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 KRTAP27-1 643812 broad.mit.edu 37 21 31709410 31709410 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr21:31709410C>G ENST00000382835.2 - 1 602 c.577G>C c.(577-579)Gaa>Caa p.E193Q NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 193 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CAAGTTGGTTCAACTCCTGGA 0.443000 23 24 0 0 0.069288 0 0 FAM71F1 84691 broad.mit.edu 37 7 128359080 128359080 + Silent SNP T T A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:128359080T>A ENST00000315184.5 + 3 683 c.630T>A c.(628-630)atT>atA p.I210I FAM71F1_ENST00000485070.1_Silent_p.I111I|FAM71F1_ENST00000469348.1_3'UTR NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 210 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACCCTAGGATTCTTGTCACGC 0.537000 5 108 0 0 0.014758 0 0 ZNF337 26152 broad.mit.edu 37 20 25657009 25657009 + Silent SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr20:25657009G>C ENST00000376436.1 - 4 1454 c.915C>G c.(913-915)tcC>tcG p.S305S ZNF337_ENST00000538750.1_Silent_p.S273S|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.S305S|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGTTGTATGAGGACTTATCGT 0.473000 79 127 0 0 0.139131 0 0 RUNX1T1 862 broad.mit.edu 37 8 93027012 93027012 + Missense_Mutation SNP T T C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr8:93027012T>C ENST00000523629.1 - 4 717 c.263A>G c.(262-264)aAt>aGt p.N88S RUNX1T1_ENST00000396218.1_Missense_Mutation_p.N61S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.N99S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.N88S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.N51S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.N51S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.N61S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 88 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGGGGCGCCATTCAAGGCTGT 0.517000 3 46 0 0 0.014758 0 0 KIAA0020 9933 broad.mit.edu 37 9 2829887 2829887 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:2829887G>A ENST00000397885.2 - 8 945 c.739C>T c.(739-741)Cgg>Tgg p.R247W KIAA0020_ENST00000469168.1_5'UTR NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 247 PUM-HD. endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) TCCGCATGCCGCAGCATCTTC 0.438000 5 122 0 0 0.014758 0 0 C1orf173 127254 broad.mit.edu 37 1 75037078 75037078 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:75037078C>T ENST00000326665.5 - 14 4534 c.4316G>A c.(4315-4317)cGg>cAg p.R1439Q C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1439 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGAGGTCTTCCGCTCCAGGGC 0.612000 14 126 0 0 0.105934 0 0 FOXM1 2305 broad.mit.edu 37 12 2968408 2968408 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:2968408G>A ENST00000342628.2 - 10 1915 c.1802C>T c.(1801-1803)tCa>tTa p.S601L ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.S563L|FOXM1_ENST00000361953.3_Missense_Mutation_p.S548L NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 563 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGGCCCCTCTGAGAAGAGCAG 0.612000 20 30 0 0 0.043863 0 0 HEATR1 55127 broad.mit.edu 37 1 236718636 236718636 + Silent SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:236718636A>G ENST00000366582.3 - 41 5997 c.5883T>C c.(5881-5883)ccT>ccC p.P1961P HEATR1_ENST00000366581.2_Silent_p.P1880P NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1961 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGTCAGCAAAAGGCTTCACTA 0.483000 3 122 0 0 0.115264 0 0 HBP1 26959 broad.mit.edu 37 7 106826251 106826251 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:106826251C>G ENST00000222574.4 + 4 590 c.404C>G c.(403-405)tCt>tGt p.S135C HBP1_ENST00000485846.1_Missense_Mutation_p.S135C|HBP1_ENST00000468410.1_Missense_Mutation_p.S135C NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 135 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 TTTAGATCATCTCCTGTACAC 0.393000 54 85 0 0 0.139131 0 0 FBXW7 55294 broad.mit.edu 37 4 153249401 153249401 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:153249401C>T ENST00000281708.4 - 9 2606 c.1377G>A c.(1375-1377)ggG>ggA p.G459G FBXW7_ENST00000603548.1_Silent_p.G459G|FBXW7_ENST00000263981.5_Silent_p.G379G|FBXW7_ENST00000603841.1_Silent_p.G459G|FBXW7_ENST00000296555.5_Silent_p.G341G|FBXW7_ENST00000393956.3_Silent_p.G283G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 459 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.?(1) 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) TGGAAGTATGCCCATATAAGG 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 4 184 0 0 0.150653 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 95 0 0 0.115264 0 0 IL12RB2 3595 broad.mit.edu 37 1 67787297 67787297 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:67787297G>C ENST00000262345.1 + 3 729 c.89G>C c.(88-90)aGa>aCa p.R30T IL12RB2_ENST00000544434.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R30T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R30T NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 30 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 GCGTGCAAGAGAGGCGATGTG 0.393000 33 66 0 0 0.173368 0 0 LCTL 197021 broad.mit.edu 37 15 66855887 66855887 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:66855887G>A ENST00000341509.5 - 4 578 c.447C>T c.(445-447)ccC>ccT p.P149P LCTL_ENST00000537670.1_5'UTR NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 149 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGTCACGATGGGAGTGATGT 0.527000 20 34 0 0 0.076483 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684007 113684007 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:113684007C>T ENST00000295878.3 - 17 2952 c.2806G>A c.(2806-2808)Gaa>Aaa p.E936K NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 936 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTGGCTCATTCGTTCACCAGA 0.438000 20 111 0 0 0.076483 0 0 RRP15 51018 broad.mit.edu 37 1 218475717 218475717 + Missense_Mutation SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:218475717G>T ENST00000366932.3 + 2 251 c.221G>T c.(220-222)tGt>tTt p.C74F RRP15_ENST00000491428.1_3'UTR NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 74 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) GCTGAGCCCTGTGACAAAGAA 0.428000 23 30 1.64293e-13 1.76615e-13 0.083992 1 0 DDX60L 91351 broad.mit.edu 37 4 169383027 169383027 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:169383027C>T ENST00000511577.1 - 5 676 c.429G>A c.(427-429)ctG>ctA p.L143L DDX60L_ENST00000505890.1_Silent_p.L143L|DDX60L_ENST00000260184.7_Silent_p.L143L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 143 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGAAACTATCAGAAAATACG 0.378000 4 13 0 0 0.021553 0 0 TMEM222 84065 broad.mit.edu 37 1 27657224 27657224 + Missense_Mutation SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:27657224A>G ENST00000374076.4 + 2 246 c.208A>G c.(208-210)Atc>Gtc p.I70V NM_032125.2 NP_115501.2 Q9H0R3 TM222_HUMAN transmembrane protein 222 70 integral to membrane protein binding p.I70V(1) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 GTTTTTCCCCATCATCGGCCA 0.582000 74 148 0 0 0.139131 0 0 PRPF8 10594 broad.mit.edu 37 17 1582626 1582626 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:1582626C>T ENST00000572621.1 - 9 1633 c.1368G>A c.(1366-1368)ctG>ctA p.L456L PRPF8_ENST00000304992.6_Silent_p.L456L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 456 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCAGGGCATTCAGCACATAGT 0.542000 38 66 0 0 0.080422 0 0 LOC220729 220729 broad.mit.edu 37 3 197346715 197346715 + RNA SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:197346715C>T ENST00000418868.1 - 0 729 NR_003266.2 TCAGGAGATCCAAGGCAAAAT 0.423000 5 38 0 0 0.014758 0 0 C15orf52 388115 broad.mit.edu 37 15 40627456 40627456 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:40627456G>C ENST00000397536.2 - 7 913 c.878C>G c.(877-879)cCg>cGg p.P293R C15orf52_ENST00000559313.1_Missense_Mutation_p.P503R Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 503 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CCGGCTTCTCGGGGCCAGGCC 0.667000 5 127 0 0 0.014758 0 0 MAEA 10296 broad.mit.edu 37 4 1326563 1326563 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:1326563C>A ENST00000303400.4 + 6 738 c.675C>A c.(673-675)ttC>ttA p.F225L MAEA_ENST00000510794.1_Missense_Mutation_p.F224L|MAEA_ENST00000505839.1_Missense_Mutation_p.F177L|MAEA_ENST00000264750.6_Missense_Mutation_p.F184L|MAEA_ENST00000452175.2_Missense_Mutation_p.F146L|MAEA_ENST00000505177.2_Missense_Mutation_p.F263L|MAEA_ENST00000514708.1_Missense_Mutation_p.Q159K|MAEA_ENST00000512289.1_3'UTR NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 225 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) GAAAGCACTTCAGCCAAGCAG 0.517000 10 26 3.07112e-06 3.16307e-06 0.080935 1 0 ANO2 57101 broad.mit.edu 37 12 6031929 6031929 + Nonsense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:6031929G>A ENST00000546188.1 - 2 123 c.52C>T c.(52-54)Cag>Tag p.Q18* ANO2_ENST00000327087.8_Nonsense_Mutation_p.Q18*|ANO2_ENST00000356134.5_Nonsense_Mutation_p.Q18* Q9NQ90 ANO2_HUMAN anoctamin 2 22 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GACCCTGCCTGAGGGCTCAGC 0.622000 10 18 0 0 0.093190 0 0 AFF1 4299 broad.mit.edu 37 4 88047256 88047256 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:88047256C>T ENST00000307808.6 + 13 2978 c.2558C>T c.(2557-2559)tCc>tTc p.S853F AFF1_ENST00000544085.1_Missense_Mutation_p.S491F|AFF1_ENST00000395146.4_Missense_Mutation_p.S860F NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 853 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCAGGCCCTCCAGGCCCTCC 0.537000 50 69 0 0 0.139131 0 0 GSTK1 373156 broad.mit.edu 37 7 142965251 142965251 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:142965251G>A ENST00000479303.1 + 6 831 c.773G>A c.(772-774)cGg>cAg p.R258Q GSTK1_ENST00000409500.3_Missense_Mutation_p.R190Q|GSTK1_ENST00000358406.5_Missense_Mutation_p.R202Q|GSTK1_ENST00000443571.2_Missense_Mutation_p.R159Q|AC073342.12_ENST00000427392.1_RNA NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 202 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) GGCTCTGACCGGATGGAGCTG 0.552000 5 325 0 0 0.014758 0 0 SETD5 55209 broad.mit.edu 37 3 9476528 9476528 + Missense_Mutation SNP T T G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:9476528T>G ENST00000402466.1 + 6 785 c.17T>G c.(16-18)gTt>gGt p.V6G SETD5_ENST00000407969.1_Missense_Mutation_p.V136G|SETD5_ENST00000302463.6_Missense_Mutation_p.V6G|SETD5_ENST00000406341.1_Missense_Mutation_p.V117G|SETD5_ENST00000402198.1_Missense_Mutation_p.V117G Q9C0A6 SETD5_HUMAN SET domain containing 5 117 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGGGGGAAGGTTATTAGACTT 0.438000 9 31 0 0 0.093190 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122141 18122141 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr6:18122141C>G ENST00000340650.3 - 1 710 c.697G>C c.(697-699)Gat>Cat p.D233H NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 233 D -> A (in EPM2). proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) GCCTCCGCATCAGTTACCACA 0.542000 12 38 0 0 0.132662 0 0 PLEC 5339 broad.mit.edu 37 8 144992204 144992204 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr8:144992204G>A ENST00000322810.4 - 32 12365 c.12196C>T c.(12196-12198)Ctg>Ttg p.L4066L PLEC_ENST00000527096.1_Silent_p.L3952L|PLEC_ENST00000354958.2_Silent_p.L3907L|PLEC_ENST00000436759.2_Silent_p.L3956L|PLEC_ENST00000357649.2_Silent_p.L3933L|PLEC_ENST00000345136.3_Silent_p.L3929L|PLEC_ENST00000354589.3_Silent_p.L3929L|PLEC_ENST00000398774.2_Silent_p.L3897L|PLEC_ENST00000356346.3_Silent_p.L3915L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4066 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGCCTTCCAGGAACTTCTGC 0.642000 7 8 0 0 0.038147 0 0 DMXL1 1657 broad.mit.edu 37 5 118533530 118533530 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:118533530G>A ENST00000311085.8 + 32 7704 c.7624G>A c.(7624-7626)Gaa>Aaa p.E2542K DMXL1_ENST00000539542.1_Missense_Mutation_p.E2542K NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2542 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCGACGACTTGAAATCCATGG 0.443000 73 73 0 0 0.139131 0 0 FRAS1 80144 broad.mit.edu 37 4 79403092 79403092 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:79403092G>A ENST00000264895.6 + 57 9018 c.8578G>A c.(8578-8580)Gaa>Aaa p.E2860K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2855 Calx-beta 3. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCGGAAGGTGGAATTTGGGCC 0.522000 49 43 0 0 0.139131 0 0 TPR 7175 broad.mit.edu 37 1 186327736 186327736 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:186327736G>A ENST00000367478.3 - 13 1732 c.1436C>T c.(1435-1437)tCa>tTa p.S479L TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 479 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.S480*(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AAGTACAGATGATTGCTTGTT 0.318000 T NTRK1 papillary thyroid 28 75 0 0 0.163468 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 6 82 0 0 0.029380 0 0 C20orf112 140688 broad.mit.edu 37 20 31062481 31062481 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr20:31062481G>A ENST00000359676.5 - 2 174 c.32C>T c.(31-33)cCg>cTg p.P11L C20orf112_ENST00000375678.3_Missense_Mutation_p.P120L|C20orf112_ENST00000326071.4_Missense_Mutation_p.P11L|C20orf112_ENST00000375677.1_Missense_Mutation_p.P33L|C20orf112_ENST00000475781.1_5'UTR NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 11 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 GGCCAGGTGCGGGTCAGCTGA 0.597000 12 23 0 0 0.093190 0 0 CTSS 1520 broad.mit.edu 37 1 150724480 150724480 + Missense_Mutation SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:150724480G>T ENST00000368985.3 - 5 664 c.404C>A c.(403-405)tCt>tAt p.S135Y CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.S85Y NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 135 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) AGCACCACAAGAACCCTAAAA 0.493000 15 28 6.31663e-08 6.6654e-08 0.132662 1 0 RASAL2 9462 broad.mit.edu 37 1 178433454 178433454 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:178433454G>A ENST00000448150.3 + 15 4079 c.3261G>A c.(3259-3261)gaG>gaA p.E1087E RASAL2_ENST00000462775.1_Silent_p.E957E|RASAL2_ENST00000367649.3_Silent_p.E1098E NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 957 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CCCCAGTAGAGAGGACAGCAG 0.478000 15 23 0 0 0.119110 0 0 CORO6 84940 broad.mit.edu 37 17 27943185 27943185 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:27943185G>A ENST00000345068.5 - 10 1284 c.1071C>T c.(1069-1071)ctC>ctT p.L357L RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Silent_p.L357L|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Silent_p.L357L|CORO6_ENST00000580212.1_Silent_p.L317L|CORO6_ENST00000456796.3_Silent_p.L123L|CORO6_ENST00000388767.3_Silent_p.L357L Q6QEF8 CORO6_HUMAN coronin 6 357 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 CGTCCTGGAAGAGGTCTGACT 0.667000 8 13 0 0 0.038147 0 0 DDX60L 91351 broad.mit.edu 37 4 169383170 169383170 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:169383170C>T ENST00000511577.1 - 5 533 c.286G>A c.(286-288)Gat>Aat p.D96N DDX60L_ENST00000505890.1_Missense_Mutation_p.D96N|DDX60L_ENST00000260184.7_Missense_Mutation_p.D96N Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 96 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TCAGGAAAATCAAAATATGCA 0.348000 7 10 0 0 0.029380 0 0 LRRC3 81543 broad.mit.edu 37 21 45876816 45876816 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr21:45876816C>T ENST00000291592.4 + 2 606 c.289C>T c.(289-291)Cac>Tac p.H97Y NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 97 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) GGATCTGTCTCACAACGCCAT 0.662000 23 46 0 0 0.083992 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436363 72436363 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:72436363G>A ENST00000392627.1 + 2 1709 c.583G>A c.(583-585)Ggg>Agg p.G195R GPRC5C_ENST00000392629.2_Missense_Mutation_p.G162R|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 150 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GAAGAACCACGGGCCCCGGGG 0.597000 4 101 0 0 0.150653 0 0 ANK3 288 broad.mit.edu 37 10 61829440 61829440 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61829440C>T ENST00000280772.1 - 37 11390 c.11199G>A c.(11197-11199)atG>atA p.M3733I ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3733 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTCTTTCTTCATGGTCATGG 0.428000 106 151 0 0 0.139131 0 0 B2M 567 broad.mit.edu 37 15 45003747 45003747 + Translation_Start_Site SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:45003747G>T ENST00000558401.1 + 1 73 c.3G>T c.(1-3)atG>atT p.M1I B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1I(1)|p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GGGCCGAGATGTCTCGCTCCG 0.612000 20 17 1.96895e-08 2.09049e-08 0.076483 1 0 COL5A1 1289 broad.mit.edu 37 9 137734077 137734077 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:137734077C>T ENST00000371817.3 + 66 5859 c.5445C>T c.(5443-5445)atC>atT p.I1815I NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1815 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGTGGACATCATGTTCAATG 0.582000 14 25 0 0 0.119110 0 0 ANK3 288 broad.mit.edu 37 10 61830234 61830234 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61830234C>T ENST00000280772.1 - 37 10596 c.10405G>A c.(10405-10407)Gag>Aag p.E3469K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3469 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCCCTCCTCCTCGATAACT 0.448000 28 51 0 0 0.125774 0 0 C10orf76 79591 broad.mit.edu 37 10 103799781 103799781 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:103799781C>G ENST00000370033.4 - 2 210 c.91G>C c.(91-93)Gag>Cag p.E31Q C10orf76_ENST00000311122.5_Missense_Mutation_p.E31Q NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 31 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATGAAGATCTCATCATACATC 0.458000 67 129 0 0 0.139131 0 0 POLD3 10714 broad.mit.edu 37 11 74340350 74340350 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:74340350G>C ENST00000263681.2 + 9 1117 c.988G>C c.(988-990)Gat>Cat p.D330H POLD3_ENST00000532497.1_Missense_Mutation_p.D224H|POLD3_ENST00000527458.1_Missense_Mutation_p.D291H NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 330 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) TCCTGAATCTGATAGCAGTGA 0.398000 40 41 0 0 0.086207 0 0 AFF1 4299 broad.mit.edu 37 4 88047277 88047277 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:88047277C>T ENST00000307808.6 + 13 2999 c.2579C>T c.(2578-2580)tCa>tTa p.S860L AFF1_ENST00000544085.1_Missense_Mutation_p.S498L|AFF1_ENST00000395146.4_Missense_Mutation_p.S867L NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 860 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCACAGTCCTCAAAGAAGGAA 0.552000 41 59 0 0 0.086207 0 0 COX17 10063 broad.mit.edu 37 3 119396148 119396148 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:119396148G>C ENST00000261070.2 - 1 102 c.10C>G c.(10-12)Ctg>Gtg p.L4V COX17_ENST00000497116.1_Missense_Mutation_p.L4V|COX17_ENST00000484810.1_Missense_Mutation_p.L4V NM_005694.1 NP_005685.1 Q14061 COX17_HUMAN COX17 cytochrome c oxidase copper chaperone 4 Ala/Pro-rich. copper ion transport|generation of precursor metabolites and energy mitochondrial intermembrane space copper chaperone activity central_nervous_system(1)|kidney(1)|large_intestine(1) 3 GBM - Glioblastoma multiforme(114;0.227) GAGTCAACCAGACCCGGCATC 0.617000 6 21 0 0 0.038147 0 0 MPP1 4354 broad.mit.edu 37 X 154033630 154033630 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chrX:154033630C>T ENST00000369534.3 - 1 166 c.19G>A c.(19-21)Gag>Aag p.E7K MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K NM_001166460.1|NM_001166461.1|NM_002436.3 NP_001159932.1|NP_001159933.1|NP_002427.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 7 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCTCGCCCTCGCTCGCCTTG 0.662000 5 2 0 0 0.014758 0 0 DNAJA1 3301 broad.mit.edu 37 9 33030454 33030454 + Silent SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:33030454A>G ENST00000330899.4 + 5 615 c.432A>G c.(430-432)aaA>aaG p.K144K DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 144 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) GAGGTAAGAAAGGAGCAGTAG 0.353000 11 8 0 0 0.105934 0 0 ZNF512B 57473 broad.mit.edu 37 20 62598782 62598782 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr20:62598782C>T ENST00000450537.1 - 3 276 c.216G>A c.(214-216)aaG>aaA p.K72K ZNF512B_ENST00000369888.1_Silent_p.K72K|ZNF512B_ENST00000217130.3_Silent_p.K72K Q96KM6 Z512B_HUMAN zinc finger protein 512B 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GCCCCTTTTTCTTCCCTTCTG 0.632000 58 85 0 0 0.139131 0 0 EZH1 2145 broad.mit.edu 37 17 40870631 40870631 + Nonsense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:40870631G>A ENST00000428826.2 - 9 893 c.772C>T c.(772-774)Cga>Tga p.R258* EZH1_ENST00000592743.1_Nonsense_Mutation_p.R258*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.R119*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R249*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R188*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R218* Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 258 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GTTAGTTCTCGATACCTATTT 0.507000 16 36 0 0 0.160694 0 0 SLC35B3 51000 broad.mit.edu 37 6 8421006 8421006 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr6:8421006C>T ENST00000379660.4 - 6 1079 c.630G>A c.(628-630)ctG>ctA p.L210L SLC35B3_ENST00000339306.5_Silent_p.L210L NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 210 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) TAAACCATATCAGGCCAAGGC 0.388000 37 111 0 0 0.124865 0 0 ANK3 288 broad.mit.edu 37 10 61829289 61829289 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61829289C>G ENST00000280772.1 - 37 11541 c.11350G>C c.(11350-11352)Gat>Cat p.D3784H ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3784 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAAAGTTATCTTTTTGAAAA 0.343000 64 96 0 0 0.139131 0 0 SLX4 84464 broad.mit.edu 37 16 3639417 3639417 + Nonsense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr16:3639417G>A ENST00000294008.3 - 12 4862 c.4222C>T c.(4222-4224)Cag>Tag p.Q1408* NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1408 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTGTTGGCCTGATGGGAGGCC 0.607000 Direct reversal of damage 49 62 0 0 0.139131 0 0 NRCAM 4897 broad.mit.edu 37 7 107880487 107880487 + Missense_Mutation SNP T T C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:107880487T>C ENST00000379028.3 - 4 492 c.22A>G c.(22-24)Aaa>Gaa p.K8E NRCAM_ENST00000379024.4_Missense_Mutation_p.K8E|NRCAM_ENST00000413765.2_Missense_Mutation_p.K8E|NRCAM_ENST00000351718.4_Missense_Mutation_p.K8E|NRCAM_ENST00000379022.4_Missense_Mutation_p.K8E|NRCAM_ENST00000425651.2_Missense_Mutation_p.K8E Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 8 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CGCTTCTTTTTCGGCATTATT 0.418000 45 69 0 0 0.139131 0 0 GRM5 2915 broad.mit.edu 37 11 88717906 88717906 + Missense_Mutation SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:88717906G>T ENST00000393294.3 - 4 1231 c.862C>A c.(862-864)Cct>Act p.P288T GRM5_ENST00000393297.1_Intron|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Intron|GRM5_ENST00000418177.2_Intron P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 0 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAAGCTATAGGAGAAAGAAAG 0.303000 3 2 6.4e-05 6.51361e-05 0.115264 1 0 NT5C1B 93034 broad.mit.edu 37 2 18765360 18765360 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:18765360G>A ENST00000304081.4 - 5 985 c.885C>T c.(883-885)ttC>ttT p.F295F NT5C1B_ENST00000359846.2_Silent_p.F355F|NT5C1B_ENST00000600945.1_Silent_p.F355F|NT5C1B-RDH14_ENST00000532967.1_Silent_p.F355F NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATACCTTGACGAAGCGGAACG 0.572000 29 67 0 0 0.153744 0 0 TMEM63A 9725 broad.mit.edu 37 1 226041387 226041387 + Silent SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:226041387G>C ENST00000366835.3 - 19 2010 c.1740C>G c.(1738-1740)ctC>ctG p.L580L NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 580 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GGAAGGTATAGAGGATGAGAC 0.602000 5 5 0 0 0.014758 0 0 KALRN 8997 broad.mit.edu 37 3 124066089 124066089 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:124066089G>A ENST00000360013.3 + 10 1868 c.1741G>A c.(1741-1743)Gat>Aat p.D581N KALRN_ENST00000240874.3_Missense_Mutation_p.D581N|KALRN_ENST00000460856.1_Missense_Mutation_p.D581N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 581 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GAAGAGGCATGATGACTTTGA 0.527000 26 145 0 0 0.153744 0 0 AGO4 192670 broad.mit.edu 37 1 36291577 36291577 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:36291577G>C ENST00000373210.3 + 6 921 c.676G>C c.(676-678)Gag>Cag p.E226Q NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 GTTCATGTGTGAGGTTTTAGA 0.418000 60 91 0 0 0.139131 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110028684 110028684 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:110028684G>A ENST00000369870.3 + 2 148 c.133G>A c.(133-135)Gag>Aag p.E45K NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 45 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) TCTAGGGGCTGAGCTGGAGGA 0.527000 33 43 0 0 0.064281 0 0 CHM 1121 broad.mit.edu 37 X 85211360 85211360 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chrX:85211360C>T ENST00000357749.2 - 8 993 c.964G>A c.(964-966)Gaa>Aaa p.E322K CHM_ENST00000537751.1_Missense_Mutation_p.E174K|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 322 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TTTAAATATTCATAAAATGTG 0.333000 11 3 0 0 0.093190 0 0 LMLN 89782 broad.mit.edu 37 3 197751552 197751552 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:197751552G>A ENST00000330198.4 + 14 1571 c.1549G>A c.(1549-1551)Gaa>Aaa p.E517K LMLN_ENST00000482695.1_Missense_Mutation_p.E502K|LMLN_ENST00000420910.2_Missense_Mutation_p.E554K|LMLN_ENST00000332636.5_Missense_Mutation_p.E465K NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 517 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTATGGCGCTGAAAAGTATGG 0.393000 21 92 0 0 0.055883 0 0 CRELD2 79174 broad.mit.edu 37 22 50319135 50319135 + Silent SNP G G A rs151259822 TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:50319135G>A ENST00000404488.3 + 10 1221 c.1086G>A c.(1084-1086)ggG>ggA p.G362G CRELD2_ENST00000403427.3_Silent_p.G285G|CRELD2_ENST00000407217.3_Silent_p.G281G|CRELD2_ENST00000328268.4_Silent_p.G313G NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 313 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) ATACTCCAGGGAGCTACGTCT 0.507000 18 52 0 0 0.160694 0 0 ACTB 60 broad.mit.edu 37 7 5568921 5568921 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:5568921G>C ENST00000331789.5 - 3 425 c.234C>G c.(232-234)aaC>aaG p.N78K NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 78 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGTCGTCCCAGTTGGTGACGA 0.607000 33 48 0 0 0.183431 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968103 5968103 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:5968103G>C ENST00000399933.3 - 3 2127 c.2128C>G c.(2128-2130)Ctt>Gtt p.L710V KIAA2026_ENST00000381461.2_Missense_Mutation_p.L710V NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 710 Lys-rich. breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTGAATGCAAGAGAATGAAGA 0.308000 3 6 0 0 0.115264 0 0 FGF19 9965 broad.mit.edu 37 11 69514326 69514326 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:69514326C>T ENST00000294312.3 - 3 1120 c.355G>A c.(355-357)Gac>Aac p.D119N NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 119 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) AAAGCACAGTCTTCCTCCGAG 0.567000 10 17 0 0 0.069234 0 0 CELSR1 9620 broad.mit.edu 37 22 46776788 46776788 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:46776788G>C ENST00000262738.3 - 22 7152 c.7153C>G c.(7153-7155)Ccg>Gcg p.P2385A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2385 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTCGGGAGCGGAGCCCCCTCG 0.627000 13 27 0 0 0.119110 0 0 NPY4R 5540 broad.mit.edu 37 10 47087415 47087415 + Missense_Mutation SNP G G A rs147108354 TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:47087415G>A ENST00000374312.1 + 3 1051 c.632G>A c.(631-633)cGc>cAc p.R211H NPY4R_ENST00000395716.1_Missense_Mutation_p.R211H NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GCTCACCACCGCACCATCTAC 0.582000 5 177 0 0 0.021553 0 0 CAMK1 8536 broad.mit.edu 37 3 9801205 9801205 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:9801205C>A ENST00000256460.3 - 10 1056 c.879G>T c.(877-879)caG>caT p.Q293H OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 293 Autoinhibitory domain (By similarity). cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TCTTCTTGATCTGCTCACTCA 0.527000 7 240 5.18039e-06 5.30373e-06 0.038147 1 0 PEX5L 51555 broad.mit.edu 37 3 179597776 179597776 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:179597776G>A ENST00000467460.1 - 5 776 c.446C>T c.(445-447)aCg>aTg p.T149M PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.T147M|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.T114M|PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000476138.1_Missense_Mutation_p.T106M|PEX5L_ENST00000472994.1_Missense_Mutation_p.T90M|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.T125M NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 149 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTCAGCATCCGTGCTGATGAG 0.517000 12 131 0 0 0.105934 0 0 DLGAP1 9229 broad.mit.edu 37 18 3502477 3502477 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr18:3502477C>T ENST00000581527.1 - 12 3264 c.2738G>A c.(2737-2739)aGa>aAa p.R913K DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R913K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R611K|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000584874.1_Intron NM_001242761.1 NP_001229690.1 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 0 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CATACAAAATCTACATTGTTC 0.348000 19 27 0 0 0.055883 0 0 LIFR 3977 broad.mit.edu 37 5 38504091 38504091 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:38504091G>A ENST00000263409.4 - 10 1586 c.1424C>T c.(1423-1425)tCa>tTa p.S475L LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S475L NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 475 Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CTCTTGTACTGAATTAGATTT 0.284000 T PLAG1 salivary adenoma 33 53 0 0 0.069456 0 0 DCDC1 341019 broad.mit.edu 37 11 31125289 31125289 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:31125289C>G ENST00000597505.1 - 12 1778 c.1779G>C c.(1777-1779)ttG>ttC p.L593F DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGTCAAAGGTCAAACCCAAAG 0.373000 26 58 0 0 0.134883 0 0 PPIL2 23759 broad.mit.edu 37 22 22049338 22049338 + Missense_Mutation SNP A A T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:22049338A>T ENST00000406385.1 + 19 1505 c.1445A>T c.(1444-1446)aAg>aTg p.K482M PPIL2_ENST00000398831.3_Missense_Mutation_p.K482M|PPIL2_ENST00000412327.1_Missense_Mutation_p.K482M|PPIL2_ENST00000492445.2_Missense_Mutation_p.K482M|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000335025.7_Missense_Mutation_p.K482M Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 482 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GGCGTGGGCAAGTACATCAAC 0.647000 5 25 0 0 0.014758 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102743916 102743916 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:102743916C>T ENST00000417955.1 - 5 1296 c.1142G>A c.(1141-1143)gGa>gAa p.G381E NAPEPLD_ENST00000455523.2_Missense_Mutation_p.G454E|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.G381E|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.G381E|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.G381E Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 381 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCTTGATTCTCCATGCTTCAA 0.348000 29 59 0 0 0.125774 0 0 FBN1 2200 broad.mit.edu 37 15 48737641 48737641 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:48737641G>C ENST00000316623.5 - 48 6304 c.5849C>G c.(5848-5850)aCa>aGa p.T1950R NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1950 EGF-like 33; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGACCCCACTGTATTAATGCA 0.438000 41 59 0 0 0.111260 0 0 KIAA1598 57698 broad.mit.edu 37 10 118646072 118646072 + Missense_Mutation SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:118646072G>T ENST00000355371.4 - 17 2176 c.1679C>A c.(1678-1680)cCc>cAc p.P560H KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392903.2_Missense_Mutation_p.P560H|KIAA1598_ENST00000260777.10_Silent_p.S455S NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 560 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) AATGCTACTGGGAGGCCTATG 0.373000 26 48 4.7796e-09 5.10616e-09 0.099896 1 0 VSIG10 54621 broad.mit.edu 37 12 118506244 118506244 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:118506244C>G ENST00000359236.5 - 8 1781 c.1505G>C c.(1504-1506)aGa>aCa p.R502T NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 502 integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GGCGGTCACTCTGTGAATGTG 0.468000 37 77 0 0 0.074837 0 0 WDR82 80335 broad.mit.edu 37 3 52292653 52292653 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:52292653C>A ENST00000296490.3 - 8 1092 c.811G>T c.(811-813)Ggt>Tgt p.G271C NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 271 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) ACTTTTATACCGCTCTCTCCA 0.448000 8 48 0.00307968 0.00311591 0.038147 1 0 PAX2 5076 broad.mit.edu 37 10 102568873 102568873 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:102568873G>A ENST00000370296.2 + 8 1418 c.868G>A c.(868-870)Gag>Aag p.E290K PAX2_ENST00000556085.1_Missense_Mutation_p.E266K|PAX2_ENST00000355243.3_Missense_Mutation_p.E267K|PAX2_ENST00000361791.3_Missense_Mutation_p.E267K|PAX2_ENST00000428433.1_Missense_Mutation_p.E290K Q02962 PAX2_HUMAN paired box 2 290 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CCAGGGGAACGAGTACTCCCT 0.587000 40 111 0 0 0.111260 0 0 PGK1 5230 broad.mit.edu 37 X 77380864 77380864 + Silent SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chrX:77380864G>T ENST00000373316.4 + 10 1322 c.1155G>T c.(1153-1155)acG>acT p.T385T PGK1_ENST00000537456.1_Silent_p.T357T|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Silent_p.T249T NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 385 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 AATGGAACACGGAGGATAAAG 0.488000 44 20 4.44712e-29 4.87201e-29 0.139131 1 0 WBSCR17 64409 broad.mit.edu 37 7 70597882 70597882 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:70597882G>A ENST00000333538.5 + 1 728 c.94G>A c.(94-96)Gcg>Acg p.A32T NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 32 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCGGCCCATCGCGGTGCGCAG 0.637000 9 16 0 0 0.069234 0 0 GSTA2 2939 broad.mit.edu 37 6 52615381 52615381 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr6:52615381C>A ENST00000493422.1 - 7 818 c.663G>T c.(661-663)agG>agT p.R221S NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 221 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.R221S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TTTATTAAAACCTGAAAATCT 0.413000 8 101 1.11149e-13 1.20237e-13 0.069234 1 0 CORO6 84940 broad.mit.edu 37 17 27943190 27943190 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:27943190C>G ENST00000345068.5 - 10 1279 c.1066G>C c.(1066-1068)Gac>Cac p.D356H RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Missense_Mutation_p.D356H|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000584969.1_Missense_Mutation_p.D356H|CORO6_ENST00000580212.1_Missense_Mutation_p.D316H|CORO6_ENST00000456796.3_Missense_Mutation_p.D122H|CORO6_ENST00000388767.3_Missense_Mutation_p.D356H Q6QEF8 CORO6_HUMAN coronin 6 356 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 TGGAAGAGGTCTGACTGCGGG 0.677000 7 14 0 0 0.029380 0 0 PRKCQ 5588 broad.mit.edu 37 10 6506278 6506278 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:6506278G>A ENST00000263125.5 - 13 1541 c.1442C>T c.(1441-1443)gCg>gTg p.A481V PRKCQ_ENST00000539722.1_Missense_Mutation_p.A356V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A481V NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 481 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTCTTACGTCGCTCTGGAAAG 0.448000 88 275 0 0 0.139131 0 0 SIMC1 375484 broad.mit.edu 37 5 175740719 175740719 + Missense_Mutation SNP T T C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:175740719T>C ENST00000443967.1 + 7 2110 c.1703T>C c.(1702-1704)cTt>cCt p.L568P SIMC1_ENST00000332772.4_Missense_Mutation_p.L29P|SIMC1_ENST00000341199.6_Missense_Mutation_p.L153P|SIMC1_ENST00000430704.2_Missense_Mutation_p.L153P SUMO-interacting motifs containing 1 GGGCGAGTCCTTTTCCTGCGT 0.488000 4 313 0 0 0.150653 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 63 0 0 0.014758 0 0 ANK3 288 broad.mit.edu 37 10 61831482 61831482 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61831482C>G ENST00000280772.1 - 37 9348 c.9157G>C c.(9157-9159)Gag>Cag p.E3053Q ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3053 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGGCTAAACTCTAAAGAATCA 0.473000 56 82 0 0 0.139131 0 0 ZNF331 55422 broad.mit.edu 37 19 54080933 54080933 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr19:54080933C>T ENST00000253144.9 + 7 2452 c.1119C>T c.(1117-1119)caC>caT p.H373H ZNF331_ENST00000513999.1_Silent_p.H373H|ZNF331_ENST00000449416.1_Silent_p.H373H|ZNF331_ENST00000511593.2_Silent_p.H373H|ZNF331_ENST00000411977.2_Silent_p.H373H|ZNF331_ENST00000511154.1_Silent_p.H373H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000512387.1_Silent_p.H373H NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TCACTCAGCACGAGAGAATCC 0.498000 T ? follicular thyroid adenoma 7 39 0 0 0.038147 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250408 140250408 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:140250408G>A ENST00000398640.2 + 1 1720 c.1720G>A c.(1720-1722)Ggc>Agc p.G574S PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCGCGGGAGGCGCAGTTAA 0.667000 64 73 0 0 0.139131 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183373 11183373 + Missense_Mutation SNP A A T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:11183373A>T ENST00000390675.2 - 1 633 c.562T>A c.(562-564)Ttc>Atc p.F188I PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 188 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GTCAGAGTGAAGGGCACTAAG 0.428000 41 92 0 0 0.104719 0 0 FAM71F1 84691 broad.mit.edu 37 7 128359081 128359081 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:128359081C>G ENST00000315184.5 + 3 684 c.631C>G c.(631-633)Ctt>Gtt p.L211V FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V|FAM71F1_ENST00000469348.1_3'UTR NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 211 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCCTAGGATTCTTGTCACGCA 0.542000 5 105 0 0 0.014758 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625693 74625693 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:74625693C>T ENST00000156626.7 - 2 431 c.232G>A c.(232-234)Gag>Aag p.E78K ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 78 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GGCACTGGCTCTGCATAGATG 0.567000 53 88 0 0 0.139131 0 0 ANK3 288 broad.mit.edu 37 10 61828403 61828403 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61828403C>G ENST00000280772.1 - 37 12427 c.12236G>C c.(12235-12237)aGa>aCa p.R4079T ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4079 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACCAGTCCTTCTACTGCTCCT 0.473000 56 100 0 0 0.139131 0 0 CTSS 1520 broad.mit.edu 37 1 150724458 150724458 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:150724458G>A ENST00000368985.3 - 5 686 c.426C>T c.(424-426)ttC>ttT p.F142F CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.F92F NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 142 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) CCACAGCACTGAAAGCCCAGC 0.478000 15 32 0 0 0.175082 0 0 PCDH7 5099 broad.mit.edu 37 4 30723353 30723353 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr4:30723353C>T ENST00000361762.2 + 1 1317 c.309C>T c.(307-309)ttC>ttT p.F103F PCDH7_ENST00000543491.1_Silent_p.F103F NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 103 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 AGATGATCTTCGACGAGAACG 0.602000 11 10 0 0 0.093190 0 0 PCBP2 5094 broad.mit.edu 37 12 53861083 53861083 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:53861083G>C ENST00000541275.1 + 13 1342 c.793G>C c.(793-795)Gat>Cat p.D265H PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Intron Q15366 PCBP2_HUMAN poly(rC) binding protein 2 269 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 CAGTGGTATGGATACCTCAGT 0.468000 39 60 0 0 0.139131 0 0 GFRA3 2676 broad.mit.edu 37 5 137599972 137599972 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:137599972G>A ENST00000274721.3 - 2 603 c.357C>T c.(355-357)acC>acT p.T119T GFRA3_ENST00000378362.3_Silent_p.T119T NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 119 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CACGGTGAACGGTCCAATAGA 0.552000 25 49 0 0 0.116897 0 0 PLCB3 5331 broad.mit.edu 37 11 64022744 64022744 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:64022744C>T ENST00000540288.1 + 5 529 c.426C>T c.(424-426)atC>atT p.I142I PLCB3_ENST00000279230.6_Silent_p.I142I|PLCB3_ENST00000325234.5_Silent_p.I75I NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 142 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CTATGAACATCCTGGCTCAGA 0.647000 11 22 0 0 0.069234 0 0 ANK3 288 broad.mit.edu 37 10 61831782 61831782 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61831782C>T ENST00000280772.1 - 37 9048 c.8857G>A c.(8857-8859)Gag>Aag p.E2953K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2953 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTGAGCTCTCGCTCCTCCTG 0.468000 24 54 0 0 0.108266 0 0 ICA1 3382 broad.mit.edu 37 7 8196806 8196806 + Silent SNP A A T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:8196806A>T ENST00000402384.3 - 8 1010 c.744T>A c.(742-744)acT>acA p.T248T ICA1_ENST00000396675.3_Silent_p.T248T|ICA1_ENST00000401396.1_Silent_p.T236T|ICA1_ENST00000406470.2_Silent_p.T248T|ICA1_ENST00000407906.1_Silent_p.T248T|ICA1_ENST00000422063.2_Silent_p.T248T|ICA1_ENST00000265577.7_Silent_p.T247T Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 248 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGGCTGCCATAGTGTGAGAAG 0.398000 6 88 0 0 0.029380 0 0 DNAJA4 55466 broad.mit.edu 37 15 78557113 78557113 + Missense_Mutation SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:78557113A>G ENST00000394855.3 + 2 323 c.95A>G c.(94-96)aAg>aGg p.K32R DNAJA4_ENST00000489435.2_Missense_Mutation_p.K32R|DNAJA4_ENST00000394852.3_Missense_Mutation_p.K3R|DNAJA4_ENST00000343789.3_Missense_Mutation_p.K3R NM_018602.3 NP_061072.3 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 3 J. protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 AAGATGGTGAAGGAGACCCAG 0.716000 3 13 0 0 0.115264 0 0 TTN 7273 broad.mit.edu 37 2 179529439 179529439 + Silent SNP G G T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:179529439G>T ENST00000589042.1 - 167 36368 c.36144C>A c.(36142-36144)gtC>gtA p.V12048V TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10196 Ig-like 80. 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) TCTTTTCAGGGACAATTTCTT 0.383000 8 56 1.06961e-07 1.12179e-07 0.038147 1 0 SEMA5B 54437 broad.mit.edu 37 3 122629104 122629104 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:122629104G>A ENST00000357599.3 - 23 3728 c.3342C>T c.(3340-3342)ttC>ttT p.F1114F SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.F1168F NM_001031702.3|NM_001256348.1 NP_001026872.2|NP_001243277.1 Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 1114 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCAATGGGTAGAAGTTGGCTC 0.537000 41 129 0 0 0.117977 0 0 YPEL1 29799 broad.mit.edu 37 22 22057704 22057704 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:22057704G>A ENST00000339468.3 - 4 608 c.225C>T c.(223-225)gcC>gcT p.A75A NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 75 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) AGTAGATGTCGGCAACCGCAT 0.642000 32 70 0 0 0.173368 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 6 140 0 0 0.029380 0 0 CRELD2 79174 broad.mit.edu 37 22 50319169 50319169 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:50319169G>A ENST00000404488.3 + 10 1255 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K CRELD2_ENST00000403427.3_Missense_Mutation_p.E297K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E293K|CRELD2_ENST00000328268.4_Missense_Mutation_p.E325K NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 325 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CGGCTTCGAAGAAACGGAAGA 0.587000 19 43 0 0 0.069288 0 0 ANK3 288 broad.mit.edu 37 10 61831953 61831953 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61831953C>T ENST00000280772.1 - 37 8877 c.8686G>A c.(8686-8688)Gaa>Aaa p.E2896K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2896 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GACATAAATTCATTCTTTTGA 0.353000 20 52 0 0 0.069288 0 0 CCDC42 146849 broad.mit.edu 37 17 8638891 8638891 + Silent SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:8638891C>A ENST00000293845.3 - 5 757 c.531G>T c.(529-531)acG>acT p.T177T CCDC42_ENST00000539522.2_Intron NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 177 Missing (in Ref. 2; AAH29224). kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TGCTCACCAGCGTCTTGTAGC 0.627000 16 20 1.99824e-07 2.08301e-07 0.160694 1 0 CMTR1 23070 broad.mit.edu 37 6 37429416 37429416 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr6:37429416G>A ENST00000373451.4 + 11 1351 c.1187G>A c.(1186-1188)cGg>cAg p.R396Q FTSJD2_ENST00000493656.1_3'UTR NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 396 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 TCCATTGTCCGGACAGGTGAC 0.537000 3 74 0 0 0.150653 0 0 RECK 8434 broad.mit.edu 37 9 36117110 36117110 + Missense_Mutation SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:36117110A>G ENST00000377966.3 + 17 2755 c.2189A>G c.(2188-2190)gAg>gGg p.E730G NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 730 Kazal-like 2. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GACCACATGGAGCACAACAAT 0.453000 5 52 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179529438 179529438 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:179529438G>A ENST00000589042.1 - 167 36369 c.36145C>T c.(36145-36147)Cct>Tct p.P12049S TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10197 Ig-like 80. 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) TTCTTTTCAGGGACAATTTCT 0.383000 9 56 0 0 0.047766 0 0 CIITA 4261 broad.mit.edu 37 16 10995908 10995908 + Silent SNP T T A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr16:10995908T>A ENST00000324288.8 + 7 628 c.495T>A c.(493-495)acT>acA p.T165T CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 165 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGCCCCCCACTGTGGTGACTG 0.647000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 4 127 0 0 0.150653 0 0 APOA5 116519 broad.mit.edu 37 11 116661546 116661546 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr11:116661546C>T ENST00000542499.1 - 4 471 c.399G>A c.(397-399)acG>acA p.T133T APOA5_ENST00000227665.4_Silent_p.T133T NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 133 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TCAGATCCATCGTGTAGGGCT 0.652000 28 17 0 0 0.134883 0 0 ECSCR 641700 broad.mit.edu 37 5 138842247 138842247 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:138842247G>A ENST00000515823.1 - 1 81 c.9C>T c.(7-9)acC>acT p.T3T NM_001077693.2 NP_001071161.1 Q19T08 ECSCR_HUMAN endothelial cell surface expressed chemotaxis and apoptosis regulator 3 angiogenesis|cell differentiation|chemotaxis integral to membrane|plasma membrane TGGCTCCTGCGGTGCCCATGT 0.632000 5 7 0 0 0.029380 0 0 KIF5C 3800 broad.mit.edu 37 2 149838001 149838001 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:149838001G>A ENST00000435030.1 + 14 1863 c.1495G>A c.(1495-1497)Gac>Aac p.D499N KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D404N|KIF5C_ENST00000397413.1_Missense_Mutation_p.D267N O60282 KIF5C_HUMAN kinesin family member 5C 499 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) TGTCAATTATGACCAGAAATC 0.532000 6 7 0 0 0.029380 0 0 ATP5S 27109 broad.mit.edu 37 14 50789270 50789270 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr14:50789270C>T ENST00000245448.6 + 3 886 c.194C>T c.(193-195)gCg>gTg p.A65V ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Missense_Mutation_p.A37V|ATP5S_ENST00000426751.2_Missense_Mutation_p.A65V|ATP5S_ENST00000311459.7_Missense_Mutation_p.A65V NM_001003805.2 NP_001003805.1 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) 65 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) CCTGACAGGGCGGCATCCGAG 0.527000 20 40 0 0 0.062417 0 0 CDKN1B 1027 broad.mit.edu 37 12 12871106 12871106 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:12871106G>A ENST00000228872.4 + 1 1049 c.333G>A c.(331-333)ggG>ggA p.G111G CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Silent_p.G111G NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 111 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) ATGTCAGCGGGAGCCGCCCGG 0.647000 32 42 0 0 0.163468 0 0 PTAR1 375743 broad.mit.edu 37 9 72338300 72338300 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:72338300C>G ENST00000377200.5 - 4 654 c.652G>C c.(652-654)Gaa>Caa p.E218Q PTAR1_ENST00000340434.4_Missense_Mutation_p.E297Q Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 297 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 GTGCTGAATTCAACTTCTTCT 0.408000 59 90 0 0 0.139131 0 0 KIF26B 55083 broad.mit.edu 37 1 245850334 245850334 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:245850334C>G ENST00000366518.4 + 9 3010 c.2906C>G c.(2905-2907)tCt>tGt p.S969C KIF26B_ENST00000407071.2_Missense_Mutation_p.S1350C Q2KJY2 KI26B_HUMAN kinesin family member 26B 1350 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GGAGATGACTCTTTCAACAAA 0.557000 13 19 0 0 0.093190 0 0 DST 667 broad.mit.edu 37 6 56496810 56496810 + Silent SNP G G C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr6:56496810G>C ENST00000370754.5 - 28 3734 c.3735C>G c.(3733-3735)ctC>ctG p.L1245L DST_ENST00000370769.4_Silent_p.L1067L|DST_ENST00000446842.2_Silent_p.L741L|DST_ENST00000370765.6_Silent_p.L741L|DST_ENST00000312431.6_Silent_p.L1067L|DST_ENST00000361203.3_Silent_p.L1067L|DST_ENST00000518935.1_Silent_p.L741L|DST_ENST00000244364.6_Silent_p.L741L|DST_ENST00000370788.2_Silent_p.L1067L|DST_ENST00000421834.2_Silent_p.L1067L Q03001 DYST_HUMAN dystonin 1067 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGAGATGTAGAGATTATAAA 0.348000 17 38 0 0 0.160694 0 0 PTPRD 5789 broad.mit.edu 37 9 8484233 8484233 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:8484233G>A ENST00000381196.4 - 27 3842 c.3299C>T c.(3298-3300)aCg>aTg p.T1100M PTPRD_ENST00000537002.1_Missense_Mutation_p.T686M|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1078M|PTPRD_ENST00000486161.1_Missense_Mutation_p.T689M|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1087M|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1100M|PTPRD_ENST00000355233.5_Missense_Mutation_p.T689M|PTPRD_ENST00000397606.3_Missense_Mutation_p.T679M|PTPRD_ENST00000397611.3_Missense_Mutation_p.T686M|PTPRD_ENST00000397617.3_Missense_Mutation_p.T679M|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1100M NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1100 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGTCTTTGCCGTGACCCTGTG 0.483000 TSP Lung(15;0.13) 24 49 0 0 0.083992 0 0 SLTM 79811 broad.mit.edu 37 15 59172279 59172279 + Silent SNP T T C TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:59172279T>C ENST00000380516.2 - 21 3111 c.3024A>G c.(3022-3024)gtA>gtG p.V1008V SLTM_ENST00000536328.1_Silent_p.V577V NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 1008 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACTGATTTGTACAATTCTAT 0.413000 7 55 0 0 0.029380 0 0 NCK2 8440 broad.mit.edu 37 2 106498358 106498358 + Silent SNP A A G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:106498358A>G ENST00000233154.4 + 4 1243 c.801A>G c.(799-801)ccA>ccG p.P267P NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Silent_p.P267P|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 267 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CGCACGCCCCACAGATAAGCT 0.667000 19 32 0 0 0.055883 0 0 PDE11A 50940 broad.mit.edu 37 2 178592823 178592823 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:178592823G>A ENST00000286063.5 - 11 2183 c.1866C>T c.(1864-1866)gcC>gcT p.A622A PDE11A_ENST00000449286.2_Silent_p.A264A|PDE11A_ENST00000409504.1_Silent_p.A264A|PDE11A_ENST00000358450.4_Silent_p.A372A|PDE11A_ENST00000389683.3_Silent_p.A178A|PDE11A_ENST00000497003.1_5'UTR NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 622 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTGTGATCATGGCATCAACGT 0.443000 Primary Pigmented Nodular Adrenocortical Disease, Familial 23 38 0 0 0.091800 0 0 ANK3 288 broad.mit.edu 37 10 61831830 61831830 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr10:61831830C>T ENST00000280772.1 - 37 9000 c.8809G>A c.(8809-8811)Gaa>Aaa p.E2937K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2937 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGTCCCCTTCTTTCACAACA 0.443000 14 38 0 0 0.105934 0 0 GALR2 8811 broad.mit.edu 37 17 74072818 74072818 + Missense_Mutation SNP C C G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr17:74072818C>G ENST00000329003.3 + 2 560 c.470C>G c.(469-471)tCc>tGc p.S157C NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 157 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 CTGCTCTTCTCCGGGCCCTAC 0.692000 14 35 0 0 0.132662 0 0 RYR2 6262 broad.mit.edu 37 1 237713931 237713931 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:237713931G>A ENST00000366574.2 + 27 3471 c.3154G>A c.(3154-3156)Gag>Aag p.E1052K RYR2_ENST00000542537.1_Missense_Mutation_p.E1036K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1050K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1052 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E1050K(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCCTCCGCGAGGCTGTGCG 0.493000 6 6 0 0 0.029380 0 0 MVB12B 89853 broad.mit.edu 37 9 129157913 129157913 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:129157913C>T ENST00000361171.3 + 6 680 c.599C>T c.(598-600)tCa>tTa p.S200L MVB12B_ENST00000535766.1_Missense_Mutation_p.S193L|MVB12B_ENST00000436593.3_Missense_Mutation_p.S185L|MVB12B_ENST00000545391.1_Missense_Mutation_p.S200L NM_033446.2 NP_258257.1 multivesicular body subunit 12B AATCATGACTCATCTCAACCC 0.532000 57 91 0 0 0.139131 0 0 DENND2A 27147 broad.mit.edu 37 7 140266910 140266910 + Missense_Mutation SNP T T A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:140266910T>A ENST00000275884.6 - 8 2172 c.1755A>T c.(1753-1755)gaA>gaT p.E585D DENND2A_ENST00000496613.1_Missense_Mutation_p.E585D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E585D|DENND2A_ENST00000492720.1_Missense_Mutation_p.E585D Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 585 UDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GTTGGGTGAGTTCTGGCACGT 0.562000 6 5 0 0 0.029380 0 0 ACOT2 10965 broad.mit.edu 37 14 74040259 74040259 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr14:74040259G>A ENST00000238651.5 + 2 993 c.811G>A c.(811-813)Gaa>Aaa p.E271K ACOT2_ENST00000538782.1_Missense_Mutation_p.E74K NM_006821.5 NP_006812.3 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 271 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) GGAGTACTTTGAAGAAGCCAT 0.453000 62 89 0 0 0.139131 0 0 TP53I3 9540 broad.mit.edu 37 2 24302332 24302332 + Silent SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:24302332C>T ENST00000238721.4 - 4 1652 c.798G>A c.(796-798)ctG>ctA p.L266L TP53I3_ENST00000335934.4_Silent_p.L266L|TP53I3_ENST00000313482.4_Intron|TP53I3_ENST00000407482.1_Intron|FAM228B_ENST00000461972.1_Intron NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 266 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTAGACCTCAGCAAACTGG 0.438000 35 90 0 0 0.080422 0 0 LY9 4063 broad.mit.edu 37 1 160771628 160771628 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:160771628G>A ENST00000368039.2 + 3 504 c.503G>A c.(502-504)cGc>cAc p.R168H LY9_ENST00000263285.5_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane p.R168H(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGTGACCACCGCACACTCCTG 0.572000 4 148 0 0 0.150653 0 0 DOK1 1796 broad.mit.edu 37 2 74784055 74784055 + Silent SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:74784055C>A ENST00000233668.5 + 5 1929 c.1260C>A c.(1258-1260)ctC>ctA p.L420L DOK1_ENST00000409429.1_Silent_p.L281L|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 420 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CAAAGCCCCTCCTTGCTCCCA 0.617000 81 147 3.16549e-35 3.49015e-35 0.139131 1 0 KIAA2026 158358 broad.mit.edu 37 9 5968206 5968206 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr9:5968206G>A ENST00000399933.3 - 3 2024 c.2025C>T c.(2023-2025)ctC>ctT p.L675L KIAA2026_ENST00000381461.2_Silent_p.L675L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 675 Lys-rich. breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAGTTAGTTTGAGTTTCTTGT 0.333000 23 41 0 0 0.076483 0 0 CTSS 1520 broad.mit.edu 37 1 150724308 150724308 + Silent SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:150724308G>A ENST00000368985.3 - 5 836 c.576C>T c.(574-576)atC>atT p.I192I CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.I142I NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 192 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TGTTATCAATGATGTACTGGA 0.468000 48 88 0 0 0.139131 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677766 7677766 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr19:7677766G>A ENST00000446248.2 + 13 2569 c.2468G>A c.(2467-2469)aGg>aAg p.R823K CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R796K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 796 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCCTTGACCAGGGTGCTTACG 0.726000 3 8 0 0 0.115264 0 0 SLC12A8 84561 broad.mit.edu 37 3 124839586 124839586 + Silent SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr3:124839586C>A ENST00000430155.2 - 1 112 c.84G>T c.(82-84)ggG>ggT p.G28G SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Intron A0AV02 S12A8_HUMAN solute carrier family 12, member 8 0 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GCATCGCCTTCCCCAGGGCTG 0.637000 8 7 3.09899e-07 3.211e-07 0.047766 1 0 NFATC1 4772 broad.mit.edu 37 18 77208872 77208872 + Nonsense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr18:77208872C>T ENST00000253506.5 + 4 1846 c.1477C>T c.(1477-1479)Cag>Tag p.Q493* NFATC1_ENST00000545796.1_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000397790.2_Nonsense_Mutation_p.Q21*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000318065.5_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000587635.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000592223.1_Nonsense_Mutation_p.Q480*|NFATC1_ENST00000591814.1_Nonsense_Mutation_p.Q493*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.Q480* NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 493 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGCCTTCTACCAGGTGCACCG 0.622000 18 13 0 0 0.175082 0 0 RPE 6120 broad.mit.edu 37 2 210867428 210867428 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:210867428G>A ENST00000359429.6 + 1 140 c.43G>A c.(43-45)Gac>Aac p.D15N RPE_ENST00000454822.1_5'UTR|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000429921.1_5'UTR|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000354506.6_Missense_Mutation_p.D15N|RPE_ENST00000540255.1_Missense_Mutation_p.D15N|RPE_ENST00000435437.2_Missense_Mutation_p.D15N|RPE_ENST00000452025.1_Missense_Mutation_p.D15N|RPE_ENST00000445268.1_5'UTR NM_199229.1 NP_954699.1 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase 15 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 9 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) CCTCAACAGCGACCTGGCCAA 0.617000 16 34 0 0 0.132662 0 0 POT1 25913 broad.mit.edu 37 7 124481048 124481048 + Missense_Mutation SNP C C T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr7:124481048C>T ENST00000357628.3 - 14 1946 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K POT1_ENST00000393329.1_Missense_Mutation_p.E319K NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 450 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 AGTAGACATTCATTTGAAAGC 0.269000 30 77 0 0 0.163468 0 0 UNC5D 137970 broad.mit.edu 37 8 35616853 35616853 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr8:35616853G>A ENST00000287272.2 + 13 1992 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K UNC5D_ENST00000420357.1_Missense_Mutation_p.E660K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E732K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E722K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E727K|UNC5D_ENST00000449677.1_Missense_Mutation_p.E303K Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 727 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGTTTCAGATGAAAGGCATCA 0.378000 37 70 0 0 0.069456 0 0 HERC1 8925 broad.mit.edu 37 15 64026927 64026927 + Missense_Mutation SNP C C A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:64026927C>A ENST00000443617.2 - 13 2729 c.2642G>T c.(2641-2643)gGa>gTa p.G881V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 881 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCCTACCTGTCCTTTAGATAA 0.403000 25 49 7.76418e-22 8.45215e-22 0.108266 1 0 MARCH7 64844 broad.mit.edu 37 2 160615841 160615841 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:160615841G>A ENST00000259050.3 + 7 2010 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K MARCH7_ENST00000409175.1_Missense_Mutation_p.E630K|MARCH7_ENST00000409591.1_Missense_Mutation_p.E592K|MARCH7_ENST00000539065.1_Missense_Mutation_p.E574K NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 630 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TCATGCAAATGAACAAGTTAG 0.353000 38 57 0 0 0.098360 0 0 LOC100288069 100288069 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 3 4 --- --- --- --- ARID5A 10865 broad.mit.edu 37 2 97215191 97215195 + Splice_Site DEL AGCAG AGCAG - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr2:97215191_97215195delAGCAG ENST00000454558.2 + 3 1227_1231 c.55_splice c.e3+1 p.KQ17_splice ARID5A_ENST00000357485.3_Splice_Site_p.KQ85_splice Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 85 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CTCGGCTTCAAGCAGAGTGCGTCCC 0.678 21 54 --- --- --- --- FBLL1 345630 broad.mit.edu 37 5 167956924 167956924 + Frame_Shift_Del DEL G G - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr5:167956924delG ENST00000338333.4 + 1 804 c.415delG c.(415-417)agfs p.E139fs CACGGTGACCGAGGGCGGCGT 0.677 2 4 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110463612 110463618 + Frame_Shift_Del DEL AAAAAAG AAAAAAG - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr12:110463612_110463618delAAAAAAG ENST00000261739.4 + 8 1033_1039 c.867_873delAAAAAAG c.(865-873)gafs p.EKK289fs NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 289 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CCGAGGAGGAAAAAAAGAGATATAAAG 0.406 12 92 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 5 --- --- --- --- SLC1A5 6510 broad.mit.edu 37 19 47282157 47282157 + Frame_Shift_Del DEL G G - TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr19:47282157delG ENST00000542575.2 - 5 1461 c.833delC c.(832-834)ctfs p.P278fs SLC1A5_ENST00000434726.2_Frame_Shift_Del_p.P76fs|SLC1A5_ENST00000412532.2_Frame_Shift_Del_p.P50fs|SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.P102fs NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 278 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) GATGCCCACAGGGGCGTACCT 0.582 15 27 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ee5501e-5463-4481-b798-3d23bfb4f113 9c2c99b3-9669-4bf2-81cc-d82c9611ea2f g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 7 87 --- --- --- ---