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 TRIM16 10626 broad.mit.edu 37 17 15532066 15532066 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:15532066G>A ENST00000578237.1 - 11 2413 c.1558C>T c.(1558-1560)Cac>Tac p.H520Y TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) GCAAACTTGTGAACCAGAGTC 0.507000 24 37 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 13 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29237325 29237325 + Silent SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:29237325T>C ENST00000379558.4 + 8 1293 c.942T>C c.(940-942)ccT>ccC p.P314P FAM179A_ENST00000403861.2_Silent_p.P314P NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 314 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGCCCTGCCTTTTTCTCAGT 0.582000 2 11 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60679418 60679418 + Missense_Mutation SNP T T A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:60679418T>A ENST00000582809.1 + 20 1992 c.1289T>A c.(1288-1290)gTa>gAa p.V430E TLK2_ENST00000346027.5_Missense_Mutation_p.V579E|TLK2_ENST00000343388.7_Missense_Mutation_p.V547E|TLK2_ENST00000326270.9_Missense_Mutation_p.V601E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E Q86UE8 TLK2_HUMAN tousled-like kinase 2 601 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 ATTCTTTTAGTAAATGGTACA 0.343000 3 31 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2820915 2820915 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr8:2820915C>T ENST00000602557.1 - 61 9841 c.9286G>A c.(9286-9288)Gtg>Atg p.V3096M CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3096 Sushi 25. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACACAGCACGGCTATTTCC 0.498000 79 44 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2776682 2776682 + Silent SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr20:2776682G>A ENST00000380605.2 - 10 1432 c.1368C>T c.(1366-1368)atC>atT p.I456I NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 456 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GGTTGGGGACGATGTGGGGCA 0.572000 69 86 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 53 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191940981 191940981 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:191940981A>G ENST00000392320.2 - 4 658 c.344T>C c.(343-345)aTa>aCa p.I115T STAT4_ENST00000358470.4_Missense_Mutation_p.I115T NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 115 I -> V (in dbSNP:rs3024839). JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGCAGCCAATATTCTCCTCTC 0.343000 10 62 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119065088 119065088 + Silent SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr9:119065088T>C ENST00000328252.3 + 10 3375 c.3006T>C c.(3004-3006)ttT>ttC p.F1002F RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.F40F NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1002 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGAGGAGTTTGAACAAAAAA 0.438000 3 67 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40457949 40457949 + Missense_Mutation SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chrX:40457949T>C ENST00000378438.4 + 6 709 c.551T>C c.(550-552)cTt>cCt p.L184P ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 184 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 CTGCTCTTTCTTTCTGAACTG 0.363000 33 24 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113920464 113920464 + Missense_Mutation SNP C C A rs151269022 TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr10:113920464C>A ENST00000348367.4 - 16 1854 c.1657G>T c.(1657-1659)Gat>Tat p.D553Y GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 553 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) AAAAACTCATCGTTCCTGCTA 0.448000 7 48 0.00198382 0.00210528 1 1 0 ZZEF1 23140 broad.mit.edu 37 17 3917452 3917452 + Missense_Mutation SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:3917452T>C ENST00000381638.2 - 51 8469 c.8345A>G c.(8344-8346)gAc>gGc p.D2782G NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2782 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GTTGCTCATGTCGGAGGTGAA 0.572000 6 56 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373542 86373542 + Missense_Mutation SNP G G A rs145801611 byFrequency TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr12:86373542G>A ENST00000604798.1 - 8 2166 c.962C>T c.(961-963)aCg>aTg p.T321M MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 321 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.T321M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTTATTCTCCGTCCCTTTGTA 0.403000 16 36 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412939 63412939 + Silent SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chrX:63412939T>C ENST00000330258.3 - 2 500 c.228A>G c.(226-228)ggA>ggG p.G76G AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTTTGCTCCGTCCCCCTCCAA 0.537000 3 43 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167550766 167550766 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr6:167550766G>A ENST00000341935.5 + 3 1600 c.1048G>A c.(1048-1050)Ggg>Agg p.G350R CCR6_ENST00000349984.4_Missense_Mutation_p.G350R|CCR6_ENST00000400926.2_Missense_Mutation_p.G350R NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 350 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CTCCTGTGCCGGGAGGTACTC 0.483000 10 36 0 0 1 0 0 EIF3I 8668 broad.mit.edu 37 1 32690027 32690027 + Silent SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:32690027C>T ENST00000373586.1 + 4 273 c.201C>T c.(199-201)gtC>gtT p.V67V EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 67 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) CCAAGCATGTCCTCACTGGCT 0.483000 6 80 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66625511 66625511 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr11:66625511G>A ENST00000309602.4 + 1 539 c.296G>A c.(295-297)cGt>cAt p.R99H PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 99 integral to membrane breast(1)|lung(1)|prostate(1) 3 GAGAGCCTGCGTTCCCTCCAC 0.657000 26 41 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362608 36362608 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr19:36362608C>T ENST00000221891.4 + 5 824 c.632C>T c.(631-633)cCc>cTc p.P211L APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 211 Zinc-binding. apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGTGCTGTCCCCCTCCAGGG 0.637000 14 62 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3445844 3445844 + Silent SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:3445844G>A ENST00000301365.4 - 6 746 c.615C>T c.(613-615)aaC>aaT p.N205N TRPV3_ENST00000576742.1_Silent_p.N205N|TRPV3_ENST00000572519.1_Silent_p.N205N Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 205 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TGTACTCGGCGTTGATGAACC 0.562000 13 25 0 0 1 0 0 ZNF7 7553 broad.mit.edu 37 8 146066910 146066910 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr8:146066910G>A ENST00000528372.1 + 5 658 c.418G>A c.(418-420)Ggg>Agg p.G140R ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R P17097 ZNF7_HUMAN zinc finger protein 7 140 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) GGGCAGTCCCGGGCTGAAAGT 0.507000 5 150 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40802485 40802485 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr22:40802485A>G ENST00000248929.9 + 10 1193 c.1004A>G c.(1003-1005)aAc>aGc p.N335S SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 335 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TCCATCTTCAACACGCTATCG 0.627000 5 36 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124171429 124171429 + Missense_Mutation SNP C C A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr12:124171429C>A ENST00000303372.5 + 6 739 c.611C>A c.(610-612)aCc>aAc p.T204N TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 204 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCCTGCTTCACCGGCGTGTTT 0.527000 54 78 1.13205e-32 1.2797e-32 1 1 0 PAPLN 89932 broad.mit.edu 37 14 73719446 73719446 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:73719446C>T ENST00000427855.1 + 11 1159 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 353 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) AGCTGACCGGCGTTCCTGCAA 0.632000 50 99 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74929125 74929125 + Splice_Site SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:74929125C>T ENST00000370891.2 + 23 2331 c.2314_splice c.e23-1 p.A772_splice TNNI3K_ENST00000326637.3_Splice_Site_p.A671_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.A772_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.A772_splice NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase p.A671E(1) cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TGGTTTGCAGCGGCTGCGGCA 0.443000 8 181 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43696237 43696237 + Missense_Mutation SNP G G A rs144867552 TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr10:43696237G>A ENST00000395809.1 - 5 3065 c.559C>T c.(559-561)Cgg>Tgg p.R187W RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 187 cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 GCCGGTGGCCGGAGCTTCTCT 0.637000 16 54 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11833352 11833352 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:11833352A>G ENST00000262442.3 + 63 12115 c.12047A>G c.(12046-12048)aAt>aGt p.N4016S DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.N328S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4016 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGATCACCAATGAGCCCCCC 0.602000 3 48 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466837 132466837 + Silent SNP G G T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr12:132466837G>T ENST00000333577.4 + 6 1960 c.1851G>T c.(1849-1851)ccG>ccT p.P617P EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P|EP400_ENST00000330386.6_Silent_p.P581P Q96L91 EP400_HUMAN E1A binding protein p400 617 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CACAGCAGCCGCAAGTGGTAG 0.657000 11 94 0.0135373 0.0140788 1 1 0 EBI3 10148 broad.mit.edu 37 19 4231190 4231190 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr19:4231190C>T ENST00000221847.5 + 2 123 c.70C>T c.(70-72)Ccc>Tcc p.P24S NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 24 Fibronectin type-III 1. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCCAGGGCCCCCAGCAGC 0.642000 12 28 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4543619 4543619 + Silent SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr19:4543619C>T ENST00000586582.1 - 17 2971 c.2661G>A c.(2659-2661)gtG>gtA p.V887V SEMA6B_ENST00000301293.3_Silent_p.V887V|SEMA6B_ENST00000586965.1_Intron NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 887 cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCCTAGGGCACGGGGGGCG 0.766000 3 9 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719856 41719856 + Silent SNP G G T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr21:41719856G>T ENST00000400454.1 - 6 1428 c.951C>A c.(949-951)acC>acA p.T317T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 317 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGGACTGATGGTGGCTTTCA 0.473000 3 9 0.184627 0.188247 1 1 0 GSK3B 2932 broad.mit.edu 37 3 119635000 119635000 + Nonsense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr3:119635000G>A ENST00000264235.8 - 5 1481 c.499C>T c.(499-501)Cga>Tga p.R167* GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167* NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 167 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GCTAAACTTCGGAACAGCTGA 0.348000 20 45 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92568223 92568223 + Silent SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr11:92568223C>T ENST00000298047.6 + 14 10076 c.10059C>T c.(10057-10059)gaC>gaT p.D3353D FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3353 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCAGTGAAGACGCCTTGGTGG 0.488000 TCGA Ovarian(4;0.039) 4 19 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1643058 1643058 + Missense_Mutation SNP G G A rs139786043 TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr4:1643058G>A ENST00000308132.6 - 5 1351 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000489363.1_3'UTR NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 387 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) AGCTCCCAGCGGGCCCGGGGG 0.701000 4 67 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88658679 88658679 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:88658679C>T ENST00000340700.5 - 5 1193 c.742G>A c.(742-744)Gtg>Atg p.V248M KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 248 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGGATCGTCACAAACACAATG 0.498000 40 96 0 0 1 0 0 MRPL1 65008 broad.mit.edu 37 4 78815325 78815325 + Silent SNP C C T rs144344573 byFrequency TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr4:78815325C>T ENST00000315567.8 + 6 920 c.591C>T c.(589-591)taC>taT p.Y197Y MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 197 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 CAGACTTTTACGTAGCTGTTC 0.308000 12 68 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45953635 45953635 + Missense_Mutation SNP T T A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr21:45953635T>A ENST00000323084.4 - 3 540 c.475A>T c.(475-477)Aca>Tca p.T159S TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 159 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 AGGACCAGTGTGTGCCAGCGG 0.692000 15 31 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70713623 70713623 + RNA SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:70713623T>C ENST00000530196.1 - 0 895 NR_003951.1 CAAAATTATGTAAGTACCTAA 0.343000 25 25 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702244 179702244 + Silent SNP C C A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:179702244C>A ENST00000420890.2 - 23 3819 c.3702G>T c.(3700-3702)gtG>gtT p.V1234V CCDC141_ENST00000295723.5_Silent_p.V659V|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 659 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAGGCTCTTCCACCTCCATGT 0.572000 3 47 1 1 1 1 0 CRP 1401 broad.mit.edu 37 1 159683405 159683405 + Silent SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:159683405G>A ENST00000255030.5 - 2 688 c.585C>T c.(583-585)ggC>ggT p.G195G CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000343919.2_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 195 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) TGAAGGGCCCGCCAAGATAGA 0.532000 21 82 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11137678 11137678 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:11137678C>T ENST00000544779.1 - 15 1785 c.1780G>A c.(1780-1782)Gga>Aga p.G594R EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000376936.4_Missense_Mutation_p.G594R Q01780 EXOSX_HUMAN exosome component 10 594 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GGCAGCGGTCCGCTCTTCTTC 0.542000 6 62 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480672 146480672 + Nonsense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr6:146480672C>T ENST00000392299.2 + 3 1359 c.889C>T c.(889-891)Cga>Tga p.R297* GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297* Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 297 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R297*(3) 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) CATGACAGTGCGAGGACTCCT 0.567000 12 27 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 26 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062353 144062353 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:144062353G>A ENST00000056217.5 + 2 2765 c.2591G>A c.(2590-2592)aGc>aAc p.S864N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 864 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGGAGCAGGAGCACTCGGGGA 0.602000 4 123 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5780784 5780784 + Silent SNP A A C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:5780784A>C ENST00000425013.2 - 4 917 c.693T>G c.(691-693)tcT>tcG p.S231S RNF216_ENST00000389902.3_Silent_p.S288S NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 231 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GCTGAGGAGAAGAGGGGCCTG 0.542000 18 77 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4167093 4167093 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:4167093G>A ENST00000404826.2 + 26 4043 c.3904G>A c.(3904-3906)Gaa>Aaa p.E1302K SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1302 Fibronectin type-III 7. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATCCGTGCCGGAACAGGACCA 0.537000 9 120 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62189460 62189461 + Splice_Site INS - - A rs147863719 TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:62189460_62189461insA ENST00000371177.2 - 2 177 c.e2-2 TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Intron|TM2D1_ENST00000371180.2_Splice_Site Q9BX74 TM2D1_HUMAN TM2 domain containing 1 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CAAATATATGTAAAAAAAAAAG 0.302 3 3 --- --- --- --- INADL 10207 broad.mit.edu 37 1 62253580 62253580 + Frame_Shift_Del DEL C C - TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:62253580delC ENST00000371158.2 + 8 1118 c.1004delC c.(1003-1005)acfs p.T335fs INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 335 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATTTCAGTCACCCCCCCTGCC 0.502 7 137 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 7 65 --- --- --- --- DMTF1 9988 broad.mit.edu 37 7 86795841 86795851 + Frame_Shift_Del DEL ATAAAAGGCTT ATAAAAGGCTT - TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:86795841_86795851delATAAAAGGCTT ENST00000394703.5 + 6 715_725 c.152_162delATAAAAGGCTT c.(151-162)cfs p.HKRL51fs DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 51 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GAACCTCCACATAAAAGGCTTTGTTTGTCCT 0.365 8 42 --- --- --- --- ADPGK-AS1 0 broad.mit.edu 37 15 73089989 73089990 + RNA INS - - G rs60578716 TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr15:73089989_73089990insG ENST00000563592.1 + 0 2534 NR_040107.1 GGGGGTGGGGTGGGGGGGGTGG 0.584 4 2 --- --- --- --- C16orf74 404550 broad.mit.edu 37 16 85743879 85743881 + In_Frame_Del DEL GCT GCT - TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr16:85743879_85743881delGCT ENST00000602583.1 - 1 575_577 c.25_27delAGC c.(25-27)del p.S9del C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 21 CCTCGTCGTGGCTGCTGCTGCTG 0.635 2 4 --- --- --- ---