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 IL1RAPL2 26280 broad.mit.edu 37 X 104440227 104440227 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:104440227G>A ENST00000372582.1 + 3 909 c.153G>A c.(151-153)gtG>gtA p.V51V IL1RAPL2_ENST00000344799.4_Silent_p.V51V NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 51 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAGTCCGAGTGAAATGTGCCC 0.448000 38 74 0 0 0.000191422 0 0 PCLO 27445 broad.mit.edu 37 7 82582174 82582174 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:82582174G>A ENST00000423517.2 - 5 8432 c.8095C>T c.(8095-8097)Cct>Tct p.P2699S PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2630 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTCTGGAGGAATTGTTATG 0.403000 15 21 0 0 0.000308642 0 0 RAB27B 5874 broad.mit.edu 37 18 52556557 52556557 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr18:52556557G>A ENST00000262094.5 + 6 1091 c.570G>A c.(568-570)gaG>gaA p.E190E RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 190 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) AGTGTGTGGAGAAGACACAAA 0.413000 11 14 0 0 0.00010058 0 0 PSG8 440533 broad.mit.edu 37 19 43259372 43259372 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:43259372C>T ENST00000404209.4 - 4 852 c.756G>A c.(754-756)agG>agA p.R252R PSG8_ENST00000406636.3_Silent_p.R130R|PSG8_ENST00000401467.2_Silent_p.R159R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Silent_p.R252R NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 252 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CCTTATTCTCCCTGGGTTTTA 0.488000 11 163 0 0 6.40141e-05 0 0 SGCG 6445 broad.mit.edu 37 13 23853509 23853509 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr13:23853509G>A ENST00000218867.3 + 5 521 c.397G>A c.(397-399)Gta>Ata p.V133I SGCG_ENST00000537476.1_Missense_Mutation_p.V133I|SGCG_ENST00000545013.1_Missense_Mutation_p.V133I NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 133 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TCCCAAAATGGTAGAAGTCCA 0.388000 19 28 0 0 9.7654e-05 0 0 ZFP36L1 677 broad.mit.edu 37 14 69259613 69259613 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr14:69259613C>T ENST00000439696.2 - 1 344 c.43G>A c.(43-45)Gaa>Aaa p.E15K ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E15K NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 15 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CATAAAACTTCGCTCAAGTCG 0.532000 70 47 0 0 0.000147903 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887610 12887610 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:12887610C>T ENST00000535591.1 - 3 442 c.247G>A c.(247-249)Ggg>Agg p.G83R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 83 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AGGAAGCACCCATGGGCCATA 0.483000 57 615 0 0 0.000147903 0 0 IVL 3713 broad.mit.edu 37 1 152883848 152883848 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:152883848G>A ENST00000368764.3 + 2 1639 c.1575G>A c.(1573-1575)caG>caA p.Q525Q IVL_ENST00000392667.2_Silent_p.Q379Q P07476 INVO_HUMAN involucrin 525 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) atctggagcagcaggaggggc 0.597000 4 9 0 0 0.00024832 0 0 ETV6 2120 broad.mit.edu 37 12 12022474 12022474 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:12022474C>T ENST00000396373.4 + 5 854 c.580C>T c.(580-582)Cct>Tct p.P194S NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 194 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCGGCCTTCTCCTGACCCCGA 0.637000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 53 172 0 0 0.000147903 0 0 SNHG24 101929369 broad.mit.edu 37 14 101436214 101436214 + RNA SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr14:101436214C>T ENST00000554693.2 + 0 299 GAGGGCTGATCCTGGACCAGT 0.348000 9 4 0 0 6.40141e-05 0 0 OR52E2 119678 broad.mit.edu 37 11 5079889 5079889 + Silent SNP C C T rs148031312 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:5079889C>T ENST00000321522.2 - 1 968 c.969G>A c.(967-969)acG>acA p.T323T NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCAGAACCTCGTATGTATTA 0.318000 26 20 0 0 0.000227799 0 0 PARD3B 117583 broad.mit.edu 37 2 206166306 206166306 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:206166306G>A ENST00000406610.2 + 18 2718 c.2511G>A c.(2509-2511)acG>acA p.T837T PARD3B_ENST00000351153.1_Silent_p.T768T|PARD3B_ENST00000358768.2_Silent_p.T775T|PARD3B_ENST00000349953.3_Silent_p.T837T|PARD3B_ENST00000462231.1_Silent_p.T837T NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 837 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TCAAAAAAACgaaagagaagg 0.433000 30 48 0 0 0.000227799 0 0 RAB40B 10966 broad.mit.edu 37 17 80616413 80616413 + Missense_Mutation SNP G G A rs142445256 byFrequency TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:80616413G>A ENST00000538809.2 - 5 433 c.368C>T c.(367-369)tCg>tTg p.S123L RAB40B_ENST00000571995.1_Silent_p.I173I|RAB40B_ENST00000269347.6_5'UTR Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCAGCAGCACGATCCTGGCCA 0.657000 36 24 0 0 0.000589545 0 0 PLK2 10769 broad.mit.edu 37 5 57751514 57751514 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:57751514G>A ENST00000274289.3 - 11 1777 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 493 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) TGCTCTTTGGGAATGCAATCA 0.498000 6 18 0 0 8.12818e-05 0 0 CORIN 10699 broad.mit.edu 37 4 47788900 47788900 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:47788900G>A ENST00000273857.4 - 3 250 c.251C>T c.(250-252)cCt>cTt p.P84L CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.P84L|CORIN_ENST00000504584.1_Missense_Mutation_p.P84L|CORIN_ENST00000502252.1_Intron NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 84 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGTGACCAAAGGTTCACTCCC 0.363000 13 35 0 0 0.000151284 0 0 CDH10 1008 broad.mit.edu 37 5 24491716 24491716 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:24491716G>A ENST00000264463.4 - 11 2352 c.1845C>T c.(1843-1845)atC>atT p.I615I CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 615 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GGAGGATGGCGATCAAGGCCC 0.493000 HNSCC(23;0.051) 28 63 0 0 0.000339439 0 0 PSG8 440533 broad.mit.edu 37 19 43258539 43258539 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:43258539G>A ENST00000404209.4 - 5 1285 c.1189C>T c.(1189-1191)Cgt>Tgt p.R397C PSG8_ENST00000406636.3_Missense_Mutation_p.R275C|PSG8_ENST00000401467.2_Missense_Mutation_p.R304C|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.R397C NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 397 Ig-like C2-type 3. extracellular region p.R397C(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCTGAGTTACGAACAGAGCAA 0.448000 11 150 0 0 3.86212e-05 0 0 RMND1 55005 broad.mit.edu 37 6 151766442 151766442 + Splice_Site SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:151766442C>T ENST00000367303.4 - 2 627 c.e2+1 RMND1_ENST00000491268.1_Splice_Site NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CCCTACTTTACCTCGTTCACA 0.517000 13 14 0 0 0.000308642 0 0 SNHG14 104472715 broad.mit.edu 37 15 25453110 25453110 + RNA SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:25453110C>T ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CAGCCAGGTCCCCAGCTCCTG 0.602000 8 8 0 0 0.000157383 0 0 SPAG16 79582 broad.mit.edu 37 2 215274924 215274924 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:215274924G>A ENST00000331683.5 + 16 1876 c.1781G>A c.(1780-1782)gGg>gAg p.G594E AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.G500E|AC107218.3_ENST00000437883.1_RNA NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 594 cilium assembly cilium axoneme|flagellar axoneme p.G594V(1) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTTAAATCTGGGGAGATTCAC 0.478000 37 66 0 0 0.000270559 0 0 CHMP4B 128866 broad.mit.edu 37 20 32436417 32436417 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr20:32436417C>T ENST00000217402.2 + 2 500 c.335C>T c.(334-336)gCc>gTc p.A112V NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 112 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 ATGGGCTATGCCGCCAAGGCC 0.612000 13 35 0 0 0.000219431 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435740 7435740 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:7435740C>T ENST00000319098.4 - 1 960 c.867G>A c.(865-867)aaG>aaA p.K289K SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 289 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TCACACCGGCCTTCATCTGCA 0.597000 20 28 0 0 9.7654e-05 0 0 TRIOBP 11078 broad.mit.edu 37 22 38154108 38154108 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr22:38154108G>A ENST00000406386.3 + 16 6431 c.6176G>A c.(6175-6177)gGg>gAg p.G2059E TRIOBP_ENST00000407319.2_Missense_Mutation_p.G346E|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.G346E NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2059 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAGCGCCGAGGGCCCCCAAGT 0.662000 12 10 0 0 7.07596e-05 0 0 GLUD2 2747 broad.mit.edu 37 X 120182675 120182675 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:120182675G>A ENST00000328078.1 + 1 1214 c.1137G>A c.(1135-1137)ctG>ctA p.L379L NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 379 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GTGACATACTGATCCCAGCTG 0.507000 83 142 0 0 0.000147903 0 0 CAMK4 814 broad.mit.edu 37 5 110820041 110820041 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:110820041G>A ENST00000282356.4 + 11 1697 c.1299G>A c.(1297-1299)gaG>gaA p.E433E CAMK4_ENST00000512453.1_Silent_p.E433E|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 433 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TGGAACTAGAGGAGGGCCTAG 0.527000 16 15 0 0 0.000308642 0 0 CCR3 1232 broad.mit.edu 37 3 46306838 46306838 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:46306838G>A ENST00000357422.2 + 4 732 c.189G>A c.(187-189)agG>agA p.R63R CCR3_ENST00000395940.2_Silent_p.R63R|CCR3_ENST00000545097.1_Silent_p.R84R|CCR3_ENST00000395942.2_Silent_p.R63R|CCR3_ENST00000541018.1_Silent_p.R63R P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 63 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TAAAATACAGGAGGCTCCGAA 0.547000 26 47 0 0 9.22233e-05 0 0 BRAT1 221927 broad.mit.edu 37 7 2587019 2587019 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:2587019G>A ENST00000340611.4 - 3 477 c.221C>T c.(220-222)tCc>tTc p.S74F NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 74 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CAGTGAGAAGGAGAGGACCCC 0.617000 14 19 0 0 0.000151284 0 0 TYSND1 219743 broad.mit.edu 37 10 71905214 71905214 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr10:71905214C>T ENST00000287078.6 - 1 1128 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K TYSND1_ENST00000335494.5_Missense_Mutation_p.E377K NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 377 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CTGGCTGCTTCCCGAGGGGAC 0.667000 7 4 0 0 0.000157383 0 0 ERBB4 2066 broad.mit.edu 37 2 212289026 212289026 + Splice_Site SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:212289026C>T ENST00000342788.4 - 23 3030 c.2719_splice c.e23-1 p.G907_splice ERBB4_ENST00000402597.1_Splice_Site_p.G897_splice|ERBB4_ENST00000436443.1_Splice_Site_p.G907_splice NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 907 Protein kinase. 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 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) TATAGTAACTCCTATATTGGA 0.363000 TSP Lung(8;0.080) 5 16 0 0 1.23904e-05 0 0 KRT36 8689 broad.mit.edu 37 17 39643210 39643210 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:39643210C>T ENST00000393986.2 - 7 1262 c.1050G>A c.(1048-1050)gaG>gaA p.E350E KRT36_ENST00000328119.6_Silent_p.E400E O76013 KRT36_HUMAN keratin 36 400 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) ACTTGCAGTCCTCTCCCTCCA 0.627000 13 14 0 0 0.00010058 0 0 WDR75 84128 broad.mit.edu 37 2 190338913 190338913 + Splice_Site SNP T T A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:190338913T>A ENST00000314761.4 + 19 2111 c.2049_splice c.e19-1 p.L684_splice NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 684 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TCCTTAAAGCTGCTAGCAGAA 0.348000 44 92 0 0 0.000147903 0 0 STPG2 285555 broad.mit.edu 37 4 98762046 98762046 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:98762046G>A ENST00000295268.3 - 9 1171 c.1082C>T c.(1081-1083)tCa>tTa p.S361L STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 CATCTCATATGATTTGTGAAC 0.358000 35 34 0 0 0.000191422 0 0 TLN1 7094 broad.mit.edu 37 9 35717705 35717705 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr9:35717705G>A ENST00000314888.9 - 18 2427 c.2074C>T c.(2074-2076)Cgg>Tgg p.R692W TLN1_ENST00000540444.1_Missense_Mutation_p.R692W NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 692 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTCTGTCCGCTGGGCCACA 0.562000 35 26 0 0 0.000437636 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769424 13769424 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:13769424C>T ENST00000279593.3 - 5 1502 c.1293G>A c.(1291-1293)agG>agA p.R431R NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 431 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R431S(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGACTGTGTTCCTCATGCAGG 0.517000 18 62 0 0 9.7654e-05 0 0 FLNB 2317 broad.mit.edu 37 3 58084469 58084469 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:58084469G>A ENST00000357272.4 + 8 1344 c.1179G>A c.(1177-1179)gtG>gtA p.V393V FLNB_ENST00000419752.2_Silent_p.V224V|FLNB_ENST00000295956.4_Silent_p.V393V|FLNB_ENST00000429972.2_Silent_p.V393V|FLNB_ENST00000348383.5_Silent_p.V393V|FLNB_ENST00000490882.1_Silent_p.V393V|FLNB_ENST00000358537.3_Silent_p.V393V|FLNB_ENST00000493452.1_Silent_p.V224V O75369 FLNB_HUMAN filamin B, beta 393 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTGTGGAGGTGGAAGATCCCC 0.537000 20 39 0 0 0.000175454 0 0 TMEM95 339168 broad.mit.edu 37 17 7259218 7259218 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:7259218C>T ENST00000389982.4 + 3 370 c.288C>T c.(286-288)ctC>ctT p.L96L TMEM95_ENST00000330767.4_Silent_p.L96L|TMEM95_ENST00000576060.1_Silent_p.L96L Q3KNT9 TMM95_HUMAN transmembrane protein 95 96 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) AGACCAAGCTCCCTGAGTACA 0.557000 OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 19 0 0 0.000229342 0 0 OR5H1 26341 broad.mit.edu 37 3 97851871 97851871 + Silent SNP G G A rs113686881 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:97851871G>A ENST00000354565.2 + 1 330 c.330G>A c.(328-330)acG>acA p.T110T RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GTGTAACCACGGAATGTTTTC 0.408000 66 98 0 0 0.000147903 0 0 SEMA5A 9037 broad.mit.edu 37 5 9119117 9119117 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:9119117C>T ENST00000382496.5 - 15 2583 c.1918G>A c.(1918-1920)Gag>Aag p.E640K NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 640 TSP type-1 2. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TACCTTTCCTCGCGGTTCTGT 0.652000 12 32 0 0 0.000422831 0 0 OR2M2 391194 broad.mit.edu 37 1 248344204 248344204 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:248344204G>A ENST00000359682.2 + 1 917 c.917G>A c.(916-918)gGa>gAa p.G306E NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G306V(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAGATCTTAGGAAAGGGCAAG 0.398000 57 87 0 0 0.000147903 0 0 WDR82 80335 broad.mit.edu 37 3 52293245 52293245 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:52293245G>A ENST00000296490.3 - 7 1018 c.737C>T c.(736-738)tCa>tTa p.S246L NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 246 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TGGAGTAAATGAAGCCTCCAG 0.378000 34 66 0 0 0.000374591 0 0 BAI1 575 broad.mit.edu 37 8 143562671 143562671 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:143562671C>T ENST00000517894.1 + 10 2779 c.1885C>T c.(1885-1887)Ccc>Tcc p.P629S BAI1_ENST00000323289.5_Missense_Mutation_p.P629S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 629 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGGGAGCCCCCCACCTACAT 0.622000 18 52 0 0 0.00047179 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350470 51350470 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:51350470G>A ENST00000327536.5 - 3 586 c.487C>T c.(487-489)Cac>Tac p.H163Y RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 163 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) ATGATCTTGTGGGCTTCCTTC 0.453000 77 156 0 0 0.000147903 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636194 74636194 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:74636194G>A ENST00000358632.4 - 4 986 c.291C>T c.(289-291)ttC>ttT p.F97F CYP11A1_ENST00000268053.6_Silent_p.F255F|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.F97F NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 255 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TGAACAGACGGAACAGGTCTG 0.562000 42 104 0 0 0.000147903 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617696 54617696 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:54617696G>A ENST00000302287.3 + 4 873 c.467G>A c.(466-468)aGa>aAa p.R156K VSTM2A_ENST00000402026.2_Missense_Mutation_p.R155K|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R156K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R156K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R156K Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 156 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CATGCCCGCAGAATGCAGGCC 0.582000 6 5 0 0 3.59834e-05 0 0 DGKB 1607 broad.mit.edu 37 7 14613968 14613968 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:14613968G>A ENST00000403951.2 - 20 2061 c.1642C>T c.(1642-1644)Cta>Tta p.L548L DGKB_ENST00000402815.1_Silent_p.L547L|DGKB_ENST00000444700.2_Silent_p.L529L|DGKB_ENST00000399322.3_Silent_p.L548L|DGKB_ENST00000258767.5_Silent_p.L548L|DGKB_ENST00000407950.1_Silent_p.L540L|DGKB_ENST00000406247.3_Silent_p.L548L|DGKB_ENST00000403963.1_5'UTR Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 548 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) ATGTCTTTTAGAATTTTCATC 0.353000 59 94 0 0 0.000147903 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188953 32188953 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:32188953C>T ENST00000375023.3 - 4 739 c.601G>A c.(601-603)Gac>Aac p.D201N NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 201 EGF-like 5; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGTCCTGGGTCCTGGAAGCAC 0.642000 137 223 0 0 0.000147903 0 0 CNGB3 54714 broad.mit.edu 37 8 87679279 87679279 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:87679279G>A ENST00000320005.5 - 6 773 c.726C>T c.(724-726)ttC>ttT p.F242F NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 242 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TTTGATATGGGAAGACGAGGC 0.443000 35 45 0 0 0.000159656 0 0 ARPC3 10094 broad.mit.edu 37 12 110883266 110883266 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:110883266G>A ENST00000228825.7 - 2 243 c.97C>T c.(97-99)Ccc>Tcc p.P33S ARPC3_ENST00000471641.1_5'UTR|RP11-478C19.2_ENST00000550231.1_RNA NM_001278556.1|NM_005719.2 NP_001265485.1|NP_005710.1 O15145 ARPC3_HUMAN actin related protein 2/3 complex, subunit 3, 21kDa 33 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton lung(1)|ovary(1) 2 CTCTCTCTGGGGGCAGGTCCT 0.403000 31 24 0 0 0.000409698 0 0 CASS4 57091 broad.mit.edu 37 20 55012536 55012536 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr20:55012536G>A ENST00000371336.3 + 2 554 c.353G>A c.(352-354)aGt>aAt p.S118N CASS4_ENST00000360314.3_Missense_Mutation_p.S118N|CASS4_ENST00000434344.1_Missense_Mutation_p.S118N NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 118 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CAGATGAGGAGTTGGGCGGAG 0.597000 28 51 0 0 0.000339439 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279728 47279728 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:47279728C>T ENST00000271153.4 + 6 801 c.765C>T c.(763-765)gaC>gaT p.D255D CYP4B1_ENST00000452782.2_Silent_p.D93D|CYP4B1_ENST00000371919.4_Silent_p.D241D|CYP4B1_ENST00000371923.4_Silent_p.D256D P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 255 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGGCCCATGACCATACAGGTG 0.612000 21 126 0 0 0.000375601 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22349669 22349669 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:22349669C>T ENST00000405243.1 - 4 513 c.430G>A c.(430-432)Gaa>Aaa p.E144K RAPGEF5_ENST00000344041.6_5'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GGACAGTGTTCTAGAAGCCAG 0.448000 14 32 0 0 0.000308642 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 132 89 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9017365 9017365 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:9017365C>T ENST00000397910.4 - 26 38162 c.37959G>A c.(37957-37959)agG>agA p.R12653R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12655 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTTCCTGTCCAGGG 0.567000 55 79 0 0 0.000147903 0 0 SLC22A14 9389 broad.mit.edu 37 3 38350536 38350536 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:38350536C>T ENST00000273173.4 + 4 958 c.867C>T c.(865-867)atC>atT p.I289I SLC22A14_ENST00000448498.1_Silent_p.I289I NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 289 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGACAGGGATCGCCTACAGTC 0.567000 29 106 0 0 0.000279167 0 0 SATB2 23314 broad.mit.edu 37 2 200136952 200136952 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:200136952G>A ENST00000443023.1 - 10 3472 c.2007C>T c.(2005-2007)gcC>gcT p.A669A SATB2_ENST00000417098.1_Silent_p.A728A|SATB2_ENST00000457245.1_Silent_p.A728A|SATB2_ENST00000260926.5_Silent_p.A728A|SATB2_ENST00000428695.1_Silent_p.A610A Q9UPW6 SATB2_HUMAN SATB homeobox 2 728 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGTCAATTTCGGCAGGTGCTG 0.443000 56 86 0 0 0.000147903 0 0 TPTE 7179 broad.mit.edu 37 21 10973727 10973727 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr21:10973727C>T ENST00000298232.7 - 4 374 c.7G>A c.(7-9)Gaa>Aaa p.E3K TPTE_ENST00000342420.5_Missense_Mutation_p.E3K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 3 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) ACTCACCTTTCATTCATACGT 0.373000 17 108 0 0 0.000375601 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739366 15739366 + RNA SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:15739366C>T ENST00000441682.2 + 0 1336 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TCAACATCTTCGCAATCCATC 0.627000 8 152 0 0 6.40141e-05 0 0 RELN 5649 broad.mit.edu 37 7 103322669 103322669 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:103322669C>T ENST00000424685.2 - 11 1342 c.1183G>A c.(1183-1185)Gga>Aga p.G395R RELN_ENST00000343529.5_Missense_Mutation_p.G395R|RELN_ENST00000428762.1_Missense_Mutation_p.G395R P78509 RELN_HUMAN reelin 395 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTTCATTTCCATGGAAATAA 0.453000 44 84 0 0 0.000147903 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123728 47123728 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:47123728C>T ENST00000290341.3 + 14 1968 c.1634C>T c.(1633-1635)gCc>gTc p.A545V IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A406V NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 545 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CATTTCTATGCCAGTCAGGTA 0.522000 7 15 0 0 0.000157383 0 0 TMEM177 80775 broad.mit.edu 37 2 120438600 120438600 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:120438600C>T ENST00000424086.1 + 2 644 c.171C>T c.(169-171)ctC>ctT p.L57L TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L57L|TMEM177_ENST00000409951.1_Silent_p.L57L|TMEM177_ENST00000401466.1_Silent_p.L57L NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 57 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CAGCTCCGCTCCCTCCACAGC 0.582000 45 97 0 0 0.000125731 0 0 MIOX 55586 broad.mit.edu 37 22 50926695 50926695 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr22:50926695C>T ENST00000395733.3 + 5 478 c.364C>T c.(364-366)Ccc>Tcc p.P122S MIOX_ENST00000216075.6_Intron|MIOX_ENST00000395732.3_Intron Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 0 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGTCCATCCCCCTCCCAGAC 0.662000 11 15 0 0 0.000151284 0 0 PSG7 5676 broad.mit.edu 37 19 43433850 43433850 + RNA SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:43433850G>A ENST00000406070.2 - 0 549 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGCTGCTGGAGATGGAGGGTT 0.517000 59 37 0 0 0.000147903 0 0 EXPH5 23086 broad.mit.edu 37 11 108381788 108381788 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:108381788C>T ENST00000265843.4 - 6 4556 c.4446G>A c.(4444-4446)agG>agA p.R1482R EXPH5_ENST00000428840.1_Silent_p.R1406R|EXPH5_ENST00000443411.1_Silent_p.R1294R|EXPH5_ENST00000525344.1_Silent_p.R1475R NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1482 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCTGCCTTCCCTAGGCTGTG 0.478000 16 19 0 0 0.000308642 0 0 TIE1 7075 broad.mit.edu 37 1 43783252 43783252 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:43783252G>A ENST00000372476.3 + 16 2717 c.2638G>A c.(2638-2640)Gac>Aac p.D880N TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.D525N NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 880 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCTGAAAATGACCATCGTGA 0.493000 78 201 0 0 0.000147903 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325337 77325337 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr16:77325337C>T ENST00000282849.5 - 21 3646 c.3228G>A c.(3226-3228)gaG>gaA p.E1076E NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1076 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGCACTTCATCTCCCTCTTCC 0.483000 80 63 0 0 0.000147903 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323245 61323245 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr18:61323245C>T ENST00000283752.5 - 8 962 c.819G>A c.(817-819)caG>caA p.Q273Q SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.Q221Q NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 273 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTCTCATATTCTGCAAACTTG 0.393000 24 22 0 0 0.000295444 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825928 64825928 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:64825928G>A ENST00000358658.3 - 1 93 c.66C>T c.(64-66)atC>atT p.I22I NAALADL1_ENST00000356632.3_Silent_p.I22I|NAALADL1_ENST00000355369.2_Silent_p.I22I|NAALADL1_ENST00000339885.2_Silent_p.I22I|NAALADL1_ENST00000340252.4_Silent_p.I22I|NAALADL1_ENST00000355721.3_Silent_p.I22I NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 22 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 AGTGGCCGAGGATGATCCCCA 0.642000 12 16 0 0 0.00010058 0 0 MAP1A 4130 broad.mit.edu 37 15 43819242 43819242 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:43819242C>T ENST00000382031.1 + 5 6316 c.6285C>T c.(6283-6285)ctC>ctT p.L2095L MAP1A_ENST00000300231.5_Silent_p.L1857L|MAP1A_ENST00000399453.1_Silent_p.L1857L P78559 MAP1A_HUMAN microtubule-associated protein 1A 1857 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTGCACCCCTCTCCCCAGCTC 0.627000 11 10 0 0 3.86212e-05 0 0 EDN3 1908 broad.mit.edu 37 20 57876575 57876575 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr20:57876575G>A ENST00000311585.7 + 2 533 c.163G>A c.(163-165)Gag>Aag p.E55K EDN3_ENST00000371025.3_Missense_Mutation_p.E55K|EDN3_ENST00000371028.2_Missense_Mutation_p.E55K|EDN3_ENST00000337938.2_Missense_Mutation_p.E55K|EDN3_ENST00000395654.3_Missense_Mutation_p.E55K NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 55 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) TGGCCCTGGCGAGGAGACTGT 0.706000 9 12 0 0 0.000442599 0 0 VARS 7407 broad.mit.edu 37 6 31752241 31752241 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:31752241G>A ENST00000375663.3 - 12 1946 c.1506C>T c.(1504-1506)tcC>tcT p.S502S VARS_ENST00000444930.2_Silent_p.S207S NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 502 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AGCCAGGCACGGAGAGCAGGG 0.602000 161 341 0 0 0.000147903 0 0 PCNXL2 80003 broad.mit.edu 37 1 233344346 233344346 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:233344346G>A ENST00000258229.8 - 13 3015 c.2781C>T c.(2779-2781)gcC>gcT p.A927A PCNXL2_ENST00000488780.2_Silent_p.A60A|PCNXL2_ENST00000430153.1_Silent_p.A226A NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 927 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GAGGGTGCCTGGCTTTGGCCC 0.433000 10 28 0 0 0.000442599 0 0 CCDC138 165055 broad.mit.edu 37 2 109489923 109489923 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:109489923C>T ENST00000295124.4 + 14 1770 c.1710C>T c.(1708-1710)ttC>ttT p.F570F CCDC138_ENST00000412964.2_Intron NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 570 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 TGCAGCCTTTCCTGGAAGCCT 0.363000 41 112 0 0 0.000125731 0 0 LRP1B 53353 broad.mit.edu 37 2 141299473 141299473 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:141299473G>A ENST00000389484.3 - 44 8233 c.7262C>T c.(7261-7263)tCg>tTg p.S2421L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2421 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) TCCCCAGTCCGACCAGAATAT 0.383000 TSP Lung(27;0.18) 17 24 0 0 7.07596e-05 0 0 CYP3A5 1577 broad.mit.edu 37 7 99272187 99272187 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:99272187C>T ENST00000343703.5 - 4 543 c.157G>A c.(157-159)Gag>Aag p.E53K CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.E63K|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E63K|CYP3A5_ENST00000339843.2_3'UTR cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TTATAGCACTCTGTGTCAAAT 0.398000 14 32 0 0 0.000422831 0 0 FAM149A 25854 broad.mit.edu 37 4 187088408 187088408 + Missense_Mutation SNP T T A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:187088408T>A ENST00000356371.5 + 13 2240 c.2240T>A c.(2239-2241)aTt>aAt p.I747N FAM149A_ENST00000514153.1_Missense_Mutation_p.I456N|FAM149A_ENST00000503432.1_Missense_Mutation_p.I456N|FAM149A_ENST00000389354.5_Missense_Mutation_p.I456N|FAM149A_ENST00000227065.4_Missense_Mutation_p.I456N|FAM149A_ENST00000502970.1_Missense_Mutation_p.I456N A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 747 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GGTCAAAGTATTTTGACAGGT 0.378000 52 98 0 0 0.000147903 0 0 TRIM29 23650 broad.mit.edu 37 11 120008273 120008273 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:120008273G>A ENST00000341846.5 - 1 888 c.467C>T c.(466-468)gCc>gTc p.A156V NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 156 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCCCGTGTCGGCCCGGGGGTA 0.642000 20 49 0 0 0.000295444 0 0 ABCA13 154664 broad.mit.edu 37 7 48559846 48559846 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:48559846C>T ENST00000435803.1 + 53 14031 c.14007C>T c.(14005-14007)ctC>ctT p.L4669L ABCA13_ENST00000544596.1_Silent_p.L399L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4669 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGTACTTCTCCTCTTGAGGG 0.522000 7 18 0 0 0.000274275 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457234 45457234 + RNA SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:45457234G>A ENST00000548424.1 + 0 448 ATCAATGCTGGGAGTAATAGG 0.433000 8 7 0 0 0.000157383 0 0 KDR 3791 broad.mit.edu 37 4 55955863 55955863 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:55955863G>A ENST00000263923.4 - 24 3594 c.3299C>T c.(3298-3300)tCc>tTc p.S1100F RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1100 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTACCTAAGGAAAATATTTC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 58 114 0 0 0.000147903 0 0 SNHG14 104472715 broad.mit.edu 37 15 25457072 25457072 + RNA SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:25457072C>T ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CCGAGATTTCCGGCAGGGCCA 0.542000 19 37 0 0 0.000132079 0 0 C9orf173 441476 broad.mit.edu 37 9 140146341 140146341 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr9:140146341G>A ENST00000388931.3 + 2 288 c.262G>A c.(262-264)Gaa>Aaa p.E88K C9orf173_ENST00000412566.1_Missense_Mutation_p.E88K NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1 NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1 Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 88 kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 GACCCTGAGGGAACTATGTGA 0.637000 3 0 0 0 0.00024832 0 0 KIF4A 24137 broad.mit.edu 37 X 69594073 69594073 + Nonsense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:69594073C>T ENST00000374403.3 + 16 1829 c.1747C>T c.(1747-1749)Cag>Tag p.Q583* KIF4A_ENST00000374388.3_Nonsense_Mutation_p.Q583* NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 583 anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTTGAACTTCAGACAGCAAA 0.353000 32 68 0 0 0.00058488 0 0 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:7577105G>A ENST00000420246.2 - 8 965 c.833C>T c.(832-834)cCt>cTt p.P278L TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTCTCCCAGGACAGGCACA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 6 0 0 0.000422831 0 0 OR13G1 441933 broad.mit.edu 37 1 247835593 247835593 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:247835593G>A ENST00000359688.2 - 1 772 c.751C>T c.(751-753)Cct>Tct p.P251S RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 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;0.017) TAGATTACAGGAGAATAGTAA 0.453000 6 39 0 0 0.000157383 0 0 OR10J1 26476 broad.mit.edu 37 1 159410164 159410164 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:159410164G>A ENST00000423932.3 + 1 653 c.616G>A c.(616-618)Gaa>Aaa p.E206K RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 206 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CACTGTCAATGAAATCCTGAC 0.438000 43 57 0 0 0.000147903 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576572 33576572 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:33576572C>T ENST00000504830.1 - 19 3894 c.3559G>A c.(3559-3561)Gct>Act p.A1187T ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1102T NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1187 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCACTGGAGCGTCATTTCCA 0.498000 HNSCC(64;0.19) 43 96 0 0 0.000147903 0 0 ANKRD50 57182 broad.mit.edu 37 4 125593615 125593615 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:125593615G>A ENST00000504087.1 - 4 1854 c.817C>T c.(817-819)Cgt>Tgt p.R273C ANKRD50_ENST00000515641.1_Missense_Mutation_p.R94C NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 273 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TGATCTAAACGATGAAGAATG 0.363000 14 13 0 0 0.000219431 0 0 PIPSL 266971 broad.mit.edu 37 10 95721273 95721273 + RNA SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr10:95721273C>T ENST00000480546.1 - 0 24 NR_002319.2 CAGCCCCCTCCCCCTCAAGGG 0.597000 24 23 0 0 0.000227799 0 0 MSR1 4481 broad.mit.edu 37 8 15967646 15967646 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:15967646C>T ENST00000350896.3 - 9 1312 c.1115G>A c.(1114-1116)gGg>gAg p.G372E MSR1_ENST00000262101.5_Missense_Mutation_p.G435E|MSR1_ENST00000355282.2_Missense_Mutation_p.G372E|MSR1_ENST00000445506.2_Missense_Mutation_p.G453E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 435 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GGCTCTTGTCCCCCATTGCCG 0.373000 36 53 0 0 0.000132358 0 0 TRIM10 10107 broad.mit.edu 37 6 30128513 30128513 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:30128513G>A ENST00000449742.2 - 1 198 c.123C>T c.(121-123)acC>acT p.T41T TRIM10_ENST00000376704.3_Silent_p.T41T NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 41 cytoplasm zinc ion binding ovary(1) 1 CACAGTAGCGGGTAAGGCAGG 0.622000 52 83 0 0 0.000147903 0 0 GSTCD 79807 broad.mit.edu 37 4 106766726 106766726 + Missense_Mutation SNP C C G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:106766726C>G ENST00000515279.1 + 12 2114 c.1894C>G c.(1894-1896)Ccc>Gcc p.P632A GSTCD_ENST00000394730.3_Missense_Mutation_p.P545A|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Missense_Mutation_p.P632A|GSTCD_ENST00000360505.5_Missense_Mutation_p.P632A Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 632 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TGTGGGAGTCCCCATTTAAAA 0.453000 17 28 0 0 0.000132079 0 0 FAM227B 196951 broad.mit.edu 37 15 49880259 49880259 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:49880259C>T ENST00000299338.6 - 5 662 c.359G>A c.(358-360)cGa>cAa p.R120Q FAM227B_ENST00000561064.1_Missense_Mutation_p.R120Q|FAM227B_ENST00000558594.1_Missense_Mutation_p.R120Q|FAM227B_ENST00000560246.1_Missense_Mutation_p.R120Q NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TTCCCCATATCGTTCCAATTT 0.244000 11 32 0 0 0.00010058 0 0 TERT 7015 broad.mit.edu 37 5 1272354 1272354 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:1272354G>A ENST00000310581.5 - 7 2385 c.2328C>T c.(2326-2328)ttC>ttT p.F776F TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Silent_p.F776F NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 776 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGTGAGCCACGAACTGTCGCA 0.657000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 8 12 0 0 0.000442599 0 0 MRPS15 64960 broad.mit.edu 37 1 36926372 36926372 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:36926372C>T ENST00000373116.5 - 5 467 c.306G>A c.(304-306)gaG>gaA p.E102E NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 102 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTTTAGCATCTCCTTCTGTT 0.507000 20 18 0 0 0.000175454 0 0 OSBPL6 114880 broad.mit.edu 37 2 179255919 179255919 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:179255919C>T ENST00000190611.4 + 22 2797 c.2421C>T c.(2419-2421)ccC>ccT p.P807P OSBPL6_ENST00000315022.2_Silent_p.P811P|OSBPL6_ENST00000409045.3_Silent_p.P776P|OSBPL6_ENST00000409631.1_Silent_p.P771P|OSBPL6_ENST00000359685.3_Silent_p.P771P|OSBPL6_ENST00000392505.2_Silent_p.P832P NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 807 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GTGTGGCCCCCTCTGCAAAGT 0.537000 46 74 0 0 0.000147903 0 0 CCDC30 728621 broad.mit.edu 37 1 43021909 43021909 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:43021909G>A ENST00000428554.2 + 12 1651 c.508G>A c.(508-510)Gag>Aag p.E170K CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E170K|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E170K Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 170 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GGGGCAGAAGGAGGAGGGCTC 0.438000 20 45 0 0 9.7654e-05 0 0 ZNF280C 55609 broad.mit.edu 37 X 129343677 129343677 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:129343677G>A ENST00000370978.4 - 16 2145 c.1992C>T c.(1990-1992)aaC>aaT p.N664N NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TACCTGGATGGTTGCTATGAG 0.313000 77 175 0 0 0.000147903 0 0 SPERT 220082 broad.mit.edu 37 13 46287733 46287733 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr13:46287733G>A ENST00000378966.3 + 2 881 c.465G>A c.(463-465)aaG>aaA p.K155K SPERT_ENST00000310521.1_Silent_p.K191K Q8NA61 SPERT_HUMAN spermatid associated 191 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) TGCTCAGCAAGGAGAACAAGA 0.622000 24 58 0 0 0.000117367 0 0 ENTHD2 146705 broad.mit.edu 37 17 79205748 79205748 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:79205748G>A ENST00000374769.2 - 9 825 c.348C>T c.(346-348)tcC>tcT p.S116S AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Silent_p.S200S ENTH domain containing 2 TGTTCTGGGAGGAATTCTGAG 0.657000 32 16 0 0 0.000270559 0 0 LZTFL1 54585 broad.mit.edu 37 3 45875784 45875784 + Missense_Mutation SNP T T A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:45875784T>A ENST00000296135.6 - 4 504 c.330A>T c.(328-330)ttA>ttT p.L110F LZTFL1_ENST00000536047.1_Missense_Mutation_p.L93F|LZTFL1_ENST00000539217.1_Missense_Mutation_p.L106F|LZTFL1_ENST00000490463.1_5'UTR NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 110 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CTTGTTCTAATAATTCTCTTG 0.284000 10 31 0 0 3.86212e-05 0 0 CDH10 1008 broad.mit.edu 37 5 24509771 24509771 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:24509771G>A ENST00000264463.4 - 7 1667 c.1160C>T c.(1159-1161)tCc>tTc p.S387F NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 387 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CAGATAGGAGGACCTACTAAA 0.393000 HNSCC(23;0.051) 20 34 0 0 0.000229342 0 0 ITGB4 3691 broad.mit.edu 37 17 73729654 73729654 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:73729654C>T ENST00000200181.3 + 13 1725 c.1538C>T c.(1537-1539)tCc>tTc p.S513F ITGB4_ENST00000449880.2_Missense_Mutation_p.S513F|ITGB4_ENST00000579662.1_Missense_Mutation_p.S513F|ITGB4_ENST00000339591.3_Missense_Mutation_p.S513F|ITGB4_ENST00000450894.3_Missense_Mutation_p.S513F|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 513 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGCCGTGCTCCGGCCGTGGG 0.637000 19 8 0 0 0.000375601 0 0 COL14A1 7373 broad.mit.edu 37 8 121293299 121293299 + Splice_Site SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:121293299G>A ENST00000297848.3 + 31 4094 c.e31+1 COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGCCAACCAGGTATGTTTCTG 0.388000 26 43 0 0 0.000339439 0 0 PRSS42 339906 broad.mit.edu 37 3 46874471 46874471 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:46874471C>T ENST00000429665.1 - 3 596 c.597G>A c.(595-597)agG>agA p.R199R PRSS42_ENST00000447340.1_Intron NM_182702.1 NP_874361.1 Q7Z5A4 PRS42_HUMAN protease, serine, 42 199 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 TCACCCAGCACCTGGTCCTAC 0.537000 29 49 0 0 0.00058488 0 0 CACNA1D 776 broad.mit.edu 37 3 53785881 53785881 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:53785881G>A ENST00000288139.3 + 29 3800 c.3682G>A c.(3682-3684)Gaa>Aaa p.E1228K CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1208K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.E115K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1208K NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1208 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCGCCTTTCGAATACATGAT 0.507000 88 148 0 0 0.000147903 0 0 DNAJC5 80331 broad.mit.edu 37 20 62560693 62560693 + Nonsense_Mutation SNP A A T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr20:62560693A>T ENST00000360864.4 + 3 289 c.136A>T c.(136-138)Aag>Tag p.K46* DNAJC5_ENST00000369911.2_Nonsense_Mutation_p.K46* NM_025219.2 NP_079495.1 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 46 J. neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TCACCCCGACAAGAACCCCGA 0.567000 8 19 0 0 0.000442599 0 0 LRRK1 79705 broad.mit.edu 37 15 101562674 101562674 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:101562674C>T ENST00000284395.5 + 16 2330 c.1930C>T c.(1930-1932)Ccg>Tcg p.P644S LRRK1_ENST00000388948.3_Missense_Mutation_p.P647S Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 647 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGTGGGTCCCCCGCGCCAGGG 0.592000 38 65 0 0 0.000509022 0 0 CNTN5 53942 broad.mit.edu 37 11 99872785 99872785 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:99872785G>A ENST00000524871.1 + 9 1187 c.897G>A c.(895-897)gaG>gaA p.E299E CNTN5_ENST00000418526.2_Silent_p.E225E|CNTN5_ENST00000279463.3_Silent_p.E299E|CNTN5_ENST00000527185.1_Silent_p.E299E|CNTN5_ENST00000528682.1_Silent_p.E299E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 299 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAGAATATGAGCCGAAAATTG 0.358000 7 24 0 0 3.86212e-05 0 0 OTOA 146183 broad.mit.edu 37 16 21734260 21734260 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr16:21734260C>T ENST00000388958.3 + 17 1842 c.1841C>T c.(1840-1842)tCc>tTc p.S614F OTOA_ENST00000388957.3_Missense_Mutation_p.S290F|OTOA_ENST00000388956.4_Missense_Mutation_p.S535F|OTOA_ENST00000286149.4_Missense_Mutation_p.S628F NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 628 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TGGGAAGTTTCCAGATTGTCT 0.458000 24 30 0 0 0.000147802 0 0 CAPN6 827 broad.mit.edu 37 X 110496399 110496399 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:110496399C>T ENST00000324068.1 - 4 510 c.343G>A c.(343-345)Gaa>Aaa p.E115K CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 115 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GCGTATTTTTCTGTTTTTTGA 0.408000 25 70 0 0 0.000184323 0 0 TYSND1 219743 broad.mit.edu 37 10 71905212 71905212 + Silent SNP T T C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr10:71905212T>C ENST00000287078.6 - 1 1130 c.1131A>G c.(1129-1131)gaA>gaG p.E377E TYSND1_ENST00000335494.5_Silent_p.E377E NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 377 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCCTGGCTGCTTCCCGAGGGG 0.657000 7 4 0 0 0.000274275 0 0 AKAP1 8165 broad.mit.edu 37 17 55183806 55183806 + Missense_Mutation SNP T T G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:55183806T>G ENST00000337714.3 + 2 1214 c.981T>G c.(979-981)aaT>aaG p.N327K AKAP1_ENST00000539273.1_Missense_Mutation_p.N327K|AKAP1_ENST00000314126.3_Missense_Mutation_p.N327K|AKAP1_ENST00000572557.1_Missense_Mutation_p.N327K|AKAP1_ENST00000571629.1_Missense_Mutation_p.N327K NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 327 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TGGATAGAAATGAGGAGAGCT 0.493000 56 52 0 0 0.000147903 0 0 GSTCD 79807 broad.mit.edu 37 4 106755698 106755698 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:106755698C>T ENST00000515279.1 + 9 1831 c.1611C>T c.(1609-1611)tgC>tgT p.C537C GSTCD_ENST00000394730.3_Silent_p.C450C|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Silent_p.C537C|GSTCD_ENST00000360505.5_Silent_p.C537C Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 537 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TCGTCACATGCCCTTGCTGTT 0.428000 43 73 0 0 0.000589545 0 0 ERC1 23085 broad.mit.edu 37 12 1399136 1399136 + Missense_Mutation SNP G G C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:1399136G>C ENST00000397203.2 + 15 3144 c.2738G>C c.(2737-2739)cGg>cCg p.R913P ERC1_ENST00000589028.1_Missense_Mutation_p.R913P|ERC1_ENST00000360905.4_Missense_Mutation_p.R913P|ERC1_ENST00000543086.3_Missense_Mutation_p.R885P|ERC1_ENST00000546231.2_Missense_Mutation_p.R917P|ERC1_ENST00000355446.5_Missense_Mutation_p.R913P Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 913 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACTAATCTTCGGGCAGAGAGA 0.433000 31 74 0 0 0.000491102 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222697 130222697 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:130222697C>T ENST00000276211.5 + 12 1927 c.1582C>T c.(1582-1584)Cca>Tca p.P528S ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P516S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P392S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 528 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCAAGACCGCCCATTGCTCCG 0.567000 26 41 0 0 0.000184323 0 0 PORCN 64840 broad.mit.edu 37 X 48372736 48372736 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:48372736G>A ENST00000367574.4 + 7 1087 c.582G>A c.(580-582)gaG>gaA p.E194E PORCN_ENST00000361988.3_Silent_p.E265E|PORCN_ENST00000326194.6_Silent_p.E276E|PORCN_ENST00000355961.4_Silent_p.E271E|PORCN_ENST00000355092.3_Silent_p.E270E|PORCN_ENST00000537758.1_Silent_p.E276E|PORCN_ENST00000359882.4_Silent_p.E270E Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 276 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTACCGAGGAGAAGGATCACC 0.637000 13 16 0 0 0.00010058 0 0 SPNS2 124976 broad.mit.edu 37 17 4416547 4416547 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:4416547C>T ENST00000329078.3 + 2 586 c.376C>T c.(376-378)Ctt>Ttt p.L126F NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 126 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 TCCAGGCGTCCTTCTGGACAT 0.677000 29 24 0 0 0.000132358 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42275028 42275028 + Missense_Mutation SNP C C A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:42275028C>A ENST00000389384.4 - 2 430 c.122G>T c.(121-123)cGg>cTg p.R41L ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R41L NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 41 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CTTGACAGCCCGGTGTACCTC 0.552000 44 34 2.55665e-31 5.45301e-30 0.000147903 1 0 KMT2A 4297 broad.mit.edu 37 11 118374290 118374290 + Silent SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:118374290A>G ENST00000534358.1 + 27 7706 c.7683A>G c.(7681-7683)ccA>ccG p.P2561P KMT2A_ENST00000354520.4_Silent_p.P2520P|KMT2A_ENST00000389506.5_Silent_p.P2558P NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCACAGAACCAATTTCAGCCT 0.433000 27 34 0 0 0.000409698 0 0 PTPRR 5801 broad.mit.edu 37 12 71286730 71286730 + Missense_Mutation SNP A A C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:71286730A>C ENST00000283228.2 - 2 538 c.86T>G c.(85-87)tTt>tGt p.F29C NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 29 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AATTGCCAAAAAATGATCATT 0.378000 21 31 0 0 0.000175454 0 0 COL6A3 1293 broad.mit.edu 37 2 238280589 238280589 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:238280589C>T ENST00000295550.4 - 9 4523 c.4071G>A c.(4069-4071)gtG>gtA p.V1357V COL6A3_ENST00000472056.1_Silent_p.V750V|COL6A3_ENST00000392004.3_Silent_p.V1151V|COL6A3_ENST00000346358.4_Silent_p.V1157V|COL6A3_ENST00000392003.2_Silent_p.V950V|COL6A3_ENST00000409809.1_Silent_p.V1151V|COL6A3_ENST00000347401.3_Silent_p.V1156V|COL6A3_ENST00000353578.4_Silent_p.V1151V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1357 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity 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) GCTTGAGCTCCACCGCCGGGT 0.612000 13 29 0 0 0.000151284 0 0 DNAH5 1767 broad.mit.edu 37 5 13754372 13754372 + Missense_Mutation SNP C C T rs148592658 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:13754372C>T ENST00000265104.4 - 62 10599 c.10495G>A c.(10495-10497)Gaa>Aaa p.E3499K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3499 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3499K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTCTTTTTCACCTGCCAAG 0.413000 Kartagener syndrome 45 70 0 0 0.000147903 0 0 STK31 56164 broad.mit.edu 37 7 23827599 23827599 + Splice_Site SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:23827599G>A ENST00000354639.3 + 21 2883 c.2418_splice c.e21-1 p.E807_splice STK31_ENST00000428484.1_Splice_Site_p.E807_splice|STK31_ENST00000355870.3_Splice_Site_p.E830_splice|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Splice_Site_p.E830_splice NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 830 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTATCTATAGGAAACTTTAAA 0.348000 32 63 0 0 0.000132358 0 0 PADI3 51702 broad.mit.edu 37 1 17599926 17599926 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:17599926C>T ENST00000375460.3 + 10 1179 c.1139C>T c.(1138-1140)cCt>cTt p.P380L NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 380 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CAGGATTTCCCTTACAAAAGA 0.622000 8 31 0 0 0.000274275 0 0 SCN4A 6329 broad.mit.edu 37 17 62043901 62043901 + Missense_Mutation SNP T T C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:62043901T>C ENST00000435607.1 - 7 1116 c.1040A>G c.(1039-1041)aAc>aGc p.N347S SCN4A_ENST00000578147.1_Missense_Mutation_p.N347S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 347 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GAAGTAGAAGTTCCCTTTGGG 0.582000 9 5 0 0 0.000442599 0 0 TRIM33 51592 broad.mit.edu 37 1 114940389 114940389 + Silent SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:114940389A>G ENST00000358465.2 - 20 3348 c.3265T>C c.(3265-3267)Ttg>Ctg p.L1089L TRIM33_ENST00000450349.2_Silent_p.L721L|TRIM33_ENST00000369543.2_Silent_p.L1072L NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 1089 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTCTGGCAAAGGTGCGAAG 0.473000 T RET papillary thyroid 17 120 0 0 0.000422831 0 0 NELL2 4753 broad.mit.edu 37 12 45000984 45000984 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:45000984G>A ENST00000429094.2 - 15 2135 c.1631C>T c.(1630-1632)cCa>cTa p.P544L NELL2_ENST00000437801.2_Missense_Mutation_p.P594L|NELL2_ENST00000551601.1_Missense_Mutation_p.P543L|NELL2_ENST00000395487.2_Missense_Mutation_p.P543L|NELL2_ENST00000549027.1_Missense_Mutation_p.P543L|NELL2_ENST00000333837.4_Missense_Mutation_p.P567L|NELL2_ENST00000452445.2_Missense_Mutation_p.P544L NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 544 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GAAGCCTTGTGGGCAGGCACA 0.393000 18 12 0 0 0.000375601 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218372 130218372 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:130218372G>A ENST00000276211.5 + 5 1084 c.739G>A c.(739-741)Gaa>Aaa p.E247K ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 247 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CCAATTCATTGAAAAACATGG 0.478000 6 27 0 0 3.59834e-05 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637023 6637023 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:6637023C>T ENST00000315579.5 + 23 3787 c.2988C>T c.(2986-2988)atC>atT p.I996I NCAPD2_ENST00000545962.1_Silent_p.I951I|NCAPD2_ENST00000542492.1_3'UTR NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 996 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CAGAACTAATCCGTGGCATCT 0.493000 68 168 0 0 0.000147903 0 0 OBSCN 84033 broad.mit.edu 37 1 228433280 228433280 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:228433280C>T ENST00000570156.2 + 13 3998 c.3924C>T c.(3922-3924)gtC>gtT p.V1308V OBSCN_ENST00000284548.11_Silent_p.V1216V|OBSCN_ENST00000422127.1_Silent_p.V1216V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 287 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCATGGAGGTCAAGGGCTGCA 0.602000 19 28 0 0 7.07596e-05 0 0 TRPC6 7225 broad.mit.edu 37 11 101323826 101323826 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:101323826C>T ENST00000344327.3 - 13 3080 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K TRPC6_ENST00000348423.4_Missense_Mutation_p.E770K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E808K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E831K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 886 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGCTTAATTTCCTTCAGTTCC 0.398000 45 53 0 0 0.000147903 0 0 IL2RB 3560 broad.mit.edu 37 22 37528505 37528505 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr22:37528505C>T ENST00000216223.5 - 9 1020 c.822G>A c.(820-822)ctG>ctA p.L274L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 274 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGACCTTCTTCAGCCTGGACA 0.617000 9 17 0 0 0.000442599 0 0 SLC9A1 6548 broad.mit.edu 37 1 27428548 27428548 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:27428548G>A ENST00000263980.3 - 9 2469 c.1894C>T c.(1894-1896)Cgc>Tgc p.R632C SLC9A1_ENST00000545949.1_Missense_Mutation_p.R293C NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 632 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AGGATTTTGCGGATCTCCTCC 0.617000 13 97 0 0 0.000566183 0 0 TRPV5 56302 broad.mit.edu 37 7 142626589 142626589 + Missense_Mutation SNP C C T rs35814608 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:142626589C>T ENST00000265310.1 - 4 769 c.421G>A c.(421-423)Gcc>Acc p.A141T TRPV5_ENST00000442623.1_Missense_Mutation_p.A141T NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 141 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GAGACACTGGCCCTGCGGGTG 0.602000 29 71 0 0 0.000109025 0 0 SLIT2 9353 broad.mit.edu 37 4 20591354 20591354 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:20591354G>A ENST00000504154.1 + 30 3428 c.3176G>A c.(3175-3177)gGa>gAa p.G1059E SLIT2_ENST00000503837.1_Missense_Mutation_p.G1055E|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1072E|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1051E NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1059 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACTCCAAAGGGATTCAAGTAA 0.502000 17 40 0 0 7.07596e-05 0 0 PRSS42 339906 broad.mit.edu 37 3 46874472 46874472 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:46874472C>T ENST00000429665.1 - 3 595 c.596G>A c.(595-597)aGg>aAg p.R199K PRSS42_ENST00000447340.1_Intron NM_182702.1 NP_874361.1 Q7Z5A4 PRS42_HUMAN protease, serine, 42 199 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.R199M(1) breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 CACCCAGCACCTGGTCCTACC 0.537000 29 48 0 0 0.000491102 0 0 OSBPL6 114880 broad.mit.edu 37 2 179255918 179255918 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:179255918C>T ENST00000190611.4 + 22 2796 c.2420C>T c.(2419-2421)cCc>cTc p.P807L OSBPL6_ENST00000315022.2_Missense_Mutation_p.P811L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P776L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P771L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P771L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P832L NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 807 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GGTGTGGCCCCCTCTGCAAAG 0.537000 46 72 0 0 0.000147903 0 0 TLE3 7090 broad.mit.edu 37 15 70351115 70351115 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:70351115G>A ENST00000558939.1 - 11 2182 c.805C>T c.(805-807)Cct>Tct p.P269S TLE3_ENST00000442299.2_Missense_Mutation_p.P269S|TLE3_ENST00000557997.1_Missense_Mutation_p.P269S|TLE3_ENST00000558201.1_Missense_Mutation_p.P275S|TLE3_ENST00000440567.3_Missense_Mutation_p.P262S|TLE3_ENST00000451782.2_Missense_Mutation_p.P269S|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.P269S|TLE3_ENST00000560589.1_Missense_Mutation_p.P213S|TLE3_ENST00000559048.1_Missense_Mutation_p.P274S|TLE3_ENST00000557907.1_Missense_Mutation_p.P269S|TLE3_ENST00000559929.1_Missense_Mutation_p.P279S|TLE3_ENST00000539550.1_Missense_Mutation_p.P213S|TLE3_ENST00000558379.1_Missense_Mutation_p.P269S|TLE3_ENST00000560939.1_Missense_Mutation_p.P274S Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 269 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCATTTTCAGGAGGGGAGTGT 0.602000 10 16 0 0 6.40141e-05 0 0 CAPN3 825 broad.mit.edu 37 15 42680027 42680027 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr15:42680027C>T ENST00000397163.3 + 4 794 c.575C>T c.(574-576)aCc>aTc p.T192I RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.T192I|CAPN3_ENST00000318023.7_Missense_Mutation_p.T192I|CAPN3_ENST00000357568.3_Missense_Mutation_p.T192I|CAPN3_ENST00000356316.3_Missense_Mutation_p.T105I NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 192 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CTGGTTTTCACCAAGTCCAAC 0.502000 31 81 0 0 0.000227799 0 0 PXK 54899 broad.mit.edu 37 3 58398679 58398679 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:58398679C>T ENST00000463280.1 + 15 1509 c.1418C>T c.(1417-1419)cCc>cTc p.P473L PXK_ENST00000383715.4_Missense_Mutation_p.P489L|PXK_ENST00000356151.2_Missense_Mutation_p.P506L|PXK_ENST00000383716.3_Missense_Mutation_p.P473L|PXK_ENST00000302779.5_Missense_Mutation_p.P489L|PXK_ENST00000479241.1_Missense_Mutation_p.P488L|PXK_ENST00000484288.1_Missense_Mutation_p.P506L|PXK_ENST00000536660.1_Missense_Mutation_p.P369L Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 506 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 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) CCAACTCCACCCTCTACATCA 0.537000 45 79 0 0 0.000147903 0 0 OR14C36 127066 broad.mit.edu 37 1 248512089 248512089 + Missense_Mutation SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:248512089A>G ENST00000317861.1 + 1 13 c.13A>G c.(13-15)Acc>Gcc p.T5A NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GCCCAATTCAACCACCGTGAT 0.398000 19 28 0 0 0.000229342 0 0 MCHR2 84539 broad.mit.edu 37 6 100369011 100369011 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:100369011C>T ENST00000281806.2 - 6 1142 c.828G>A c.(826-828)caG>caA p.Q276Q MCHR2_ENST00000445970.1_Silent_p.Q276Q|MCHR2_ENST00000369212.1_Silent_p.Q276Q NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 276 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCTGTTCCATCTGTAAGTTCA 0.473000 5 41 0 0 1.23904e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92258086 92258086 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:92258086G>A ENST00000298047.6 + 2 3596 c.3579G>A c.(3577-3579)caG>caA p.Q1193Q FAT3_ENST00000525166.1_Silent_p.Q1043Q|FAT3_ENST00000409404.2_Silent_p.Q1193Q|FAT3_ENST00000541502.1_Silent_p.Q1193Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1193 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) GAAATCCTCAGAATTTTTTTG 0.383000 TCGA Ovarian(4;0.039) 102 198 0 0 0.000147903 0 0 ARPC3 10094 broad.mit.edu 37 12 110883265 110883265 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr12:110883265G>A ENST00000228825.7 - 2 244 c.98C>T c.(97-99)cCc>cTc p.P33L ARPC3_ENST00000471641.1_5'UTR|RP11-478C19.2_ENST00000550231.1_RNA NM_001278556.1|NM_005719.2 NP_001265485.1|NP_005710.1 O15145 ARPC3_HUMAN actin related protein 2/3 complex, subunit 3, 21kDa 33 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton lung(1)|ovary(1) 2 ACTCTCTCTGGGGGCAGGTCC 0.398000 31 24 0 0 0.000409698 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904694 144904694 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:144904694G>A ENST00000370490.1 + 1 5006 c.751G>A c.(751-753)Ggg>Agg p.G251R SLITRK2_ENST00000434188.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G251R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G251R Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 251 LRRCT 1. integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TAGGTTGCATGGGAAAGACGT 0.512000 35 73 0 0 0.000374591 0 0 CALB2 794 broad.mit.edu 37 16 71406091 71406091 + Missense_Mutation SNP T T G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr16:71406091T>G ENST00000302628.4 + 2 207 c.130T>G c.(130-132)Ttt>Gtt p.F44V CALB2_ENST00000349553.5_Missense_Mutation_p.F44V NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 44 EF-hand 1. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) GCTAGAAAACTTTTTCCAAGA 0.463000 6 56 0 0 3.59834e-05 0 0 EXPH5 23086 broad.mit.edu 37 11 108381789 108381789 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:108381789C>T ENST00000265843.4 - 6 4555 c.4445G>A c.(4444-4446)aGg>aAg p.R1482K EXPH5_ENST00000428840.1_Missense_Mutation_p.R1406K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1294K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1475K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1482 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCTGCCTTCCCTAGGCTGTGA 0.483000 17 17 0 0 0.000422831 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211180 107211180 + RNA SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr14:107211180G>A ENST00000390636.2 - 0 188 GAGAGTTTCAGGGACCCCCCA 0.617000 44 24 0 0 0.000437636 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146681 70146681 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:70146681C>T ENST00000335568.5 + 1 465 c.463C>T c.(463-465)Cct>Tct p.P155S UGT2B28_ENST00000511240.1_Missense_Mutation_p.P155S NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 155 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.P155S(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TGCTTTTTTTCCTTGTGGTGA 0.383000 29 72 0 0 0.000339439 0 0 BIRC2 329 broad.mit.edu 37 11 102248425 102248425 + Missense_Mutation SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:102248425A>G ENST00000227758.2 + 7 2964 c.1565A>G c.(1564-1566)aAc>aGc p.N522S BIRC2_ENST00000532672.1_Missense_Mutation_p.N501S|BIRC2_ENST00000530675.1_Missense_Mutation_p.N473S|BIRC2_ENST00000527910.1_3'UTR NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 522 CARD. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) GCTGCGGCCAACATCTTCAAA 0.318000 14 50 0 0 0.000422831 0 0 MYO18B 84700 broad.mit.edu 37 22 26228956 26228956 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr22:26228956C>T ENST00000335473.7 + 16 3302 c.3052C>T c.(3052-3054)Ccc>Tcc p.P1018S MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGATCAAAATCCCTCTCAGGT 0.502000 14 46 0 0 0.000422831 0 0 TMEM163 81615 broad.mit.edu 37 2 135260541 135260541 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:135260541G>A ENST00000281924.6 - 5 550 c.486C>T c.(484-486)ttC>ttT p.F162F NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 162 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGACAGAAGGAATATCACCC 0.438000 7 13 0 0 0.000274275 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862838 10862838 + RNA SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr21:10862838G>A ENST00000559480.1 + 0 134 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AAGGCTTCTGGATACACCATC 0.587000 21 108 0 0 0.000175454 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985594 34985594 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:34985594C>T ENST00000360359.3 + 11 1906 c.1768C>T c.(1768-1770)Ccg>Tcg p.P590S ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 590 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CACAGCATCTCCGCACCCTGG 0.622000 47 42 0 0 0.000147903 0 0 FBXO36 130888 broad.mit.edu 37 2 230875560 230875560 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:230875560G>A ENST00000373652.3 + 5 855 c.434G>A c.(433-435)aGg>aAg p.R145K FBXO36_ENST00000409992.1_Missense_Mutation_p.R156K|FBXO36_ENST00000283946.3_Missense_Mutation_p.R176K Q8NEA4 FBX36_HUMAN F-box protein 36 176 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) CTCCGCAAGAGGAAACAAAAA 0.537000 8 19 0 0 0.000274275 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910504 230910504 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:230910504G>A ENST00000295190.4 - 4 1796 c.1338C>T c.(1336-1338)atC>atT p.I446I NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 446 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CATTAGCACAGATGATGATGC 0.473000 19 35 0 0 0.000295444 0 0 SPNS2 124976 broad.mit.edu 37 17 4416546 4416546 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:4416546C>T ENST00000329078.3 + 2 585 c.375C>T c.(373-375)gtC>gtT p.V125V NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 125 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 CTCCAGGCGTCCTTCTGGACA 0.677000 29 24 0 0 0.000109025 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407088 38407088 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:38407088G>A ENST00000322350.5 + 8 1333 c.987G>A c.(985-987)caG>caA p.Q329Q EGFLAM_ENST00000354891.3_Silent_p.Q329Q|EGFLAM_ENST00000336740.6_Silent_p.Q95Q|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 329 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTCCCATACAGAGAAAGGGGA 0.498000 25 45 0 0 9.22233e-05 0 0 TRANK1 9881 broad.mit.edu 37 3 36873966 36873966 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:36873966C>T ENST00000301807.6 - 21 7223 c.5326G>A c.(5326-5328)Gat>Aat p.D1776N TRANK1_ENST00000429976.2_Missense_Mutation_p.D2326N|TRANK1_ENST00000428977.2_Missense_Mutation_p.D1776N NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2326 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCCCTTTCATCCTTTTCAGAC 0.488000 29 128 0 0 0.00058488 0 0 C16orf71 146562 broad.mit.edu 37 16 4790608 4790608 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr16:4790608C>T ENST00000299320.5 + 4 1209 c.731C>T c.(730-732)tCc>tTc p.S244F RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.S258F NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 244 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GCTCCCAGATCCAAAATGCCC 0.652000 13 20 0 0 0.000219431 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101595985 101595985 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:101595985G>A ENST00000310954.6 - 6 1346 c.1060C>T c.(1060-1062)Cat>Tat p.H354Y NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 354 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTACTCTGATGAGCCTGGGAA 0.259000 5 21 0 0 8.12818e-05 0 0 TEC 7006 broad.mit.edu 37 4 48169925 48169925 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr4:48169925C>T ENST00000381501.3 - 7 698 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 181 SH3. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 ACGATTTCTTCACTATTATCT 0.383000 31 64 0 0 0.000491102 0 0 CXCL14 9547 broad.mit.edu 37 5 134914211 134914211 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:134914211G>A ENST00000337225.5 - 2 583 c.119C>T c.(118-120)tCc>tTc p.S40F CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.S28F NM_004887.4 NP_004878.2 O95715 CXL14_HUMAN chemokine (C-X-C motif) ligand 14 40 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity large_intestine(2)|lung(2)|prostate(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCCTTCCGGGAGCACTTGCA 0.602000 30 21 0 0 0.000491102 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83374903 83374903 + Missense_Mutation SNP C C G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:83374903C>G ENST00000262752.2 - 9 786 c.779G>C c.(778-780)gGt>gCt p.G260A RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G260A NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 260 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CATAAGAACACCATATGACCA 0.343000 25 43 0 0 0.000117367 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515462 140515462 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:140515462G>A ENST00000231134.5 + 1 663 c.446G>A c.(445-447)gGg>gAg p.G149E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 149 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAGCCAGGGACTGTGTTT 0.443000 34 21 0 0 0.000159656 0 0 PLXNB1 5364 broad.mit.edu 37 3 48464220 48464220 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:48464220C>T ENST00000358536.4 - 4 1513 c.1244G>A c.(1243-1245)gGa>gAa p.G415E PLXNB1_ENST00000456774.1_Missense_Mutation_p.G415E|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G415E|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G415E NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 415 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GATGGTGTGTCCATCTTCCAT 0.607000 20 37 0 0 0.000229342 0 0 IL37 27178 broad.mit.edu 37 2 113675351 113675351 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:113675351G>A ENST00000263326.3 + 4 447 c.405G>A c.(403-405)ctG>ctA p.L135L IL37_ENST00000349806.3_Silent_p.L74L|IL37_ENST00000353225.3_Silent_p.L95L|IL37_ENST00000311328.2_Silent_p.L109L|IL37_ENST00000352179.3_Silent_p.L114L NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 135 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 CCCTTCAGCTGAAGGTGAGAG 0.483000 46 53 0 0 0.000147903 0 0 ENPP3 5169 broad.mit.edu 37 6 132006568 132006568 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:132006568C>T ENST00000414305.1 + 14 1513 c.1185C>T c.(1183-1185)ttC>ttT p.F395F ENPP3_ENST00000357639.3_Silent_p.F395F|ENPP3_ENST00000358229.5_Silent_p.F395F O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 395 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GAATAAACTTCTTCTACATGT 0.363000 96 71 0 0 0.000147903 0 0 OTOF 9381 broad.mit.edu 37 2 26699021 26699021 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:26699021G>A ENST00000272371.2 - 23 2967 c.2841C>T c.(2839-2841)ttC>ttT p.F947F OTOF_ENST00000338581.6_Silent_p.F200F|OTOF_ENST00000403946.3_Silent_p.F947F|OTOF_ENST00000402415.3_Silent_p.F257F|OTOF_ENST00000339598.3_Silent_p.F200F NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 947 C2 3. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACGGGTGGGAAGGCATGCA 0.667000 4 14 0 0 0.00024832 0 0 ARMC12 221481 broad.mit.edu 37 6 35715185 35715185 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:35715185C>T ENST00000373866.3 + 4 614 c.592C>T c.(592-594)Ctg>Ttg p.L198L ARMC12_ENST00000373869.3_Silent_p.L198L|ARMC12_ENST00000288065.2_Silent_p.L225L Q5T9G4 CF081_HUMAN armadillo repeat containing 12 198 binding GATGGAGATCCTGCAGTCAGA 0.592000 21 19 0 0 0.000375601 0 0 COL14A1 7373 broad.mit.edu 37 8 121293298 121293298 + Splice_Site SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:121293298G>A ENST00000297848.3 + 31 4094 c.3824_splice c.e31+1 p.R1275_splice COL14A1_ENST00000309791.4_Splice_Site_p.R1275_splice|COL14A1_ENST00000247781.3_Splice_Site_p.R1180_splice NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1275 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGCCAACCAGGTATGTTTCT 0.393000 27 43 0 0 0.000409698 0 0 PCCB 5096 broad.mit.edu 37 3 136019900 136019900 + Missense_Mutation SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:136019900A>G ENST00000471595.1 + 9 931 c.913A>G c.(913-915)Att>Gtt p.I305V PCCB_ENST00000466072.1_Missense_Mutation_p.I305V|PCCB_ENST00000483687.1_Missense_Mutation_p.I286V|PCCB_ENST00000251654.4_Missense_Mutation_p.I305V|PCCB_ENST00000462637.1_Missense_Mutation_p.I282V|PCCB_ENST00000482086.1_Missense_Mutation_p.I189V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.I325V|PCCB_ENST00000490504.1_Missense_Mutation_p.I248V|PCCB_ENST00000468777.1_Missense_Mutation_p.I336V P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 305 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) GCTTGACACAATTGTCCCTTT 0.468000 28 27 0 0 0.000279167 0 0 PHLDB2 90102 broad.mit.edu 37 3 111664167 111664167 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:111664167G>A ENST00000431670.2 + 9 2861 c.2450G>A c.(2449-2451)gGg>gAg p.G817E PHLDB2_ENST00000481953.1_Missense_Mutation_p.G774E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G774E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G801E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G817E|PHLDB2_ENST00000495180.1_Missense_Mutation_p.G403E NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 817 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTCTCTGGGGGGAAAGGGTTT 0.373000 36 56 0 0 0.000270559 0 0 KLK5 25818 broad.mit.edu 37 19 51452022 51452022 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:51452022G>A ENST00000336334.3 - 5 952 c.600C>T c.(598-600)ttC>ttT p.F200F KLK5_ENST00000593428.1_Silent_p.F200F|KLK5_ENST00000391809.2_Silent_p.F200F NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 200 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GGACCTTAGGGAAGTGCACTG 0.517000 35 18 0 0 0.000270559 0 0 TBX15 6913 broad.mit.edu 37 1 119469221 119469221 + Missense_Mutation SNP C C A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:119469221C>A ENST00000369429.3 - 3 442 c.433G>T c.(433-435)Gcc>Tcc p.A145S TBX15_ENST00000207157.3_Missense_Mutation_p.A39S Q96SF7 TBX15_HUMAN T-box 15 145 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) ACTCTCATGGCAGGAAACATC 0.403000 7 43 2.74318e-10 5.82427e-09 0.000442599 1 0 CCDC141 285025 broad.mit.edu 37 2 179730496 179730496 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr2:179730496C>T ENST00000420890.2 - 17 2839 c.2722G>A c.(2722-2724)Gag>Aag p.E908K CCDC141_ENST00000295723.5_Missense_Mutation_p.E333K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 333 protein binding 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) ACACCCACCTCATTTATCTCG 0.522000 92 194 0 0 0.000147903 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905881 144905881 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:144905881C>T ENST00000370490.1 + 1 6193 c.1938C>T c.(1936-1938)cgC>cgT p.R646R SLITRK2_ENST00000434188.2_Silent_p.R646R|SLITRK2_ENST00000413937.2_Silent_p.R646R|SLITRK2_ENST00000428560.2_Silent_p.R646R|SLITRK2_ENST00000447897.2_Silent_p.R646R Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 646 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGAAACGCCGAAAGGGAG 0.428000 27 88 0 0 0.000184323 0 0 NOX1 27035 broad.mit.edu 37 X 100125713 100125713 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:100125713G>A ENST00000372966.3 - 2 341 c.136C>T c.(136-138)Ctt>Ttt p.L46F NOX1_ENST00000372960.4_Missense_Mutation_p.L46F|NOX1_ENST00000372964.1_Missense_Mutation_p.L46F|NOX1_ENST00000217885.5_Missense_Mutation_p.L46F NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 46 angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 CTCACCCCAAGGATTTTTCTT 0.423000 55 99 0 0 0.000147903 0 0 CACTIN 58509 broad.mit.edu 37 19 3611986 3611986 + Missense_Mutation SNP A A G TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr19:3611986A>G ENST00000429344.2 - 10 2264 c.2212T>C c.(2212-2214)Tgc>Cgc p.C738R CACTIN_ENST00000248420.5_Missense_Mutation_p.C738R|CACTIN_ENST00000221899.3_Missense_Mutation_p.C670R|CACTIN-AS1_ENST00000592274.1_RNA NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit GCAAACTGGCAGCGGAAGCCG 0.637000 30 25 0 0 0.000279167 0 0 GCSAML 148823 broad.mit.edu 37 1 247712498 247712498 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:247712498G>A ENST00000366491.2 + 4 502 c.5G>A c.(4-6)gGa>gAa p.G2E GCSAML_ENST00000366488.4_Missense_Mutation_p.G2E|GCSAML_ENST00000366490.3_Missense_Mutation_p.E123K|GCSAML_ENST00000366489.1_Missense_Mutation_p.G2E|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_Missense_Mutation_p.G2E germinal center-associated, signaling and motility-like GAAAAGATGGGAAATTATCTC 0.483000 8 35 0 0 3.86212e-05 0 0 CHMP4B 128866 broad.mit.edu 37 20 32436418 32436418 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr20:32436418C>T ENST00000217402.2 + 2 501 c.336C>T c.(334-336)gcC>gcT p.A112A NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 112 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 TGGGCTATGCCGCCAAGGCCA 0.612000 12 37 0 0 0.000151284 0 0 RSBN1 54665 broad.mit.edu 37 1 114309021 114309021 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:114309021G>A ENST00000261441.5 - 7 2053 c.1990C>T c.(1990-1992)Cgt>Tgt p.R664C RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 664 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTAGCATAACGAATGCCTTCC 0.393000 59 35 0 0 0.000147903 0 0 PCLO 27445 broad.mit.edu 37 7 82584826 82584826 + Nonsense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:82584826G>A ENST00000423517.2 - 5 5780 c.5443C>T c.(5443-5445)Cga>Tga p.R1815* PCLO_ENST00000333891.8_Nonsense_Mutation_p.R1815* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1746 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTCTGAGCTCGAAGTTCATCT 0.403000 70 103 0 0 0.000147903 0 0 SDC2 6383 broad.mit.edu 37 8 97621634 97621634 + Missense_Mutation SNP T T C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr8:97621634T>C ENST00000302190.4 + 5 1385 c.464T>C c.(463-465)aTt>aCt p.I155T SDC2_ENST00000522911.1_Missense_Mutation_p.I126T|SDC2_ENST00000518385.1_Missense_Mutation_p.I119T|SDC2_ENST00000519914.1_Missense_Mutation_p.I126T NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 155 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) GGTGGAGTTATTGGCTTTCTC 0.403000 37 86 0 0 0.000147903 0 0 CRB1 23418 broad.mit.edu 37 1 197396583 197396583 + Splice_Site SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:197396583G>A ENST00000367397.1 + 3 1129 c.e3-1 CRB1_ENST00000367400.3_Splice_Site|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGACATTGAAGAGTATGTGGC 0.413000 11 55 0 0 0.000219431 0 0 SDK1 221935 broad.mit.edu 37 7 4116640 4116640 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr7:4116640C>T ENST00000404826.2 + 21 3160 c.3021C>T c.(3019-3021)atC>atT p.I1007I SDK1_ENST00000389531.3_Silent_p.I1007I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1007 Fibronectin type-III 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCTATCAGATCTCTTGGGAAG 0.552000 5 17 0 0 1.23904e-05 0 0 C6 729 broad.mit.edu 37 5 41149459 41149459 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:41149459G>A ENST00000263413.3 - 17 2771 c.2507C>T c.(2506-2508)tCc>tTc p.S836F C6_ENST00000337836.5_Missense_Mutation_p.S836F NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 836 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTCTTGGCAGGAACCAATATG 0.423000 57 89 0 0 0.000147903 0 0 SPON1 10418 broad.mit.edu 37 11 14284396 14284396 + RNA SNP G G A rs148033537 by1000genomes TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:14284396G>A ENST00000310358.7 + 0 2670 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ACTGTGCAGCGAAAAAAGTGC 0.547000 18 10 0 0 7.07596e-05 0 0 ELMOD1 55531 broad.mit.edu 37 11 107501439 107501439 + Silent SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:107501439G>A ENST00000265840.7 + 4 442 c.177G>A c.(175-177)agG>agA p.R59R ELMOD1_ENST00000443271.2_Silent_p.R59R|ELMOD1_ENST00000531234.1_Silent_p.R53R NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 59 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CATCACTGAGGGATTCTAAAA 0.308000 13 20 0 0 0.000566183 0 0 FANCD2 2177 broad.mit.edu 37 3 10089677 10089677 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr3:10089677C>T ENST00000287647.3 + 16 1448 c.1355C>T c.(1354-1356)tCa>tTa p.S452L FANCD2_ENST00000383807.1_Missense_Mutation_p.S452L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S452L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S452L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 452 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGTATAATTTCATTTGGCAGT 0.403000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 43 180 0 0 0.000589545 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37964165 37964165 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr22:37964165C>T ENST00000249014.4 + 3 934 c.514C>T c.(514-516)Ccg>Tcg p.P172S NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 172 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CTCGGAAAAGCCGCATGACCG 0.642000 23 65 0 0 0.00047179 0 0 KLHL35 283212 broad.mit.edu 37 11 75134908 75134908 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr11:75134908G>A ENST00000539798.1 - 5 1390 c.1391C>T c.(1390-1392)cCc>cTc p.P464L KLHL35_ENST00000376292.4_Missense_Mutation_p.P244L NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 244 lung(2)|stomach(1) 3 GTCCTCCTTGGGGTCAAAGCA 0.637000 10 14 0 0 0.000442599 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212168 26212168 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:26212168C>T ENST00000379034.1 + 2 354 c.205C>T c.(205-207)Ccc>Tcc p.P69S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 69 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGGAGTGTCACCCACTGGGTC 0.532000 32 57 0 0 0.000339439 0 0 TRIM36 55521 broad.mit.edu 37 5 114473250 114473250 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr5:114473250C>T ENST00000513154.1 - 6 1221 c.895G>A c.(895-897)Gaa>Aaa p.E299K TRIM36_ENST00000514154.1_Missense_Mutation_p.E156K|TRIM36_ENST00000282369.3_Missense_Mutation_p.E311K Q9NQ86 TRI36_HUMAN tripartite motif containing 36 311 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTCCTCTCTTCCAGAACTTCA 0.348000 58 47 0 0 0.000147903 0 0 SIAH3 283514 broad.mit.edu 37 13 46357566 46357566 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr13:46357566C>T ENST00000400405.2 - 2 868 c.762G>A c.(760-762)ggG>ggA p.G254G NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 254 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 TGATGGCAATCCCAATGGCAA 0.602000 37 77 0 0 0.000191422 0 0 OR2M3 127062 broad.mit.edu 37 1 248366638 248366638 + Missense_Mutation SNP A A C TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr1:248366638A>C ENST00000456743.1 + 1 307 c.269A>C c.(268-270)aAg>aCg p.K90T NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTGGCAGCAAGTCCATTTCT 0.502000 9 201 0 0 0.000442599 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797875 148797875 + Silent SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:148797875C>T ENST00000355220.5 + 5 831 c.729C>T c.(727-729)atC>atT p.I243I MAGEA11_ENST00000333104.4_Silent_p.I214I NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 243 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGGGGCTGATCACAAAGGCAG 0.423000 56 101 0 0 0.000147903 0 0 LINC00518 221718 broad.mit.edu 37 6 10430699 10430701 + RNA DEL TTT TTT - rs79230388 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:10430699_10430701delTTT ENST00000496285.1 - 0 489 NR_027793.1 CTCTGACTAGttttttttttttt 0.448 3 5 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595267 21595269 + In_Frame_Del DEL GGC GGC - TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr6:21595267_21595269delGGC ENST00000244745.1 + 1 1296_1298 c.502_504delGGC c.(502-504)del p.G173del SOX4_ENST00000543472.1_In_Frame_Del_p.G173del NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 173 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) cggccatgggggcggcggcggcg 0.739 2 4 --- --- --- --- YWHAEP7 284100 broad.mit.edu 37 17 36214141 36214141 + RNA DEL A A - rs76035088 TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chr17:36214141delA ENST00000590732.1 - 0 325 NR_024178.1 CAGCaaaattaaaaaaaaaaa 0.328 2 4 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73043137 73043140 + RNA DEL TTTC TTTC - TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc919c96-a1f6-430e-be76-581cae76f473 9c3d25af-4dda-422e-ae86-9a621a65706d g.chrX:73043137_73043140delTTTC ENST00000604411.1 + 0 31098_31101 XIST_ENST00000429829.1_lincRNA NR_003255.2 AACTTGCAtttttctttctttttt 0.348 2 4 --- --- --- ---