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 SRCRB4D 136853 broad.mit.edu 37 7 76029805 76029805 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:76029805G>A ENST00000275560.3 - 4 620 c.273C>T c.(271-273)gaC>gaT p.D91D ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 91 SRCR 1. extracellular region|membrane scavenger receptor activity p.D91D(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 CTACGTTGGCGTCCACCACGT 0.701000 6 7 0 0 0.001984 0 0 BAI1 575 broad.mit.edu 37 8 143603449 143603449 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr8:143603449C>T ENST00000517894.1 + 21 4042 c.3148C>T c.(3148-3150)Cgc>Tgc p.R1050C BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1050 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.R1050C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCGCCTCATCCGCAAGCGCTT 0.652000 10 30 0 0 0.010729 0 0 TET1 80312 broad.mit.edu 37 10 70446226 70446226 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr10:70446226G>A ENST00000373644.4 + 11 5375 c.5166G>A c.(5164-5166)aaG>aaA p.K1722K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1722 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding p.K1722K(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTGGCTCCAAGGAAGGAATGG 0.498000 51 75 0 0 0.014410 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 6 288 0 0 0.001984 0 0 DGKQ 1609 broad.mit.edu 37 4 956320 956320 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr4:956320T>C ENST00000273814.3 - 18 2190 c.2117A>G c.(2116-2118)gAg>gGg p.E706G NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 706 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding p.E706G(1) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGCGTCGGCCTCGTCCACAGA 0.657000 8 22 0 0 0.004482 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117386131 117386131 + Missense_Mutation SNP A A T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:117386131A>T ENST00000160373.3 - 13 3462 c.3371T>A c.(3370-3372)aTt>aAt p.I1124N NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1124 p.I1124N(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCCGTGGAAAATGACATTATG 0.398000 OREG0003442 type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 47 0 0 0.018920 0 0 MEGF10 84466 broad.mit.edu 37 5 126771182 126771182 + Splice_Site SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr5:126771182G>C ENST00000274473.6 + 17 2371 c.e17+1 MEGF10_ENST00000503335.2_Splice_Site NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.?(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGCTCTCAACGTAAGTCTTGT 0.373000 15 17 0 0 0.002450 0 0 IGHG1 0 broad.mit.edu 37 14 106208715 106208715 + RNA SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr14:106208715T>G ENST00000390548.2 - 0 302 TGTCACAAGATTTGGGCTCTG 0.582000 91 130 0 0 0.014410 0 0 HSPA6 3310 broad.mit.edu 37 1 161494903 161494903 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:161494903T>G ENST00000309758.4 + 1 868 c.455T>G c.(454-456)tTc>tGc p.F152C NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 152 response to unfolded protein ATP binding p.F152C(2) endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCCGCCTATTTCAATGACTCG 0.632000 17 44 0 0 0.006122 0 0 SLC45A4 57210 broad.mit.edu 37 8 142222492 142222492 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr8:142222492C>T ENST00000519067.1 - 7 2255 c.1952G>A c.(1951-1953)gGc>gAc p.G651D SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 702 transport integral to membrane p.G651D(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGAAAGAGCCCACAGAGGC 0.627000 18 37 0 0 0.010504 0 0 PRSS58 136541 broad.mit.edu 37 7 141952406 141952406 + Silent SNP A A C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:141952406A>C ENST00000552471.1 - 4 781 c.462T>G c.(460-462)acT>acG p.T154T PRSS58_ENST00000547058.2_Silent_p.T154T Q8IYP2 PRS58_HUMAN protease, serine, 58 154 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.T154T(2) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGATGTTCACAGTTTGCAGTG 0.383000 9 229 0 0 0.006214 0 0 LPPR5 0 broad.mit.edu 37 1 99422183 99422183 + Nonsense_Mutation SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:99422183G>A ENST00000370188.3 - 2 712 c.352C>T c.(352-354)Cga>Tga p.R118* LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118* NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 118 integral to membrane hydrolase activity p.R118*(1) CGGACAGTTCGGCGCACCAGC 0.358000 25 28 0 0 0.018920 0 0 ABCB1 5243 broad.mit.edu 37 7 87138593 87138593 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:87138593T>C ENST00000265724.3 - 27 3904 c.3487A>G c.(3487-3489)Aat>Gat p.N1163D ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1163 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.N1163D(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGACTTACATTAGGCAGTGAC 0.493000 23 178 0 0 0.014323 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600530 1600530 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr20:1600530G>A ENST00000381605.4 - 1 125 c.61C>T c.(61-63)Ctg>Ttg p.L21L SIRPB1_ENST00000568365.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.L21L NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 21 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.L21L(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 AGTCTCCCCAGCAGTAGCGTC 0.562000 28 41 0 0 0.007291 0 0 C1orf192 257177 broad.mit.edu 37 1 161334829 161334829 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:161334829A>G ENST00000367974.1 - 5 465 c.460T>C c.(460-462)Tcc>Ccc p.S154P NM_001013625.2 NP_001013647.2 Q5VTH2 CA192_HUMAN chromosome 1 open reading frame 192 154 p.S154P(1) endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCATCTGGGGAATTGAGGTTG 0.498000 35 70 0 0 0.013726 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 190 0 0 0.001168 0 0 TGOLN2 10618 broad.mit.edu 37 2 85553644 85553644 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:85553644T>C ENST00000377386.3 - 2 1673 c.1211A>G c.(1210-1212)cAc>cGc p.H404R TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R O43493 TGON2_HUMAN trans-golgi network protein 2 404 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding p.H404R(1) CCGCTTGTTGTGATGAGCGAT 0.562000 26 41 0 0 0.005443 0 0 EFCAB14 9813 broad.mit.edu 37 1 47149017 47149017 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:47149017C>T ENST00000371933.3 - 10 2243 c.1267G>A c.(1267-1269)Gcc>Acc p.A423T EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14-AS1_ENST00000418985.1_RNA NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 p.A423T(1) CTTAGTTGGGCAGCTTTCTCA 0.388000 33 60 0 0 0.013726 0 0 ZZEF1 23140 broad.mit.edu 37 17 3980274 3980274 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr17:3980274T>G ENST00000381638.2 - 20 3123 c.2999A>C c.(2998-3000)cAg>cCg p.Q1000P ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1000 calcium ion binding|zinc ion binding p.Q1000P(1) 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 TGCCAGAAACTGGCCCACATC 0.363000 18 40 0 0 0.004990 0 0 TWF1 5756 broad.mit.edu 37 12 44189532 44189532 + Missense_Mutation SNP C C A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr12:44189532C>A ENST00000395510.2 - 9 1038 c.909G>T c.(907-909)ttG>ttT p.L303F TWF1_ENST00000548315.1_Missense_Mutation_p.L310F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000552521.1_Missense_Mutation_p.L205F NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 303 ADF-H 2. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity p.L303F(1) endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) AGTCTGCAGTCAACTCATCCC 0.383000 38 59 8.69298e-16 1.00656e-15 0.006999 1 0 MAP3K10 4294 broad.mit.edu 37 19 40698519 40698519 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr19:40698519A>G ENST00000253055.3 + 1 869 c.581A>G c.(580-582)cAc>cGc p.H194R MAP3K10_ENST00000593906.1_Intron NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 194 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity p.H194R(2) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GTGCCACCTCACGTGCTGGTC 0.642000 10 17 0 0 0.010729 0 0 IGKV2-24 0 broad.mit.edu 37 2 89475970 89475970 + RNA SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:89475970G>C ENST00000484817.1 - 0 231 AGTCTTGGAGGCTGGCCTGGC 0.522000 6 213 0 0 0.001168 0 0 FBLN2 2199 broad.mit.edu 37 3 13663379 13663379 + Missense_Mutation SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr3:13663379G>T ENST00000404922.3 + 9 2379 c.2260G>T c.(2260-2262)Gat>Tat p.D754Y FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 753 EGF-like 3; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.D754Y(1)|p.D173Y(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCTCTGTGCCGATGGCTATAT 0.612000 11 27 3.07112e-06 3.43549e-06 0.010729 1 0 LAMA4 3910 broad.mit.edu 37 6 112441551 112441551 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr6:112441551T>G ENST00000230538.7 - 33 4997 c.4600A>C c.(4600-4602)Aat>Cat p.N1534H LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1534 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.N1527H(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGACCAACATTAAACATGTAA 0.418000 20 16 0 0 0.008871 0 0 ATRX 546 broad.mit.edu 37 X 76891438 76891438 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chrX:76891438A>G ENST00000373344.5 - 16 4881 c.4667T>C c.(4666-4668)aTg>aCg p.M1556T ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1556 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.M1556T(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTGATAACCATATTTCTATG 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 18 5 0 0 0.004990 0 0 IFT122 55764 broad.mit.edu 37 3 129188218 129188218 + Missense_Mutation SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr3:129188218C>G ENST00000296266.3 + 10 1119 c.927C>G c.(925-927)gaC>gaG p.D309E IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 258 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.D309E(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CTGTGGCTGACTGGGGACAGA 0.443000 63 79 0 0 0.014410 0 0 MKI67 4288 broad.mit.edu 37 10 129901213 129901213 + Missense_Mutation SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr10:129901213C>G ENST00000368654.3 - 13 9266 c.8891G>C c.(8890-8892)cGg>cCg p.R2964P MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2964 cell proliferation nucleolus ATP binding|protein C-terminus binding p.R2964P(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTAGGGGCCCGAAGAACTCT 0.493000 58 133 0 0 0.014410 0 0 SPAG16 79582 broad.mit.edu 37 2 214794778 214794778 + Missense_Mutation SNP C C T rs142357329 byFrequency TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:214794778C>T ENST00000331683.5 + 12 1404 c.1309C>T c.(1309-1311)Cgc>Tgc p.R437C SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 437 cilium assembly cilium axoneme|flagellar axoneme p.R437C(2) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGGACACAGCCGCGCAGTGTG 0.438000 49 50 0 0 0.014410 0 0 TPTE2 93492 broad.mit.edu 37 13 20049751 20049751 + Missense_Mutation SNP C C A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr13:20049751C>A ENST00000400230.2 - 5 236 c.192G>T c.(190-192)aaG>aaT p.K64N TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 64 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.K64N(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCACAATTTTCTTAATCTTGC 0.299000 20 33 2.27731e-05 2.50504e-05 0.012319 1 0 C19orf47 126526 broad.mit.edu 37 19 40832339 40832339 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr19:40832339C>T ENST00000582783.1 - 7 617 c.605G>A c.(604-606)cGg>cAg p.R202Q C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 202 p.R135Q(1) endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) AGCAGTGACCCGGCGCCGCTT 0.627000 11 26 0 0 0.010729 0 0 PRSS50 29122 broad.mit.edu 37 3 46759103 46759103 + Missense_Mutation SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr3:46759103G>A ENST00000460241.1 - 7 1801 c.131C>T c.(130-132)cCg>cTg p.P44L PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L Q9UI38 TSP50_HUMAN protease, serine, 50 44 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.P44L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CAGCGCCCCCGGGGCTTCCCC 0.706000 12 17 0 0 0.010729 0 0 ACAP1 9744 broad.mit.edu 37 17 7250419 7250419 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr17:7250419C>T ENST00000158762.3 + 14 1407 c.1201C>T c.(1201-1203)Cct>Tct p.P401S NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 401 intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding p.P401S(1) NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GGGAAGGGAGCCTGGGGGAGT 0.677000 7 40 0 0 0.001984 0 0 XIST 0 broad.mit.edu 37 X 73066388 73066388 + RNA SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chrX:73066388G>T ENST00000429829.1 - 0 6200 NR_001564.2 AATGAGCAGTGTGCGATTACG 0.463000 63 15 2.01871e-26 2.3792e-26 0.014410 1 0 SLC27A4 10999 broad.mit.edu 37 9 131107632 131107632 + Silent SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr9:131107632C>G ENST00000300456.3 + 3 477 c.360C>G c.(358-360)gcC>gcG p.A120A SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 120 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding p.A120A(1) autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TCCTGCAGGCCCGGGGCCTGG 0.622000 16 29 0 0 0.004007 0 0 NID1 4811 broad.mit.edu 37 1 236156998 236156998 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr1:236156998C>T ENST00000264187.6 - 13 2784 c.2702G>A c.(2701-2703)cGc>cAc p.R901H NID1_ENST00000366595.3_Missense_Mutation_p.R768H NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 901 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding p.R901H(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCGGCCGTCGCGATCCACGCA 0.697000 5 12 0 0 0.001168 0 0 ADH1B 125 broad.mit.edu 37 4 100237249 100237249 + Missense_Mutation SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr4:100237249G>T ENST00000305046.8 - 5 440 c.373C>A c.(373-375)Cag>Aag p.Q125K ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 125 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.Q125K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTGCCATCCTGCAGGGTCCCC 0.547000 20 33 6.33239e-15 7.20582e-15 0.010504 1 0 CUX1 1523 broad.mit.edu 37 7 101845118 101845118 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:101845118C>T ENST00000360264.3 + 18 2594 c.2574C>T c.(2572-2574)ggC>ggT p.G858G CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 847 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G847G(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AAGAAACGGGCGGCGGGAAAG 0.687000 5 75 0 0 0.014758 0 0 MUC16 94025 broad.mit.edu 37 19 9061392 9061392 + Missense_Mutation SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr19:9061392G>C ENST00000397910.4 - 3 26257 c.26054C>G c.(26053-26055)aCa>aGa p.T8685R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8687 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T8685R(2)|p.T4318R(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAACACTTGTATTCCCCAG 0.458000 35 45 0 0 0.017118 0 0 CPS1 1373 broad.mit.edu 37 2 211541794 211541794 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:211541794C>T ENST00000233072.5 + 37 4534 c.4338C>T c.(4336-4338)gtC>gtT p.V1446V CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1446 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V1446V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTAAATTTGTCCATGATAATT 0.378000 48 89 0 0 0.014410 0 0 MYLK 4638 broad.mit.edu 37 3 123451902 123451902 + Missense_Mutation SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr3:123451902G>C ENST00000360772.3 - 12 1735 c.1357C>G c.(1357-1359)Ccc>Gcc p.P453A MYLK_ENST00000475616.1_Missense_Mutation_p.P453A|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron Q15746 MYLK_HUMAN myosin light chain kinase 453 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.P453A(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCTCACGGGGGTGCCTTCC 0.572000 6 26 0 0 0.001984 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 26 0 0 0.009096 0 0 SCN3A 6328 broad.mit.edu 37 2 166020180 166020180 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr2:166020180C>T ENST00000283254.7 - 7 1109 c.642G>A c.(640-642)gcG>gcA p.A214A SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000360093.3_Intron NM_001081676.1|NM_006922.3 NP_001075145.1|NP_008853.3 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 214 voltage-gated sodium channel complex voltage-gated sodium channel activity p.A214A(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATGTTCTCAACGCTGAGACAT 0.408000 26 32 0 0 0.007291 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76029805 76029805 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:76029805G>A ENST00000275560.3 - 4 620 c.273C>T c.(271-273)gaC>gaT p.D91D ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 91 SRCR 1. extracellular region|membrane scavenger receptor activity p.D91D(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 CTACGTTGGCGTCCACCACGT 0.701000 6 7 0 0 0.001984 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 78 0 0 0.004482 0 0 C19orf47 126526 broad.mit.edu 37 19 40832339 40832339 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr19:40832339C>T ENST00000582783.1 - 7 617 c.605G>A c.(604-606)cGg>cAg p.R202Q C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 202 p.R135Q(1) endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) AGCAGTGACCCGGCGCCGCTT 0.627000 11 26 0 0 0.010729 0 0 SLC27A4 10999 broad.mit.edu 37 9 131107632 131107632 + Silent SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr9:131107632C>G ENST00000300456.3 + 3 477 c.360C>G c.(358-360)gcC>gcG p.A120A SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 120 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding p.A120A(1) autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TCCTGCAGGCCCGGGGCCTGG 0.622000 16 29 0 0 0.004007 0 0 BAI1 575 broad.mit.edu 37 8 143603449 143603449 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr8:143603449C>T ENST00000517894.1 + 21 4042 c.3148C>T c.(3148-3150)Cgc>Tgc p.R1050C BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1050 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.R1050C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCGCCTCATCCGCAAGCGCTT 0.652000 10 30 0 0 0.010729 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117386131 117386131 + Missense_Mutation SNP A A T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:117386131A>T ENST00000160373.3 - 13 3462 c.3371T>A c.(3370-3372)aTt>aAt p.I1124N NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1124 p.I1124N(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCCGTGGAAAATGACATTATG 0.398000 OREG0003442 type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 47 0 0 0.018920 0 0 MEGF10 84466 broad.mit.edu 37 5 126771182 126771182 + Splice_Site SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr5:126771182G>C ENST00000274473.6 + 17 2371 c.e17+1 MEGF10_ENST00000503335.2_Splice_Site NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.?(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGCTCTCAACGTAAGTCTTGT 0.373000 15 17 0 0 0.002450 0 0 TET1 80312 broad.mit.edu 37 10 70446226 70446226 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr10:70446226G>A ENST00000373644.4 + 11 5375 c.5166G>A c.(5164-5166)aaG>aaA p.K1722K NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1722 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding p.K1722K(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTGGCTCCAAGGAAGGAATGG 0.498000 51 75 0 0 0.014410 0 0 IGHG1 0 broad.mit.edu 37 14 106208715 106208715 + RNA SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr14:106208715T>G ENST00000390548.2 - 0 302 TGTCACAAGATTTGGGCTCTG 0.582000 91 130 0 0 0.014410 0 0 HSPA6 3310 broad.mit.edu 37 1 161494903 161494903 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr1:161494903T>G ENST00000309758.4 + 1 868 c.455T>G c.(454-456)tTc>tGc p.F152C NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 152 response to unfolded protein ATP binding p.F152C(2) endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCCGCCTATTTCAATGACTCG 0.632000 17 44 0 0 0.006122 0 0 SLC45A4 57210 broad.mit.edu 37 8 142222492 142222492 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr8:142222492C>T ENST00000519067.1 - 7 2255 c.1952G>A c.(1951-1953)gGc>gAc p.G651D SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 702 transport integral to membrane p.G651D(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGAAAGAGCCCACAGAGGC 0.627000 18 37 0 0 0.010504 0 0 PRSS58 136541 broad.mit.edu 37 7 141952406 141952406 + Silent SNP A A C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:141952406A>C ENST00000552471.1 - 4 781 c.462T>G c.(460-462)acT>acG p.T154T PRSS58_ENST00000547058.2_Silent_p.T154T Q8IYP2 PRS58_HUMAN protease, serine, 58 154 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.T154T(2) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGATGTTCACAGTTTGCAGTG 0.383000 9 229 0 0 0.006214 0 0 LPPR5 0 broad.mit.edu 37 1 99422183 99422183 + Nonsense_Mutation SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr1:99422183G>A ENST00000370188.3 - 2 712 c.352C>T c.(352-354)Cga>Tga p.R118* LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118* NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 118 integral to membrane hydrolase activity p.R118*(1) CGGACAGTTCGGCGCACCAGC 0.358000 25 28 0 0 0.018920 0 0 ABCB1 5243 broad.mit.edu 37 7 87138593 87138593 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:87138593T>C ENST00000265724.3 - 27 3904 c.3487A>G c.(3487-3489)Aat>Gat p.N1163D ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1163 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.N1163D(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGACTTACATTAGGCAGTGAC 0.493000 23 178 0 0 0.014323 0 0 C1orf192 257177 broad.mit.edu 37 1 161334829 161334829 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr1:161334829A>G ENST00000367974.1 - 5 465 c.460T>C c.(460-462)Tcc>Ccc p.S154P NM_001013625.2 NP_001013647.2 Q5VTH2 CA192_HUMAN chromosome 1 open reading frame 192 154 p.S154P(1) endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCATCTGGGGAATTGAGGTTG 0.498000 35 70 0 0 0.013726 0 0 DGKQ 1609 broad.mit.edu 37 4 956320 956320 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr4:956320T>C ENST00000273814.3 - 18 2190 c.2117A>G c.(2116-2118)gAg>gGg p.E706G NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 706 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding p.E706G(1) breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGCGTCGGCCTCGTCCACAGA 0.657000 8 22 0 0 0.004482 0 0 TGOLN2 10618 broad.mit.edu 37 2 85553644 85553644 + Missense_Mutation SNP T T C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:85553644T>C ENST00000377386.3 - 2 1673 c.1211A>G c.(1210-1212)cAc>cGc p.H404R TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R O43493 TGON2_HUMAN trans-golgi network protein 2 404 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding p.H404R(1) CCGCTTGTTGTGATGAGCGAT 0.562000 26 41 0 0 0.005443 0 0 EFCAB14 9813 broad.mit.edu 37 1 47149017 47149017 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr1:47149017C>T ENST00000371933.3 - 10 2243 c.1267G>A c.(1267-1269)Gcc>Acc p.A423T EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 p.A423T(1) CTTAGTTGGGCAGCTTTCTCA 0.388000 33 60 0 0 0.013726 0 0 ZZEF1 23140 broad.mit.edu 37 17 3980274 3980274 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr17:3980274T>G ENST00000381638.2 - 20 3123 c.2999A>C c.(2998-3000)cAg>cCg p.Q1000P ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1000 calcium ion binding|zinc ion binding p.Q1000P(1) 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 TGCCAGAAACTGGCCCACATC 0.363000 18 40 0 0 0.004990 0 0 TWF1 5756 broad.mit.edu 37 12 44189532 44189532 + Missense_Mutation SNP C C A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr12:44189532C>A ENST00000395510.2 - 9 1038 c.909G>T c.(907-909)ttG>ttT p.L303F TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 303 ADF-H 2. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity p.L303F(1) endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) AGTCTGCAGTCAACTCATCCC 0.383000 38 59 8.69298e-16 1.00304e-15 0.006999 1 0 MAP3K10 4294 broad.mit.edu 37 19 40698519 40698519 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr19:40698519A>G ENST00000253055.3 + 1 869 c.581A>G c.(580-582)cAc>cGc p.H194R MAP3K10_ENST00000593906.1_Intron NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 194 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity p.H194R(2) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GTGCCACCTCACGTGCTGGTC 0.642000 10 17 0 0 0.010729 0 0 IGKV2-24 0 broad.mit.edu 37 2 89475970 89475970 + RNA SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:89475970G>C ENST00000484817.1 - 0 231 AGTCTTGGAGGCTGGCCTGGC 0.522000 6 213 0 0 0.001168 0 0 FBLN2 2199 broad.mit.edu 37 3 13663379 13663379 + Missense_Mutation SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr3:13663379G>T ENST00000404922.3 + 9 2379 c.2260G>T c.(2260-2262)Gat>Tat p.D754Y FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 753 EGF-like 3; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.D754Y(1)|p.D173Y(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCTCTGTGCCGATGGCTATAT 0.612000 11 27 3.07112e-06 3.35031e-06 0.010729 1 0 LAMA4 3910 broad.mit.edu 37 6 112441551 112441551 + Missense_Mutation SNP T T G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr6:112441551T>G ENST00000230538.7 - 33 4997 c.4600A>C c.(4600-4602)Aat>Cat p.N1534H LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H|LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1534 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.N1527H(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGACCAACATTAAACATGTAA 0.418000 20 16 0 0 0.008871 0 0 ATRX 546 broad.mit.edu 37 X 76891438 76891438 + Missense_Mutation SNP A A G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chrX:76891438A>G ENST00000373344.5 - 16 4881 c.4667T>C c.(4666-4668)aTg>aCg p.M1556T ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1556 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.M1556T(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTGATAACCATATTTCTATG 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 18 5 0 0 0.004990 0 0 IFT122 55764 broad.mit.edu 37 3 129188218 129188218 + Missense_Mutation SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr3:129188218C>G ENST00000296266.3 + 10 1119 c.927C>G c.(925-927)gaC>gaG p.D309E IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 258 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.D309E(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CTGTGGCTGACTGGGGACAGA 0.443000 63 79 0 0 0.014410 0 0 MKI67 4288 broad.mit.edu 37 10 129901213 129901213 + Missense_Mutation SNP C C G TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr10:129901213C>G ENST00000368654.3 - 13 9266 c.8891G>C c.(8890-8892)cGg>cCg p.R2964P MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2964 cell proliferation nucleolus ATP binding|protein C-terminus binding p.R2964P(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTAGGGGCCCGAAGAACTCT 0.493000 58 133 0 0 0.014410 0 0 SPAG16 79582 broad.mit.edu 37 2 214794778 214794778 + Missense_Mutation SNP C C T rs142357329 byFrequency TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:214794778C>T ENST00000331683.5 + 12 1404 c.1309C>T c.(1309-1311)Cgc>Tgc p.R437C SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 437 cilium assembly cilium axoneme|flagellar axoneme p.R437C(2) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGGACACAGCCGCGCAGTGTG 0.438000 49 50 0 0 0.014410 0 0 TPTE2 93492 broad.mit.edu 37 13 20049751 20049751 + Missense_Mutation SNP C C A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr13:20049751C>A ENST00000400230.2 - 5 236 c.192G>T c.(190-192)aaG>aaT p.K64N TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 64 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.K64N(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCACAATTTTCTTAATCTTGC 0.299000 20 33 2.27731e-05 2.43997e-05 0.012319 1 0 PRSS50 29122 broad.mit.edu 37 3 46759103 46759103 + Missense_Mutation SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr3:46759103G>A ENST00000460241.1 - 7 1801 c.131C>T c.(130-132)cCg>cTg p.P44L PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L Q9UI38 TSP50_HUMAN protease, serine, 50 44 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.P44L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CAGCGCCCCCGGGGCTTCCCC 0.706000 12 17 0 0 0.010729 0 0 ACAP1 9744 broad.mit.edu 37 17 7250419 7250419 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr17:7250419C>T ENST00000158762.3 + 14 1407 c.1201C>T c.(1201-1203)Cct>Tct p.P401S NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 401 intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding p.P401S(1) NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GGGAAGGGAGCCTGGGGGAGT 0.677000 7 40 0 0 0.001984 0 0 XIST 0 broad.mit.edu 37 X 73066388 73066388 + RNA SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chrX:73066388G>T ENST00000429829.1 - 0 6200 NR_001564.2 AATGAGCAGTGTGCGATTACG 0.463000 63 15 2.01871e-26 2.37496e-26 0.014410 1 0 NID1 4811 broad.mit.edu 37 1 236156998 236156998 + Missense_Mutation SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr1:236156998C>T ENST00000264187.6 - 13 2784 c.2702G>A c.(2701-2703)cGc>cAc p.R901H NID1_ENST00000366595.3_Missense_Mutation_p.R768H NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 901 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding p.R901H(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCGGCCGTCGCGATCCACGCA 0.697000 5 12 0 0 0.001168 0 0 ADH1B 125 broad.mit.edu 37 4 100237249 100237249 + Missense_Mutation SNP G G T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr4:100237249G>T ENST00000305046.8 - 5 440 c.373C>A c.(373-375)Cag>Aag p.Q125K ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 125 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.Q125K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTGCCATCCTGCAGGGTCCCC 0.547000 20 33 6.33239e-15 7.16874e-15 0.010504 1 0 CUX1 1523 broad.mit.edu 37 7 101845118 101845118 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:101845118C>T ENST00000360264.3 + 18 2594 c.2574C>T c.(2572-2574)ggC>ggT p.G858G CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000393824.3_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 847 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G847G(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AAGAAACGGGCGGCGGGAAAG 0.687000 5 75 0 0 0.014758 0 0 MUC16 94025 broad.mit.edu 37 19 9061392 9061392 + Missense_Mutation SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr19:9061392G>C ENST00000397910.4 - 3 26257 c.26054C>G c.(26053-26055)aCa>aGa p.T8685R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8687 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T8685R(2)|p.T4318R(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAACACTTGTATTCCCCAG 0.458000 35 45 0 0 0.017118 0 0 CPS1 1373 broad.mit.edu 37 2 211541794 211541794 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:211541794C>T ENST00000233072.5 + 37 4534 c.4338C>T c.(4336-4338)gtC>gtT p.V1446V CPS1_ENST00000451903.2_Silent_p.V995V|CPS1_ENST00000430249.2_Silent_p.V1452V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1446 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V1446V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTAAATTTGTCCATGATAATT 0.378000 48 89 0 0 0.014410 0 0 MYLK 4638 broad.mit.edu 37 3 123451902 123451902 + Missense_Mutation SNP G G C TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr3:123451902G>C ENST00000360772.3 - 12 1735 c.1357C>G c.(1357-1359)Ccc>Gcc p.P453A MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000475616.1_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron Q15746 MYLK_HUMAN myosin light chain kinase 453 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.P453A(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCTCACGGGGGTGCCTTCC 0.572000 6 26 0 0 0.001984 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 26 0 0 0.009096 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600530 1600530 + Silent SNP G G A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr20:1600530G>A ENST00000381605.4 - 1 125 c.61C>T c.(61-63)Ctg>Ttg p.L21L RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000568365.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.L21L NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 21 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.L21L(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 AGTCTCCCCAGCAGTAGCGTC 0.562000 28 41 0 0 0.007291 0 0 SCN3A 6328 broad.mit.edu 37 2 166020180 166020180 + Silent SNP C C T TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr2:166020180C>T ENST00000283254.7 - 7 1109 c.642G>A c.(640-642)gcG>gcA p.A214A SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000360093.3_Intron NM_001081676.1|NM_006922.3 NP_001075145.1|NP_008853.3 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 214 voltage-gated sodium channel complex voltage-gated sodium channel activity p.A214A(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATGTTCTCAACGCTGAGACAT 0.408000 26 32 0 0 0.007291 0 0 NOX3 50508 broad.mit.edu 37 6 155761273 155761274 + Splice_Site INS - - A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr6:155761273_155761274insA ENST00000159060.2 - 6 589 c.e6-2 NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GGTTGTGTTCTaaaaaaaacaa 0.356 28 33 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 7 511 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 8 243 --- --- --- --- OR51D1 390038 broad.mit.edu 37 11 4661689 4661690 + Frame_Shift_Del DEL CT CT - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr11:4661689_4661690delCT ENST00000357605.2 + 1 745_746 c.669_670delCT c.(667-672)gactfs p.DS223fs NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGTGTGGACTCTCTCTTCAT 0.495 40 76 --- --- --- --- PPP1R13B 23368 broad.mit.edu 37 14 104205266 104205268 + In_Frame_Del DEL GAC GAC - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 ecd9e666-76cf-4984-a6b7-01764f387579 g.chr14:104205266_104205268delGAC ENST00000202556.9 - 13 2967_2969 c.2685_2687delGTC c.(2683-2688)gct>gc p.AS895del PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 895 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCCTTCCAGAGACGCGTCTAGGA 0.626 40 88 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155761273 155761274 + Splice_Site INS - - A TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr6:155761273_155761274insA ENST00000159060.2 - 6 589 c.e6-2 NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GGTTGTGTTCTaaaaaaaacaa 0.356 28 33 --- --- --- --- FAM115C 285966 broad.mit.edu 37 7 143417404 143417405 + Frame_Shift_Del DEL CT CT - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr7:143417404_143417405delCT ENST00000441159.2 + 3 1318_1319 c.1252_1253delCT c.(1252-1254)cfs p.L418fs FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 418 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 CCGCAAGGCGCTCTCTCAATTC 0.530 7 11 --- --- --- --- OR51D1 390038 broad.mit.edu 37 11 4661689 4661690 + Frame_Shift_Del DEL CT CT - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr11:4661689_4661690delCT ENST00000357605.2 + 1 745_746 c.669_670delCT c.(667-672)gactfs p.DS223fs NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGTGTGGACTCTCTCTTCAT 0.495 40 76 --- --- --- --- PPP1R13B 23368 broad.mit.edu 37 14 104205266 104205268 + In_Frame_Del DEL GAC GAC - TCGA-G9-6496-01A-11D-1786-08 TCGA-G9-6496-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 259386a0-60a4-4990-a3c3-36b9bab40927 571e38b2-e5df-48f5-a2e0-4ab54b1e47c5 g.chr14:104205266_104205268delGAC ENST00000202556.9 - 13 2967_2969 c.2685_2687delGTC c.(2683-2688)gct>gc p.AS895del PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 895 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCCTTCCAGAGACGCGTCTAGGA 0.626 40 88 --- --- --- ---