATCACAGAAA 0.383000 42 59 0 0 0.011902 0 0 CMA1 1215 broad.mit.edu 37 14 24976666 24976666 + Nonsense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:24976666G>T ENST00000250378.3 - 2 134 c.105C>A c.(103-105)taC>taA p.Y35* CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 35 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity p.Y35*(1) kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) GGTAGGCCATGTAGGGGCGGG 0.512000 42 124 1.86277e-20 3.24561e-20 0.014410 1 0 OR8J3 81168 broad.mit.edu 37 11 55904334 55904334 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:55904334G>T ENST00000301529.1 - 1 860 c.861C>A c.(859-861)ccC>ccA p.P287P NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TGTAGATCAAGGGATTCAGCA 0.363000 25 55 8.24728e-16 1.28542e-15 0.004656 1 0 COL6A3 1293 broad.mit.edu 37 2 238285673 238285673 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr2:238285673C>A ENST00000295550.4 - 7 3264 c.2812G>T c.(2812-2814)Gat>Tat p.D938Y COL6A3_ENST00000346358.4_Missense_Mutation_p.D738Y|COL6A3_ENST00000347401.3_Missense_Mutation_p.D737Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.D732Y|COL6A3_ENST00000392003.2_Missense_Mutation_p.D531Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.D331Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.D732Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.D732Y NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 938 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.D732Y(1)|p.D938Y(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGCACTCCATCCTCGATCCGG 0.552000 23 38 6.44725e-10 8.51806e-10 0.014323 1 0 DNAH10 196385 broad.mit.edu 37 12 124330219 124330219 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:124330219G>T ENST00000409039.3 + 30 5104 c.5079G>T c.(5077-5079)gtG>gtT p.V1693V NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1693 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.V285V(1)|p.V1693V(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCTGGGAGGTGGAAGACGTCT 0.562000 8 20 0.000274275 0.000303988 0.004482 1 0 HNRNPH3 3189 broad.mit.edu 37 10 70101065 70101065 + Splice_Site SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:70101065G>T ENST00000265866.7 + 7 939 c.775_splice c.e7+1 p.M258_splice HNRNPH3_ENST00000441000.2_Splice_Site_p.M150_splice|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Splice_Site_p.M243_splice NM_012207.2|NM_021644.3 NP_036339.1|NP_067676.2 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 (2H9) 258 Gly-rich.|RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding p.M258I(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 AAAATAACATGCGTAAGTGGT 0.403000 27 64 1.77063e-15 2.70683e-15 0.005443 1 0 MUC16 94025 broad.mit.edu 37 19 9073672 9073672 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:9073672C>T ENST00000397910.4 - 3 13977 c.13774G>A c.(13774-13776)Gag>Aag p.E4592K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4594 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E4592K(2)|p.E225K(1) 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 GGCTCTCCCTCAATGTCTGTG 0.502000 10 32 0 0 0.006214 0 0 MYO16 23026 broad.mit.edu 37 13 109507894 109507894 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr13:109507894A>T ENST00000356711.2 + 11 1412 c.1286A>T c.(1285-1287)cAg>cTg p.Q429L MYO16_ENST00000251041.5_Missense_Mutation_p.Q429L|MYO16_ENST00000357550.2_Missense_Mutation_p.Q429L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 429 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.Q429L(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GGGAACAATCAGATCTATGTG 0.468000 15 10 0 0 0.004990 0 0 RD3 343035 broad.mit.edu 37 1 211652548 211652548 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:211652548G>A ENST00000367002.4 - 3 1581 c.418C>T c.(418-420)Cgc>Tgc p.R140C RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 140 response to stimulus|visual perception p.R140C(1) central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) CTCCACTGGCGCGTCAGCTTG 0.682000 6 17 0 0 0.001984 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 42 0 0 0.003080 0 0 ASPM 259266 broad.mit.edu 37 1 197087023 197087023 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:197087023C>A ENST00000367409.4 - 17 4217 c.3961G>T c.(3961-3963)Gtc>Ttc p.V1321F ASPM_ENST00000294732.7_Missense_Mutation_p.V1321F|ASPM_ENST00000367408.1_Missense_Mutation_p.V571F NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1321 mitosis cytoplasm|nucleus calmodulin binding p.V1321F(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCTGAATGACGAGTGCTGCA 0.313000 40 203 1.47197e-15 2.26763e-15 0.007835 1 0 ADAM19 8728 broad.mit.edu 37 5 156923992 156923992 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:156923992C>A ENST00000257527.4 - 14 1582 c.1504G>T c.(1504-1506)Gat>Tat p.D502Y ADAM19_ENST00000430702.2_Missense_Mutation_p.D235Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.D502Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.D504Y NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 502 Cys-rich.|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.D502Y(1)|p.D503Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGGTACCATCCATCTGGTAG 0.642000 9 19 3.09899e-07 3.84005e-07 0.004482 1 0 OR1F2P 26184 broad.mit.edu 37 16 3265781 3265781 + RNA SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:3265781C>G ENST00000576468.1 + 0 418 GCCTGCACACCCCCATGTACT 0.532000 13 35 0 0 0.004990 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 15 0 0 0.009096 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2273100 2273100 + Missense_Mutation SNP T T A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:2273100T>A ENST00000290974.2 - 12 2809 c.2470A>T c.(2470-2472)Acg>Tcg p.T824S ZFYVE28_ENST00000508471.1_Missense_Mutation_p.T129S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T754S|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T794S NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 824 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.T824S(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TTGCACGCCGTGCAGAAGCCA 0.667000 5 9 0 0 0.001168 0 0 CRYBB1 1414 broad.mit.edu 37 22 27003955 27003955 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr22:27003955G>T ENST00000215939.2 - 4 460 c.330C>A c.(328-330)cgC>cgA p.R110R NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 110 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens p.R110R(1) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 ACATCTCCCCGCGGAAGTTGG 0.562000 10 21 4.36969e-10 5.83113e-10 0.001855 1 0 DENND2D 79961 broad.mit.edu 37 1 111730977 111730977 + Missense_Mutation SNP T T C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:111730977T>C ENST00000357640.4 - 11 1344 c.1115A>G c.(1114-1116)aAc>aGc p.N372S DENND2D_ENST00000369752.5_Missense_Mutation_p.N369S NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 372 dDENN. p.N372S(1) breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) AACATGCTCGTTGATTTGTTC 0.473000 31 48 0 0 0.003755 0 0 USH1C 10083 broad.mit.edu 37 11 17531201 17531201 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:17531201G>T ENST00000005226.7 - 18 1714 c.1715C>A c.(1714-1716)cCa>cAa p.P572Q USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_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 p.P572Q(1) 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 CTTGTGGGGTGGGTTGGAGGG 0.622000 10 6 0.000442599 0.000487837 0.006214 1 0 ZNF560 147741 broad.mit.edu 37 19 9578057 9578057 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:9578057C>T ENST00000301480.4 - 10 1779 c.1566G>A c.(1564-1566)ggG>ggA p.G522G NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G522G(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TAAATGGTTTCCCACATTTGT 0.398000 21 80 0 0 0.003954 0 0 GFPT2 9945 broad.mit.edu 37 5 179729493 179729493 + Missense_Mutation SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:179729493A>T ENST00000253778.8 - 18 2103 c.1934T>A c.(1933-1935)cTc>cAc p.L645H NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 645 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding p.L645H(1) breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GATGCCCTGGAGGCAGTCCAC 0.532000 28 53 0 0 0.006320 0 0 TRPC1 7220 broad.mit.edu 37 3 142503761 142503761 + Silent SNP A A T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:142503761A>T ENST00000273482.6 + 6 1465 c.1074A>T c.(1072-1074)gcA>gcT p.A358A TRPC1_ENST00000476941.1_Silent_p.A392A NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 392 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity p.A358A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TTCATGGAGCATCATATTTCA 0.363000 10 38 0 0 0.010729 0 0 ZNF831 128611 broad.mit.edu 37 20 57767353 57767353 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr20:57767353G>T ENST00000371030.2 + 1 1279 c.1279G>T c.(1279-1281)Gtg>Ttg p.V427L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 427 intracellular nucleic acid binding|zinc ion binding p.V427L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCTGGACAACGTGCGGCCCCG 0.647000 7 12 0.000157383 0.00017739 0.003080 1 0 SRRM3 222183 broad.mit.edu 37 7 75894699 75894699 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:75894699C>T ENST00000388802.4 + 10 952 c.743C>T c.(742-744)cCa>cTa p.P248L SRRM3_ENST00000326382.8_Missense_Mutation_p.P248L serine/arginine repetitive matrix 3 p.P248L(1) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 ACAGAGTCCCCAGGCCGGAGG 0.647000 3 22 0 0 0.009096 0 0 LINC00207 388910 broad.mit.edu 37 22 44967343 44967343 + RNA SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr22:44967343G>A ENST00000605505.1 + 0 334 NR_028409.1 p.G71G(2) lung(3) 3 CATCTGGAGGGACGTCCTGTC 0.562000 8 24 0 0 0.004482 0 0 NUDT12 83594 broad.mit.edu 37 5 102895772 102895772 + Nonsense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:102895772C>A ENST00000230792.2 - 2 274 c.178G>T c.(178-180)Gag>Tag p.E60* NUDT12_ENST00000507423.1_Intron NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 60 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity p.E60*(1) endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TGGACTATCTCTGGGTGCCCA 0.378000 39 66 5.44703e-19 9.24836e-19 0.009718 1 0 ZNF823 55552 broad.mit.edu 37 19 11833620 11833620 + Silent SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:11833620C>G ENST00000341191.6 - 4 882 c.729G>C c.(727-729)acG>acC p.T243T ZNF823_ENST00000545749.1_Silent_p.T61T NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T243T(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CTTTCTCTCCCGTGTGGATTC 0.413000 HNSCC(68;0.2) 35 56 0 0 0.004878 0 0 OR4C46 119749 broad.mit.edu 37 11 51515921 51515921 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr11:51515921G>T ENST00000328188.1 + 1 640 c.640G>T c.(640-642)Gtc>Ttc p.V214F NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V214F(1) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCTCCTGCTGGTCTCCTATGT 0.517000 26 51 1.85244e-09 2.42336e-09 0.003330 1 0 CUL9 23113 broad.mit.edu 37 6 43172512 43172512 + Missense_Mutation SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:43172512C>T ENST00000252050.4 + 22 4450 c.4366C>T c.(4366-4368)Cgg>Tgg p.R1456W CUL9_ENST00000354495.3_Missense_Mutation_p.R1346W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1456W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1456 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.R1456W(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGGTCGGGACCGGAGCCCGGC 0.597000 24 141 0 0 0.008361 0 0 HLX 3142 broad.mit.edu 37 1 221053271 221053271 + Silent SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:221053271G>T ENST00000366903.6 + 1 1573 c.72G>T c.(70-72)tcG>tcT p.S24S HLA-AS1_ENST00000552026.1_RNA NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 24 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) ACTGCTCCTCGGCCGGCCCAG 0.697000 4 8 1.23904e-05 1.44133e-05 0.000602 1 0 PDLIM3 27295 broad.mit.edu 37 4 186423472 186423472 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr4:186423472C>A ENST00000284770.5 - 8 1144 c.1071G>T c.(1069-1071)acG>acT p.T357T PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.T309T NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 357 sarcomere zinc ion binding p.T357T(2)|p.T309T(1) breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) ACAGAGTGACCGTGTCATAGC 0.562000 28 65 4.15321e-07 5.1146e-07 0.009535 1 0 C8A 731 broad.mit.edu 37 1 57347232 57347232 + Silent SNP C C T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr1:57347232C>T ENST00000361249.3 + 5 675 c.579C>T c.(577-579)acC>acT p.T193T NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 193 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex p.T193T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 ATGACTCCACCTGTGAACGTC 0.473000 31 94 0 0 0.013726 0 0 IGHV3-66 28412 broad.mit.edu 37 14 107131483 107131483 + RNA SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr14:107131483G>T ENST00000390632.2 - 0 77 AAACTCCATGGCGAGTCCTCT 0.507000 47 39 4.17328e-34 7.74484e-34 0.014410 1 0 CTNND2 1501 broad.mit.edu 37 5 11346695 11346695 + Missense_Mutation SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr5:11346695C>A ENST00000304623.8 - 9 1606 c.1417G>T c.(1417-1419)Ggc>Tgc p.G473C CTNND2_ENST00000511377.1_Missense_Mutation_p.G382C|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40C|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473C NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 473 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.G473C(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGCTGGCTGCCTGTGCGCTGC 0.617000 21 27 5.26018e-13 7.63204e-13 0.012319 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54537612 54537612 + Missense_Mutation SNP C C G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:54537612C>G ENST00000474759.1 + 5 523 c.475C>G c.(475-477)Cat>Gat p.H159D CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H159D|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H159D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H65D NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 159 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.H159D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCCAAATGACCATTTTAATAA 0.403000 13 43 0 0 0.013537 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766816 77766816 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr8:77766816C>A ENST00000521891.2 + 10 8107 c.7659C>A c.(7657-7659)ggC>ggA p.G2553G ZFHX4_ENST00000455469.2_Silent_p.G2508G|ZFHX4_ENST00000050961.6_Silent_p.G2508G|ZFHX4_ENST00000518282.1_Silent_p.G2527G NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2508 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G2537G(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACTGCTGGGCAGTTCCCTCA 0.512000 HNSCC(33;0.089) 34 44 2.42023e-17 3.9255e-17 0.003271 1 0 GPR97 222487 broad.mit.edu 37 16 57717902 57717902 + Missense_Mutation SNP G G A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr16:57717902G>A ENST00000333493.4 + 9 1101 c.940G>A c.(940-942)Ggc>Agc p.G314S RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Missense_Mutation_p.G104S|GPR97_ENST00000450388.3_Missense_Mutation_p.G194S NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 314 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G314S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGCCCTGGGTGGCAGCCTGTT 0.607000 19 39 0 0 0.006122 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 4 --- --- --- --- LRRC2 79442 broad.mit.edu 37 3 46586690 46586691 + Frame_Shift_Ins INS - - G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:46586690_46586691insG ENST00000395905.3 - 3 570_571 c.178_179insC c.(178-180)ggcfs p.G60fs LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Frame_Shift_Ins_p.G60fs NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 60 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GTATACAGCCTGGGGGATGCCC 0.530 20 56 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130380698 130380699 + Frame_Shift_Ins INS - - C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:130380698_130380699insC ENST00000358511.6 + 34 6079_6080 c.6048_6049insC c.(6046-6051)gcccccfs p.AP2016fs COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.AP2016fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2016 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGAGCCATGCTCCCCCCGACTT 0.515 17 28 --- --- --- --- AGTR1 185 broad.mit.edu 37 3 148459218 148459218 + Frame_Shift_Del DEL C C - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr3:148459218delC ENST00000542281.1 + 4 842 c.396delC c.(394-396)cafs p.H132fs AGTR1_ENST00000418473.2_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000461609.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000404754.2_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000497524.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000475347.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000402260.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000474935.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000349243.3_Frame_Shift_Del_p.H132fs NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 132 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CTATTGTTCACCCAATGAAGT 0.493 51 130 --- --- --- --- GFRAL 389400 broad.mit.edu 37 6 55198657 55198657 + Frame_Shift_Del DEL T T - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr6:55198657delT ENST00000340465.2 + 3 317 c.231delT c.(229-231)aafs p.N77fs NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 77 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGGAAAGCAATTTCCAATTTA 0.348 40 86 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr7:149515189delA ENST00000378016.2 + 0 11577 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) GACCTCGAGTAACTGCCCCAG 0.667 3 3 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14150231 14150231 + Frame_Shift_Del DEL G G - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:14150231delG ENST00000380959.3 - 5 1192 c.719delC c.(718-720)cafs p.P240fs NFIB_ENST00000380934.4_Frame_Shift_Del_p.P266fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.P240fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.P240fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.P240fs|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397579.2_Frame_Shift_Del_p.P240fs|NFIB_ENST00000543693.1_5'UTR NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 240 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TTCTCCAATTGGGAAGTTGAC 0.448 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 81 233 --- --- --- --- ZNF79 7633 broad.mit.edu 37 9 130207312 130207313 + Frame_Shift_Del DEL TA TA - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr9:130207312_130207313delTA ENST00000342483.5 + 5 1739_1740 c.1333_1334delTA c.(1333-1335)tfs p.Y445fs ZNF79_ENST00000543471.1_Frame_Shift_Del_p.Y421fs NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 AGAAAAACCTTATGAGTGTAAT 0.460 100 104 --- --- --- --- RBP3 5949 broad.mit.edu 37 10 48389149 48389149 + Frame_Shift_Del DEL G G - rs149750989 byFrequency TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:48389149delG ENST00000224600.4 - 1 1842 c.1729delC c.(1729-1731)gcfs p.R577fs NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 577 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGCACCGTGCGGGTGTGCAGC 0.687 22 82 --- --- --- --- MAPK8 5599 broad.mit.edu 37 10 49632174 49632174 + Frame_Shift_Del DEL C C - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr10:49632174delC ENST00000374189.1 + 7 841 c.660delC c.(658-660)tgfs p.C220fs MAPK8_ENST00000374182.3_Frame_Shift_Del_p.C220fs|MAPK8_ENST00000360332.3_Frame_Shift_Del_p.C220fs|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000395611.3_Intron P45983 MK08_HUMAN mitogen-activated protein kinase 8 220 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) AAATGGTTTGCCACAAAATCC 0.383 17 44 --- --- --- --- C12orf74 338809 broad.mit.edu 37 12 93100529 93100529 + Frame_Shift_Del DEL C C - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr12:93100529delC ENST00000544406.2 + 2 388 c.122delC c.(121-123)gcfs p.A41fs C12orf74_ENST00000397833.3_Frame_Shift_Del_p.A41fs Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 41 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 GACCGGCAAGCCCCAGGCCGC 0.637 18 50 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34080643 34080644 + Frame_Shift_Ins INS - - A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:34080643_34080644insA ENST00000389232.4 + 67 9884_9885 c.9814_9815insA c.(9814-9816)cgtfs p.R3272fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.R3272fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3272 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGATCCGCTACGTGGACAAC 0.550 17 32 --- --- --- --- RASL12 51285 broad.mit.edu 37 15 65357561 65357562 + Frame_Shift_Ins INS - - G TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:65357561_65357562insG ENST00000220062.4 - 2 429_430 c.153_154insC c.(151-156)ccacttfs p.L52fs RASL12_ENST00000421977.3_Intron|RASL12_ENST00000434605.2_Frame_Shift_Ins_p.L41fs NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 52 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TTACCCAAGTTGGGGTCATATT 0.569 9 8 --- --- --- --- HAPLN3 145864 broad.mit.edu 37 15 89421235 89421235 + Frame_Shift_Del DEL C C - TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr15:89421235delC ENST00000359595.3 - 5 1263 c.1049delG c.(1048-1050)ccfs p.R350fs HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.R412fs NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 350 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) ACCGTACAAGCGGCTCTGCGG 0.612 20 41 --- --- --- --- CTC-512J12.4 0 broad.mit.edu 37 19 44917435 44917436 + RNA INS - - TCCG TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chr19:44917435_44917436insTCCG ENST00000588655.1 - 0 488 TTCtccttccttctttccttcc 0.416 2 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 341bf21e-abd5-498e-8c49-111782af842c ce0ffb10-3747-4401-bb1b-52bc2d4a0537 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 3 --- --- --- ---