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 ICAM5 7087 broad.mit.edu 37 19 10404518 10404518 + Missense_Mutation SNP A A C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:10404518A>C ENST00000221980.4 + 7 1673 c.1610A>C c.(1609-1611)gAg>gCg p.E537A NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 537 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCCGTCATCGAGGGGCTGTTG 0.662000 21 93 0 0 0.00047179 0 0 BAI3 577 broad.mit.edu 37 6 70049277 70049277 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:70049277A>T ENST00000370598.1 + 26 4161 c.3340A>T c.(3340-3342)Atg>Ttg p.M1114L BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1114 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTTGACGTGGATGTCTGCGGT 0.453000 44 171 0 0 0.000680045 0 0 METTL7A 25840 broad.mit.edu 37 12 51318927 51318927 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:51318927T>C ENST00000548553.1 + 2 1087 c.106T>C c.(106-108)Ttc>Ctc p.F36L METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L Q9H8H3 MET7A_HUMAN methyltransferase like 7A 36 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CAAAAAATGGTTCCCCTACTT 0.488000 17 68 0 0 0.000566183 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161759 57161759 + Missense_Mutation SNP C C T rs141766544 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:57161759C>T ENST00000371244.4 + 6 781 c.715C>T c.(715-717)Cgt>Tgt p.R239C NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 239 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.R239C(1) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATATCTCAATCGTTCTGTCGC 0.428000 10 337 0 0 0.000978159 0 0 INTU 27152 broad.mit.edu 37 4 128626838 128626838 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:128626838A>G ENST00000335251.5 + 11 1762 c.1659A>G c.(1657-1659)aaA>aaG p.K553K INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 553 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TAGCAGCAAAACAAAGAATTG 0.438000 25 127 0 0 0.00278032 0 0 HMCN1 83872 broad.mit.edu 37 1 185931777 185931777 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:185931777C>T ENST00000271588.4 + 12 2185 c.1956C>T c.(1954-1956)atC>atT p.I652I HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 652 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATATGTTTATCGTGGGTTCAC 0.408000 21 95 0 0 0.00188189 0 0 C9 735 broad.mit.edu 37 5 39311238 39311238 + Splice_Site SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:39311238C>T ENST00000263408.4 - 7 1207 c.e7+1 NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCTAGGCATACCTTTCCGCTT 0.368000 17 45 0 0 0.000422831 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 3 39 0 0 6.4e-05 0 0 DSTYK 25778 broad.mit.edu 37 1 205132935 205132935 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:205132935G>A ENST00000367162.3 - 4 1503 c.1473C>T c.(1471-1473)ttC>ttT p.F491F DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 491 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 GGGTTCCGACGAAGCTTTCCC 0.473000 12 52 0 0 0.000978159 0 0 TAAR8 83551 broad.mit.edu 37 6 132874314 132874314 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:132874314G>A ENST00000275200.1 + 1 483 c.483G>A c.(481-483)acG>acA p.T161T NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 161 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TGCCTCTCACGTACAGCGGTG 0.488000 10 341 0 0 0.000673444 0 0 PDZD4 57595 broad.mit.edu 37 X 153073955 153073955 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:153073955G>A ENST00000164640.4 - 2 347 c.156C>T c.(154-156)cgC>cgT p.R52R PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 52 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGGGGGCTGCGTCTCAGCA 0.642000 5 7 0 0 0.00116845 0 0 XPO6 23214 broad.mit.edu 37 16 28115941 28115941 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:28115941C>T ENST00000304658.5 - 21 3372 c.2872G>A c.(2872-2874)Gtg>Atg p.V958M XPO6_ENST00000565698.1_Missense_Mutation_p.V944M NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 958 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CTGGCCAGCACGGTGGACTTG 0.587000 7 60 0 0 0.000157383 0 0 KCNT2 343450 broad.mit.edu 37 1 196254844 196254844 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:196254844C>T ENST00000367433.5 - 22 2669 c.2568G>A c.(2566-2568)ctG>ctA p.L856L KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 880 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGCAAAAGGCAGTCGAAACA 0.373000 15 44 0 0 0.000308642 0 0 KAT5 10524 broad.mit.edu 37 11 65484372 65484372 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:65484372A>G ENST00000341318.4 + 10 1417 c.1183A>G c.(1183-1185)Acg>Gcg p.T395A KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000377046.3_Missense_Mutation_p.T362A NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 362 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GAAAGAATCAACGGAAGACTA 0.592000 22 104 0 0 0.00278032 0 0 BAZ2B 29994 broad.mit.edu 37 2 160193505 160193505 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:160193505C>T ENST00000392783.2 - 33 6239 c.5744G>A c.(5743-5745)tGc>tAc p.C1915Y BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1915 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTGCTGAATGCACAGAGCTAC 0.363000 9 83 0 0 0.000274275 0 0 BEST3 144453 broad.mit.edu 37 12 70091546 70091546 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:70091546A>T ENST00000330891.5 - 2 259 c.33T>A c.(31-33)aaT>aaA p.N11K BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000533674.1_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 11 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAAAAGTTGCATTTGCTACTT 0.353000 28 110 0 0 0.001512 0 0 ZNF442 79973 broad.mit.edu 37 19 12461101 12461101 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:12461101T>C ENST00000242804.4 - 6 1880 c.1298A>G c.(1297-1299)tAt>tGt p.Y433C ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TTTACATTCATAGGGTTTCTC 0.413000 4 87 0 0 0.00116845 0 0 UTRN 7402 broad.mit.edu 37 6 145093097 145093097 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:145093097A>G ENST00000367545.3 + 58 8550 c.8550A>G c.(8548-8550)caA>caG p.Q2850Q UTRN_ENST00000367526.4_Silent_p.Q405Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2850 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTCTTTCAATCCCTTGGTA 0.269000 4 85 0 0 0.00116845 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416515 69416515 + Missense_Mutation SNP G G C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:69416515G>C ENST00000317746.2 - 5 1235 c.1193C>G c.(1192-1194)gCg>gGg p.A398G NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 398 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ATGTTGATCCGCAAACAAGGG 0.463000 56 62 0 0 0.000781405 0 0 GPR112 139378 broad.mit.edu 37 X 135405107 135405107 + Missense_Mutation SNP G G A rs142877839 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:135405107G>A ENST00000394143.1 + 5 532 c.241G>A c.(241-243)Gcc>Acc p.A81T GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 81 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACTAATAACGCCCTCCTGGG 0.448000 53 36 0 0 0.000781405 0 0 PAK2 5062 broad.mit.edu 37 3 196509570 196509570 + Missense_Mutation SNP T T A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:196509570T>A ENST00000327134.3 + 2 375 c.53T>A c.(52-54)aTg>aAg p.M18K NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 18 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCTGTGCGAATGAGCAGCACC 0.443000 10 216 0 0 0.000978159 0 0 ASTN1 460 broad.mit.edu 37 1 176913135 176913135 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:176913135C>T ENST00000367654.2 - 14 2306 c.2293G>A c.(2293-2295)Ggt>Agt p.G765S ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 765 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGTCTAAACCACGAGCAAAG 0.483000 17 59 0 0 0.00152264 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445720 10445720 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:10445720A>G ENST00000326756.3 - 3 2671 c.2233T>C c.(2233-2235)Tat>Cat p.Y745H NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 AAGTGTGGATATATTTGTTGA 0.468000 27 112 0 0 0.000720815 0 0 KCNAB1 7881 broad.mit.edu 37 3 156234121 156234121 + Missense_Mutation SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:156234121G>A ENST00000302490.8 + 11 1745 c.874G>A c.(874-876)Ggg>Agg p.G292R KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 310 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATACGGAAACGGGGTGCCTGA 0.448000 5 96 0 0 0.00116845 0 0 DUS3L 56931 broad.mit.edu 37 19 5790299 5790299 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:5790299C>A ENST00000309061.7 - 2 242 c.146G>T c.(145-147)gGg>gTg p.G49V DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 49 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CTTCTCCTGCCCTTTGGCTTC 0.547000 11 64 4.84862e-15 7.64024e-14 0.000978159 1 0 GPS2 2874 broad.mit.edu 37 17 7217275 7217275 + Missense_Mutation SNP G G C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:7217275G>C ENST00000380728.2 - 6 730 c.430C>G c.(430-432)Ctc>Gtc p.L144V RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V Q13227 GPS2_HUMAN G protein pathway suppressor 2 144 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GCTGCCATGAGGGTGCCTGGG 0.547000 35 90 0 0 0.00111076 0 0 PREX2 80243 broad.mit.edu 37 8 68965472 68965472 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:68965472C>T ENST00000288368.4 + 9 1361 c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 362 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGAAAGAGAACGGCGGAAAGG 0.383000 7 59 0 0 0.000157383 0 0 ANK2 287 broad.mit.edu 37 4 114275162 114275162 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:114275162C>T ENST00000357077.4 + 38 5441 c.5388C>T c.(5386-5388)gaC>gaT p.D1796D ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1763 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAAGGAGGACGTGCCAAAAA 0.517000 22 130 0 0 0.00188189 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 12 0 0 6.4e-05 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459555 122459555 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:122459555G>A ENST00000306103.2 - 8 1247 c.1104C>T c.(1102-1104)ggC>ggT p.G368G HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 368 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) TACCTGTTTGGCCCACCTCCA 0.502000 29 296 0 0 0.00127121 0 0 ICAM5 7087 broad.mit.edu 37 19 10404518 10404518 + Missense_Mutation SNP A A C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr19:10404518A>C ENST00000221980.4 + 7 1673 c.1610A>C c.(1609-1611)gAg>gCg p.E537A NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 537 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCCGTCATCGAGGGGCTGTTG 0.662000 21 93 0 0 0.00047179 0 0 BAI3 577 broad.mit.edu 37 6 70049277 70049277 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr6:70049277A>T ENST00000370598.1 + 26 4161 c.3340A>T c.(3340-3342)Atg>Ttg p.M1114L BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1114 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTTGACGTGGATGTCTGCGGT 0.453000 44 171 0 0 0.000680045 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161759 57161759 + Missense_Mutation SNP C C T rs141766544 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:57161759C>T ENST00000371244.4 + 6 781 c.715C>T c.(715-717)Cgt>Tgt p.R239C NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 239 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.R239C(1) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATATCTCAATCGTTCTGTCGC 0.428000 10 337 0 0 0.000978159 0 0 INTU 27152 broad.mit.edu 37 4 128626838 128626838 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr4:128626838A>G ENST00000335251.5 + 11 1762 c.1659A>G c.(1657-1659)aaA>aaG p.K553K INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 553 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TAGCAGCAAAACAAAGAATTG 0.438000 25 127 0 0 0.00278032 0 0 HMCN1 83872 broad.mit.edu 37 1 185931777 185931777 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:185931777C>T ENST00000271588.4 + 12 2185 c.1956C>T c.(1954-1956)atC>atT p.I652I HMCN1_ENST00000367492.2_Silent_p.I652I|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 652 Ig-like C2-type 3. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATATGTTTATCGTGGGTTCAC 0.408000 21 95 0 0 0.00188189 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 15 0 0 0.000602214 0 0 C9 735 broad.mit.edu 37 5 39311238 39311238 + Splice_Site SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr5:39311238C>T ENST00000263408.4 - 7 1207 c.e7+1 NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCTAGGCATACCTTTCCGCTT 0.368000 17 45 0 0 0.000422831 0 0 DSTYK 25778 broad.mit.edu 37 1 205132935 205132935 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:205132935G>A ENST00000367162.3 - 4 1503 c.1473C>T c.(1471-1473)ttC>ttT p.F491F DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 491 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 GGGTTCCGACGAAGCTTTCCC 0.473000 12 52 0 0 0.000978159 0 0 TAAR8 83551 broad.mit.edu 37 6 132874314 132874314 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr6:132874314G>A ENST00000275200.1 + 1 483 c.483G>A c.(481-483)acG>acA p.T161T NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 161 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TGCCTCTCACGTACAGCGGTG 0.488000 10 341 0 0 0.000673444 0 0 PDZD4 57595 broad.mit.edu 37 X 153073955 153073955 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chrX:153073955G>A ENST00000164640.4 - 2 347 c.156C>T c.(154-156)cgC>cgT p.R52R PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 52 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGGGGGCTGCGTCTCAGCA 0.642000 5 7 0 0 0.00116845 0 0 XPO6 23214 broad.mit.edu 37 16 28115941 28115941 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr16:28115941C>T ENST00000304658.5 - 21 3372 c.2872G>A c.(2872-2874)Gtg>Atg p.V958M XPO6_ENST00000565698.1_Missense_Mutation_p.V944M NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 958 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CTGGCCAGCACGGTGGACTTG 0.587000 7 60 0 0 0.000157383 0 0 KCNT2 343450 broad.mit.edu 37 1 196254844 196254844 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:196254844C>T ENST00000367433.5 - 22 2669 c.2568G>A c.(2566-2568)ctG>ctA p.L856L KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 880 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGCAAAAGGCAGTCGAAACA 0.373000 15 44 0 0 0.000308642 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 24 0 0 0.00024832 0 0 KAT5 10524 broad.mit.edu 37 11 65484372 65484372 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr11:65484372A>G ENST00000341318.4 + 10 1417 c.1183A>G c.(1183-1185)Acg>Gcg p.T395A KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 362 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GAAAGAATCAACGGAAGACTA 0.592000 22 104 0 0 0.00278032 0 0 BAZ2B 29994 broad.mit.edu 37 2 160193505 160193505 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr2:160193505C>T ENST00000392783.2 - 33 6239 c.5744G>A c.(5743-5745)tGc>tAc p.C1915Y BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1915 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTGCTGAATGCACAGAGCTAC 0.363000 9 83 0 0 0.000274275 0 0 BEST3 144453 broad.mit.edu 37 12 70091546 70091546 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr12:70091546A>T ENST00000330891.5 - 2 259 c.33T>A c.(31-33)aaT>aaA p.N11K BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000266661.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 11 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAAAAGTTGCATTTGCTACTT 0.353000 28 110 0 0 0.001512 0 0 ZNF442 79973 broad.mit.edu 37 19 12461101 12461101 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr19:12461101T>C ENST00000242804.4 - 6 1880 c.1298A>G c.(1297-1299)tAt>tGt p.Y433C ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TTTACATTCATAGGGTTTCTC 0.413000 4 87 0 0 0.00116845 0 0 UTRN 7402 broad.mit.edu 37 6 145093097 145093097 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr6:145093097A>G ENST00000367545.3 + 58 8550 c.8550A>G c.(8548-8550)caA>caG p.Q2850Q UTRN_ENST00000367526.4_Silent_p.Q405Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2850 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTCTTTCAATCCCTTGGTA 0.269000 4 85 0 0 0.00116845 0 0 METTL7A 25840 broad.mit.edu 37 12 51318927 51318927 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr12:51318927T>C ENST00000548553.1 + 2 1087 c.106T>C c.(106-108)Ttc>Ctc p.F36L METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L Q9H8H3 MET7A_HUMAN methyltransferase like 7A 36 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CAAAAAATGGTTCCCCTACTT 0.488000 17 68 0 0 0.000566183 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416515 69416515 + Missense_Mutation SNP G G C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr4:69416515G>C ENST00000317746.2 - 5 1235 c.1193C>G c.(1192-1194)gCg>gGg p.A398G NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 398 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ATGTTGATCCGCAAACAAGGG 0.463000 56 62 0 0 0.000781405 0 0 GPR112 139378 broad.mit.edu 37 X 135405107 135405107 + Missense_Mutation SNP G G A rs142877839 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chrX:135405107G>A ENST00000394143.1 + 5 532 c.241G>A c.(241-243)Gcc>Acc p.A81T GPR112_ENST00000287534.4_Missense_Mutation_p.A18T|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000394141.1_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 81 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACTAATAACGCCCTCCTGGG 0.448000 53 36 0 0 0.000781405 0 0 PAK2 5062 broad.mit.edu 37 3 196509570 196509570 + Missense_Mutation SNP T T A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr3:196509570T>A ENST00000327134.3 + 2 375 c.53T>A c.(52-54)aTg>aAg p.M18K NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 18 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCTGTGCGAATGAGCAGCACC 0.443000 10 216 0 0 0.000978159 0 0 ASTN1 460 broad.mit.edu 37 1 176913135 176913135 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:176913135C>T ENST00000367654.2 - 14 2306 c.2293G>A c.(2293-2295)Ggt>Agt p.G765S ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S O14525 ASTN1_HUMAN astrotactin 1 765 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGTCTAAACCACGAGCAAAG 0.483000 17 59 0 0 0.00152264 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445720 10445720 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr4:10445720A>G ENST00000326756.3 - 3 2671 c.2233T>C c.(2233-2235)Tat>Cat p.Y745H NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 AAGTGTGGATATATTTGTTGA 0.468000 27 112 0 0 0.000720815 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 19 0 0 0.00024832 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 12 0 0 6.4e-05 0 0 KCNAB1 7881 broad.mit.edu 37 3 156234121 156234121 + Missense_Mutation SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr3:156234121G>A ENST00000302490.8 + 11 1745 c.874G>A c.(874-876)Ggg>Agg p.G292R KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 310 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATACGGAAACGGGGTGCCTGA 0.448000 5 96 0 0 0.00116845 0 0 DUS3L 56931 broad.mit.edu 37 19 5790299 5790299 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr19:5790299C>A ENST00000309061.7 - 2 242 c.146G>T c.(145-147)gGg>gTg p.G49V DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 49 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CTTCTCCTGCCCTTTGGCTTC 0.547000 11 64 4.84862e-15 7.29779e-14 0.000978159 1 0 GPS2 2874 broad.mit.edu 37 17 7217275 7217275 + Missense_Mutation SNP G G C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr17:7217275G>C ENST00000380728.2 - 6 730 c.430C>G c.(430-432)Ctc>Gtc p.L144V GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V Q13227 GPS2_HUMAN G protein pathway suppressor 2 144 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GCTGCCATGAGGGTGCCTGGG 0.547000 35 90 0 0 0.00111076 0 0 PREX2 80243 broad.mit.edu 37 8 68965472 68965472 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr8:68965472C>T ENST00000288368.4 + 9 1361 c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 362 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGAAAGAGAACGGCGGAAAGG 0.383000 7 59 0 0 0.000157383 0 0 ANK2 287 broad.mit.edu 37 4 114275162 114275162 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr4:114275162C>T ENST00000357077.4 + 38 5441 c.5388C>T c.(5386-5388)gaC>gaT p.D1796D ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1763 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAAGGAGGACGTGCCAAAAA 0.517000 22 130 0 0 0.00188189 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459555 122459555 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr3:122459555G>A ENST00000306103.2 - 8 1247 c.1104C>T c.(1102-1104)ggC>ggT p.G368G HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 368 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) TACCTGTTTGGCCCACCTCCA 0.502000 29 296 0 0 0.00127121 0 0 ERO1LB 56605 broad.mit.edu 37 1 236445067 236445067 + Frame_Shift_Del DEL C C - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:236445067delC ENST00000354619.5 - 1 218 c.17delG c.(16-18)ccfs p.R7fs ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 7 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GCCTGCCCGGCGGACCCCTTG 0.736 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 5 7 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 4 2 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23066789 23066791 + In_Frame_Del DEL AGC AGC - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr20:23066789_23066791delAGC ENST00000246006.4 - 1 186_188 c.39_41delGCT c.(37-42)ctc>ct p.LL13del NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 13 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTGGGTcaggagcagcagcagca 0.709 3 5 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - - GCG TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr20:37555322_37555323insGCG ENST00000217429.4 + 1 368_369 c.327_328insGCG c.(325-330)ggcggc>ggGCGcggc p.109_110GG>GRG NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 79 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.718 2 4 --- --- --- --- ERO1LB 56605 broad.mit.edu 37 1 236445067 236445067 + Frame_Shift_Del DEL C C - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr1:236445067delC ENST00000354619.5 - 1 218 c.17delG c.(16-18)ccfs p.R7fs ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 7 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GCCTGCCCGGCGGACCCCTTG 0.736 2 4 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159820109 159820109 + RNA DEL A A - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr3:159820109delA ENST00000497452.1 - 0 517 TTGACACAGCAAAAAAAAATG 0.443 8 146 --- --- --- --- CCDC96 257236 broad.mit.edu 37 4 7044507 7044509 + In_Frame_Del DEL CTC CTC - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr4:7044507_7044509delCTC ENST00000310085.4 - 1 219_221 c.157_159delGAG c.(157-159)del p.E53del RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 53 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AAGCCGCTTGCTCCTCCTCCTCC 0.729 2 4 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23066789 23066791 + In_Frame_Del DEL AGC AGC - TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0f0145fa-ee69-4761-9991-22d1f7b7684e g.chr20:23066789_23066791delAGC ENST00000246006.4 - 1 186_188 c.39_41delGCT c.(37-42)ctc>ct p.LL13del NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 13 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTGGGTcaggagcagcagcagca 0.709 3 5 --- --- --- ---