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 GAA 2548 broad.mit.edu 37 17 78082619 78082619 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78082619A>G ENST00000302262.3 + 8 1537 c.1318A>G c.(1318-1320)Atg>Gtg p.M440V GAA_ENST00000390015.3_Missense_Mutation_p.M440V NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 440 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GCGCTACATGATGATCGTGGT 0.642000 7 11 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138645190 138645190 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:138645190G>C ENST00000251691.4 + 31 5066 c.4900G>C c.(4900-4902)Gag>Cag p.E1634Q NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1634 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CAGCGGCACGGAGAGCTTCAG 0.652000 14 37 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85977208 85977208 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:85977208G>C ENST00000263360.6 + 8 1496 c.810G>C c.(808-810)atG>atC p.M270I EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Missense_Mutation_p.M270I|EED_ENST00000327320.4_Missense_Mutation_p.M270I NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 270 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) CAAAGAGAATGATGAATGCAA 0.303000 13 85 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58862857 58862857 + Silent SNP G G A rs140428520 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:58862857G>A ENST00000263100.3 - 5 871 c.810C>T c.(808-810)gcC>gcT p.A270A A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 270 Ig-like V-type 3. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CATCCCCCAGGGCCACCGCGT 0.632000 8 46 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3446124 3446124 + Missense_Mutation SNP G G C rs138611679 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:3446124G>C ENST00000382774.3 + 6 800 c.685G>C c.(685-687)Gag>Cag p.E229Q HGFAC_ENST00000511533.1_Missense_Mutation_p.E229Q NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 229 Fibronectin type-I. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGAACAGTGCGAGTGCTTCGG 0.677000 3 6 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927544 23927544 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:23927544T>C ENST00000402377.3 - 4 949 c.808A>G c.(808-810)Aca>Gca p.T270A ZNF681_ENST00000395385.3_Missense_Mutation_p.T201A NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GTATGTGTTGTAATGTGTGAC 0.353000 17 47 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263756 140263756 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140263756C>T ENST00000289272.2 + 1 1903 c.1903C>T c.(1903-1905)Cgc>Tgc p.R635C PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635C NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCACGACGCGCCCTCTGGA 0.677000 42 50 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60695278 60695278 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:60695278C>T ENST00000005286.4 + 3 634 c.481C>T c.(481-483)Cgg>Tgg p.R161W TMEM132A_ENST00000453848.2_Missense_Mutation_p.R161W NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 161 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCCCTGTGCCCGGCTCCATGC 0.652000 26 45 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85973956 85973956 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:85973956C>G ENST00000372117.3 + 17 2262 c.2159C>G c.(2158-2160)tCc>tGc p.S720C CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.S424C NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 720 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GTCCTCATCTCCACCGCCACC 0.637000 18 59 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107601691 107601691 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:107601691G>A ENST00000393561.1 - 15 2325 c.2141C>T c.(2140-2142)tCt>tTt p.S714F LAMB1_ENST00000222399.6_Missense_Mutation_p.S690F|LAMB1_ENST00000393560.1_Missense_Mutation_p.S690F P07942 LAMB1_HUMAN laminin, beta 1 690 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCGCTATCAGAGGAGGTGTA 0.547000 11 51 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53126796 53126796 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:53126796T>C ENST00000276480.7 - 7 705 c.22A>G c.(22-24)Aaa>Gaa p.K8E NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 8 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGCAGCGTTTTATCTTCAGCC 0.428000 29 47 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57548325 57548325 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:57548325G>T ENST00000243077.3 + 8 1534 c.1068G>T c.(1066-1068)caG>caT p.Q356H LRP1_ENST00000554174.1_Missense_Mutation_p.Q356H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 356 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGATGGGCAGAACCGCACCA 0.527000 10 27 2.17888e-05 2.24353e-05 1 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995510 57995510 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57995510C>T ENST00000316770.2 - 1 880 c.838G>A c.(838-840)Gcg>Acg p.A280T NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A280T(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TAGACCAACGCGATTTGGCTG 0.547000 23 118 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99337111 99337111 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:99337111A>G ENST00000376503.5 - 23 2049 c.1994T>C c.(1993-1995)aTc>aCc p.I665T NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 665 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCGAGCCATGATGGCAAAAAT 0.413000 6 45 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65265452 65265452 + RNA SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:65265452A>G ENST00000534336.1 + 0 220 NR_002819.2 AGGTGGTGGTATTTAGATAAA 0.507000 53 70 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10557396 10557396 + Missense_Mutation SNP C C T rs55683126 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:10557396C>T ENST00000316170.3 + 1 1157 c.740C>T c.(739-741)gCg>gTg p.A247V GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 249 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGAACAACAGCGTTGAAACCG 0.507000 8 175 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41766515 41766515 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:41766515G>A ENST00000379483.3 - 1 2187 c.1879C>T c.(1879-1881)Cag>Tag p.Q627* NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 627 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) ATAAAACTCTGACCAGGTTCA 0.438000 33 74 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216603 10216603 + Nonsense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:10216603A>T ENST00000418404.3 - 29 4216 c.4053T>A c.(4051-4053)taT>taA p.Y1351* MYH13_ENST00000252172.4_Nonsense_Mutation_p.Y1351*|RP11-401O9.4_ENST00000609088.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1351 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCTCCTCCTCATACTGTTCCC 0.602000 19 80 0 0 1 0 0 MRPL40 64976 broad.mit.edu 37 22 19423455 19423455 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:19423455G>C ENST00000333130.3 + 4 1244 c.591G>C c.(589-591)aaG>aaC p.K197N HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 197 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) ACATCACCAAGGTGTACACAC 0.502000 11 50 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27130395 27130395 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:27130395A>G ENST00000354828.3 + 6 1155 c.628A>G c.(628-630)Ata>Gta p.I210V GABPA_ENST00000400075.3_Missense_Mutation_p.I210V NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 210 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 CATGACCGATATAGACCTCAC 0.438000 11 68 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208233 140208233 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140208233G>A ENST00000529310.1 + 1 671 c.557G>A c.(556-558)aGt>aAt p.S186N PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S186N|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAATAAACAGTGATGACAAT 0.443000 34 56 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128036775 128036775 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:128036775T>C ENST00000493187.2 - 10 1975 c.1512A>G c.(1510-1512)ctA>ctG p.L504L ERCC3_ENST00000285398.2_Silent_p.L568L P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 568 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CATATTCCTTTAGGGCAAACA 0.428000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 22 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269137 28269137 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:28269137C>G ENST00000405948.2 + 7 1926 c.1506C>G c.(1504-1506)ttC>ttG p.F502L PGBD1_ENST00000259883.3_Missense_Mutation_p.F502L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 502 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AATTGATTTTCTCAAACCTGC 0.373000 47 117 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26140386 26140386 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:26140386C>T ENST00000361547.2 + 11 1457 c.1402C>T c.(1402-1404)Ctc>Ttc p.L468F SEPN1_ENST00000374315.1_Missense_Mutation_p.L434F|SEPN1_ENST00000354177.4_Missense_Mutation_p.L434F|SEPN1_ENST00000494537.1_3'UTR NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 468 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCGGACTCTCCGGGAGAC 0.602000 11 67 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308324 20308324 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:20308324G>A ENST00000335117.8 + 4 862 c.805G>A c.(805-807)Gaa>Aaa p.E269K CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 CTACATTTGTGAAGAATGTGG 0.373000 8 35 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139691860 139691860 + Splice_Site SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:139691860C>T ENST00000303045.6 - 40 3518 c.3072G>A c.(3070-3072)aaG>aaA p.K1024K COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1024 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTCACTGACCTTAACACATT 0.413000 HNSCC(7;0.00092) 12 70 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154471660 154471660 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:154471660G>A ENST00000304760.2 - 2 732 c.646C>T c.(646-648)Caa>Taa p.Q216* NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 216 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GCATCCCTTTGACCCTTTGTC 0.453000 26 62 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16990556 16990556 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:16990556G>A ENST00000377833.4 - 35 5195 c.5130C>T c.(5128-5130)agC>agT p.S1710S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1710 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCGTCAGGGCGCTGCTGAAGG 0.512000 15 25 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76908345 76908345 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:76908345G>A ENST00000285871.4 + 13 1748 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E255K NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 541 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GAAAGTAAATGAAATAAAAGA 0.308000 7 51 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58088057 58088057 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:58088057G>A ENST00000357272.4 + 9 1638 c.1473G>A c.(1471-1473)atG>atA p.M491I FLNB_ENST00000419752.2_Missense_Mutation_p.M322I|FLNB_ENST00000348383.5_Missense_Mutation_p.M491I|FLNB_ENST00000358537.3_Missense_Mutation_p.M491I|FLNB_ENST00000490882.1_Missense_Mutation_p.M491I|FLNB_ENST00000493452.1_Missense_Mutation_p.M322I|FLNB_ENST00000295956.4_Missense_Mutation_p.M491I|FLNB_ENST00000429972.2_Missense_Mutation_p.M491I O75369 FLNB_HUMAN filamin B, beta 491 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) GTGTAACCATGAAGGGTCCTA 0.522000 35 47 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080442 152080442 + Missense_Mutation SNP C C G rs71585886 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:152080442C>G ENST00000368804.1 - 2 5250 c.5251G>C c.(5251-5253)Gag>Cag p.E1751Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1751 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding p.E1751K(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCTTCCTCTAGGATTTTT 0.592000 23 69 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27405924 27405924 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:27405924C>G ENST00000379214.4 - 6 1091 c.648G>C c.(646-648)ctG>ctC p.L216L LGR4_ENST00000389858.4_Silent_p.L192L NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 216 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 AGTGTTGACTCAGGCTTCTAA 0.323000 32 42 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31591514 31591514 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:31591514C>T ENST00000379416.3 - 19 2041 c.1993G>A c.(1993-1995)Ggg>Agg p.G665R NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 665 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATGATATGCCCAACACAAGTA 0.443000 26 66 0 0 1 0 0 CDC16 8881 broad.mit.edu 37 13 115037904 115037904 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:115037904G>C ENST00000360383.3 + 18 2047 c.1849G>C c.(1849-1851)Gac>Cac p.D617H CDC16_ENST00000375308.1_Missense_Mutation_p.D523H|CDC16_ENST00000375312.3_Missense_Mutation_p.D472H|CDC16_ENST00000252457.5_Missense_Mutation_p.D616H|CDC16_ENST00000375310.1_Missense_Mutation_p.D523H|CDC16_ENST00000356221.3_Missense_Mutation_p.D617H|CDC16_ENST00000252458.6_Missense_Mutation_p.D472H|CDC16_ENST00000461716.1_3'UTR NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 617 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) ATCTATGTCAGACCACAGCAC 0.453000 36 17 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269477 28269477 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:28269477G>A ENST00000405948.2 + 7 2266 c.1846G>A c.(1846-1848)Gag>Aag p.E616K PGBD1_ENST00000259883.3_Missense_Mutation_p.E616K NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 616 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGTTCTTTTAGAGAGAGGTCA 0.418000 50 115 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476849 42476849 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:42476849A>T ENST00000434000.1 - 9 2644 c.2362T>A c.(2362-2364)Tcc>Acc p.S788T GPATCH8_ENST00000591680.1_Missense_Mutation_p.S866T Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 866 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GAACGCCGGGAGGAACGATGC 0.537000 35 93 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76995205 76995205 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:76995205G>C ENST00000538941.2 - 19 2587 c.1648C>G c.(1648-1650)Ctc>Gtc p.L550V SCAPER_ENST00000324767.7_Missense_Mutation_p.L796V|SCAPER_ENST00000563290.1_Missense_Mutation_p.L796V NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 795 Glu-rich. HEEKQ -> KKKKK (in Ref. 3; AAI07416). endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ACATTGCAGAGAGAACACTGC 0.358000 17 70 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589944 140589944 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140589944T>A ENST00000239450.2 + 1 1654 c.1465T>A c.(1465-1467)Tcg>Acg p.S489T PCDHB12_ENST00000541609.1_Missense_Mutation_p.S152T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 489 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCAACTACTCGCTGCTGCC 0.657000 16 102 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139915 50139915 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:50139915C>T ENST00000371564.3 - 2 1084 c.865G>A c.(865-867)Ggc>Agc p.G289S NFATC2_ENST00000414705.1_Missense_Mutation_p.G269S|NFATC2_ENST00000609943.1_Missense_Mutation_p.G269S|NFATC2_ENST00000610033.1_Missense_Mutation_p.G70S|NFATC2_ENST00000396009.3_Missense_Mutation_p.G289S|NFATC2_ENST00000609507.1_Missense_Mutation_p.G70S NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 289 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GCCGGGGAGCCGTGGTCCTGG 0.711000 4 14 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137790983 137790983 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:137790983A>T ENST00000315930.6 - 2 956 c.295T>A c.(295-297)Tac>Aac p.Y99N FGF13_ENST00000370603.3_Missense_Mutation_p.Y109N|FGF13_ENST00000305414.4_Missense_Mutation_p.Y46N|FGF13_ENST00000441825.2_Missense_Mutation_p.Y80N|FGF13_ENST00000541469.1_Missense_Mutation_p.Y53N NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 99 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CACTTACTGTAAGTGCTGTCC 0.383000 31 50 0 0 1 0 0 LOC643733 643733 broad.mit.edu 37 11 104776315 104776315 + RNA SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:104776315C>T ENST00000532510.1 - 0 3117 ATGCCTTGGGCTATGACCTTC 0.383000 13 14 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743576 38743576 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743576C>G ENST00000449082.2 - 26 4410 c.4411G>C c.(4411-4413)Gac>Cac p.D1471H NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1471 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTCACGATGTCAAAGACAAAA 0.458000 17 80 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33626305 33626305 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:33626305T>C ENST00000399362.4 - 22 2529 c.2176A>G c.(2176-2178)Aga>Gga p.R726G CLASP2_ENST00000539981.1_Missense_Mutation_p.R496G|CLASP2_ENST00000480013.1_Missense_Mutation_p.R493G|CLASP2_ENST00000307312.7_Missense_Mutation_p.R215G|CLASP2_ENST00000359576.5_Missense_Mutation_p.R726G|CLASP2_ENST00000468888.2_Missense_Mutation_p.R727G|CLASP2_ENST00000461133.3_Missense_Mutation_p.R493G NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 727 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 ATCTTGCTTCTTTTTTGTGCT 0.473000 31 38 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54265480 54265480 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:54265480G>A ENST00000354646.2 - 18 4142 c.3704C>T c.(3703-3705)gCt>gTt p.A1235V WNK3_ENST00000375159.2_Missense_Mutation_p.A1235V|WNK3_ENST00000375169.3_Missense_Mutation_p.A1235V NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1235 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GCTTGACACAGCAGCAGGATA 0.428000 3 17 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1479749 1479749 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:1479749T>A ENST00000283415.3 - 8 935 c.803A>T c.(802-804)cAa>cTa p.Q268L NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 268 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) GATTTCCACTTGGTTGTGAAA 0.448000 OREG0016481 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 26 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032651 30032651 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:30032651C>G ENST00000328224.6 - 2 2808 c.1575G>C c.(1573-1575)gtG>gtC p.V525V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 525 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCCATAGCCCACAGTTGTCA 0.517000 14 40 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077323 41077323 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:41077323C>T ENST00000249016.4 + 2 1356 c.660C>T c.(658-660)tcC>tcT p.S220S MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 220 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CCATCTCTTCCACGAAGTTCC 0.587000 26 51 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67222934 67222934 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:67222934C>G ENST00000325656.5 + 1 117 c.40C>G c.(40-42)Ctg>Gtg p.L14V CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 14 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GGGCCCAAATCTGGCCATTGG 0.632000 5 5 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160808273 160808273 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:160808273C>G ENST00000368034.4 - 5 979 c.802G>C c.(802-804)Gat>Cat p.D268H CD244_ENST00000368033.3_Missense_Mutation_p.D273H|CD244_ENST00000322302.7_Missense_Mutation_p.D176H|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.D268H NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 273 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCCTTGACATCTTCGTAAATT 0.453000 140 80 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151902229 151902229 + Nonsense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:151902229G>C ENST00000355193.2 - 25 4141 c.3923C>G c.(3922-3924)tCa>tGa p.S1308* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1308* lysine (K)-specific methyltransferase 2C AATAGAGCCTGAGGAATCTTT 0.358000 5 25 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104174879 104174879 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:104174879C>T ENST00000020673.5 - 4 1391 c.865G>A c.(865-867)Gac>Aac p.D289N PSD_ENST00000406432.1_Missense_Mutation_p.D289N NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 289 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGCACCGTGTCCAGGTCTGTC 0.672000 8 43 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34864917 34864917 + Silent SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:34864917C>A ENST00000431794.3 - 14 1737 c.1215G>T c.(1213-1215)tcG>tcT p.S405S MYO19_ENST00000268852.9_Silent_p.S405S NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 405 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGTGGTCCACGAGTCGGTGT 0.547000 12 17 9.05144e-12 1.00027e-11 1 1 0 MIRLET7E 406887 broad.mit.edu 37 19 52196182 52196182 + RNA SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:52196182A>G ENST00000602324.1 - 0 527 NR_029482.1|NR_029693.1 CCTTAGCCCCACTGGGCTGCC 0.652000 11 15 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943551 98943551 + Silent SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:98943551G>C ENST00000254898.5 + 3 744 c.513G>C c.(511-513)ggG>ggC p.G171G MATN2_ENST00000520016.1_Silent_p.G171G|MATN2_ENST00000521689.1_Silent_p.G171G|MATN2_ENST00000524308.1_Silent_p.G171G|MATN2_ENST00000522025.2_Intron NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 171 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGACAGATGGGAGACCTCAGG 0.582000 7 31 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564283 176564283 + Nonsense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:176564283G>T ENST00000367662.3 + 3 2707 c.1543G>T c.(1543-1545)Gga>Tga p.G515* PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.G515* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 515 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAGTACAATGGATACTGGCC 0.537000 13 118 5.50884e-06 5.72325e-06 1 1 0 ROPN1L 83853 broad.mit.edu 37 5 10461368 10461368 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:10461368C>T ENST00000503804.1 + 5 1011 c.490C>T c.(490-492)Ccc>Tcc p.P164S ROPN1L_ENST00000274134.4_Missense_Mutation_p.P164S|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 164 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CGCTCGCATCCCCTTCAAGAC 0.567000 18 105 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116732026 116732026 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:116732026C>T ENST00000298746.3 + 6 790 c.729C>T c.(727-729)ttC>ttT p.F243F NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 243 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CACCATTTTTCACATTAGGTA 0.358000 30 52 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509826 63509826 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:63509826C>A ENST00000389100.4 + 4 745 c.673C>A c.(673-675)Cat>Aat p.H225N RNF180_ENST00000296615.6_Missense_Mutation_p.H225N|RNF180_ENST00000381081.2_Intron NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 225 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AAGAGCTTTTCATAGAAAATC 0.388000 31 46 1.08312e-15 1.20462e-15 1 1 0 MXD1 4084 broad.mit.edu 37 2 70164512 70164512 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:70164512C>G ENST00000264444.2 + 5 724 c.464C>G c.(463-465)tCc>tGc p.S155C MXD1_ENST00000540449.1_Missense_Mutation_p.S145C NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 155 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TCGGAGCGCTCCGACTCCGAC 0.627000 19 42 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79441572 79441572 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:79441572C>G ENST00000376718.3 - 5 708 c.585G>C c.(583-585)ctG>ctC p.L195L PRUNE2_ENST00000376713.3_Silent_p.L195L|PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 195 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATTTTTCTTCCAGGATAGAAA 0.443000 16 88 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580244 35580244 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:35580244G>C ENST00000373330.1 + 11 2987 c.2813G>C c.(2812-2814)aGa>aCa p.R938T ZMYM1_ENST00000359858.4_Missense_Mutation_p.R938T|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 938 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTCAGAAAAGAAGAAAAATT 0.284000 4 54 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154659794 154659794 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:154659794G>T ENST00000404039.1 + 18 2199 c.1612G>T c.(1612-1614)Gat>Tat p.D538Y DPP6_ENST00000377770.3_Missense_Mutation_p.D602Y|DPP6_ENST00000332007.3_Missense_Mutation_p.D540Y|DPP6_ENST00000427557.1_Missense_Mutation_p.D495Y NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 602 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CATTGAGATTGATGATTACAG 0.413000 4 12 0.00909568 0.009175 1 1 0 UBASH3A 53347 broad.mit.edu 37 21 43836631 43836631 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:43836631G>C ENST00000319294.6 + 6 779 c.748G>C c.(748-750)Gag>Cag p.E250Q UBASH3A_ENST00000291535.6_Missense_Mutation_p.E212Q|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E212Q NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 250 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GAGGACGCTGGAGCAGCTGGC 0.597000 16 21 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117063363 117063363 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:117063363C>T ENST00000324225.4 + 21 2586 c.2055C>T c.(2053-2055)taC>taT p.Y685Y SIDT2_ENST00000532062.1_5'UTR|SIDT2_ENST00000431081.2_Silent_p.Y682Y NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 685 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGCCGCTCTACGTGGTACCTG 0.632000 11 26 0 0 1 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859361 149859361 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:149859361G>C ENST00000331128.3 - 1 105 c.106C>G c.(106-108)Cgc>Ggc p.R36G NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 36 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTGCCTTTGCGCAGCAAGCGG 0.697000 20 99 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128322 147128322 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:147128322C>G ENST00000282928.4 + 1 1152 c.423C>G c.(421-423)ctC>ctG p.L141L NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 141 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CGGGCCACCTCCTCTTCCCCG 0.726000 3 18 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202702685 202702685 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:202702685T>A ENST00000367265.3 - 23 4917 c.3753A>T c.(3751-3753)gcA>gcT p.A1251A KDM5B_ENST00000367264.2_Silent_p.A1287A NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1251 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TATATCGAAGTGCATCTCCCT 0.512000 14 57 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368693 22368693 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:22368693C>A ENST00000332663.2 + 1 216 c.118C>A c.(118-120)Cca>Aca p.P40T RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTCATCCTACCAGGAAATAT 0.418000 44 389 1.62957e-23 1.84189e-23 1 1 0 MGAT4A 11320 broad.mit.edu 37 2 99294780 99294780 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:99294780C>G ENST00000264968.3 - 2 612 c.249G>C c.(247-249)ttG>ttC p.L83F MGAT4A_ENST00000409391.1_Missense_Mutation_p.L83F|MGAT4A_ENST00000393487.1_Missense_Mutation_p.L83F Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AAAACTTATTCAACGCATCCT 0.294000 17 108 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199049 86199049 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:86199049G>T ENST00000361228.3 - 2 1107 c.739C>A c.(739-741)Cta>Ata p.L247I NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 247 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCAAGTCTAGATTTTGCTCA 0.403000 19 85 1.01871e-10 1.11512e-10 1 1 0 CSTF2T 23283 broad.mit.edu 37 10 53457995 53457995 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:53457995C>G ENST00000331173.4 - 1 1360 c.1315G>C c.(1315-1317)Gag>Cag p.E439Q PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 439 9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GCACAGGTCTCCATTCCTCTC 0.537000 19 66 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743492 38743492 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743492C>G ENST00000449082.2 - 26 4494 c.4495G>C c.(4495-4497)Gac>Cac p.D1499H NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1499 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCACTTTGGTCATCAGTCTCC 0.458000 31 89 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129688905 129688905 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:129688905C>G ENST00000358303.4 - 2 310 c.226G>C c.(226-228)Gaa>Caa p.E76Q ZC3HC1_ENST00000311873.5_Missense_Mutation_p.E55Q|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.E76Q|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.E76Q NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 76 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) AAGAAGGCTTCTTTGCTTGTA 0.408000 32 61 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491799 151491799 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:151491799G>A ENST00000271636.7 + 2 937 c.804G>A c.(802-804)caG>caA p.Q268Q NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 262 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTTCTCGTCAGACTCAGGACT 0.567000 13 31 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18256002 18256002 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:18256002C>G ENST00000397239.3 - 6 980 c.533G>C c.(532-534)aGg>aCg p.R178T DEK_ENST00000244776.7_Missense_Mutation_p.R144T NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 178 SAP. chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) ATTCAAGATCCTCTTCACTAG 0.333000 T NUP214 AML 14 231 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36512195 36512195 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:36512195C>T ENST00000526995.1 - 7 1008 c.762G>A c.(760-762)caG>caA p.Q254Q TRAF6_ENST00000348124.5_Silent_p.Q254Q|TRAF6_ENST00000529150.1_5'UTR NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 254 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) AGTGATTCCTCTGCATCTAAA 0.473000 28 57 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3077181 3077181 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:3077181A>G ENST00000259808.4 + 2 422 c.124A>G c.(124-126)Atg>Gtg p.M42V RIPK1_ENST00000380409.2_Missense_Mutation_p.M42V|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_Missense_Mutation_p.M42V Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 42 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) CCAGGGACTCATGATCATGAA 0.527000 17 33 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6679429 6679429 + Missense_Mutation SNP C C T rs142868256 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:6679429C>T ENST00000245907.6 - 37 4627 c.4535G>A c.(4534-4536)cGc>cAc p.R1512H C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1512 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTCAGCACAGCGGCACAGTTC 0.572000 38 77 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146673612 146673612 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:146673612G>C ENST00000392299.2 + 5 1883 c.1413G>C c.(1411-1413)gaG>gaC p.E471D GRM1_ENST00000361719.2_Missense_Mutation_p.E471D|GRM1_ENST00000355289.4_Missense_Mutation_p.E471D|GRM1_ENST00000492807.2_Missense_Mutation_p.E471D|GRM1_ENST00000282753.1_Missense_Mutation_p.E471D|GRM1_ENST00000507907.1_Missense_Mutation_p.E471D Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 471 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGTTTGATGAGAAAGGAGACG 0.493000 54 110 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20890060 20890060 + Missense_Mutation SNP C C A rs148373790 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:20890060C>A ENST00000381552.1 + 11 1770 c.1402C>A c.(1402-1404)Cat>Aat p.H468N SLCO1C1_ENST00000545604.1_Missense_Mutation_p.H468N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.H419N|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.H468N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.H350N Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 468 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H468Y(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TGTCTCTTATCATGAACGAGC 0.358000 4 27 1 1 1 1 0 PNLIP 5406 broad.mit.edu 37 10 118306905 118306905 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:118306905A>G ENST00000369221.2 + 3 174 c.146A>G c.(145-147)aAa>aGa p.K49R PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 49 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGTCTCCAAAAGATGTCAAC 0.443000 11 65 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66083712 66083712 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:66083712C>G ENST00000349533.6 + 16 2463 c.2278C>G c.(2278-2280)Cta>Gta p.L760V LEPR_ENST00000371059.3_Missense_Mutation_p.L760V|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.L760V|LEPR_ENST00000344610.8_Missense_Mutation_p.L760V|LEPR_ENST00000371058.1_Missense_Mutation_p.L760V NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 760 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCCTGGATACTATCACCCAG 0.318000 13 55 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328580 80328580 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:80328580C>T ENST00000358842.3 - 1 792 c.775G>A c.(775-777)Gac>Aac p.D259N NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 259 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GCACATTGGTCCCCCAAACAC 0.458000 29 68 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659424 176659424 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:176659424A>G ENST00000367662.3 + 5 3453 c.2289A>G c.(2287-2289)ccA>ccG p.P763P PAPPA2_ENST00000367661.3_Silent_p.P763P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 763 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGACAGTGCCATCCATGGAAA 0.552000 19 339 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080319 152080319 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:152080319C>G ENST00000368804.1 - 2 5373 c.5374G>C c.(5374-5376)Gag>Cag p.E1792Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1792 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCAGACTCTTGGCTGCGC 0.602000 25 75 0 0 1 0 0 GDF5OS 554250 broad.mit.edu 37 20 34022096 34022096 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:34022096G>A ENST00000374375.1 + 2 582 c.140G>A c.(139-141)aGg>aAg p.R47K GDF5_ENST00000374369.3_Silent_p.L373L|GDF5_ENST00000374372.1_Silent_p.L373L cervix(1)|endometrium(4)|lung(4) 9 TGGCTGAACAGGTACTCATAC 0.597000 57 114 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20711554 20711554 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:20711554G>T ENST00000315409.2 + 1 657 c.604G>T c.(604-606)Gct>Tct p.A202S NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) CTGTGCCCCAGCTCCCATAAC 0.433000 66 98 2.01871e-26 2.28919e-26 1 1 0 AC005609.1 0 broad.mit.edu 37 5 140242768 140242768 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140242768C>G ENST00000502505.1 - 1 456 c.208G>C c.(208-210)Gtg>Ctg p.V70L PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron GCCACCGTCACCGTGGTGGCG 0.677000 10 25 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22646159 22646159 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:22646159G>C ENST00000333957.4 - 11 1515 c.1260C>G c.(1258-1260)atC>atG p.I420M C2CD5_ENST00000396028.2_Missense_Mutation_p.I411M|C2CD5_ENST00000542676.1_Missense_Mutation_p.I420M|C2CD5_ENST00000536386.1_Missense_Mutation_p.I422M|C2CD5_ENST00000446597.1_Missense_Mutation_p.I420M|C2CD5_ENST00000545552.1_Missense_Mutation_p.I433M|C2CD5_ENST00000544930.1_Missense_Mutation_p.I235M NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TCATTTACCAGATGCTAGTTG 0.383000 17 92 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52220265 52220265 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:52220265C>T ENST00000540069.2 - 3 941 c.881G>A c.(880-882)tGt>tAt p.C294Y HAS1_ENST00000222115.1_Missense_Mutation_p.C295Y|HAS1_ENST00000594621.1_Missense_Mutation_p.C149Y|HAS1_ENST00000601714.1_Missense_Mutation_p.C302Y Q92839 HAS1_HUMAN hyaluronan synthase 1 295 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTAGCTCTGACAAGCCCGCTC 0.577000 53 159 0 0 1 0 0 OGN 4969 broad.mit.edu 37 9 95152326 95152326 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:95152326C>G ENST00000262551.4 - 5 860 c.440G>C c.(439-441)aGa>aCa p.R147T OGN_ENST00000468743.1_5'UTR|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R147T NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 147 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 AAAATCGAGTCTTCTTAAGTT 0.294000 13 33 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933335 44933335 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:44933335C>T ENST00000291187.4 - 6 1925 c.1603G>A c.(1603-1605)Gga>Aga p.G535R ZNF229_ENST00000588931.1_Missense_Mutation_p.G541R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G541*(1) breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGTTTCTCTCCTGTGTGCAGT 0.512000 145 87 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139389 90139389 + RNA SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:90139389T>C ENST00000492446.1 + 0 187 TATTAGCAGCTGGTTAGCCTG 0.527000 53 169 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081382 126081382 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:126081382C>T ENST00000298317.4 - 1 205 c.152G>A c.(151-153)cGa>cAa p.R51Q RPUSD4_ENST00000533628.1_Missense_Mutation_p.R51Q|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 51 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TTTCTGGGCTCGGAGCTTCTC 0.567000 61 80 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136192446 136192446 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:136192446G>C ENST00000383202.2 - 11 1316 c.1060C>G c.(1060-1062)Ctg>Gtg p.L354V STAG1_ENST00000236698.5_Missense_Mutation_p.L354V|STAG1_ENST00000434713.2_Missense_Mutation_p.L128V NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 354 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 AGACTCTGCAGAGCTTTCAAA 0.338000 22 49 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944672 4944672 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:4944672G>T ENST00000321961.2 - 1 965 c.898C>A c.(898-900)Caa>Aaa p.Q300K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCGAATTTGCTTGGTCTTG 0.423000 16 42 0.000308642 0.000315926 1 1 0 IRGQ 126298 broad.mit.edu 37 19 44097062 44097062 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:44097062G>A ENST00000422989.1 - 3 1143 c.988C>T c.(988-990)Cgc>Tgc p.R330C IRGQ_ENST00000602269.1_Missense_Mutation_p.R330C|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Missense_Mutation_p.R43C NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 330 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) CCGTCTGTGCGCACGCAGACA 0.632000 13 264 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114823367 114823367 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:114823367C>T ENST00000310346.4 - 7 1335 c.669G>A c.(667-669)acG>acA p.T223T TBX5_ENST00000405440.2_Silent_p.T223T|TBX5_ENST00000349716.5_Silent_p.T173T|TBX5_ENST00000526441.1_Silent_p.T223T NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 223 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.T223T(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCTTTAATTGCGTGATCTGAA 0.418000 5 23 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099693 91099693 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:91099693G>A ENST00000371818.4 + 2 1461 c.1281G>A c.(1279-1281)caG>caA p.Q427Q LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Silent_p.Q427Q NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 427 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 TTCATAAGCAGAATGGAGATC 0.433000 8 51 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44531625 44531625 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:44531625A>T ENST00000591793.1 + 3 328 c.245A>T c.(244-246)cAa>cTa p.Q82L ZNF222_ENST00000587846.1_Missense_Mutation_p.Q82L|ZNF222_ENST00000187879.8_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Q82L|ZNF222_ENST00000590160.1_3'UTR Q9UK11 ZN223_HUMAN zinc finger protein 223 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) ACAACAAGCCAAAGAGAAGGG 0.453000 107 57 0 0 1 0 0 PLOD2 5352 broad.mit.edu 37 3 145790403 145790403 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:145790403T>A ENST00000282903.5 - 17 1970 c.1793A>T c.(1792-1794)gAt>gTt p.D598V RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.D543V|PLOD2_ENST00000360060.3_Missense_Mutation_p.D577V|PLOD2_ENST00000461497.1_Missense_Mutation_p.D258V NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 577 R -> H (in BRKS2). protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TACCAATTCATCACAGGCTTT 0.363000 12 39 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743601 38743601 + Splice_Site SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743601C>G ENST00000449082.2 - 26 4386 c.e26-1 NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGAACTTGTTCTGAGAAAACA 0.468000 16 66 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78519560 78519560 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78519560C>G ENST00000306801.3 + 1 493 c.131C>G c.(130-132)tCc>tGc p.S44C RPTOR_ENST00000570891.1_Missense_Mutation_p.S44C|RPTOR_ENST00000544334.2_Missense_Mutation_p.S44C|RPTOR_ENST00000537330.1_5'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 44 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GGCTCCAAATCCTTAGCTCAG 0.478000 20 91 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70048284 70048284 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:70048284C>G ENST00000358769.2 - 8 849 c.647G>C c.(646-648)aGa>aCa p.R216T PBLD_ENST00000336578.1_Missense_Mutation_p.R183T|PBLD_ENST00000432941.1_Missense_Mutation_p.R216T|PBLD_ENST00000495025.2_Missense_Mutation_p.R216T|PBLD_ENST00000309049.4_Missense_Mutation_p.R216T NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 216 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGCAAAATATCTTGAGTAAAA 0.468000 16 50 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587908 55587908 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:55587908C>G ENST00000333976.4 + 1 823 c.803C>G c.(802-804)tCc>tGc p.S268C NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCAAAAACTCCAGGCACACA 0.507000 32 59 0 0 1 0 0 C7orf33 202865 broad.mit.edu 37 7 148312489 148312489 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:148312489G>A ENST00000307003.2 + 3 891 c.530G>A c.(529-531)aGt>aAt p.S177N NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 177 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACTGACAGCAGTTAAGAATTT 0.378000 20 72 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122626260 122626260 + Silent SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:122626260C>A ENST00000263461.6 + 8 1420 c.1174C>A c.(1174-1176)Cga>Aga p.R392R NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 392 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AGTTTGTAATCGAAATTCACG 0.393000 31 56 2.81731e-10 3.0646e-10 1 1 0 PSG2 5670 broad.mit.edu 37 19 43579628 43579628 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:43579628G>C ENST00000406487.1 - 3 685 c.587C>G c.(586-588)tCc>tGc p.S196C NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 196 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GTTGGTTTCGGACAGCTGAAA 0.493000 126 814 0 0 1 0 0 RPL3L 6123 broad.mit.edu 37 16 1996698 1996698 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:1996698C>T ENST00000268661.7 - 7 973 c.879G>A c.(877-879)atG>atA p.M293I NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 293 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 TCCCGTCCTCCATGTGCGGGC 0.652000 9 30 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100992518 100992518 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:100992518G>A ENST00000193391.7 - 7 922 c.735C>T c.(733-735)ttC>ttT p.F245F NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 245 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGTGGATACTGAATTCTGCAA 0.403000 11 24 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135523856 135523856 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:135523856T>A ENST00000372159.3 - 10 1289 c.1138A>T c.(1138-1140)Agt>Tgt p.S380C DDX31_ENST00000372153.1_Missense_Mutation_p.S380C|DDX31_ENST00000438527.3_Missense_Mutation_p.S251C|DDX31_ENST00000310532.2_Missense_Mutation_p.S380C NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 380 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CGCAGCCGACTAAAATGAATG 0.433000 37 112 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934813 30934813 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:30934813C>A ENST00000355537.3 + 2 491 c.344C>A c.(343-345)tCc>tAc p.S115Y NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCATCATGTCCCAGATGAGC 0.642000 6 70 0.0215528 0.0216777 1 1 0 CYP27B1 1594 broad.mit.edu 37 12 58158842 58158842 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:58158842C>A ENST00000228606.4 - 4 951 c.742G>T c.(742-744)Ggg>Tgg p.G248W NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 248 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCCCAGGGCCCAGGCACAAGG 0.622000 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 54 7.93312e-07 8.44415e-07 1 1 0 KCNQ4 9132 broad.mit.edu 37 1 41282936 41282936 + Splice_Site SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:41282936G>C ENST00000347132.5 + 2 396 c.e2-1 KCNQ4_ENST00000509682.2_Splice_Site NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGTAATTGCAGATTTTTGCTG 0.522000 4 28 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:178952085A>T ENST00000263967.3 + 21 3297 c.3140A>T c.(3139-3141)cAt>cTt p.H1047L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 41 55 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49643235 49643235 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:49643235C>T ENST00000334186.4 + 18 2607 c.2258C>T c.(2257-2259)tCt>tTt p.S753F PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 753 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACCCCAGATTCTCTGCACAAA 0.562000 68 110 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3298929 3298929 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:3298929C>G ENST00000219596.1 - 4 1375 c.1336G>C c.(1336-1338)Gag>Cag p.E446Q MEFV_ENST00000339854.4_Missense_Mutation_p.E266Q|MEFV_ENST00000536379.1_Missense_Mutation_p.E235Q|MEFV_ENST00000541159.1_Missense_Mutation_p.E235Q NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 446 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACTGCCTTCTCCTCCCCATAG 0.532000 20 128 0 0 1 0 0 OOSP2 219990 broad.mit.edu 37 11 59807984 59807984 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:59807984G>A ENST00000278855.2 + 1 237 c.52G>A c.(52-54)Gag>Aag p.E18K PLAC1L_ENST00000532905.1_5'UTR NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 18 extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 GACCGGTGCTGAGAACCTCCA 0.458000 31 79 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80658990 80658990 + Splice_Site SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:80658990G>T ENST00000458043.2 + 19 2203 c.2197G>T c.(2197-2199)Gct>Tct p.A733S OTOGL_ENST00000547103.1_Splice_Site_p.A733S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTCTTTCTGTGGTGAGTACAA 0.418000 13 17 2.27111e-07 2.43986e-07 1 1 0 CHD2 1106 broad.mit.edu 37 15 93563489 93563489 + Splice_Site SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:93563489G>A ENST00000394196.4 + 38 6221 c.e38+1 CHD2_ENST00000557381.1_Silent_p.R1718R NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATTATGACAGGTATGCAAAAG 0.463000 17 26 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45746744 45746744 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:45746744G>A ENST00000403390.1 + 23 2483 c.2483G>A c.(2482-2484)tGa>tAa p.*828* PFKL_ENST00000349048.4_Silent_p.*781* P17858 K6PL_HUMAN phosphofructokinase, liver 0 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) AAGGGCTTCTGAGGCCAGCCA 0.667000 5 4 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164769086 164769086 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:164769086G>A ENST00000420696.2 + 4 849 c.661G>A c.(661-663)Gag>Aag p.E221K PBX1_ENST00000367897.1_Missense_Mutation_p.E221K|PBX1_ENST00000559240.1_Missense_Mutation_p.E221K|PBX1_ENST00000540236.1_Missense_Mutation_p.E221K|PBX1_ENST00000401534.1_Missense_Mutation_p.E221K|PBX1_ENST00000540246.1_Missense_Mutation_p.E116K|PBX1_ENST00000560641.1_Missense_Mutation_p.E116K NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 221 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GAGCACGTGCGAGGCGGTGAT 0.612000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 8 112 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68248244 68248244 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:68248244C>T ENST00000329524.4 + 10 3143 c.3119C>T c.(3118-3120)tCt>tTt p.S1040F NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.5_ENST00000569088.1_RNA|NFATC3_ENST00000575270.1_Intron|NFATC3_ENST00000349223.5_Intron|NFATC3_ENST00000346183.3_Intron NM_004555.3 NP_004546.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 0 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CAATTTATATCTGACTTGGAA 0.443000 6 47 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33235699 33235699 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:33235699C>G ENST00000445902.2 - 9 1094 c.876G>C c.(874-876)ctG>ctC p.L292L VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.L167L|VPS52_ENST00000482399.1_3'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 292 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 AAATCTTGCTCAGCGTCTCCA 0.522000 29 44 0 0 1 0 0 RPS20 6224 broad.mit.edu 37 8 56986683 56986683 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:56986683C>T ENST00000519807.1 - 2 164 c.39G>A c.(37-39)ccG>ccA p.P13P RPS20_ENST00000519606.1_Silent_p.P13P|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000521262.1_Silent_p.P13P|RPS20_ENST00000518875.1_Silent_p.P13P|RPS20_ENST00000523936.1_Silent_p.P13P|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000009589.3_Silent_p.P13P NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) TTGCCACCTCCGGCTCCACGG 0.463000 11 98 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866323 139866323 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:139866323G>A ENST00000370532.2 - 1 400 c.209C>T c.(208-210)tCg>tTg p.S70L NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 70 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CATAGCTTCCGAAAAATCCAG 0.453000 34 40 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28208582 28208582 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:28208582G>A ENST00000373921.3 + 4 751 c.747G>A c.(745-747)ctG>ctA p.L249L THEMIS2_ENST00000328928.7_Silent_p.L249L|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CGCTGCTGCTGAGCGAGGTCC 0.637000 15 46 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73067780 73067780 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:73067780G>A ENST00000263674.3 + 7 4217 c.3867G>A c.(3865-3867)ctG>ctA p.L1289L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1289 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGCGGTTCCTGAGACAGGAGA 0.552000 7 35 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184385 130184385 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:130184385C>G ENST00000422113.2 - 2 1264 c.938G>C c.(937-939)aGa>aCa p.R313T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 313 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGTGGAATTTCTGGAGATGGA 0.502000 6 39 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088096 43088096 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:43088096G>A ENST00000359467.3 - 5 2416 c.2302C>T c.(2302-2304)Cag>Tag p.Q768* ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 768 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TGTGTTCTCTGATGTACAATG 0.398000 26 175 0 0 1 0 0 C10orf88 80007 broad.mit.edu 37 10 124708192 124708192 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:124708192C>T ENST00000481909.1 - 4 845 c.621G>A c.(619-621)ttG>ttA p.L207L C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 207 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) CCATATCCATCAACTGCTGAG 0.413000 10 42 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27608625 27608625 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:27608625T>A ENST00000344034.4 - 4 662 c.398A>T c.(397-399)gAt>gTt p.D133V PPM1G_ENST00000350803.4_Missense_Mutation_p.D133V NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 133 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ATCATCTTCATCAGCTACTTT 0.393000 32 66 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21229431 21229431 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:21229431C>T ENST00000540229.1 + 15 2041 c.1976C>T c.(1975-1977)aCg>aTg p.T659M LST3_ENST00000381541.3_Missense_Mutation_p.T598M|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.R52C|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.T551M|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T659M|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.T598M ATTGATACAACGTGTATGAAG 0.363000 29 84 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81063832 81063832 + Missense_Mutation SNP A A C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:81063832A>C ENST00000334512.5 + 19 2758 c.2186A>C c.(2185-2187)gAt>gCt p.D729A NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 729 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AACGGGGAGGATGGGGTGGAG 0.617000 10 36 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087819 49087819 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:49087819C>A ENST00000261900.3 - 9 1400 c.1178G>T c.(1177-1179)cGc>cTc p.R393L NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 393 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 ATGCTTCGCGCGGTATTCTTT 0.448000 32 160 3.99451e-17 4.50031e-17 1 1 0 UNC93B1 81622 broad.mit.edu 37 11 67766749 67766749 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:67766749G>C ENST00000227471.2 - 5 660 c.581C>G c.(580-582)tCc>tGc p.S194C UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 194 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome CTTGTAGTGGGAGTACTCATG 0.612000 17 17 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157650526 157650526 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:157650526C>T ENST00000368184.3 - 13 2283 c.1992G>A c.(1990-1992)caG>caA p.Q664Q FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Q664Q NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 664 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TGCTCCAGATCTGGGAATAAA 0.433000 31 53 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674760 167674760 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:167674760G>C ENST00000519204.1 + 26 6571 c.6453G>C c.(6451-6453)caG>caC p.Q2151H TENM2_ENST00000520394.1_Missense_Mutation_p.Q2033H|TENM2_ENST00000518659.1_Missense_Mutation_p.Q2272H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2271H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q2096H teneurin transmembrane protein 2 ATCTGTGCCAGAGAGGGTCTG 0.542000 12 58 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41076526 41076526 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:41076526A>T ENST00000352632.3 + 33 7297 c.7211A>T c.(7210-7212)cAg>cTg p.Q2404L SPTBN4_ENST00000392025.1_Missense_Mutation_p.Q1147L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Q2404L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2404 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gccccggcccagggcggctcc 0.786000 4 2 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4623543 4623543 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:4623543C>T ENST00000300747.5 - 4 911 c.622G>A c.(622-624)Gag>Aag p.E208K NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 208 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GCTGCTACCTCTGCCCCCAGC 0.537000 18 24 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069342 57069342 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57069342G>A ENST00000532437.1 - 8 5221 c.4910C>T c.(4909-4911)tCg>tTg p.S1637L TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1637L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1637 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GGTGCCCAACGACATCCGTGT 0.582000 4 56 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130145727 130145727 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:130145727C>G ENST00000373387.4 + 23 2524 c.2172C>G c.(2170-2172)atC>atG p.I724M GARNL3_ENST00000314904.5_Missense_Mutation_p.I724M|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.I702M NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 724 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 ACAGTTGCATCTATAAAAAGG 0.383000 21 16 0 0 1 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154091 145154091 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:145154091G>A ENST00000398712.2 - 7 1376 c.940C>T c.(940-942)Cag>Tag p.Q314* NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 314 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGGGGTGCTGAGGGCTAGGT 0.672000 13 18 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85977209 85977209 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:85977209A>T ENST00000263360.6 + 8 1497 c.811A>T c.(811-813)Atg>Ttg p.M271L EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Missense_Mutation_p.M271L|EED_ENST00000327320.4_Missense_Mutation_p.M271L NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 271 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) AAAGAGAATGATGAATGCAAT 0.303000 13 87 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106712230 106712230 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:106712230A>G ENST00000546625.1 + 4 561 c.402A>G c.(400-402)gaA>gaG p.E134E TCP11L2_ENST00000299045.3_Silent_p.E134E|TCP11L2_ENST00000547153.1_Silent_p.E134E Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 134 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AACTGTTTGAAGAAATCAGAG 0.473000 15 46 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14589126 14589126 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:14589126G>A ENST00000544627.1 + 4 2076 c.1756G>A c.(1756-1758)Gag>Aag p.E586K ATF7IP_ENST00000536444.1_Missense_Mutation_p.E577K|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.E578K|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E578K|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E577K Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 578 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 AGAAGAATATGAGGCAGAATT 0.323000 31 51 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94989396 94989396 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:94989396G>A ENST00000265627.5 - 9 964 c.954C>T c.(952-954)acC>acT p.T318T PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR|PON3_ENST00000427422.1_3'UTR NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TGGCATACACGGTGCTCACCC 0.443000 30 46 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910468 52910468 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:52910468G>A ENST00000252242.4 - 7 1782 c.1392C>T c.(1390-1392)gaC>gaT p.D464D NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 464 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CGATCTCCACGTCCAGGGCCA 0.602000 30 105 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395392 43395392 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:43395392C>T ENST00000426263.3 - 6 917 c.739G>A c.(739-741)Gag>Aag p.E247K SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 247 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGCCGACTCTCTTCCTTCATC 0.627000 60 124 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56477672 56477672 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:56477672C>T ENST00000267101.3 + 2 660 c.220C>T c.(220-222)Ctc>Ttc p.L74F ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.L74F|ERBB3_ENST00000415288.2_Missense_Mutation_p.L15F NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 74 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAATGCCGACCTCTCCTTCCT 0.537000 27 71 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500195 71500195 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:71500195G>A ENST00000396073.3 + 6 662 c.381G>A c.(379-381)caG>caA p.Q127Q NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 127 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AACCCAACCAGACTCAGTCAA 0.522000 11 23 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256681 140256681 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140256681G>T ENST00000398631.2 + 1 1624 c.1624G>T c.(1624-1626)Gtg>Ttg p.V542L PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACGCCGGCGTGCCGCCTCT 0.701000 43 79 2.24893e-16 2.51735e-16 1 1 0 ALAS2 212 broad.mit.edu 37 X 55050275 55050275 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:55050275G>A ENST00000330807.5 - 4 467 c.330C>T c.(328-330)gtC>gtT p.V110V ALAS2_ENST00000396198.3_Intron|ALAS2_ENST00000335854.4_Intron NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 110 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TCCTTAGGCTGACTGAGACCA 0.507000 3 6 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140255469 140255469 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:140255469C>G ENST00000275884.6 - 11 2421 c.2004G>C c.(2002-2004)gtG>gtC p.V668V DENND2A_ENST00000496613.1_Silent_p.V668V|DENND2A_ENST00000537639.1_Silent_p.V668V|DENND2A_ENST00000492720.1_Silent_p.V668V Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 668 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CCAGGCGGCTCACAATGCAGT 0.522000 20 72 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37195984 37195984 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:37195984C>T ENST00000274258.7 - 21 4017 c.430G>A c.(430-432)Gat>Aat p.D144N C5orf42_ENST00000508244.1_Missense_Mutation_p.D1263N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D1263N E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1263 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAAACTTCATCAAGCTTGTGG 0.378000 10 70 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882503 110882503 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:110882503C>G ENST00000369784.3 + 1 1376 c.476C>G c.(475-477)tCa>tGa p.S159* RBM15_ENST00000487146.2_Nonsense_Mutation_p.S159*|RBM15_ENST00000602849.1_Nonsense_Mutation_p.S159* NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 159 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCGCCTCCTCAGCTCCCGGC 0.642000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 32 0 0 1 0 0 ITM2C 81618 broad.mit.edu 37 2 231738161 231738161 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:231738161G>C ENST00000326427.6 + 2 276 c.150G>C c.(148-150)aaG>aaC p.K50N ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000326407.6_Missense_Mutation_p.K50N|ITM2C_ENST00000335005.6_Intron NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 50 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) ATCGATCCAAGAGGGGGGGCT 0.612000 6 27 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101347251 101347251 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:101347251C>T ENST00000344327.3 - 6 1949 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.E393K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E454K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 509 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) TCTTTACATTCAGCCCATATC 0.378000 25 27 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197160945 197160945 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:197160945G>C ENST00000367405.4 - 2 1273 c.1205C>G c.(1204-1206)tCt>tGt p.S402C ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGTTAGGTTAGACTTTGTTGA 0.383000 10 28 0 0 1 0 0 DDA1 79016 broad.mit.edu 37 19 17426805 17426805 + Splice_Site SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:17426805G>T ENST00000359866.4 + 4 322 c.e4+1 NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 GGACAAAAAGGTGAGGCCCAC 0.552000 34 175 3.90053e-15 4.32423e-15 1 1 0 NME8 51314 broad.mit.edu 37 7 37934072 37934072 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:37934072G>C ENST00000199447.4 + 16 1776 c.1404G>C c.(1402-1404)caG>caC p.Q468H NME8_ENST00000440017.1_Missense_Mutation_p.Q468H|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 468 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TCTTAGAGCAGATCCTGAAGA 0.328000 13 40 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176863486 176863486 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:176863486C>T ENST00000355472.5 + 13 1527 c.1359C>T c.(1357-1359)ttC>ttT p.F453F GRK6_ENST00000507633.1_Silent_p.F453F|GRK6_ENST00000393576.3_Silent_p.F419F|GRK6_ENST00000528793.1_Silent_p.F453F|GRK6_ENST00000355958.5_Silent_p.F453F NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 453 AGC-kinase C-terminal. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTGAACTTCAAGCGGCTGG 0.672000 20 32 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12231097 12231097 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:12231097G>C ENST00000256194.4 + 6 931 c.643G>C c.(643-645)Gag>Cag p.E215Q MICAL2_ENST00000342902.5_Missense_Mutation_p.E215Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.E215Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.E215Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.E215Q NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 215 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GTCGGAGTTTGAGTTTGACGT 0.532000 29 33 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238303321 238303321 + Silent SNP A A C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:238303321A>C ENST00000295550.4 - 3 1070 c.618T>G c.(616-618)ctT>ctG p.L206L COL6A3_ENST00000347401.3_Silent_p.L206L|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Silent_p.L206L|COL6A3_ENST00000472056.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 206 Nonhelical region.|VWFA 1. 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) CTATGTCATGAAGTGAGGTAA 0.433000 11 37 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97862208 97862208 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:97862208G>A ENST00000447648.2 - 12 2048 c.1749C>T c.(1747-1749)ttC>ttT p.F583F TECPR1_ENST00000379795.3_Silent_p.F584F|TECPR1_ENST00000542604.1_Silent_p.F513F Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 583 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGAGCTGCTGGAAGATCTGCT 0.632000 5 21 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440753 124440753 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:124440753C>T ENST00000284287.3 + 1 861 c.789C>T c.(787-789)gcC>gcT p.A263A NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ACCTTGCAGCCGTGGGAATGT 0.507000 28 31 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500192 71500192 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:71500192C>A ENST00000396073.3 + 6 659 c.378C>A c.(376-378)aaC>aaA p.N126K NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 126 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGAAACCCAACCAGACTCAGT 0.522000 11 24 3.8784e-16 4.32735e-16 1 1 0 SLC6A15 55117 broad.mit.edu 37 12 85266933 85266933 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:85266933C>A ENST00000266682.5 - 7 1583 c.1042G>T c.(1042-1044)Gca>Tca p.A348S SLC6A15_ENST00000552192.1_Missense_Mutation_p.A241S|SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000309283.7_Missense_Mutation_p.A56S NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 348 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ACCAATGTTGCCAGGACAGAA 0.393000 8 56 0.00307968 0.00313387 1 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77516012 77516012 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:77516012G>C ENST00000477717.1 + 4 976 c.741G>C c.(739-741)agG>agC p.R247S NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 247 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 TCTGTGACAGGATCAATGTTT 0.433000 40 82 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957784 12957784 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:12957784A>T ENST00000276297.4 - 9 2471 c.2062T>A c.(2062-2064)Tca>Aca p.S688T DLC1_ENST00000358919.2_Missense_Mutation_p.S251T|DLC1_ENST00000520226.1_Missense_Mutation_p.S177T|DLC1_ENST00000512044.2_Missense_Mutation_p.S285T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 688 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCCAGCTTTGAGGGCGCTTTG 0.562000 19 28 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121744054 121744054 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:121744054G>A ENST00000452319.1 + 13 2217 c.2157G>A c.(2155-2157)ctG>ctA p.L719L GLI2_ENST00000361492.4_Silent_p.L719L|GLI2_ENST00000314490.11_Silent_p.L391L P10070 GLI2_HUMAN GLI family zinc finger 2 719 QL -> HV (in Ref. 4; BAA03568/BAA03569). axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCTCCAGCTGCGCAAACACA 0.657000 6 21 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98340656 98340656 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:98340656G>C ENST00000264972.5 + 3 372 c.157G>C c.(157-159)Gat>Cat p.D53H NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 53 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GCTCGTGCACGATGTGCGCTT 0.672000 13 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090928 9090928 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:9090928G>A ENST00000397910.4 - 1 1090 c.887C>T c.(886-888)tCa>tTa p.S296L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 296 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGGTCTCTGATATTTTATT 0.517000 43 46 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70811992 70811992 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:70811992C>G ENST00000373695.1 + 2 617 c.80C>G c.(79-81)tCa>tGa p.S27* ACRC_ENST00000373696.3_Nonsense_Mutation_p.S27* Q96QF7 ACRC_HUMAN acidic repeat containing 27 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AATGTTCAGTCAAGCAGTGAT 0.383000 15 16 0 0 1 0 0 PRG3 10394 broad.mit.edu 37 11 57147185 57147185 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57147185T>A ENST00000287143.2 - 3 266 c.157A>T c.(157-159)Acg>Tcg p.T53S NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 53 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 ACCTCCTCCGTCAGAGCCAAG 0.562000 26 82 0 0 1 0 0 MGMT 4255 broad.mit.edu 37 10 131565235 131565235 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:131565235G>T ENST00000306010.7 + 5 723 c.691G>T c.(691-693)Ggc>Tgc p.G231C NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 231 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) AGCTACCTCGGGCTCCCCGCC 0.637000 Direct reversal of damage 8 17 5.18039e-06 5.39819e-06 1 1 0 LRP12 29967 broad.mit.edu 37 8 105511547 105511547 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:105511547G>A ENST00000276654.5 - 4 581 c.473C>T c.(472-474)tCa>tTa p.S158L LRP12_ENST00000424843.2_Missense_Mutation_p.S139L NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 158 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAACACACCTGAAAAATATGC 0.353000 8 123 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99294911 99294911 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:99294911C>T ENST00000264968.3 - 2 481 c.118G>A c.(118-120)Gaa>Aaa p.E40K MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40K|MGAT4A_ENST00000393487.1_Missense_Mutation_p.E40K Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 GCAAGGAATTCTCGTTGATAA 0.338000 17 85 0 0 1 0 0 FAM101A 144347 broad.mit.edu 37 12 124798930 124798930 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:124798930C>G ENST00000324038.3 + 3 510 c.267C>G c.(265-267)atC>atG p.I89M FAM101A_ENST00000338359.4_Missense_Mutation_p.I89M|FAM101A_ENST00000389727.3_Missense_Mutation_p.I170M|FAM101A_ENST00000546355.1_Missense_Mutation_p.I89M NM_181709.4 NP_859060.3 Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 170 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CCACCATCATCTTCCCCAAGC 0.687000 28 40 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762710 130762710 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:130762710G>T ENST00000392429.1 + 2 3521 c.1143G>T c.(1141-1143)caG>caT p.Q381H TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q381H|TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q381H NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 381 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCAGAAGACAGTTTGGGTCCA 0.522000 19 35 2.35188e-11 2.5826e-11 1 1 0 LPPR1 54886 broad.mit.edu 37 9 104048468 104048468 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:104048468G>C ENST00000374874.3 + 4 774 c.335G>C c.(334-336)gGa>gCa p.G112A LPPR1_ENST00000395056.2_Missense_Mutation_p.G112A NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 112 integral to membrane catalytic activity ATTCTGACCGGAGAATGCTGT 0.373000 15 53 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287675 16287675 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:16287675A>G ENST00000343518.6 - 1 262 c.211T>C c.(211-213)Tgg>Cgg p.W71R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 71 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CCCCTGCACCAGGGGAAGCAG 0.582000 53 140 0 0 1 0 0 RELL1 768211 broad.mit.edu 37 4 37687844 37687844 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:37687844C>T ENST00000454158.2 - 1 154 c.66G>A c.(64-66)gtG>gtA p.V22V RELL1_ENST00000314117.4_Silent_p.V22V NM_001085400.1 NP_001078869.1 Q8IUW5 RELL1_HUMAN RELT-like 1 22 cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 GCGGCGAACTCACGGCGCCTC 0.761000 3 8 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6156774 6156774 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:6156774A>G ENST00000164247.1 + 14 1447 c.883A>G c.(883-885)Atc>Gtc p.I295V KCNAB2_ENST00000458166.2_Missense_Mutation_p.I228V|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.I281V|KCNAB2_ENST00000602612.1_Missense_Mutation_p.I295V|KCNAB2_ENST00000378083.3_Missense_Mutation_p.I343V|KCNAB2_ENST00000378092.1_Missense_Mutation_p.I281V|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000341524.1_Missense_Mutation_p.I295V|KCNAB2_ENST00000378097.1_Missense_Mutation_p.I295V NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 295 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) GCTGCAGGCCATCGCCGAGCG 0.692000 5 7 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133698434 133698434 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:133698434T>A ENST00000310926.4 - 2 398 c.125A>T c.(124-126)cAg>cTg p.Q42L SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.Q42L NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 42 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TTGGCAGAGCTGCAGGAGGCC 0.587000 27 74 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811248 45811248 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:45811248G>A ENST00000397928.1 + 11 1979 c.1534G>A c.(1534-1536)Gag>Aag p.E512K TRPM2_ENST00000300481.9_Missense_Mutation_p.E512K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E512K|TRPM2_ENST00000300482.5_Missense_Mutation_p.E512K|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 512 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCAGCTGAAGGAGTTTGTCAC 0.567000 33 60 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31010392 31010392 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:31010392C>G ENST00000215838.3 + 4 978 c.484C>G c.(484-486)Ctg>Gtg p.L162V TCN2_ENST00000407817.3_Missense_Mutation_p.L135V|TCN2_ENST00000405742.3_Missense_Mutation_p.L158V P20062 TCO2_HUMAN transcobalamin II 162 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTGGGCATTCTGGCCCTGTG 0.577000 29 25 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21211121 21211121 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:21211121C>T ENST00000574002.1 - 16 2255 c.1773G>A c.(1771-1773)caG>caA p.Q591Q AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.Q582Q|ZP2_ENST00000219593.4_Silent_p.Q591Q Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 591 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TGTCAAACCTCTGATAGTGAT 0.502000 22 39 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879903 1879903 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:1879903G>A ENST00000505790.1 - 5 907 c.451C>T c.(451-453)Cgc>Tgc p.R151C IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 151 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) GTGGTCTCGCGCGTGGCGTTC 0.637000 21 38 0 0 1 0 0 GPR150 285601 broad.mit.edu 37 5 94956089 94956089 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:94956089C>G ENST00000380007.2 + 1 308 c.110C>G c.(109-111)tCt>tGt p.S37C NM_199243.1 NP_954713.1 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 37 integral to membrane|plasma membrane G-protein coupled receptor activity lung(2) 2 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) GCCCCTGCCTCTGGGCCGCCC 0.687000 7 5 0 0 1 0 0 VKORC1 79001 broad.mit.edu 37 16 31105701 31105701 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:31105701C>G ENST00000394971.3 - 1 169 c.122G>C c.(121-123)cGa>cCa p.R41P VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) TCCCTTGCCTCGCACTCTTAT 0.612000 26 47 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124352470 124352470 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:124352470G>T ENST00000409039.3 + 42 6994 c.6969G>T c.(6967-6969)atG>atT p.M2323I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2323 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAGCCAAGATGTTGGATGCGT 0.512000 11 14 0.00010058 0.000103258 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73738530 73738530 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:73738530C>G ENST00000200181.3 + 24 2929 c.2742C>G c.(2740-2742)ctC>ctG p.L914L ITGB4_ENST00000450894.3_Silent_p.L914L|ITGB4_ENST00000449880.2_Silent_p.L914L|ITGB4_ENST00000579662.1_Silent_p.L914L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.L914L NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 914 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) TCCACGACCTCAAGGTGGCCC 0.657000 8 14 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170858210 170858210 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:170858210C>T ENST00000436636.2 - 13 1654 c.1310G>A c.(1309-1311)aGg>aAg p.R437K TNIK_ENST00000460047.1_Missense_Mutation_p.R437K|TNIK_ENST00000488470.1_Missense_Mutation_p.R437K|TNIK_ENST00000284483.8_Missense_Mutation_p.R437K|TNIK_ENST00000470834.1_Missense_Mutation_p.R437K|TNIK_ENST00000357327.5_Missense_Mutation_p.R437K|TNIK_ENST00000538048.1_Missense_Mutation_p.R437K|TNIK_ENST00000369326.5_Missense_Mutation_p.R437K|TNIK_ENST00000341852.6_Missense_Mutation_p.R437K|TNIK_ENST00000475336.1_Missense_Mutation_p.R437K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 437 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CGCACGCCTCCTCTCCTCCTC 0.662000 52 108 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152487762 152487762 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:152487762C>T ENST00000397345.3 - 66 9715 c.9513G>A c.(9511-9513)ctG>ctA p.L3171L NEB_ENST00000604864.1_Silent_p.L3171L|NEB_ENST00000409198.1_Intron|NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Silent_p.L3171L|NEB_ENST00000427231.2_Silent_p.L3171L NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 3171 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTTATCACTCAGTATTTCGG 0.483000 55 48 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55479634 55479634 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:55479634G>C ENST00000394600.3 - 9 1556 c.820C>G c.(820-822)Cag>Gag p.Q274E MTIF2_ENST00000403721.1_Missense_Mutation_p.Q274E|MTIF2_ENST00000263629.4_Missense_Mutation_p.Q274E NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 274 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TTGGCATGCTGAATAGATTCT 0.423000 28 74 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191516 66191516 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:66191516T>C ENST00000311034.2 + 7 1331 c.1155T>C c.(1153-1155)tcT>tcC p.S385S NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 385 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GTGTTGTCTCTGCATCAGAAG 0.562000 31 193 0 0 1 0 0 IQCF2 389123 broad.mit.edu 37 3 51895685 51895685 + Translation_Start_Site SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:51895685G>C ENST00000333127.3 + 1 32 c.3G>C c.(1-3)atG>atC p.M1I IQCF2_ENST00000429548.1_3'UTR NM_203424.1 NP_982248.1 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 1 endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GACAGGCCATGAGGGTTCGAT 0.483000 18 26 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113554886 113554886 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:113554886C>T ENST00000546530.1 - 9 1008 c.723G>A c.(721-723)gaG>gaA p.E241E RASAL1_ENST00000446861.3_Silent_p.E241E|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.E241E|RASAL1_ENST00000261729.5_Silent_p.E241E NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 241 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 ACCCAGAATCCTCCTCGGCTC 0.607000 6 24 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48701486 48701486 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:48701486C>T ENST00000236495.5 + 11 1352 c.1302C>T c.(1300-1302)ttC>ttT p.F434F SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.F430F|SLC5A9_ENST00000438567.2_Silent_p.F409F NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 409 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GCACCCTGTTCACCATTGATG 0.612000 30 48 0 0 1 0 0 PIGK 10026 broad.mit.edu 37 1 77629564 77629564 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:77629564G>A ENST00000370812.3 - 6 574 c.551C>T c.(550-552)gCg>gTg p.A184V PIGK_ENST00000359130.1_Missense_Mutation_p.A184V|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.A90V|PIGK_ENST00000370813.5_Missense_Mutation_p.A108V NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 184 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 AAAAGCATCCGCGAGTTCTAT 0.308000 15 40 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921968 24921968 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:24921968C>G ENST00000329468.2 + 1 1428 c.954C>G c.(952-954)ccC>ccG p.P318P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGCTCCTCCCAGAGCTGCCC 0.587000 6 50 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61028376 61028376 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:61028376G>A ENST00000373867.3 - 9 1095 c.630C>T c.(628-630)atC>atT p.I210I FAM13C_ENST00000435852.2_Silent_p.I293I|FAM13C_ENST00000373868.2_Silent_p.I293I|FAM13C_ENST00000277705.6_Silent_p.I314I|FAM13C_ENST00000419214.2_Silent_p.I293I|FAM13C_ENST00000422313.2_Silent_p.I293I|FAM13C_ENST00000468840.2_Silent_p.I210I|FAM13C_ENST00000442566.3_Silent_p.I314I NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 293 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGAGGCTCTGGATGTGCTTGG 0.498000 11 24 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58491154 58491154 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:58491154G>A ENST00000341164.4 - 7 1514 c.894C>T c.(892-894)ttC>ttT p.F298F ZNF606_ENST00000536132.1_Silent_p.F208F NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTATATGATTGAAAGATTTAA 0.318000 21 49 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118352808 118352808 + Splice_Site SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:118352808G>A ENST00000534358.1 + 7 4035 c.e7+1 KMT2A_ENST00000389506.5_Splice_Site|KMT2A_ENST00000354520.4_Splice_Site|KMT2A_ENST00000420751.2_Splice_Site NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCAGAATCAGGTGAGTGAGGA 0.463000 10 13 0 0 1 0 0 ZNF7 7553 broad.mit.edu 37 8 146068516 146068516 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:146068516C>G ENST00000528372.1 + 5 2264 c.2024C>G c.(2023-2025)tCa>tGa p.S675* ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S579*|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S686*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S675*|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron P17097 ZNF7_HUMAN zinc finger protein 7 675 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) AATCGTAGCTCAAGGCTTACC 0.358000 62 83 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851705 14851705 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:14851705A>T ENST00000358984.4 + 36 3585 c.3405A>T c.(3403-3405)aaA>aaT p.K1135N NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1220 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGAAACAGAAAACAGTAACAA 0.358000 19 22 0 0 1 0 0 MMACHC 25974 broad.mit.edu 37 1 45966020 45966020 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:45966020G>T ENST00000401061.4 + 1 296 c.16G>T c.(16-18)Gca>Tca p.A6S NM_015506.2 NP_056321.2 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 6 cobalamin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCGAAAGTCGCAGAGCTGAA 0.512000 17 131 3.52763e-06 3.69815e-06 1 1 0 CYP2B7P 1556 broad.mit.edu 37 19 41447325 41447325 + RNA SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:41447325A>G ENST00000599198.1 + 0 824 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GAAACCCTGGACCCCAGCGCC 0.537000 19 142 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27787986 27787986 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:27787986T>A ENST00000318304.8 + 4 491 c.208T>A c.(208-210)Ttg>Atg p.L70M PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L70M|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L70M|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.L70M|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.L70M NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 70 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GAAAGAAGGCTTGAGATGCCA 0.458000 13 64 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P NM_001282524.1 NP_001269453.1 nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 6 49 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278140 36278140 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:36278140G>A ENST00000007510.4 + 21 2817 c.2673G>A c.(2671-2673)ccG>ccA p.P891P ARHGAP33_ENST00000378944.5_Silent_p.P755P|ARHGAP33_ENST00000314737.5_Silent_p.P730P O14559 RHG33_HUMAN Rho GTPase activating protein 33 891 Poly-Pro. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCCCACCCCCGCCCCCTAAGA 0.657000 41 17 0 0 1 0 0 LOC441666 441666 broad.mit.edu 37 10 42832385 42832385 + RNA SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:42832385C>G ENST00000609841.1 - 0 1518 NR_024380.1 TTGCCACATTCTTCACATTTG 0.378000 4 7 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039032 143039032 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:143039032G>T ENST00000343257.2 + 15 1680 c.1593G>T c.(1591-1593)gcG>gcT p.A531A NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 531 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GAGCAGCAGCGCTGACTGGTG 0.507000 10 35 0.0581538 0.0583218 1 1 0 ACACB 32 broad.mit.edu 37 12 109654448 109654448 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:109654448A>G ENST00000338432.7 + 23 3495 c.3376A>G c.(3376-3378)Atg>Gtg p.M1126V ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.M1126V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1126 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCGCGGCTATATGAAAACAGT 0.473000 10 32 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39109271 39109271 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:39109271T>C ENST00000297668.6 - 15 2324 c.2251A>G c.(2251-2253)Ata>Gta p.I751V CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I750V|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I663V NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 751 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAAGGACTATTGTGTCACTA 0.433000 11 8 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3263030 3263030 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:3263030G>A ENST00000382004.3 - 14 1821 c.1510C>T c.(1510-1512)Cac>Tac p.H504Y RFX3_ENST00000358730.2_Missense_Mutation_p.H504Y|RFX3_ENST00000302303.1_Missense_Mutation_p.H504Y NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 504 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TGGGCCAGGTGATTAAGCGAC 0.493000 42 38 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36143342 36143342 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:36143342C>G ENST00000296603.4 - 2 572 c.110G>C c.(109-111)gGa>gCa p.G37A NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 37 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCAGTGTTCCAATAATCAC 0.363000 16 44 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35547851 35547851 + Silent SNP T T C rs140804613 byFrequency TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:35547851T>C ENST00000262878.4 - 7 967 c.768A>G c.(766-768)caA>caG p.Q256Q SAMHD1_ENST00000373694.5_Silent_p.Q41Q NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 256 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TGAGACCATATTGTTCCATGA 0.358000 13 41 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) GCCCATGCAGGAACTGTTACA 0.572000 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) 13 21 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41421762 41421762 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:41421762G>T ENST00000551295.2 + 22 2931 c.2814G>T c.(2812-2814)acG>acT p.T938T CNTN1_ENST00000347616.1_Silent_p.T938T|CNTN1_ENST00000348761.2_Silent_p.T927T NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 938 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTACAGTGACGGGATATAAGG 0.378000 16 37 1.5739e-10 1.71743e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179448568 179448568 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:179448568G>C ENST00000589042.1 - 312 65565 c.65341C>G c.(65341-65343)Cca>Gca p.P21781A TTN_ENST00000342175.6_Missense_Mutation_p.P12908A|TTN_ENST00000591111.1_Missense_Mutation_p.P20140A|TTN_ENST00000342992.6_Missense_Mutation_p.P19213A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12716A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12841A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20140 Ig-like 114. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATGCTTTGGACGAGCCCAG 0.428000 6 10 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 37098579 37098579 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:37098579C>T ENST00000300105.6 - 1 1024 c.43G>A c.(43-45)Gtt>Att p.V15I NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 15 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 AAAGCACCAACGGTGGTTAAA 0.478000 57 60 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116346235 116346235 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:116346235C>T ENST00000374140.2 + 21 2752 c.2543C>T c.(2542-2544)gCg>gTg p.A848V RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.A169V|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.A848V|RGS3_ENST00000374134.3_Missense_Mutation_p.A169V|RGS3_ENST00000343817.5_Missense_Mutation_p.A567V NM_001282923.1|NM_144488.4 NP_001269852.1|NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 848 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GACCCACCTGCGGCCCCCAGG 0.642000 41 49 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40851713 40851713 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:40851713G>C ENST00000255224.3 - 3 1302 c.934C>G c.(934-936)Cga>Gga p.R312G SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R294G NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 312 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGCAGATGTCGAGCTTTTAAG 0.413000 12 65 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128979195 128979195 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:128979195C>T ENST00000314797.6 + 11 995 c.891C>T c.(889-891)agC>agT p.S297S NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 297 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TTTTCTGCAGCTCACCCAAGG 0.562000 21 101 0 0 1 0 0 ICT1 3396 broad.mit.edu 37 17 73016618 73016618 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:73016618C>G ENST00000301585.5 + 5 415 c.402C>G c.(400-402)atC>atG p.I134M NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 134 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GAGAGTTGATCCTCACCTCTG 0.468000 10 61 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957832 111957832 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:111957832C>A ENST00000369732.3 - 11 1346 c.1291G>T c.(1291-1293)Ggg>Tgg p.G431W NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 431 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TCAGTGACCCCAGCCTCTCCT 0.498000 15 77 2.23348e-06 2.35568e-06 1 1 0 FUT8 2530 broad.mit.edu 37 14 66136117 66136117 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:66136117A>G ENST00000360689.5 + 7 2481 c.754A>G c.(754-756)Act>Gct p.T252A FUT8_ENST00000557164.1_Missense_Mutation_p.T89A|FUT8_ENST00000394586.2_Missense_Mutation_p.T252A|FUT8_ENST00000358307.2_Missense_Mutation_p.T123A|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.T252A NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 252 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GCGCTATGCTACTGGTGGATG 0.502000 10 48 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42678832 42678832 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:42678832C>G ENST00000232978.8 + 13 1824 c.1636C>G c.(1636-1638)Cga>Gga p.R546G RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 546 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATCACATTCTCGAAGTAGATC 0.418000 39 117 0 0 1 0 0 GPR17 2840 broad.mit.edu 37 2 128408390 128408390 + Silent SNP G G A rs145234598 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:128408390G>A ENST00000544369.1 + 4 776 c.165G>A c.(163-165)acG>acA p.T55T LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000272644.3_Silent_p.T55T|GPR17_ENST00000393018.3_Silent_p.T55T|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 55 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gccaggagacgccactggaga 0.547000 OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 56 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354059 57354059 + Silent SNP G G A rs145346210 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:57354059G>A ENST00000314922.3 - 2 652 c.576C>T c.(574-576)ggC>ggT p.G192G PENK_ENST00000451791.2_Silent_p.G192G|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 192 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTCTCTTTAAGCCTCTCATGA 0.527000 60 78 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155485726 155485726 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:155485726C>T ENST00000461783.3 + 10 3479 c.2206C>T c.(2206-2208)Cat>Tat p.H736Y TIAM2_ENST00000456144.1_Missense_Mutation_p.H736Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H736Y|TIAM2_ENST00000456877.2_Missense_Mutation_p.H48Y|TIAM2_ENST00000528391.2_Missense_Mutation_p.H48Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H736Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H88Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H736Y Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 736 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TTCCTCTTTCCATGCTCTGGT 0.597000 23 117 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8385897 8385897 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:8385897G>T ENST00000471889.1 + 4 895 c.510G>T c.(508-510)tcG>tcT p.S170S SLC45A1_ENST00000289877.8_Silent_p.S170S|SLC45A1_ENST00000377479.2_Silent_p.S204S Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 170 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCCTCTCGCTCTTGCTGA 0.597000 14 60 7.93312e-07 8.44415e-07 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520951 33520951 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:33520951G>A ENST00000297307.5 - 1 461 c.376C>T c.(376-378)Ccc>Tcc p.P126S NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 126 DUF6 1. integral to membrane TTGCCAGCGGGCACCACCTGA 0.607000 93 156 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109152978 109152978 + Missense_Mutation SNP C C T rs142458296 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:109152978C>T ENST00000261483.4 + 13 3000 c.1948C>T c.(1948-1950)Ctt>Ttt p.L650F NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 650 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TTGCAGGTACCTTGTGGTCTA 0.363000 11 81 0 0 1 0 0 MAP1LC3A 84557 broad.mit.edu 37 20 33147573 33147573 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:33147573C>T ENST00000360668.3 + 4 998 c.237C>T c.(235-237)ttC>ttT p.F79F MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.F79F|MAP1LC3A_ENST00000374837.3_Silent_p.F83F Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha 79 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2) 5 CGCAGGCCTTCTTCCTGCTGG 0.632000 26 69 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10626656 10626656 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:10626656A>G ENST00000379597.3 + 3 1581 c.1025A>G c.(1024-1026)tAt>tGt p.Y342C GCNT2_ENST00000265012.4_Missense_Mutation_p.Y342C|GCNT2_ENST00000316170.3_Missense_Mutation_p.Y340C|GCNT2_ENST00000410107.1_Missense_Mutation_p.Y56C|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000495262.1_Missense_Mutation_p.Y342C Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 342 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCAGGCCACTATGTACATGGT 0.398000 17 167 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27876591 27876591 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:27876591G>C ENST00000337768.5 - 6 1575 c.1006C>G c.(1006-1008)Ctt>Gtt p.L336V SUPT7L_ENST00000406540.1_Missense_Mutation_p.L334V|SUPT7L_ENST00000405491.1_Missense_Mutation_p.L334V|SUPT7L_ENST00000464789.2_Missense_Mutation_p.L334V|SUPT7L_ENST00000404798.2_Missense_Mutation_p.L201V NM_001282729.1|NM_014860.1 NP_001269658.1|NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 336 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) AGATTCCAAAGAGGAGAAGCA 0.448000 39 93 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33018121 33018121 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:33018121C>G ENST00000357505.6 - 7 612 c.508G>C c.(508-510)Gat>Cat p.D170H N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.D170H|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D185H NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 179 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GGGTCCTGATCTCCCGGTGTA 0.383000 4 9 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216237060 216237060 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:216237060G>C ENST00000354785.4 - 40 6655 c.6286C>G c.(6286-6288)Ctt>Gtt p.L2096V FN1_ENST00000336916.4_Missense_Mutation_p.L2005V|FN1_ENST00000359671.1_Missense_Mutation_p.L2005V|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.L2096V|FN1_ENST00000345488.5_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.L1915V|FN1_ENST00000432072.2_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Missense_Mutation_p.L1915V P02751 FINC_HUMAN fibronectin 1 2005 Connecting strand 3 (CS-3) (V region). acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTCCATGAAGATTGGGGTGT 0.502000 34 29 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321834 78321834 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78321834C>T ENST00000582970.1 + 29 9842 c.9699C>T c.(9697-9699)gtC>gtT p.V3233V RNF213_ENST00000336301.6_Silent_p.V1306V|RNF213_ENST00000508628.2_Silent_p.V3282V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCTGCAGGTCATAGAGAGGC 0.582000 21 66 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99294910 99294910 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:99294910T>A ENST00000264968.3 - 2 482 c.119A>T c.(118-120)gAa>gTa p.E40V MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40V|MGAT4A_ENST00000393487.1_Missense_Mutation_p.E40V Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AGCAAGGAATTCTCGTTGATA 0.338000 18 85 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75852128 75852128 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:75852128G>A ENST00000356136.3 + 15 2012 c.1771G>A c.(1771-1773)Ggg>Agg p.G591R UVRAG_ENST00000539288.1_Missense_Mutation_p.G219R|UVRAG_ENST00000528420.1_Missense_Mutation_p.G490R|UVRAG_ENST00000531818.1_Missense_Mutation_p.G219R|UVRAG_ENST00000532130.1_Missense_Mutation_p.G219R|UVRAG_ENST00000538870.1_Missense_Mutation_p.G147R|UVRAG_ENST00000533454.1_Missense_Mutation_p.G219R NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 591 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 AGCCCTCTCCGGGCACCGGGC 0.577000 9 28 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190264 66190264 + Nonsense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:66190264G>T ENST00000311034.2 + 4 726 c.550G>T c.(550-552)Gga>Tga p.G184* NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 184 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTACTGGGCAGGAAATCCCGT 0.622000 25 97 2.98393e-07 3.19575e-07 1 1 0 PCSK6 5046 broad.mit.edu 37 15 101938656 101938656 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:101938656C>A ENST00000348070.1 - 8 945 c.946G>T c.(946-948)Ggg>Tgg p.G316W PCSK6_ENST00000358417.3_Missense_Mutation_p.G316W|PCSK6_ENST00000398181.2_Missense_Mutation_p.G316W|PCSK6_ENST00000331826.7_Missense_Mutation_p.G151W|PCSK6_ENST00000344273.2_Missense_Mutation_p.G316W|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 317 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGGCCGGGCCCGTCCACCGTC 0.582000 15 111 6.94344e-10 7.5293e-10 1 1 0 SIVA1 10572 broad.mit.edu 37 14 105222038 105222038 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:105222038G>A ENST00000329967.6 + 2 292 c.190G>A c.(190-192)Gtc>Atc p.V64I SIVA1_ENST00000347067.5_Intron NM_006427.3 NP_006418.2 O15304 SIVA_HUMAN SIVA1, apoptosis-inducing factor 64 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) AGGCTGTGCCGTCGTTCACCT 0.627000 10 51 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10798322 10798322 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:10798322C>T ENST00000449870.1 + 18 2689 c.2372C>T c.(2371-2373)tCg>tTg p.S791L ILF3_ENST00000590261.1_Missense_Mutation_p.S787L|ILF3_ENST00000588657.1_Missense_Mutation_p.S791L|ILF3_ENST00000318511.3_Missense_Mutation_p.S787L|ILF3_ENST00000586544.1_3'UTR NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 787 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TACTCCTACTCGAACTCCTAC 0.597000 21 14 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118290 4118290 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:4118290T>C ENST00000324333.10 - 3 916 c.723A>G c.(721-723)caA>caG p.Q241Q GLIS3_ENST00000381971.3_Silent_p.Q396Q NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 241 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCTCCAGCTGTTGCATGCGCT 0.731000 3 1 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395395 43395395 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:43395395C>T ENST00000426263.3 - 6 914 c.736G>A c.(736-738)Gaa>Aaa p.E246K SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 246 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CGACTCTCTTCCTTCATCTCC 0.622000 61 122 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69005891 69005891 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:69005891C>T ENST00000288368.4 + 21 2579 c.2302C>T c.(2302-2304)Ctt>Ttt p.L768F PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 768 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.L768I(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCAAGAAGACCTTCAAAAATC 0.408000 18 141 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11850213 11850213 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:11850213C>T ENST00000396516.2 - 20 2639 c.2442G>A c.(2440-2442)gaG>gaA p.E814E ZC3H7A_ENST00000575984.1_Silent_p.E10E|ZC3H7A_ENST00000355758.4_Silent_p.E814E Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 814 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CGTAAAATTGCTCCATATCTT 0.338000 14 35 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101074973 101074973 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:101074973C>T ENST00000360863.6 - 9 1554 c.1360G>A c.(1360-1362)Gag>Aag p.E454K RGS22_ENST00000523287.1_Missense_Mutation_p.E273K|RGS22_ENST00000523437.1_Missense_Mutation_p.E442K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 454 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTCATCTTCTCAAGATGTCTG 0.313000 5 92 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44870231 44870231 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:44870231G>T ENST00000377967.4 + 5 451 c.410G>T c.(409-411)gGt>gTt p.G137V KDM6A_ENST00000536777.1_Missense_Mutation_p.G137V|KDM6A_ENST00000382899.4_Missense_Mutation_p.G137V|KDM6A_ENST00000543216.1_Missense_Mutation_p.G137V NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 137 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TATGGTCTTGGTTTGGTCTAC 0.299000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 6 6 5.18039e-06 5.39819e-06 1 1 0 BRD9 65980 broad.mit.edu 37 5 887497 887497 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:887497T>A ENST00000323510.4 - 3 347 c.348A>T c.(346-348)gcA>gcT p.A116A BRD9_ENST00000467963.1_Silent_p.A232A|BRD9_ENST00000435709.2_Silent_p.A116A|BRD9_ENST00000483173.1_Silent_p.A179A|BRD9_ENST00000388890.4_Silent_p.A116A Q9H8M2 BRD9_HUMAN bromodomain containing 9 232 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TCTTAAAGCCTGCGTGAAGGA 0.498000 23 130 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628906 84628906 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:84628906G>A ENST00000284136.6 - 17 2227 c.2184C>T c.(2182-2184)gaC>gaT p.D728D SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 728 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CGCAGTACTGGTCGAGGCTGA 0.502000 17 64 0 0 1 0 0 NTS 4922 broad.mit.edu 37 12 86272172 86272172 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:86272172G>T ENST00000256010.6 + 3 292 c.185G>T c.(184-186)tGc>tTc p.C62F NTS_ENST00000551529.1_Intron NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 62 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 CTAAATGTTTGCAGTCTTGTA 0.383000 21 107 1.50039e-11 1.65281e-11 1 1 0 DST 667 broad.mit.edu 37 6 56464869 56464869 + Nonsense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:56464869C>A ENST00000370754.5 - 45 11598 c.11599G>T c.(11599-11601)Gag>Tag p.E3867* DST_ENST00000312431.6_Nonsense_Mutation_p.E3687*|DST_ENST00000421834.2_Nonsense_Mutation_p.E1601*|DST_ENST00000370788.2_Nonsense_Mutation_p.E1601*|DST_ENST00000370769.4_Nonsense_Mutation_p.E3689*|DST_ENST00000446842.2_Nonsense_Mutation_p.E3363*|DST_ENST00000361203.3_Nonsense_Mutation_p.E3687*|DST_ENST00000244364.6_Nonsense_Mutation_p.E1275* Q03001 DYST_HUMAN dystonin 3687 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AATTCTACCTCTTGCTTGGAC 0.358000 9 65 2.17888e-05 2.24353e-05 1 1 0 C10orf76 79591 broad.mit.edu 37 10 103649229 103649229 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:103649229A>G ENST00000370033.4 - 24 1919 c.1800T>C c.(1798-1800)ttT>ttC p.F600F C10orf76_ENST00000495001.1_5'UTR NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 600 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTTTGGGGTTAAAGTGGTTGA 0.428000 51 180 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49695706 49695706 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:49695706C>T ENST00000303221.5 - 8 1168 c.953G>A c.(952-954)aGg>aAg p.R318K EMB_ENST00000514111.1_Missense_Mutation_p.R268K|EMB_ENST00000508934.1_Missense_Mutation_p.R264K NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 318 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) TTTTCTATGCCTGGGGACATT 0.269000 7 44 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85382285 85382285 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:85382285G>A ENST00000258888.5 + 4 1152 c.985G>A c.(985-987)Gag>Aag p.E329K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 329 Ig-like 1. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCAAAATATGAGATCACTCA 0.572000 12 10 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44528286 44528286 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:44528286C>T ENST00000410056.3 + 6 1156 c.1156C>T c.(1156-1158)Ctc>Ttc p.L386F SLC3A1_ENST00000409229.3_Intron|SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409741.1_Intron Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 0 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GGCATATGCTCTCATTTCTTC 0.502000 9 23 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68021779 68021779 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:68021779C>T ENST00000412757.2 - 11 1847 c.1182G>A c.(1180-1182)ctG>ctA p.L394L DPEP2_ENST00000572888.1_Silent_p.L394L|DPEP2_ENST00000393847.1_Silent_p.L394L Q9H4A9 DPEP2_HUMAN dipeptidase 2 394 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGAAGACCCGCAGCAGGTTTC 0.567000 30 186 0 0 1 0 0 ANXA8L1 728113 broad.mit.edu 37 10 47158846 47158846 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:47158846G>A ENST00000359178.4 - 12 1096 c.975C>T c.(973-975)agC>agT p.S325S ANXA8L1_ENST00000358140.4_Silent_p.S274S|ANXA8L1_ENST00000414655.2_Silent_p.S263S|ANXA8L1_ENST00000545298.1_3'UTR NM_001098845.1 NP_001092315 Q5T2P8 AXA81_HUMAN annexin A8-like 1 325 calcium ion binding|calcium-dependent phospholipid binding large_intestine(1)|lung(1) 2 CTCAGGGGTCGCTGCCCACCA 0.607000 3 8 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101074892 101074892 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:101074892C>G ENST00000360863.6 - 9 1635 c.1441G>C c.(1441-1443)Gat>Cat p.D481H RGS22_ENST00000523287.1_Missense_Mutation_p.D300H|RGS22_ENST00000523437.1_Missense_Mutation_p.D469H NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 481 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGTGATCCATCTAACAGTTTA 0.308000 5 115 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57908460 57908460 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:57908460G>T ENST00000366197.5 + 2 310 c.60G>T c.(58-60)gaG>gaT p.E20D ZNF548_ENST00000597400.1_Missense_Mutation_p.E32D|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.E32D|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.E32D NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTCCCAGGAGGAGTGGGGGC 0.488000 96 171 1.15966e-41 1.32369e-41 1 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42113042 42113042 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:42113042G>A ENST00000457542.2 + 23 2780 c.2494G>A c.(2494-2496)Gtg>Atg p.V832M MAPKBP1_ENST00000260357.7_Missense_Mutation_p.V671M|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.V838M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.V715M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.V832M NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 838 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACAGGAGTCCGTGGGGTTCCT 0.567000 6 13 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23854694 23854694 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:23854694T>A ENST00000269142.5 + 4 1663 c.665T>A c.(664-666)cTg>cAg p.L222Q TAF4B_ENST00000578121.1_Missense_Mutation_p.L222Q|TAF4B_ENST00000400466.2_Missense_Mutation_p.L222Q NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 222 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) GTAACTACCCTGAAGCCTTCA 0.428000 16 101 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206253 49206253 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:49206253C>A ENST00000425340.2 + 2 157 c.40C>A c.(40-42)Cac>Aac p.H14N FUT2_ENST00000391876.4_Missense_Mutation_p.H14N NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 14 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) TCCCATGGCCCACTTCATCCT 0.547000 61 184 1.1362e-29 1.29266e-29 1 1 0 CLDN8 9073 broad.mit.edu 37 21 31587705 31587705 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:31587705G>T ENST00000399899.1 - 1 686 c.539C>A c.(538-540)gCt>gAt p.A180D CLDN8_ENST00000286809.1_Missense_Mutation_p.A180D NM_199328.2 NP_955360.1 P56748 CLD8_HUMAN claudin 8 180 calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|endometrium(2)|large_intestine(6)|lung(6) 15 GCAGAACAGAGCTCCTCCAAC 0.453000 4 65 0.00909568 0.009175 1 1 0 KRBA1 84626 broad.mit.edu 37 7 149421876 149421876 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:149421876C>G ENST00000255992.10 + 9 1461 c.1062C>G c.(1060-1062)ctC>ctG p.L354L KRBA1_ENST00000319551.8_Silent_p.L354L|KRBA1_ENST00000485033.2_Silent_p.L354L|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 354 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCAGCCCCTCAGTCCCTCAG 0.642000 4 7 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220326632 220326632 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:220326632C>G ENST00000312358.7 + 7 2601 c.2469C>G c.(2467-2469)ccC>ccG p.P823P SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.P719P|SPEG_ENST00000396686.1_5'UTR|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000396695.2_Silent_p.P31P|SPEG_ENST00000396688.1_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 823 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCAGCAGCCCCATCACCTCCG 0.627000 36 46 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735793 55735793 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:55735793G>A ENST00000312345.2 - 1 197 c.147C>T c.(145-147)ccC>ccT p.P49P NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AAAAATACATGGGAGTCTGGA 0.333000 48 54 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161747 43161747 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:43161747C>T ENST00000352483.2 - 9 1814 c.1750G>A c.(1750-1752)Gag>Aag p.E584K RIPK4_ENST00000332512.3_Missense_Mutation_p.E536K|RIPK4_ENST00000544709.1_Missense_Mutation_p.E473K|RIPK4_ENST00000542057.1_Missense_Mutation_p.E473K Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 536 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTCCGGCCCTCAAAGTCCACC 0.647000 17 47 0 0 1 0 0 ZNF805 390980 broad.mit.edu 37 19 57764890 57764890 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:57764890G>A ENST00000535550.1 + 4 800 c.304G>A c.(304-306)Gag>Aag p.E102K ZNF805_ENST00000414468.2_Missense_Mutation_p.E235K|ZNF805_ENST00000354309.4_Missense_Mutation_p.E102K NM_001145078.1 NP_001138550.1 Q5CZA5 ZN805_HUMAN zinc finger protein 805 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1) 9 TGAATGCACAGAGTGTGGAAA 0.458000 3 18 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396083 154396083 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:154396083G>T ENST00000435029.4 + 1 2824 c.2664G>T c.(2662-2664)ctG>ctT p.L888L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 888 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAAACAGCCTGAGACAGAGCA 0.438000 20 34 4.35082e-09 4.68861e-09 1 1 0 PPP3R1 5534 broad.mit.edu 37 2 68408096 68408096 + Nonstop_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:68408096C>G ENST00000234310.3 - 6 915 c.512G>C c.(511-513)tGa>tCa p.*171S RP11-474G23.1_ENST00000406334.3_Intron|PPP3R1_ENST00000409752.1_Nonstop_Mutation_p.*190S|PPP3R1_ENST00000409377.1_Nonstop_Mutation_p.*161S NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha 0 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding large_intestine(1) 1 Pimecrolimus(DB00337) TGATAAGAGTCACACATCTAC 0.433000 5 23 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586060 20586060 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:20586060C>T ENST00000315543.4 + 1 495 c.495C>T c.(493-495)acC>acT p.T165T NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ACTACATGACCATCATGAACA 0.453000 11 95 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52861995 52861995 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:52861995C>T ENST00000371568.3 - 5 662 c.444G>A c.(442-444)ctG>ctA p.L148L ORC1_ENST00000371566.1_Silent_p.L148L NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 148 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTCATTTTTCAGATTCGTCG 0.418000 63 77 0 0 1 0 0 TMEM14C 51522 broad.mit.edu 37 6 10726149 10726149 + Missense_Mutation SNP C C T rs146638335 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:10726149C>T ENST00000541412.1 + 4 492 c.107C>T c.(106-108)cCg>cTg p.P36L TMEM14C_ENST00000229563.5_Missense_Mutation_p.P36L|TMEM14C_ENST00000467415.1_3'UTR NM_001165258.1 NP_001158730.1 Q9P0S9 TM14C_HUMAN transmembrane protein 14C 36 heme biosynthetic process integral to membrane|mitochondrial membrane large_intestine(2)|lung(3) 5 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) GGCAGCGTGCCGTCCCTGGCT 0.547000 11 178 0 0 1 0 0 DEDD 9191 broad.mit.edu 37 1 161094073 161094073 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:161094073G>A ENST00000392188.1 - 3 414 c.180C>T c.(178-180)ctC>ctT p.L60L DEDD_ENST00000458050.2_Silent_p.L60L|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000545495.1_Silent_p.L60L|DEDD_ENST00000368005.1_Silent_p.L60L|DEDD_ENST00000490843.2_Silent_p.L60L|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000368006.3_Silent_p.L60L O75618 DEDD_HUMAN death effector domain containing 60 DED. apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CATTTCGGATGAGTCCACGCT 0.527000 64 29 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80626769 80626769 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:80626769G>A ENST00000458043.2 + 8 688 c.682G>A c.(682-684)Ggg>Agg p.G228R OTOGL_ENST00000547103.1_Missense_Mutation_p.G228R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GGCTTGGGACGGGATATCTGG 0.398000 14 24 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129228 1129228 + Silent SNP C C T rs35742768 byFrequency TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:1129228C>T ENST00000293897.4 + 1 448 c.360C>T c.(358-360)ggC>ggT p.G120G SSTR5_ENST00000562758.1_Silent_p.G120G|SSTR5_ENST00000397547.2_Silent_p.G120G NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 120 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCTGGACGGCGTCAACCAGT 0.677000 4 38 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588458 20588458 + RNA SNP G G C rs2291971 by1000genomes TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:20588458G>C ENST00000428453.1 - 0 4292 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TGCTGGCCATGACTGCAGTGC 0.458000 4 17 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73066945 73066945 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:73066945G>A ENST00000263674.3 + 5 3960 c.3610G>A c.(3610-3612)Gac>Aac p.D1204N NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1204 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGCGCTGTCTGACCTCATGAT 0.567000 28 99 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75156998 75156998 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:75156998C>T ENST00000342232.4 - 4 1711 c.1671G>A c.(1669-1671)ctG>ctA p.L557L JPH1_ENST00000518195.1_5'UTR NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 557 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGGGGGCGTTCAGCTTCACGT 0.602000 18 97 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211939 72211939 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:72211939T>A ENST00000340726.3 - 8 1212 c.573A>T c.(571-573)acA>acT p.T191T EYA1_ENST00000388742.4_Silent_p.T191T|EYA1_ENST00000419131.1_Silent_p.T186T|EYA1_ENST00000388743.2_Silent_p.T190T|EYA1_ENST00000303824.7_Silent_p.T185T|EYA1_ENST00000388741.2_Silent_p.T157T|EYA1_ENST00000388740.3_Silent_p.T158T NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 191 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTCCTGATGATGTTGTAAAAC 0.318000 13 91 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244661 46244661 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:46244661C>G ENST00000334344.6 + 15 2927 c.2755C>G c.(2755-2757)Cag>Gag p.Q919E ARID2_ENST00000444670.1_Missense_Mutation_p.Q529E|ARID2_ENST00000422737.1_Missense_Mutation_p.Q770E|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 919 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCAACAACCACAGCAGCCAAC 0.473000 """N, S, F""" hepatocellular carcinoma 17 123 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109817341 109817341 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:109817341G>A ENST00000356711.2 + 33 5317 c.5191G>A c.(5191-5193)Gga>Aga p.G1731R MYO16_ENST00000357550.2_Missense_Mutation_p.G1731R|MYO16-AS1_ENST00000439299.1_RNA NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1731 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAATAACCATGGAATTCAGTT 0.338000 5 69 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173150860 173150860 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:173150860G>C ENST00000506823.1 + 3 849 c.192G>C c.(190-192)ttG>ttC p.L64F GALNTL6_ENST00000508122.1_Missense_Mutation_p.L47F NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 64 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CAGATGGTTTGAGAAGAAAGG 0.443000 7 23 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48342712 48342712 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:48342712G>A ENST00000221996.7 + 4 594 c.388G>A c.(388-390)Gat>Aat p.D130N CRX_ENST00000539067.1_Missense_Mutation_p.D130N|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 130 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) ACCCTCCACAGATGTGTGTCC 0.667000 37 81 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308312 20308312 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:20308312C>A ENST00000335117.8 + 4 850 c.793C>A c.(793-795)Ccc>Acc p.P265T CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 TGGAGAGAAACCCTACATTTG 0.368000 7 31 0.00198382 0.00202466 1 1 0 GALE 2582 broad.mit.edu 37 1 24124667 24124667 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:24124667C>T ENST00000374497.3 - 5 382 c.291G>A c.(289-291)tcG>tcA p.S97S NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 97 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GCTTCTGCACCGACTCGCCCA 0.562000 5 96 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6529488 6529488 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:6529488C>T ENST00000377748.1 - 19 2684 c.2187G>A c.(2185-2187)ctG>ctA p.L729L PLEKHG5_ENST00000377740.3_Silent_p.L729L|PLEKHG5_ENST00000400913.1_Silent_p.L652L|PLEKHG5_ENST00000340850.5_Silent_p.L652L|PLEKHG5_ENST00000400915.3_Silent_p.L708L|PLEKHG5_ENST00000377728.3_Silent_p.L652L|PLEKHG5_ENST00000544978.1_Silent_p.L652L|PLEKHG5_ENST00000377737.2_Silent_p.L652L|PLEKHG5_ENST00000535355.1_Silent_p.L721L|PLEKHG5_ENST00000377732.1_Silent_p.L689L|PLEKHG5_ENST00000537245.1_Silent_p.L731L|PLEKHG5_ENST00000377725.1_Silent_p.L652L NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 708 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GAAACTCATTCAGGTAGATAA 0.592000 39 140 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57221444 57221444 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:57221444T>C ENST00000205214.6 - 6 1187 c.1007A>G c.(1006-1008)aAt>aGt p.N336S AASDH_ENST00000502617.1_Missense_Mutation_p.N336S|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_Missense_Mutation_p.N183S|AASDH_ENST00000451613.1_Missense_Mutation_p.N336S|AASDH_ENST00000513376.1_Missense_Mutation_p.N236S NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 336 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTGTGTTTTATTGCCTTCTCC 0.403000 31 139 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161193191 161193191 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:161193191T>C ENST00000464492.1 - 2 138 c.100A>G c.(100-102)Atg>Gtg p.M34V APOA2_ENST00000470459.2_Start_Codon_SNP_p.M1V|APOA2_ENST00000463812.1_Intron|APOA2_ENST00000468465.1_5'UTR|APOA2_ENST00000491350.1_Start_Codon_SNP_p.M1V|APOA2_ENST00000367990.3_Start_Codon_SNP_p.M1V P02652 APOA2_HUMAN apolipoprotein A-II cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCAGCTTCATGTTGGTAACA 0.582000 8 40 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71500193 71500193 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:71500193C>A ENST00000396073.3 + 6 660 c.379C>A c.(379-381)Cag>Aag p.Q127K NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 127 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GAAACCCAACCAGACTCAGTC 0.522000 10 23 1.40151e-16 1.57386e-16 1 1 0 BICD2 23299 broad.mit.edu 37 9 95481333 95481333 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:95481333C>T ENST00000356884.6 - 5 1661 c.1594G>A c.(1594-1596)Gag>Aag p.E532K BICD2_ENST00000375512.3_Missense_Mutation_p.E532K NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 532 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GCCAGCTCCTCACTGAAGGTC 0.632000 28 28 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3160668 3160668 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:3160668delG ENST00000378398.3 + 3 487 c.405delG c.(403-405)gtgfs p.V135fs PRDM16_ENST00000270722.5_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.V135fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Frame_Shift_Del_p.V135fs Q9HAZ2 PRD16_HUMAN PR domain containing 16 135 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGACGGACGTGGAAGTGTCGC 0.557 T EVI1 """MDS, AML""" 23 67 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)cagdel p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 9 227 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142459777 142459778 + RNA INS - - A rs144781370 by1000genomes TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:142459777_142459778insA ENST00000430863.1 - 0 2629_2630 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCAGACAGGCCAGCAGTGTGGT 0.678 8 2 --- --- --- --- OR51I2 390064 broad.mit.edu 37 11 5475260 5475261 + Frame_Shift_Ins INS - - C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:5475260_5475261insC ENST00000341449.2 + 1 623_624 c.542_543insC c.(541-546)cacccafs p.HP181fs HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTGCCTGCACCCAGACATGA 0.460 34 41 --- --- --- --- PPP6R3 55291 broad.mit.edu 37 11 68331787 68331788 + Frame_Shift_Ins INS - - A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:68331787_68331788insA ENST00000393799.2 + 9 1129_1130 c.862_863insA c.(862-864)gagfs p.E288fs PPP6R3_ENST00000529710.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000524904.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000265636.5_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000265637.4_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000393801.3_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000524845.1_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000527403.2_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000393800.2_Frame_Shift_Ins_p.E288fs|PPP6R3_ENST00000534534.1_Intron Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 288 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGGCCATATAGAGATCTGCCCA 0.376 55 94 --- --- --- --- SIAH1 6477 broad.mit.edu 37 16 48399335 48399336 + Frame_Shift_Ins INS - - A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:48399335_48399336insA ENST00000356721.3 - 1 476_477 c.53_54insT c.(52-54)ttcfs p.F18fs SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron NM_001006610.1 NP_001006611.1 Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 0 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) GTAAACATGTGAACAAGACTCC 0.485 12 17 --- --- --- --- ZNF317 57693 broad.mit.edu 37 19 9272093 9272093 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:9272093delG ENST00000247956.6 + 7 2077 c.1772delG c.(1771-1773)tggfs p.W591fs ZNF317_ENST00000360385.3_Frame_Shift_Del_p.W559fs NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TCATCCGTGTGGAAAAGGCTC 0.557 17 28 --- --- --- --- SPATA2 9825 broad.mit.edu 37 20 48522186 48522187 + Frame_Shift_Del DEL GG GG - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:48522186_48522187delGG ENST00000422556.1 - 3 1881_1882 c.1532_1533delCC c.(1531-1533)tccfs p.S511fs SPATA2_ENST00000543716.1_Frame_Shift_Del_p.S374fs|SPATA2_ENST00000289431.5_Frame_Shift_Del_p.S511fs NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 511 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGAGCTGGGTGGACTTGTAGTT 0.540 10 100 --- --- --- --- EIF4ENIF1 56478 broad.mit.edu 37 22 31884623 31884623 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:31884623delG ENST00000397525.1 - 2 305 c.82delC c.(82-84)catfs p.H28fs EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.H28fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.H28fs NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 28 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTATAGCGATGGGGGCATTTG 0.413 33 21 --- --- --- --- MAP3K15 389840 broad.mit.edu 37 X 19390910 19390910 + Frame_Shift_Del DEL C C - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:19390910delC ENST00000338883.4 - 22 2968 c.2969delG c.(2968-2970)ggcfs p.G990fs MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G822fs|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G425fs NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 990 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CGAGGCCAAGCCCCGGTCTTC 0.612 20 37 --- --- --- ---