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 IQCA1 79781 broad.mit.edu 37 2 237405897 237405897 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:237405897C>T ENST00000409907.3 - 2 519 c.245G>A c.(244-246)cGc>cAc p.R82H IQCA1_ENST00000309507.5_Missense_Mutation_p.R78H|IQCA1_ENST00000431676.2_Missense_Mutation_p.R82H Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 82 ATP binding p.R82H(1)|p.R89H(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CTCCAGGATGCGGCCCATCAC 0.512000 3 23 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950347 27950347 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr9:27950347C>T ENST00000379992.2 - 6 772 c.323G>A c.(322-324)cGt>cAt p.R108H LINGO2_ENST00000308675.3_Missense_Mutation_p.R108H NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 108 integral to membrane p.R108H(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCGGAGGGAACGCAGGTTAAA 0.438000 6 139 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17434251 17434251 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:17434251C>T ENST00000302539.4 - 21 2646 c.2521G>A c.(2521-2523)Gcc>Acc p.A841T ABCC8_ENST00000389817.3_Missense_Mutation_p.A840T NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 840 ABC transporter 1. R -> G (in HHF1). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCTCGGGCCACACTGATT 0.587000 6 29 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79117624 79117624 + Missense_Mutation SNP G G T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr14:79117624G>T ENST00000554719.1 + 3 548 c.57G>T c.(55-57)ttG>ttT p.L19F NRXN3_ENST00000335750.5_Missense_Mutation_p.L19F NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCGCTGACTTGCCTGGCTCCC 0.468000 26 109 3.99451e-17 4.61338e-17 1 1 0 LILRA3 11026 broad.mit.edu 37 19 54802517 54802517 + Silent SNP C C T rs139595343 byFrequency TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:54802517C>T ENST00000391745.1 - 9 1291 c.975G>A c.(973-975)tcG>tcA p.S325S LILRA3_ENST00000251390.3_Silent_p.S308S|LILRA3_ENST00000391744.3_Silent_p.S244S leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGCTGGGGGCCGACCACTCGG 0.677000 16 117 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 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 4 39 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155450209 155450209 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:155450209C>T ENST00000368346.3 - 3 3091 c.2452G>A c.(2452-2454)Gac>Aac p.D818N ASH1L_ENST00000392403.3_Missense_Mutation_p.D818N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 818 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GACAAAAGGTCACTAGAGACA 0.418000 4 90 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31616339 31616339 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:31616339A>G ENST00000395934.2 + 4 411 c.404A>G c.(403-405)gAt>gGt p.D135G ELP4_ENST00000379163.5_Missense_Mutation_p.D135G|ELP4_ENST00000350638.5_Missense_Mutation_p.D135G Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 135 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CCATTACTTGATGATAAATGT 0.294000 9 43 0 0 1 0 0 SIX6 4990 broad.mit.edu 37 14 60976497 60976497 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr14:60976497C>T ENST00000327720.5 + 1 829 c.381C>T c.(379-381)gaC>gaT p.D127D NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 127 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) CCATTTGGGACGGCGAACAGA 0.587000 3 47 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184889 19184889 + Missense_Mutation SNP A A C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr7:19184889A>C ENST00000275461.3 - 1 155 c.97T>G c.(97-99)Ttc>Gtc p.F33V AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 33 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CCGGGTGCGAAGTCGCAGAGG 0.662000 4 88 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23240034 23240034 + Missense_Mutation SNP A A T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:23240034A>T ENST00000400191.3 + 16 2950 c.2932A>T c.(2932-2934)Atg>Ttg p.M978L EPHB2_ENST00000374630.3_Missense_Mutation_p.M978L|EPHB2_ENST00000374632.3_Missense_Mutation_p.M979L|EPHB2_ENST00000374627.1_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 978 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCGGGCGCAGATGAACCAGAT 0.587000 6 65 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77920391 77920391 + Missense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr14:77920391C>A ENST00000553888.1 - 2 565 c.55G>T c.(55-57)Gct>Tct p.A19S VIPAS39_ENST00000448935.2_Missense_Mutation_p.A19S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.A45S|VIPAS39_ENST00000343765.2_Missense_Mutation_p.A19S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.A19S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.A19S NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog AAGGTAAAAGCCTTGAACTTG 0.453000 3 66 0.150653 0.156374 1 1 0 FAP 2191 broad.mit.edu 37 2 163083059 163083059 + Missense_Mutation SNP T T G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:163083059T>G ENST00000188790.4 - 3 371 c.164A>C c.(163-165)aAa>aCa p.K55T FAP_ENST00000443424.1_Missense_Mutation_p.K55T NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 55 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 AAAAAATGTTTTATAAGAAAA 0.299000 10 33 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430688 37430688 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr10:37430688C>T ENST00000374660.1 + 7 794 c.695C>T c.(694-696)gCg>gTg p.A232V ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A232V(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCACCCTTGGCGGAAAGAACA 0.483000 4 56 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25778862 25778862 + Missense_Mutation SNP A A T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr3:25778862A>T ENST00000422724.2 - 4 596 c.512T>A c.(511-513)cTg>cAg p.L171Q NGLY1_ENST00000396649.3_Silent_p.A322A|NGLY1_ENST00000417874.2_Silent_p.A280A|NGLY1_ENST00000428257.1_Silent_p.A322A|NGLY1_ENST00000280700.5_Silent_p.A322A Q96IV0 NGLY1_HUMAN N-glycanase 1 0 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CAAACCCTACAGCTCGGCAGC 0.453000 9 52 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 20 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49490630 49490630 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:49490630G>A ENST00000323798.3 - 3 509 c.313C>T c.(313-315)Cgc>Tgc p.R105C GYS1_ENST00000541188.1_Missense_Mutation_p.R25C|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.R25C NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 105 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) ATCAGCCAGCGCCCGAAATAC 0.617000 5 14 0 0 1 0 0 C9orf50 375759 broad.mit.edu 37 9 132382040 132382040 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr9:132382040C>T ENST00000372478.4 - 2 779 c.578G>A c.(577-579)tGt>tAt p.C193Y NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 193 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) GAGGAATGAACAGTTGGGACA 0.597000 32 140 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104725367 104725367 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr12:104725367G>A ENST00000526691.1 + 12 1760 c.1304G>A c.(1303-1305)tGt>tAt p.C435Y TXNRD1_ENST00000388854.3_Missense_Mutation_p.C435Y|TXNRD1_ENST00000525566.1_Missense_Mutation_p.C533Y|TXNRD1_ENST00000378070.4_Missense_Mutation_p.C482Y|TXNRD1_ENST00000526390.1_Missense_Mutation_p.C427Y|TXNRD1_ENST00000542918.1_Missense_Mutation_p.C433Y|TXNRD1_ENST00000524698.1_Missense_Mutation_p.C383Y|TXNRD1_ENST00000427956.1_Missense_Mutation_p.C498Y|TXNRD1_ENST00000354940.6_Missense_Mutation_p.C383Y|TXNRD1_ENST00000429002.2_Missense_Mutation_p.C533Y|TXNRD1_ENST00000503506.2_Missense_Mutation_p.C383Y|TXNRD1_ENST00000397736.2_Missense_Mutation_p.C427Y|TXNRD1_ENST00000526950.1_Missense_Mutation_p.C452Y|TXNRD1_ENST00000529546.1_Missense_Mutation_p.C345Y|TXNRD1_ENST00000540716.1_Missense_Mutation_p.C345Y NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 533 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TATGGTGCTTGTGGCCTTTCT 0.348000 16 35 0 0 1 0 0 CERS4 79603 broad.mit.edu 37 19 8321589 8321589 + Missense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:8321589C>A ENST00000558331.1 + 8 913 c.454C>A c.(454-456)Cgc>Agc p.R152S CERS4_ENST00000251363.5_Missense_Mutation_p.R203S|CERS4_ENST00000559450.1_Missense_Mutation_p.R203S|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.R203S Q9HA82 CERS4_HUMAN ceramide synthase 4 203 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGATGTCAAGCGCAAGGTGAG 0.572000 3 92 0.115264 0.121175 1 1 0 OR2M3 127062 broad.mit.edu 37 1 248367070 248367070 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:248367070G>A ENST00000456743.1 + 1 739 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAGAGGGTCGTCGCAAAGCT 0.463000 85 381 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179583966 179583966 + Missense_Mutation SNP C C T rs141922757 by1000genomes TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:179583966C>T ENST00000589042.1 - 83 24375 c.24151G>A c.(24151-24153)Gac>Aac p.D8051N TTN_ENST00000591111.1_Missense_Mutation_p.D7734N|TTN_ENST00000342992.6_Missense_Mutation_p.D6807N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7734 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCCTGTGTCGGAGGGCTCC 0.498000 29 91 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4008954 4008954 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr7:4008954C>T ENST00000404826.2 + 11 1751 c.1612C>T c.(1612-1614)Cta>Tta p.L538L SDK1_ENST00000389531.3_Silent_p.L538L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 538 Ig-like C2-type 5. 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) ATCGGGGGGTCTACAGATCGC 0.542000 8 345 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35849929 35849929 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:35849929G>A ENST00000327809.4 + 2 338 c.137G>A c.(136-138)cGc>cAc p.R46H FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 46 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTGCAGCGCCGCCCGGTGGCC 0.637000 36 107 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89939662 89939662 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr5:89939662C>T ENST00000405460.2 + 14 2692 c.2596C>T c.(2596-2598)Cgg>Tgg p.R866W NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 866 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCACGGAGAACGGGAAAGCAA 0.378000 3 24 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645331 19645331 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:19645331C>T ENST00000457500.2 - 4 1004 c.675G>A c.(673-675)ctG>ctA p.L225L ALDH3A1_ENST00000444455.1_Silent_p.L225L|ALDH3A1_ENST00000494157.2_Silent_p.L152L|ALDH3A1_ENST00000225740.6_Silent_p.L225L|ALDH3A1_ENST00000395555.3_Silent_p.L225L NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 225 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGGCCACGTCCAGGTCACAGT 0.607000 11 47 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372552 175372552 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:175372552G>A ENST00000367674.1 - 4 1408 c.700C>T c.(700-702)Cgg>Tgg p.R234W TNR_ENST00000263525.2_Missense_Mutation_p.R234W NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 234 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTTGGGCACCGGAGTTCGGAA 0.652000 83 214 0 0 1 0 0 GSX1 219409 broad.mit.edu 37 13 28368023 28368023 + Nonsense_Mutation SNP G G T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr13:28368023G>T ENST00000302945.2 + 2 781 c.733G>T c.(733-735)Gaa>Taa p.E245* NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 245 positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GGATGACGACGAATTGCCCAT 0.677000 7 42 1.06961e-07 1.21817e-07 1 1 0 SDK1 221935 broad.mit.edu 37 7 3678652 3678652 + Silent SNP T T C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr7:3678652T>C ENST00000404826.2 + 3 614 c.475T>C c.(475-477)Ttg>Ctg p.L159L SDK1_ENST00000389531.3_Silent_p.L159L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 159 Ig-like C2-type 1. 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) TATTCCATCTTTGCAGAAGCT 0.398000 8 24 0 0 1 0 0 GPATCH4 54865 broad.mit.edu 37 1 156565217 156565217 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:156565217C>T ENST00000368232.4 - 8 1033 c.901G>A c.(901-903)Gag>Aag p.E301K GPATCH4_ENST00000438976.2_Missense_Mutation_p.E306K NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 301 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCATCTTCTCCTCTTCATGG 0.537000 25 184 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33585880 33585880 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:33585880A>G ENST00000299977.4 + 2 319 c.171A>G c.(169-171)atA>atG p.I57M SLFN5_ENST00000592325.1_Missense_Mutation_p.I57M|SLFN5_ENST00000542451.1_Missense_Mutation_p.I57M NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 57 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GTGGGGGCATAATCAAGGCTG 0.478000 11 66 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111082290 111082290 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr13:111082290G>A ENST00000360467.5 + 8 842 c.536G>A c.(535-537)cGc>cAc p.R179H NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 179 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AAAGAGGAGCGCGACAGATAT 0.428000 3 57 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39077728 39077728 + Missense_Mutation SNP T T C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr4:39077728T>C ENST00000261425.3 + 3 679 c.527T>C c.(526-528)gTa>gCa p.V176A KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000508137.2_Missense_Mutation_p.V35A|KLHL5_ENST00000381930.3_Missense_Mutation_p.V222A|KLHL5_ENST00000359687.2_Missense_Mutation_p.V222A|KLHL5_ENST00000504108.1_Missense_Mutation_p.V222A NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 222 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TTGTGTGATGTAATTTTAGTC 0.343000 3 52 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507364 26507364 + Silent SNP C C T rs113096800 byFrequency TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:26507364C>T ENST00000361530.6 + 3 514 c.369C>T c.(367-369)gaC>gaT p.D123D CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Silent_p.D123D Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 123 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) ATGAAGCTGACGCCCTCCTCT 0.572000 5 93 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44699003 44699003 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr20:44699003C>T ENST00000290231.6 - 3 375 c.211G>A c.(211-213)Gat>Aat p.D71N NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 71 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TCTCTGTGATCCCGCAAATCT 0.557000 29 180 0 0 1 0 0 SYT8 90019 broad.mit.edu 37 11 1856654 1856654 + Missense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:1856654C>A ENST00000535046.1 + 3 679 c.679C>A c.(679-681)Ctg>Atg p.L227M SYT8_ENST00000381968.3_Missense_Mutation_p.L89M|SYT8_ENST00000341958.3_Missense_Mutation_p.L75M|SYT8_ENST00000436964.2_Missense_Mutation_p.L75M Q8NBV8 SYT8_HUMAN synaptotagmin VIII 89 acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTCCGTGGGTCTGGGCAGTGC 0.677000 6 9 0.0293803 0.0312882 1 1 0 SPTBN5 51332 broad.mit.edu 37 15 42169382 42169382 + Nonsense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr15:42169382G>A ENST00000320955.6 - 18 3870 c.3643C>T c.(3643-3645)Cga>Tga p.R1215* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1215 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCCACTTCTCGGCCAAACTTC 0.607000 11 46 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376677 52376677 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:52376677C>T ENST00000420592.1 - 6 1722 c.389G>A c.(388-390)gGt>gAt p.G130D ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.G130D|ZNF577_ENST00000301399.5_Missense_Mutation_p.G189D|ZNF577_ENST00000412216.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CCCACATTCACCACATCCATG 0.468000 24 77 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62200050 62200050 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr20:62200050C>T ENST00000467148.1 - 5 1460 c.1391G>A c.(1390-1392)cGc>cAc p.R464H NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAGGACCAGGCGGGCCTCAGG 0.687000 6 19 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4423358 4423358 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:4423358A>G ENST00000301280.5 + 6 1375 c.1274A>G c.(1273-1275)aAg>aGg p.K425R NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 425 Arg/Glu/Lys-rich. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AAAAGGAAAAAGGAAGAAGAG 0.483000 Chromatin Structure 3 48 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62489325 62489325 + Silent SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:62489325G>A ENST00000301785.5 - 8 1641 c.1449C>T c.(1447-1449)gtC>gtT p.V483V RP11-831H9.16_ENST00000403734.2_Silent_p.V483V NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 483 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAGCTCCCAGGACATTGTATC 0.438000 17 256 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66670114 66670114 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:66670114C>T ENST00000488550.1 + 6 863 c.564C>T c.(562-564)gaC>gaT p.D188D MEIS1_ENST00000444274.2_Silent_p.D156D|MEIS1_ENST00000272369.9_Silent_p.D188D|MEIS1_ENST00000398506.2_Silent_p.D186D|MEIS1_ENST00000407092.2_Silent_p.D188D|MEIS1_ENST00000560281.2_Silent_p.D188D|MEIS1_ENST00000495021.2_Silent_p.D123D O00470 MEIS1_HUMAN Meis homeobox 1 188 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 TGGTGATAGACGATAGAGAAG 0.378000 33 163 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111650791 111650791 + Missense_Mutation SNP T T A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr6:111650791T>A ENST00000435970.1 - 27 8767 c.7951A>T c.(7951-7953)Aat>Tat p.N2651Y REV3L_ENST00000368805.1_Missense_Mutation_p.N2729Y|REV3L_ENST00000358835.3_Missense_Mutation_p.N2729Y|REV3L_ENST00000368802.3_Missense_Mutation_p.N2729Y O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2729 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AATGTGACATTTGCTATCAGC 0.398000 DNA polymerases (catalytic subunits) 58 179 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58189899 58189899 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:58189899A>G ENST00000302581.2 - 1 887 c.836T>C c.(835-837)aTc>aCc p.I279T NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATGGGGATGATCATAGCATA 0.458000 21 57 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131395180 131395180 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr9:131395180C>T ENST00000372739.3 + 56 7364 c.7254C>T c.(7252-7254)ttC>ttT p.F2418F SPTAN1_ENST00000372731.4_Silent_p.F2413F|SPTAN1_ENST00000358161.5_Silent_p.F2418F NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2413 EF-hand 3. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AGAGCGCCTTCCGGGCCCTCA 0.542000 34 122 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466134 56466134 + Missense_Mutation SNP G G A rs142225833 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:56466134G>A ENST00000291971.3 + 3 781 c.710G>A c.(709-711)cGc>cAc p.R237H NLRP8_ENST00000590542.1_Missense_Mutation_p.R237H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 237 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCCCACAAGCGCTGGTGTGCT 0.527000 24 71 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256609 7256609 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:7256609C>T ENST00000333751.3 + 1 1402 c.348C>T c.(346-348)tcC>tcT p.S116S RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 116 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) AGCTGAGCTCCGTCCAGGTGG 0.622000 11 118 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942344 6942344 + Nonsense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:6942344C>T ENST00000317834.3 + 1 140 c.112C>T c.(112-114)Cag>Tag p.Q38* NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACAGGACTTGCAGACCCAGAT 0.428000 16 63 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45671545 45671545 + Missense_Mutation SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr21:45671545C>T ENST00000270172.3 - 9 1213 c.730G>A c.(730-732)Gcc>Acc p.A244T DNMT3L_ENST00000418993.1_Missense_Mutation_p.A244T NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 244 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGAGGTGTGGCGCCGTACACA 0.652000 6 58 0 0 1 0 0 SPTLC2 9517 broad.mit.edu 37 14 78045373 78045373 + Missense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr14:78045373C>A ENST00000216484.2 - 3 600 c.407G>T c.(406-408)cGg>cTg p.R136L NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 136 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACAGATTGGCCGATTCCAGTT 0.408000 3 66 1 1 1 1 0 HSD17B3 3293 broad.mit.edu 37 9 99006665 99006665 + Silent SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr9:99006665G>A ENST00000375263.3 - 9 665 c.618C>T c.(616-618)tgC>tgT p.C206C HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.C206C NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 206 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) TGGAAAATGCGCACACAAACG 0.542000 14 70 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195699 3195699 + Missense_Mutation SNP T T C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:3195699T>C ENST00000323404.1 - 1 177 c.178A>G c.(178-180)Acc>Gcc p.T60A RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TACATGGGGGTGTGGAGTTTG 0.562000 3 78 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 196 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202742306 202742306 + Missense_Mutation SNP T T A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:202742306T>A ENST00000367265.3 - 4 1680 c.516A>T c.(514-516)agA>agT p.R172S KDM5B_ENST00000367264.2_Missense_Mutation_p.R172S NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 172 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CATAATGCCCTCTGATATGTG 0.448000 35 94 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153332524 153332524 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr4:153332524C>T ENST00000281708.4 - 2 1661 c.432G>A c.(430-432)acG>acA p.T144T FBXW7_ENST00000603548.1_Silent_p.T144T|FBXW7_ENST00000604872.1_Silent_p.T144T|FBXW7_ENST00000603841.1_Silent_p.T144T NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 144 T -> R (in dbSNP:rs7660281). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.T144T(2) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACTGGAGTTCGTGACACTGT 0.423000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 13 70 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161529866 161529866 + Missense_Mutation SNP G G A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr6:161529866G>A ENST00000392142.4 + 22 4359 c.4211G>A c.(4210-4212)cGg>cAg p.R1404Q MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1350Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1354Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1400Q NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1404 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AATCTGGTTCGGTATTTTGGT 0.433000 39 169 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933130 83933130 + Silent SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr15:83933130A>G ENST00000345382.2 - 4 958 c.873T>C c.(871-873)acT>acC p.T291T BNC1_ENST00000569704.1_Silent_p.T284T|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 291 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGGAACTGGAAGTTAAGAAGC 0.458000 4 66 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216074160 216074160 + Missense_Mutation SNP G G C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:216074160G>C ENST00000366943.2 - 39 7774 c.7388C>G c.(7387-7389)gCt>gGt p.A2463G RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.A2463G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2463 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAGCCAGGAGCGTTATTACG 0.517000 HNSCC(13;0.011) 16 106 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785491 111785491 + Missense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr12:111785491C>A ENST00000261726.6 + 22 3977 c.3823C>A c.(3823-3825)Ctg>Atg p.L1275M NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1275 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CGTGAAGGAACTGGAGCTTCA 0.622000 3 57 0.004672 0.00510805 1 1 0 CADM2 253559 broad.mit.edu 37 3 85932502 85932502 + Silent SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr3:85932502C>A ENST00000383699.3 + 4 927 c.300C>A c.(298-300)gtC>gtA p.V100V CADM2_ENST00000405615.2_Silent_p.V93V|CADM2_ENST00000407528.2_Silent_p.V91V NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 91 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTATTAGTGTCAGTGATGTGT 0.413000 3 61 0.0215528 0.0232543 1 1 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr20:57484421G>A ENST00000371100.4 + 8 3083 c.2531G>A c.(2530-2532)cGt>cAt p.R844H GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 14 27 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2046716 2046716 + Silent SNP C C T rs141326692 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr8:2046716C>T ENST00000262113.4 + 19 2484 c.2343C>T c.(2341-2343)taC>taT p.Y781Y MYOM2_ENST00000523438.1_Silent_p.Y206Y NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 781 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GCTCACTCTACGAGTTCAAAA 0.547000 7 29 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124766537 124766537 + Missense_Mutation SNP G G A rs112424754 byFrequency TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:124766537G>A ENST00000306534.3 - 3 915 c.430C>T c.(430-432)Cgg>Tgg p.R144W ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 144 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACCATGTCCCGAGGCTGGATC 0.612000 6 28 0 0 1 0 0 TMEM9 252839 broad.mit.edu 37 1 201115927 201115927 + Nonsense_Mutation SNP C C A TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:201115927C>A ENST00000367330.1 - 3 724 c.208G>T c.(208-210)Gag>Tag p.E70* TMEM9_ENST00000367334.5_Nonsense_Mutation_p.E70*|TMEM9_ENST00000367329.1_Nonsense_Mutation_p.E70*|TMEM9_ENST00000367333.1_Nonsense_Mutation_p.E73*|TMEM9_ENST00000367332.1_Nonsense_Mutation_p.E73* Q9P0T7 TMEM9_HUMAN transmembrane protein 9 70 transport integral to membrane|late endosome membrane|lysosomal membrane liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) CAGTAGGCCTCCACGTCATGG 0.622000 5 178 0.217242 0.222673 1 1 0 ACSS3 79611 broad.mit.edu 37 12 81647172 81647172 + Silent SNP T T C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr12:81647172T>C ENST00000548058.1 + 14 2716 c.1806T>C c.(1804-1806)tgT>tgC p.C602C ACSS3_ENST00000548324.1_Silent_p.C284C|ACSS3_ENST00000261206.3_Silent_p.C601C Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 602 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TAGCACTCTGTGTATTGAGAA 0.418000 5 271 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 70 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79323838 79323838 + Missense_Mutation SNP A A T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr15:79323838A>T ENST00000419573.3 - 8 1440 c.1166T>A c.(1165-1167)aTc>aAc p.I389N RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I389N NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 389 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAGGGTCAGGATGTACCTGGG 0.622000 7 33 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879984 39879984 + Silent SNP G G T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr1:39879984G>T ENST00000530275.1 + 1 3834 c.3639G>T c.(3637-3639)gtG>gtT p.V1213V MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1213 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGACTCAGTGCCTATTTCAG 0.527000 8 32 0.000157383 0.000174398 1 1 0 EDAR 10913 broad.mit.edu 37 2 109546673 109546673 + Missense_Mutation SNP G G T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:109546673G>T ENST00000409271.1 - 4 520 c.77C>A c.(76-78)gCg>gAg p.A26E EDAR_ENST00000376651.1_Missense_Mutation_p.A26E|EDAR_ENST00000258443.2_Missense_Mutation_p.A26E Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 26 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TGAGTATTCCGCTCGGGCTGA 0.587000 3 94 1 1 1 1 0 WDR75 84128 broad.mit.edu 37 2 190335579 190335579 + Missense_Mutation SNP A A G TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr2:190335579A>G ENST00000314761.4 + 18 2084 c.2024A>G c.(2023-2025)gAa>gGa p.E675G NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 675 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TCTCCAGAAGAAAAACTCACA 0.353000 4 27 0 0 1 0 0 UPK2 7379 broad.mit.edu 37 11 118828883 118828883 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:118828883C>T ENST00000264031.2 + 5 530 c.495C>T c.(493-495)gtC>gtT p.V165V UPK2_ENST00000534788.1_3'UTR NM_006760.3 NP_006751.1 O00526 UPK2_HUMAN uroplakin 2 165 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TGCTCTCTGTCGCCATGTTCC 0.607000 24 69 0 0 1 0 0 LRRC59 55379 broad.mit.edu 37 17 48470103 48470103 + Silent SNP G G C TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:48470103G>C ENST00000225972.7 - 3 556 c.321C>G c.(319-321)ctC>ctG p.L107L NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 107 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TTGTTACCTTGAGCTGAGCAA 0.547000 22 79 0 0 1 0 0 RP3-368B9.2 0 broad.mit.edu 37 4 3634997 3634998 + RNA INS - - CCCTC rs112046897 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr4:3634997_3634998insCCCTC ENST00000505702.1 + 0 218 TCCTCCCTGGtccctcccctcc 0.604 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 5 4 --- --- --- --- GALR2 8811 broad.mit.edu 37 17 74073448 74073457 + Frame_Shift_Del DEL GTCCTGGCCC GTCCTGGCCC - rs67693166 TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr17:74073448_74073457delGTCCTGGCCC ENST00000329003.3 + 2 1190_1199 c.1100_1109delGTCCTGGCCC c.(1099-1110)tgfs p.CPGP367fs NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 367 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG 0.657 4 3 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 3 6 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:9361740_9361741insT ENST00000456448.1 + 1 135_136 c.21_22insT c.(19-24)ctttttfs p.LF7fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TTCCAATTCTCTTTTTTTTTTT 0.386 3 3 --- --- --- --- RNF225 646862 broad.mit.edu 37 19 58907569 58907571 + In_Frame_Del DEL AGG AGG - TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chr19:58907569_58907571delAGG ENST00000601382.1 + 1 113_115 c.113_115delAGG c.(112-117)cag>c p.38del NM_001195135.1 NP_001182064.1 GGGGAAGACCaggaggaggagga 0.724 2 4 --- --- --- --- ZXDB 158586 broad.mit.edu 37 X 57618954 57618954 + Frame_Shift_Del DEL C C - TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 704aee9f-935e-456c-989f-dc4be330c469 1c9f9de0-6a4f-420c-96e4-4db690e463b7 g.chrX:57618954delC ENST00000374888.1 + 1 686 c.473delC c.(472-474)gcfs p.A158fs NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 ccgatctccgcccccggcccc 0.746 2 4 --- --- --- ---