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 PMEL 6490 broad.mit.edu 37 12 56351416 56351416 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr12:56351416G>A ENST00000548747.1 - 6 1333 c.671C>T c.(670-672)gCc>gTc p.A224V PMEL_ENST00000552882.1_Missense_Mutation_p.A224V|PMEL_ENST00000536427.1_Missense_Mutation_p.A224V|PMEL_ENST00000539511.1_Missense_Mutation_p.A138V|PMEL_ENST00000449260.2_Missense_Mutation_p.A224V|PMEL_ENST00000360714.4_Missense_Mutation_p.A224V|PMEL_ENST00000548493.1_Missense_Mutation_p.A224V|PMEL_ENST00000550464.1_Missense_Mutation_p.A138V|PMEL_ENST00000550447.1_Intron P40967 PMEL_HUMAN premelanosome protein 224 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCCATCCAAGGCCCGCAACTG 0.577000 79 98 0 0 1 0 0 FBL 2091 broad.mit.edu 37 19 40331067 40331067 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:40331067C>T ENST00000221801.3 - 3 383 c.270G>A c.(268-270)ccG>ccA p.P90P NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 90 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CATGCCGATGCGGCTCCACCA 0.622000 5 535 0 0 1 0 0 LPPR1 0 broad.mit.edu 37 9 104048420 104048420 + Missense_Mutation SNP A A T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:104048420A>T ENST00000374874.3 + 4 726 c.287A>T c.(286-288)aAa>aTa p.K96I LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 96 integral to membrane catalytic activity TATTTCATAAAATCAACAAGA 0.388000 52 149 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 3 15 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 85 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 24 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28956707 28956707 + Missense_Mutation SNP T T C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr8:28956707T>C ENST00000524189.1 - 36 4305 c.4267A>G c.(4267-4269)Ata>Gta p.I1423V KIF13B_ENST00000404075.3_5'UTR NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1423 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GCAGGAGCTATTCCTCTGGAA 0.428000 137 80 0 0 1 0 0 GPR6 0 broad.mit.edu 37 6 110300977 110300977 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr6:110300977C>T ENST00000414000.2 + 3 946 c.707C>T c.(706-708)cCg>cTg p.P236L GPR6_ENST00000275169.3_Missense_Mutation_p.P221L P46095 GPR6_HUMAN G protein-coupled receptor 6 221 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GTGGTGCGCCCGCTGGCGCGC 0.697000 13 16 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53859939 53859939 + Missense_Mutation SNP G G A rs139577103 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr16:53859939G>A ENST00000471389.1 + 3 509 c.287G>A c.(286-288)cGc>cAc p.R96H FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 96 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CCGGTATCTCGCATCCTCATT 0.498000 4 148 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51192618 51192618 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:51192618G>A ENST00000391813.1 - 1 43 c.44C>T c.(43-45)cCg>cTg p.P15L SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1193 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCCCCACCCGGCAACCCAGA 0.572000 10 31 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71709086 71709086 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:71709086G>A ENST00000258104.3 + 3 499 c.222G>A c.(220-222)acG>acA p.T74T DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 74 C2 1. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACCATGAGACGATGGGGAGGA 0.552000 22 24 0 0 1 0 0 ZMYND19 116225 broad.mit.edu 37 9 140477531 140477531 + Silent SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:140477531C>G ENST00000298585.2 - 5 670 c.444G>C c.(442-444)cgG>cgC p.R148R NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 148 Golgi apparatus|plasma membrane zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CATTATAATACCGGGTCACAT 0.478000 202 298 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570231 62570231 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:62570231G>A ENST00000374884.2 - 1 992 c.414C>T c.(412-414)taC>taT p.Y138Y SPIN4_ENST00000335144.3_Silent_p.Y156Y|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 156 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 GATCTTTCTCGTAGGTGATGT 0.448000 6 234 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265131 25265131 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr13:25265131G>A ENST00000218548.6 + 8 1162 c.829G>A c.(829-831)Ggc>Agc p.G277S ATP12A_ENST00000381946.3_Missense_Mutation_p.G271S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 271 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CACTGTCACCGGCATGGTTAT 0.562000 4 252 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 47000104 47000104 + Missense_Mutation SNP G G C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr10:47000104G>C ENST00000374314.4 + 1 2179 c.1224G>C c.(1222-1224)caG>caC p.Q408H GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q408H O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 408 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TGGCCATCCAGAAGCACCTGG 0.672000 4 39 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147830775 147830775 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:147830775G>A ENST00000354217.2 - 7 1300 c.1137C>T c.(1135-1137)gaC>gaT p.D379D HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.D379D|HTR4_ENST00000314512.6_3'UTR Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGGATTCTGGGTCATTGTGTA 0.473000 82 136 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31124942 31124942 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr7:31124942G>A ENST00000304166.4 + 9 843 c.554G>A c.(553-555)cGc>cAc p.R185H ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 185 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CACTGCACACGCAACTTCATC 0.542000 5 407 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183273417 183273417 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr3:183273417C>T ENST00000341319.3 - 1 60 c.25G>A c.(25-27)Gcc>Acc p.A9T NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 9 p.A9T(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ATGGTCCAGGCGCCCCTTTGT 0.587000 131 129 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284293 100284293 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr7:100284293G>A ENST00000275732.5 - 7 1882 c.673C>T c.(673-675)Cgc>Tgc p.R225C GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 225 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GAGCGCCAGCGGTCGCCGTCT 0.687000 56 212 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1248558 1248558 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr11:1248558C>T ENST00000447027.1 + 6 655 c.597C>T c.(595-597)taC>taT p.Y199Y MUC5B_ENST00000529681.1_Silent_p.Y199Y Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 199 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATCCCAAATACGCCAACCAGA 0.637000 9 19 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119677613 119677613 + Nonsense_Mutation SNP T T A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:119677613T>A ENST00000371322.5 - 8 1286 c.1225A>T c.(1225-1227)Aga>Tga p.R409* CUL4B_ENST00000404115.3_Nonsense_Mutation_p.R427*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414* NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 427 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTAATAAGTCTGTCTGCTTCT 0.353000 82 102 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20110916 20110916 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr8:20110916G>A ENST00000381569.1 - 3 883 c.526C>T c.(526-528)Cgg>Tgg p.R176W LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 176 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ATGGAGTTCCGGCCGGAGTCT 0.672000 4 67 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19737465 19737465 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:19737465C>T ENST00000542587.1 - 5 1531 c.629G>A c.(628-630)cGc>cAc p.R210H LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 210 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GAAGAAAATGCGGGTGTACAC 0.622000 24 120 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18429670 18429670 + Missense_Mutation SNP C C A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr20:18429670C>A ENST00000357236.4 - 8 904 c.245G>T c.(244-246)aGc>aTc p.S82I DZANK1_ENST00000262547.5_Missense_Mutation_p.S196I|DZANK1_ENST00000377630.5_Missense_Mutation_p.S23I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198I Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 23 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 TATCTCCGTGCTTGTCAAACA 0.368000 4 195 1 1 1 1 0 HTR6 3362 broad.mit.edu 37 1 19992358 19992358 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr1:19992358G>A ENST00000289753.1 + 1 579 c.112G>A c.(112-114)Gcg>Acg p.A38T NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 38 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGTGGTCATCGCGCTGACGGC 0.731000 14 11 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37107434 37107434 + Splice_Site SNP C C A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr3:37107434C>A ENST00000421307.1 - 24 1989 c.e24-1 LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000396428.2_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site|LRRFIP2_ENST00000336686.4_Splice_Site NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 AGCCATGTTTCTGCAGGGGGG 0.493000 84 81 2.00703e-41 2.15491e-41 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520509 33520509 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:33520509G>A ENST00000297307.5 - 1 903 c.818C>T c.(817-819)gCg>gTg p.A273V NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 273 DUF6 2. integral to membrane CTTGGTGACCGCATAGCCCAC 0.592000 5 267 0 0 1 0 0 EPHX4 253152 broad.mit.edu 37 1 92528675 92528675 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr1:92528675C>T ENST00000370383.4 + 7 1019 c.921C>T c.(919-921)gaC>gaT p.D307D NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 307 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 GAGAGAATGACGCATTCATGG 0.418000 21 270 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35615999 35615999 + Missense_Mutation SNP T T C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:35615999T>C ENST00000396757.1 - 6 793 c.629A>G c.(628-630)gAg>gGg p.E210G CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E210G P21854 CD72_HUMAN CD72 molecule 210 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGCTTCTGCTCCAAGGCCCT 0.582000 120 137 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115818156 115818156 + Nonsense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:115818156G>A ENST00000343348.6 - 11 1865 c.1078C>T c.(1078-1080)Cga>Tga p.R360* CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 360 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TTAGGAACTCGTTCATCAGGA 0.423000 20 24 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129649474 129649474 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr6:129649474C>T ENST00000421865.2 + 29 4277 c.4228C>T c.(4228-4230)Cct>Tct p.P1410S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1410 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGCCGCACCCCTGGACCAAC 0.507000 14 237 0 0 1 0 0 JAGN1 84522 broad.mit.edu 37 3 9934907 9934907 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr3:9934907G>A ENST00000307768.4 + 2 567 c.398G>A c.(397-399)gGc>gAc p.G133D NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 133 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) TACCGCCATGGCAAGGCCTAC 0.527000 4 261 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105937249 105937249 + Missense_Mutation SNP G G T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:105937249G>T ENST00000324342.3 + 1 182 c.17G>T c.(16-18)aGg>aTg p.R6M NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CAGGAGAATAGGTCCAGTTTT 0.348000 15 135 2.48551e-13 2.61362e-13 1 1 0 ROR1 4919 broad.mit.edu 37 1 64644134 64644134 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr1:64644134G>A ENST00000371079.1 + 9 2785 c.2410G>A c.(2410-2412)Ggt>Agt p.G804S ROR1_ENST00000545203.1_Missense_Mutation_p.G255S NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 804 Pro-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCAGATTGCTGGTTTCATTGG 0.512000 10 178 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:86839366C>T ENST00000237455.4 - 3 1366 c.398G>A c.(397-399)gGc>gAc p.G133D AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 133 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GTGAATTTTGCCCACCAAGGG 0.388000 4 205 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73399070 73399070 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:73399070G>A ENST00000377110.2 - 7 1342 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R367W NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 392 integral to membrane calcium channel activity p.R239W(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TCCGATGCCCGTCCACTCCCA 0.532000 69 83 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140012294 140012294 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:140012294C>T ENST00000302014.6 - 2 904 c.275G>A c.(274-276)cGg>cAg p.R92Q CD14_ENST00000401743.2_Missense_Mutation_p.R92Q NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 92 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGAGCCGCCGCACGCGGAG 0.647000 18 71 0 0 1 0 0 AAK1 22848 broad.mit.edu 37 2 69769714 69769714 + Missense_Mutation SNP A A T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:69769714A>T ENST00000409085.4 - 5 851 c.475T>A c.(475-477)Tgt>Agt p.C159S AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000406297.3_Missense_Mutation_p.C159S NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 159 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 ACAGCTTCACAGGTATCACAA 0.493000 4 192 0 0 1 0 0 IL2 3558 broad.mit.edu 37 4 123372928 123372928 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr4:123372928G>A ENST00000226730.4 - 4 725 c.441C>T c.(439-441)agC>agT p.S147S NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 147 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TTGAGATGATGCTTTGACAAA 0.303000 T TNFRSF17 intestinal T-cell lymphoma 17 61 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82337427 82337427 + Missense_Mutation SNP A A G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:82337427A>G ENST00000376520.4 + 19 2972 c.2144A>G c.(2143-2145)aAt>aGt p.N715S TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376552.2_Missense_Mutation_p.N683S|TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S|TLE4_ENST00000376534.4_Missense_Mutation_p.N320S O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GAGAACAGCAATGTGGAAGTT 0.483000 28 65 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576343 33576343 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:33576343G>A ENST00000504830.1 - 19 4123 c.3788C>T c.(3787-3789)aCg>aTg p.T1263M ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1263 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T1263M(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACGGTTTGCCGTCTTTCCTGA 0.502000 HNSCC(64;0.19) 161 211 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237891 140237891 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:140237891G>A ENST00000307360.5 + 1 2258 c.2258G>A c.(2257-2259)cGg>cAg p.R753Q PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.672000 22 29 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858274 101858274 + Missense_Mutation SNP C C A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:101858274C>A ENST00000604957.1 + 1 3827 c.1205C>A c.(1204-1206)tCt>tAt p.S402Y RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 402 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GGCATAATCTCTTGCCCCTTG 0.423000 15 195 1.37285e-15 1.45866e-15 1 1 0 RFX3 5991 broad.mit.edu 37 9 3257179 3257179 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:3257179G>A ENST00000382004.3 - 15 1937 c.1626C>T c.(1624-1626)tgC>tgT p.C542C RFX3_ENST00000302303.1_Silent_p.C542C|RFX3_ENST00000358730.2_Silent_p.C542C NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 542 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CATCACACTGGCACACCCAGG 0.483000 4 126 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417287 105417287 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr14:105417287G>A ENST00000333244.5 - 7 4620 c.4501C>T c.(4501-4503)Ccg>Tcg p.P1501S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1501 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGAACGACGGCATCTTGAAC 0.602000 5 612 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130341194 130341194 + Missense_Mutation SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr11:130341194C>G ENST00000299164.2 + 7 1994 c.1994C>G c.(1993-1995)tCc>tGc p.S665C NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 665 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AACCTGGGCTCCAAGAAGAGA 0.577000 36 33 0 0 1 0 0 IER3 8870 broad.mit.edu 37 6 30712191 30712191 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr6:30712191G>A ENST00000376377.2 - 1 134 c.105C>T c.(103-105)atC>atT p.I35I IER3_ENST00000259874.5_Silent_p.I35I P46695 IEX1_HUMAN immediate early response 3 35 anatomical structure morphogenesis|anti-apoptosis|apoptosis integral to membrane protein binding NS(1) 1 CGAAGGTGAAGATCTCAGGAC 0.736000 4 13 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61957710 61957710 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:61957710G>A ENST00000423893.2 - 5 686 c.625C>T c.(625-627)Cgc>Tgc p.R209C GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000456543.2_Silent_p.A207A P01242 SOM2_HUMAN growth hormone 2 209 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TCCACAGAGCGGCACTGCACG 0.607000 24 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650719 179650719 + Silent SNP G G A rs151025677 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:179650719G>A ENST00000589042.1 - 14 2450 c.2226C>T c.(2224-2226)tcC>tcT p.S742S TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000591111.1_Silent_p.S742S|TTN_ENST00000342175.6_Silent_p.S696S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 742 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S696S(3)|p.S742S(2) 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) CCTTTGCGGCGGAAATGCGTT 0.547000 20 152 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717979 142717979 + Missense_Mutation SNP C C T rs142699085 byFrequency TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:142717979C>T ENST00000381779.4 - 2 1171 c.946G>A c.(946-948)Gtt>Att p.V316I SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 316 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTGCCTGCAACGATTCCAGAG 0.473000 112 197 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73320715 73320715 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr13:73320715C>T ENST00000390667.5 + 10 1045 c.948C>T c.(946-948)atC>atT p.I316I BORA_ENST00000377815.3_Silent_p.I246I NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 316 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATCCGTGTATCAGAAGTCCTT 0.398000 7 206 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61649048 61649048 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr18:61649048G>A ENST00000397985.2 + 4 656 c.400G>A c.(400-402)Gac>Aac p.D134N SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000542677.1_5'UTR NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 134 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) GCATATAAATGACTGGGTGGC 0.438000 50 189 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182153 57182153 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr11:57182153G>A ENST00000395123.2 - 11 1299 c.995C>T c.(994-996)gCc>gTc p.A332V SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 332 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 ATTCCAGGGGGCACACAGCAC 0.542000 5 284 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648839 75648839 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:75648839G>A ENST00000361470.2 + 1 794 c.516G>A c.(514-516)acG>acA p.T172T NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 172 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GTGAGGGAACGAGCACCTCCG 0.682000 40 47 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159394 18159394 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr11:18159394C>T ENST00000396275.2 + 3 1006 c.645C>T c.(643-645)taC>taT p.Y215Y NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 215 integral to membrane|plasma membrane G-protein coupled receptor activity p.Y215Y(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCAGGCTGTACGTGACCATCC 0.562000 39 30 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35835785 35835785 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:35835785G>A ENST00000085219.5 + 10 2155 c.2089G>A c.(2089-2091)Gcc>Acc p.A697T CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000419549.2_Missense_Mutation_p.A525T NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 697 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GTCCTGCCTCGCCATCCTCAT 0.627000 132 200 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110875 106110875 + RNA SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr14:106110875C>T ENST00000390545.2 - 0 252 TTGTGATCTACGTTGCAGGTG 0.612000 110 106 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14865794 14865794 + Missense_Mutation SNP G G A rs146763976 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:14865794G>A ENST00000315576.3 - 14 2013 c.1562C>T c.(1561-1563)gCc>gTc p.A521V EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000392964.3_Silent_p.C185C NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 521 GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.A521V(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CATGAGGACGGCAAAGCTGCT 0.572000 4 189 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644511 53644511 + Missense_Mutation SNP G G C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:53644511G>C ENST00000452676.2 - 5 1999 c.1573C>G c.(1573-1575)Caa>Gaa p.Q525E ZNF347_ENST00000334197.7_Missense_Mutation_p.Q524E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGTGAATTTTGAGTGAAGACC 0.408000 11 428 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130963555 130963555 + Nonsense_Mutation SNP G G A rs138967663 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr12:130963555G>A ENST00000261655.4 - 3 167 c.4C>T c.(4-6)Cga>Tga p.R2* RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 2 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCCGCCTCTCGCATATGCTGT 0.617000 39 39 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6302235 6302235 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr8:6302235G>A ENST00000344683.5 + 8 1068 c.992G>A c.(991-993)cGt>cAt p.R331H MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H|MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 331 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GAGAAGTATCGTTTGTCTCCT 0.418000 42 23 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82474624 82474624 + Missense_Mutation SNP G G C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr7:82474624G>C ENST00000423517.2 - 13 14346 c.14009C>G c.(14008-14010)tCc>tGc p.S4670C PCLO_ENST00000333891.8_Missense_Mutation_p.S4670C|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4558 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACTGAGGGGGACCCTGGTTG 0.502000 32 72 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740480 50740480 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr6:50740480C>T ENST00000008391.3 + 8 1490 c.1262C>T c.(1261-1263)gCg>gTg p.A421V NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 421 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GGCGGAGCGGCGGATTCTGGC 0.498000 43 49 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824890 176824890 + Missense_Mutation SNP C C T rs148272921 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:176824890C>T ENST00000324417.5 + 13 1614 c.1523C>T c.(1522-1524)aCg>aTg p.T508M SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 508 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGAAACGCACGGCCAAGTAC 0.597000 62 94 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622800 74622800 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:74622800G>A ENST00000156626.7 - 5 1443 c.1244C>T c.(1243-1245)gCc>gTc p.A415V 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 1 415 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 CAGGGAGAAGGCGGTAAAGCC 0.537000 268 334 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128608864 128608864 + Missense_Mutation SNP T T G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr4:128608864T>G ENST00000335251.5 + 8 1394 c.1291T>G c.(1291-1293)Ttg>Gtg p.L431V NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 431 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TGTTCCTCGTTTGGATCATTT 0.443000 10 310 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179196082 179196082 + Missense_Mutation SNP G G A rs144664410 by1000genomes TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:179196082G>A ENST00000292599.3 + 3 2226 c.1963G>A c.(1963-1965)Gcg>Acg p.A655T MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 655 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCACCTTCTCGCGGAACAGGT 0.512000 21 114 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1827422 1827422 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:1827422G>A ENST00000170168.4 - 2 1460 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 456 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCGGCCGCCGCGCTGGCCGG 0.736000 3 20 0 0 1 0 0 ATIC 471 broad.mit.edu 37 2 216198162 216198162 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:216198162G>A ENST00000435675.1 + 8 1292 c.901G>A c.(901-903)Gca>Aca p.A301T ATIC_ENST00000540518.1_Missense_Mutation_p.A243T|ATIC_ENST00000236959.9_Missense_Mutation_p.A302T P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 302 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CATCTCAGCGGCATATGCAAG 0.403000 T ALK ALCL 4 176 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17718610 17718610 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:17718610C>T ENST00000355815.4 - 14 2676 c.2507G>A c.(2506-2508)cGg>cAg p.R836Q SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000261646.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 806 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GAGATGTTCCCGGAATAGCTG 0.617000 56 75 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 91 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52695806 52695806 + Missense_Mutation SNP T T A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr12:52695806T>A ENST00000293525.5 + 1 158 c.106T>A c.(106-108)Tcc>Acc p.S36T KRT86_ENST00000423955.2_Missense_Mutation_p.S36T|KRT86_ENST00000544024.1_Missense_Mutation_p.S36T NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 36 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) CCGTGGCATCTCCTGCTACCG 0.726000 39 47 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38907516 38907516 + Silent SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:38907516G>A ENST00000312150.4 - 4 792 c.732C>T c.(730-732)ccC>ccT p.P244P NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 244 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GGTCCACCCCGGGGGCTGCGT 0.577000 49 79 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451307 155451307 + Missense_Mutation SNP G G A rs146734733 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr6:155451307G>A ENST00000461783.3 + 6 2223 c.950G>A c.(949-951)cGc>cAc p.R317H TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 317 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCAGGTATCCGCCTTTCTGAT 0.572000 69 50 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7214424 7214424 + Nonsense_Mutation SNP A A T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:7214424A>T ENST00000336458.8 + 3 654 c.253A>T c.(253-255)Aaa>Taa p.K85* EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85* NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 85 DOHH-binding. K -> R (in Ref. 3; AAD14095). induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CCCCAACATCAAAAGGAATGA 0.468000 4 222 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:6012658T>G ENST00000259569.5 - 1 2960 c.2950A>C c.(2950-2952)Ata>Cta p.I984L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 984 protein transport cytoplasm|nucleus binding p.I984L(4) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363000 4 221 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15695278 15695278 + Missense_Mutation SNP G G A rs139248677 byFrequency TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr9:15695278G>A ENST00000380701.3 + 11 1589 c.1261G>A c.(1261-1263)Gtg>Atg p.V421M CCDC171_ENST00000297641.3_Missense_Mutation_p.V421M NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 421 TGAAAATAACGTGAAAGAATT 0.383000 92 136 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947385 237947385 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr1:237947385G>A ENST00000366574.2 + 90 12690 c.12373G>A c.(12373-12375)Gtc>Atc p.V4125I RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4125 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.V4123I(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) AGCAGAGAGCGTCCTGAATTA 0.512000 48 75 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T T C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr3:195505813T>C ENST00000463781.3 - 2 13097 c.12638A>G c.(12637-12639)gAc>gGc p.D4213G MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213G(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.592000 3 16 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842379 28842379 + Missense_Mutation SNP C C A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr16:28842379C>A ENST00000336783.4 + 10 1474 c.1307C>A c.(1306-1308)cCa>cAa p.P436Q ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 436 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACTTCTGTTCCACCTCCTCCT 0.473000 3 36 1 1 1 1 0 P2RY4 5030 broad.mit.edu 37 X 69478764 69478764 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:69478764C>T ENST00000374519.2 - 1 890 c.711G>A c.(709-711)tcG>tcA p.S237S NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 237 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 GGCGAGAAGACGACTGTGCAG 0.577000 44 27 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576872 28576872 + Missense_Mutation SNP C C T rs138126171 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr18:28576872C>T ENST00000434452.1 - 15 2532 c.2378G>A c.(2377-2379)cGg>cAg p.R793Q DSC3_ENST00000360428.4_Missense_Mutation_p.R793Q NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 793 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CCCAGCCCCCCGGCAGGATTC 0.507000 37 59 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41865285 41865285 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr15:41865285G>A ENST00000263798.3 + 16 2185 c.1961G>A c.(1960-1962)cGa>cAa p.R654Q TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 654 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TTCATCCACCGAGACCTGGCT 0.582000 38 54 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27688692 27688692 + Missense_Mutation SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr2:27688692C>G ENST00000260570.3 - 17 1853 c.1750G>C c.(1750-1752)Ggt>Cgt p.G584R NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 584 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GTAGTCACACCTTCCATCACC 0.517000 312 439 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123516546 123516546 + Missense_Mutation SNP T T C TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:123516546T>C ENST00000422452.2 - 31 7477 c.7414A>G c.(7414-7416)Aaa>Gaa p.K2472E TENM1_ENST00000371130.3_Missense_Mutation_p.K2465E|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCTTGAGTTTTTGTCTGAAGC 0.363000 131 233 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89592756 89592756 + Missense_Mutation SNP G G A rs147673636 TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr16:89592756G>A ENST00000268704.2 + 5 653 c.638G>A c.(637-639)cGa>cAa p.R213Q SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 213 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TTGATGTACCGAATGCAGGTT 0.532000 4 244 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199652 86199652 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr12:86199652G>A ENST00000361228.3 - 2 504 c.136C>T c.(136-138)Cgc>Tgc p.R46C NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 46 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGTGGTGCGTTTAGTCAGC 0.453000 94 103 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134989501 134989501 + Nonsense_Mutation SNP G G T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chrX:134989501G>T ENST00000535938.1 + 9 1074 c.907G>T c.(907-909)Gag>Tag p.E303* SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E303* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 303 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGTCTGTGAAGAGAAGATGGA 0.428000 5 272 0.0215528 0.0222059 1 1 0 CDHR2 54825 broad.mit.edu 37 5 175995743 175995743 + Silent SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr5:175995743C>T ENST00000510636.1 + 4 463 c.189C>T c.(187-189)agC>agT p.S63S CDHR2_ENST00000261944.5_Silent_p.S63S|CDHR2_ENST00000506348.1_Silent_p.S63S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 63 Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ATGGGATGAGCGGCCCCAATG 0.612000 4 142 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659536 24659536 + RNA SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr22:24659536C>T ENST00000414583.2 + 0 3061 NR_003714.1 GATCTCATCGCGGACACCACT 0.512000 6 44 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28883967 28883967 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr16:28883967C>T ENST00000337120.5 + 7 5129 c.1838C>T c.(1837-1839)tCg>tTg p.S613L SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000322610.8_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 613 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCTTTGGAGTCGGGAGGCTCC 0.612000 61 59 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27682984 27682984 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr1:27682984C>T ENST00000374040.3 - 25 3768 c.3508G>A c.(3508-3510)Gaa>Aaa p.E1170K MAP3K6_ENST00000493901.1_Missense_Mutation_p.E1178K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1178 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCCAGGATTTCGCGCAGCCTG 0.627000 25 28 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771352 24771352 + Missense_Mutation SNP C C T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr8:24771352C>T ENST00000221166.5 + 1 828 c.46C>T c.(46-48)Cgg>Tgg p.R16W NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W P07197 NFM_HUMAN neurofilament, medium polypeptide 16 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGCCTACCGGCGGGTAACCGA 0.701000 13 14 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19195264 19195264 + Missense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr16:19195264G>A ENST00000562034.1 + 3 4361 c.563G>A c.(562-564)cGc>cAc p.R188H SYT17_ENST00000355377.2_Missense_Mutation_p.R249H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H|SYT17_ENST00000568115.1_Missense_Mutation_p.R188H Q9BSW7 SYT17_HUMAN synaptotagmin XVII 249 C2 1. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 GGGGTCAAACGCAAGACCCAG 0.592000 52 159 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73319293 73319293 + Nonsense_Mutation SNP C C G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr13:73319293C>G ENST00000390667.5 + 8 783 c.686C>G c.(685-687)tCa>tGa p.S229* BORA_ENST00000377815.3_Nonsense_Mutation_p.S159* NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 229 Ser-rich. cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATGTTTTATTCAATAGATTTG 0.443000 4 227 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38902218 38902218 + Frame_Shift_Del DEL A A - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr7:38902218delA ENST00000310301.4 - 4 227 c.173delT c.(172-174)tgfs p.L58fs VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 58 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GCCCAATGCCAAAAACTGTAA 0.308 8 325 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 844731 844732 + RNA INS - - G TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr8:844731_844732insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA GGTGGCTGGCAGGGCAGGGTGG 0.713 4 2 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73482037 73482039 + In_Frame_Del DEL TGC TGC - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:73482037_73482039delTGC ENST00000314256.7 + 4 624_626 c.230_232delTGC c.(229-234)gtg>g p.VL77del KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 77 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTACTGGCCGTGCTGCTGCTGCT 0.675 7 282 --- --- --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:73569700_73569701insG ENST00000392550.3 + 21 2981_2982 c.2864_2865insG c.(2863-2865)cagfs p.Q955fs LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 9 521 --- --- --- --- SAP30BP 29115 broad.mit.edu 37 17 73702109 73702109 + Frame_Shift_Del DEL A A - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr17:73702109delA ENST00000584667.1 + 10 939 c.682delA c.(682-684)aafs p.K229fs SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 229 Thr-rich. apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GACGGGCACCAAAAAAGGcac 0.572 7 545 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3168873 3168873 + Frame_Shift_Del DEL A A - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr18:3168873delA ENST00000400569.3 - 9 1614 c.1281delT c.(1279-1281)cgfs p.R427fs MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000356443.4_Frame_Shift_Del_p.R427fs P52179 MYOM1_HUMAN myomesin 1 427 Ig-like C2-type 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGATGACAACACGACAGCCTA 0.428 34 53 --- --- --- --- BTBD3 22903 broad.mit.edu 37 20 11899098 11899100 + In_Frame_Del DEL AAG AAG - TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643 7710113a-645a-4c0c-a3a4-48eb1885b66d g.chr20:11899098_11899100delAAG ENST00000405977.1 + 2 800_802 c.175_177delAAG c.(175-177)del p.K61del BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 61 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GAAGACTAAAAAGAAGAAGATGG 0.453 129 300 --- --- --- ---