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 ZNF253 56242 broad.mit.edu 37 19 19990917 19990917 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:19990917T>C ENST00000589717.1 + 3 280 c.188T>C c.(187-189)tTa>tCa p.L63S ZNF253_ENST00000355650.4_Intron NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 63 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAAAAACCTTTAACTATGGAA 0.378000 20 63 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414490 138414490 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:138414490G>A ENST00000409968.1 + 23 4408 c.4230G>A c.(4228-4230)gaG>gaA p.E1410E THSD7B_ENST00000272643.3_Silent_p.E1413E|THSD7B_ENST00000413152.2_Silent_p.E1382E|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTCTTTTGAGAACCAAGACA 0.443000 96 107 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911716 54911716 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:54911716C>T ENST00000293373.6 + 13 1411 c.1332C>T c.(1330-1332)atC>atT p.I444I NCKAP1L_ENST00000545638.2_Silent_p.I394I NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 444 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCAGTGACATCATTCAGGTAT 0.403000 23 75 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224802 10224802 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:10224802G>A ENST00000556468.1 + 13 1800 c.1773G>A c.(1771-1773)aaG>aaA p.K591K PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Silent_p.K591K|P2RY11_ENST00000321826.4_Silent_p.K171K peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CCCACCTGAAGAGGCCGCAGC 0.706000 19 20 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57714210 57714210 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:57714210C>T ENST00000333493.4 + 7 862 c.701C>T c.(700-702)tCc>tTc p.S234F GPR97_ENST00000327655.6_Missense_Mutation_p.S24F|GPR97_ENST00000450388.3_Missense_Mutation_p.S114F NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 234 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GAGGGCTGCTCCACGGAGGTC 0.622000 5 25 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130984863 130984863 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:130984863C>T ENST00000341179.7 + 8 1208 c.1116C>T c.(1114-1116)ttC>ttT p.F372F DNM1_ENST00000486160.1_Silent_p.F372F|DNM1_ENST00000475805.1_Silent_p.F372F|DNM1_ENST00000393594.3_Silent_p.F372F|DNM1_ENST00000372923.3_Silent_p.F372F NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 372 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GCTTCCCTTTCGAGCTGGTCA 0.587000 43 36 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141731519 141731519 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:141731519C>T ENST00000475668.2 + 13 1564 c.1510C>T c.(1510-1512)Ccc>Tcc p.P504S MGAM_ENST00000549489.2_Missense_Mutation_p.P504S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 504 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTATACCAATCCCAACTGTGC 0.358000 95 80 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345086 5345086 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:5345086G>A ENST00000328813.2 - 1 496 c.442C>T c.(442-444)Cta>Tta p.L148L HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAACCCCTTAGAAACACTCCC 0.413000 87 37 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947448 165947448 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:165947448C>T ENST00000360093.3 - 28 5706 c.5215G>A c.(5215-5217)Gga>Aga p.G1739R SCN3A_ENST00000283254.7_Missense_Mutation_p.G1739R|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1690R|SCN3A_ENST00000540861.1_Missense_Mutation_p.G222R NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1739 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1739R(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCACAGTCTCCCTTAACTGAG 0.483000 23 233 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113775248 113775248 + Silent SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:113775248C>G ENST00000295878.3 - 1 212 c.66G>C c.(64-66)cgG>cgC p.R22R KIAA1407_ENST00000480588.1_5'UTR|KIAA1407_ENST00000545063.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 22 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TCCTTGTGAACCGTTTCCAGC 0.602000 48 79 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151016157 151016157 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:151016157C>T ENST00000295294.7 + 7 1168 c.559C>T c.(559-561)Cca>Tca p.P187S BNIPL_ENST00000368931.3_Missense_Mutation_p.P269S NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 269 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCCCAAGTTCCACCTCTAAG 0.502000 28 108 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12433880 12433880 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:12433880A>G ENST00000358136.3 + 55 11014 c.10884A>G c.(10882-10884)tcA>tcG p.S3628S VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.S3603S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3627 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGATGTCTCACCCAAGACAC 0.423000 31 22 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62500112 62500112 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:62500112T>C ENST00000225792.5 - 4 831 c.430A>G c.(430-432)Aaa>Gaa p.K144E DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Missense_Mutation_p.K144E NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 144 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GACAATGTTTTCCCAGATCCA 0.388000 T ETV4 prostate 107 234 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24601643 24601643 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:24601643G>A ENST00000267426.5 + 2 779 c.490G>A c.(490-492)Gag>Aag p.E164K FITM1_ENST00000559294.1_5'UTR NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 164 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 GCTGCTCCACGAGCTGCCTGA 0.687000 24 22 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160771659 160771659 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:160771659C>T ENST00000368039.2 + 3 535 c.534C>T c.(532-534)tcC>tcT p.S178S LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCTGGAGTCCATCATCAGCA 0.622000 36 161 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69358905 69358905 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:69358905C>T ENST00000193403.6 - 10 1334 c.951G>A c.(949-951)cgG>cgA p.R317R ACTN1_ENST00000438964.2_Silent_p.R317R|ACTN1_ENST00000376839.3_Silent_p.R252R|ACTN1_ENST00000538545.2_Silent_p.R317R|ACTN1_ENST00000394419.4_Silent_p.R317R NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 317 Interaction with DDN. R -> L (in Ref. 8; CAA38970). focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GCCGGTAGTCCCGGAAGTCCT 0.622000 11 54 0 0 1 0 0 VPS37D 155382 broad.mit.edu 37 7 73085492 73085492 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:73085492C>T ENST00000324941.4 + 4 676 c.542C>T c.(541-543)cCg>cTg p.P181L VPS37D_ENST00000451519.1_Missense_Mutation_p.P96L NM_001077621.1 NP_001071089.1 Q86XT2 VP37D_HUMAN vacuolar protein sorting 37 homolog D (S. cerevisiae) 181 VPS37 C-terminal. cellular membrane organization|endosome transport|protein transport late endosome membrane central_nervous_system(1)|ovary(1) 2 Lung NSC(55;0.0908)|all_lung(88;0.198) TCTGCCCAGCCGGCCCCCACC 0.741000 8 5 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69058575 69058575 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:69058575C>T ENST00000288368.4 + 34 4496 c.4219C>T c.(4219-4221)Ctt>Ttt p.L1407F NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1407 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCATCCTGTTCTTTTTGCACA 0.318000 19 58 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36006465 36006465 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr13:36006465G>A ENST00000540320.1 + 39 6773 c.6239G>A c.(6238-6240)cGa>cAa p.R2080Q NBEA_ENST00000400445.3_Missense_Mutation_p.R2080Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R2077Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R2080Q Q8NFP9 NBEA_HUMAN neurobeachin 2080 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CGAAGGAGACGATTTGTTCGC 0.393000 8 6 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702385 43702385 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:43702385G>A ENST00000405312.3 - 3 710 c.473C>T c.(472-474)cCc>cTc p.P158L PSG4_ENST00000244295.9_Missense_Mutation_p.P158L|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 158 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGCCTCCCTGGGATTTAAGTT 0.537000 127 83 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2940655 2940655 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:2940655G>A ENST00000261596.4 - 5 884 c.646C>T c.(646-648)Cat>Tat p.H216Y NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 216 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TCCCCAGAATGGAAGAGCAAA 0.408000 29 38 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8807842 8807842 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:8807842C>T ENST00000324436.3 - 1 1330 c.1210G>A c.(1210-1212)Gag>Aag p.E404K NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 404 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCCTGTTCCTCGTACTGCTCC 0.637000 17 41 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348001 38348001 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:38348001C>T ENST00000273173.4 + 1 575 c.484C>T c.(484-486)Cct>Tct p.P162S SLC22A14_ENST00000448498.1_Missense_Mutation_p.P162S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 162 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GTGGATCTATCCTGACGCTAA 0.493000 28 71 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139787 142139787 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:142139787G>A ENST00000390374.3 - 0 28 GTCAGGCCAGGATGAGGGCTT 0.532000 17 76 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234442296 234442296 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:234442296G>A ENST00000251722.6 - 11 1414 c.1297C>T c.(1297-1299)Cct>Tct p.P433S USP40_ENST00000450966.1_Missense_Mutation_p.P445S|USP40_ENST00000427112.2_Missense_Mutation_p.P433S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 433 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GATTCTGGAGGAAGCATCTTG 0.408000 44 33 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62518605 62518605 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:62518605G>A ENST00000383710.4 - 13 2581 c.2232C>T c.(2230-2232)atC>atT p.I744I CADPS_ENST00000283269.9_Silent_p.I744I|CADPS_ENST00000357948.3_Silent_p.I727I NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 744 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.I744I(2) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGGTGGGGTCGATCATGGCGC 0.517000 37 31 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:16279248C>T ENST00000343518.6 - 4 1026 c.975G>A c.(973-975)gtG>gtA p.V325V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 22 662 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957434 35957434 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:35957434C>T ENST00000274278.3 - 5 1288 c.931G>A c.(931-933)Gaa>Aaa p.E311K UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E311K|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E277K NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 311 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGAGGACTTCCTGGGACTGA 0.502000 23 20 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523835 95523835 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:95523835G>A ENST00000297591.5 - 13 3043 c.2968C>T c.(2968-2970)Cat>Tat p.H990Y KIAA1429_ENST00000437199.1_Missense_Mutation_p.H990Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H990Y NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 990 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATGTTGACATGGAGCCTCCAA 0.433000 55 58 0 0 1 0 0 SDHC 6391 broad.mit.edu 37 1 161332139 161332139 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:161332139C>T ENST00000342751.4 + 5 287 c.262C>T c.(262-264)Cct>Tct p.P88S SDHC_ENST00000367975.2_Silent_p.G142G|SDHC_ENST00000392169.2_Silent_p.G89G|SDHC_ENST00000513009.1_Missense_Mutation_p.P54S|SDHC_ENST00000432287.2_Silent_p.G108G|SDHC_ENST00000470743.2_3'UTR NM_001035511.1 NP_001030588.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 0 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TAGGAAAAGGCCTGAAGATTC 0.443000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 17 21 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102256031 102256031 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:102256031G>A ENST00000370345.3 - 18 2391 c.2294C>T c.(2293-2295)cCc>cTc p.P765L NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 765 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ACAGTCCCTGGGTAGAAAGCT 0.552000 16 30 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 22 93 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57372427 57372427 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:57372427C>T ENST00000361249.3 + 8 1280 c.1184C>T c.(1183-1185)tCa>tTa p.S395L NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 395 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GGAGGTTTATCAGGAGACCAT 0.423000 149 70 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117853250 117853250 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:117853250C>T ENST00000439649.3 - 7 1330 c.963G>A c.(961-963)ttG>ttA p.L321L GFRA1_ENST00000355422.6_Silent_p.L326L|GFRA1_ENST00000369236.1_Silent_p.L321L|GFRA1_ENST00000544592.1_Silent_p.L205L NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 326 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TCAAAAATTTCAAGCACTCTT 0.443000 20 35 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7016539 7016539 + Missense_Mutation SNP A A C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:7016539A>C ENST00000389658.3 - 21 3033 c.2940T>G c.(2938-2940)tgT>tgG p.C980W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 980 Laminin EGF-like 10. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACACCTGTCACACCTTTTCC 0.562000 37 46 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707266 54707266 + Splice_Site SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:54707266G>T ENST00000545554.1 + 18 4933 c.e18+1 UNC13C_ENST00000260323.11_Splice_Site|UNC13C_ENST00000537900.1_Splice_Site Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCATTAGAAGGTAATTATAAA 0.308000 4 44 0.150653 0.150653 1 1 0 RFX6 222546 broad.mit.edu 37 6 117252524 117252524 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:117252524C>T ENST00000332958.2 + 19 2658 c.2642C>T c.(2641-2643)tCc>tTc p.S881F NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 881 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 ATTCCTTCTTCCTCATCCCAA 0.408000 25 124 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237666761 237666761 + Missense_Mutation SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:237666761C>G ENST00000366574.2 + 22 2886 c.2569C>G c.(2569-2571)Ctg>Gtg p.L857V RYR2_ENST00000360064.6_Missense_Mutation_p.L855V|RYR2_ENST00000542537.1_Missense_Mutation_p.L841V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 857 4 X approximate repeats. 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.L855V(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) CACAGTTTCCCTGACGCAAGC 0.507000 53 39 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128712782 128712782 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:128712782G>A ENST00000357702.5 - 16 2409 c.2278C>T c.(2278-2280)Cca>Tca p.P760S SAP130_ENST00000259235.3_Missense_Mutation_p.P725S|SAP130_ENST00000259234.6_Missense_Mutation_p.P733S NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 725 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ATCATAGTTGGAATGGTCGGT 0.562000 46 55 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52555344 52555344 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:52555344A>T ENST00000262094.5 + 5 983 c.462A>T c.(460-462)aaA>aaT p.K154N RAB27B_ENST00000586594.1_3'UTR|RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 154 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TGGCTGACAAATATGGGTAAG 0.423000 65 82 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920047 48920047 + Silent SNP C C T rs139022158 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:48920047C>T ENST00000310194.1 + 1 633 c.633C>T c.(631-633)ttC>ttT p.F211F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGGGAAACTTCCTTTTGGTCT 0.537000 24 74 0 0 1 0 0 GRASP 160622 broad.mit.edu 37 12 52408955 52408955 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:52408955C>T ENST00000293662.4 + 8 1240 c.1160C>T c.(1159-1161)tCc>tTc p.S387F GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.S244F|GRASP_ENST00000380039.2_Missense_Mutation_p.S244F NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 387 cell junction|perinuclear region of cytoplasm|postsynaptic membrane p.S387F(1) central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTCAACCGCTCCCTGGAGGAG 0.642000 4 5 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481315 228481315 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:228481315G>A ENST00000570156.2 + 46 12490 c.12416G>A c.(12415-12417)aGg>aAg p.R4139K OBSCN_ENST00000366709.4_Missense_Mutation_p.R829K|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3710K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2557K|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3710K|OBSCN_ENST00000366707.4_Missense_Mutation_p.R829K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3181 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCACCGTCAGGGGTAAAGGC 0.612000 14 37 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63520079 63520079 + Missense_Mutation SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:63520079C>G ENST00000377819.5 + 5 2993 c.2839C>G c.(2839-2841)Cgt>Ggt p.R947G RTN3_ENST00000339997.4_Missense_Mutation_p.R928G|RTN3_ENST00000537981.1_Missense_Mutation_p.R151G|RTN3_ENST00000540798.1_Missense_Mutation_p.R835G|RTN3_ENST00000341307.2_Missense_Mutation_p.R151G|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Missense_Mutation_p.R170G NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 947 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ACTCATTATTCGTCTCTTTCT 0.438000 118 50 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17491664 17491664 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:17491664G>A ENST00000302539.4 - 3 521 c.396C>T c.(394-396)ttC>ttT p.F132F ABCC8_ENST00000389817.3_Silent_p.F132F NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 132 F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCAGCTTGGGGAAGTTGGAAG 0.507000 32 10 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48369378 48369378 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:48369378C>T ENST00000380518.3 - 51 3772 c.3608G>A c.(3607-3609)gGa>gAa p.G1203E COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1134E NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1203 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCCAGGATTTCCAGGAGGACC 0.602000 6 16 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33998784 33998784 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:33998784C>T ENST00000373381.4 - 64 10213 c.10037G>A c.(10036-10038)gGg>gAg p.G3346E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3202 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATCCAGGGCCCCGACGTTGGC 0.632000 20 15 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33438598 33438598 + Missense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:33438598C>A ENST00000283629.3 - 12 1739 c.1210G>T c.(1210-1212)Gat>Tat p.D404Y UBP1_ENST00000283628.5_Missense_Mutation_p.D404Y|UBP1_ENST00000447368.2_Missense_Mutation_p.D368Y|UBP1_ENST00000486388.1_5'UTR NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 404 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TGAACTAAATCCTCCTTTGTC 0.353000 20 42 8.34094e-07 8.39926e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179444752 179444752 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179444752C>T ENST00000589042.1 - 318 67486 c.67262G>A c.(67261-67263)gGa>gAa p.G22421E TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20780E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19853E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13481E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13356E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13548E|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20780 Ig-like 116. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGGATTTTCCCTCCTCCAA 0.443000 95 93 0 0 1 0 0 POLR2C 5432 broad.mit.edu 37 16 57503880 57503880 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:57503880C>T ENST00000219252.5 + 7 785 c.447C>T c.(445-447)ctC>ctT p.L149L POLR2C_ENST00000564651.1_3'UTR NM_032940.2 NP_116558.1 P19387 RPB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 149 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 10 CAGACATCCTCATCGTCAAGT 0.542000 11 42 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51455845 51455845 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:51455845G>A ENST00000336334.3 - 2 421 c.69C>T c.(67-69)gtC>gtT p.V23V KLK5_ENST00000593428.1_Silent_p.V23V|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.V23V NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 23 epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GGTTACCTGTGACCCCCAGAA 0.617000 7 30 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545171 82545171 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:82545171C>T ENST00000423517.2 - 7 12468 c.12131G>A c.(12130-12132)cGa>cAa p.R4044Q PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q|PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3975 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R4044Q(2) 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 GACATAATTTCGTGGAGTATG 0.408000 38 119 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112130534 112130534 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:112130534C>T ENST00000455480.2 + 2 198 c.21C>T c.(19-21)ttC>ttT p.F7F ACAD10_ENST00000549590.1_Silent_p.F7F|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Silent_p.F7F NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 7 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGAGCTGTTTCCAGTCCCCCC 0.617000 16 45 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10276209 10276209 + Nonsense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:10276209G>T ENST00000256458.4 + 11 1429 c.1339G>T c.(1339-1341)Gag>Tag p.E447* NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 447 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GACGGGCGTGGAGAACGTGAT 0.612000 17 53 5.01169e-05 5.035e-05 1 1 0 GPC1 2817 broad.mit.edu 37 2 241401698 241401698 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:241401698G>A ENST00000264039.2 + 3 664 c.416G>A c.(415-417)aGg>aAg p.R139K NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 139 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CAGAACGCGAGGGCCTTCCGG 0.672000 4 10 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389943 77389943 + Missense_Mutation SNP G G A rs149929752 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:77389943G>A ENST00000282849.5 - 9 1772 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 452 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P452S(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTTCTGCAGGGATTCCCTTCT 0.428000 42 34 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20535283 20535283 + Missense_Mutation SNP C C T rs139887501 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:20535283C>T ENST00000504154.1 + 18 2029 c.1777C>T c.(1777-1779)Cgt>Tgt p.R593C SLIT2_ENST00000273739.5_Missense_Mutation_p.R597C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R585C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R589C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 593 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TACGAGTAATCGTTTGGAAAA 0.353000 27 141 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96863862 96863862 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:96863862C>T ENST00000375360.3 + 8 2206 c.1866C>T c.(1864-1866)tcC>tcT p.S622S PTPDC1_ENST00000288976.3_Silent_p.S674S|PTPDC1_ENST00000467049.1_3'UTR NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 622 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 AGCTTAATTCCCGAGATGGAG 0.483000 18 53 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79785971 79785971 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:79785971C>T ENST00000372371.3 - 2 198 c.61G>A c.(61-63)Gga>Aga p.G21R NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 21 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GACTTCATTCCAAAACAGATG 0.453000 11 19 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542946 133542946 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:133542946C>T ENST00000409261.1 - 14 1811 c.1438G>A c.(1438-1440)Gat>Aat p.D480N NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D480N NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 480 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GAAGGGTCATCGTCCGCATCA 0.517000 42 88 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011792 34011792 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:34011792G>A ENST00000373381.4 - 57 9121 c.8945C>T c.(8944-8946)cCt>cTt p.P2982L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2955 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGGGATCCCAGGGTCACCGCA 0.557000 32 23 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20943261 20943261 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:20943261C>T ENST00000361505.5 + 5 648 c.502C>T c.(502-504)Cgg>Tgg p.R168W RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 168 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) TGCCTACGACCGGACTATGAG 0.502000 33 31 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186459581 186459581 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:186459581G>A ENST00000265023.4 + 10 1608 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 466 His-rich. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding p.E466K(1) endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCATGGACACGAACAACAGCA 0.463000 10 30 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581131 1581131 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:1581131C>T ENST00000421627.2 + 5 1623 c.1489C>T c.(1489-1491)Caa>Taa p.Q497* NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 576 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TCGAGCCATTCAAGCCGGCTA 0.537000 11 31 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35819941 35819941 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:35819941C>T ENST00000423537.2 - 4 1068 c.799G>A c.(799-801)Gat>Aat p.D267N TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 267 endometrium(2)|kidney(1)|lung(4) 7 CTGGACTCATCCCCAATCCGG 0.493000 20 13 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188763 140188763 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:140188763C>T ENST00000530339.1 + 1 1991 c.1991C>T c.(1990-1992)aCt>aTt p.T664I PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.T664I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.T664I|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACGGCCACTGTGCTGGTG 0.667000 24 77 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881312 69881312 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:69881312C>T ENST00000358913.5 + 2 605 c.117C>T c.(115-117)tcC>tcT p.S39S MYPN_ENST00000540630.1_Silent_p.S39S|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.S39S NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 39 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGCCCTCCTCCAACCCTTGCC 0.512000 18 39 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98362136 98362136 + Missense_Mutation SNP A A C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:98362136A>C ENST00000339364.5 - 16 2380 c.2261T>G c.(2260-2262)gTt>gGt p.V754G PIK3AP1_ENST00000371109.3_Missense_Mutation_p.V353G|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V576G NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 754 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACTTCTGGTAACCTCAGGGAC 0.547000 8 32 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503275 140503275 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:140503275G>A ENST00000194152.1 + 1 1695 c.1695G>A c.(1693-1695)caG>caA p.Q565Q NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 565 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCGCTGCAGAATGGCTCCG 0.701000 54 32 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 213 118 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055976 154055976 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:154055976G>A ENST00000389740.2 - 4 1807 c.1708C>T c.(1708-1710)Ctt>Ttt p.L570F NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 570 integral to membrane|plasma membrane G-protein coupled receptor activity p.L570F(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGGTAGAAAGAGATAGGGTT 0.468000 84 99 0 0 1 0 0 TMX3 54495 broad.mit.edu 37 18 66364468 66364468 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:66364468G>A ENST00000299608.2 - 8 881 c.565C>T c.(565-567)Cct>Tct p.P189S TMX3_ENST00000562706.1_Missense_Mutation_p.P189S|TMX3_ENST00000443099.2_Missense_Mutation_p.P162S NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 189 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 ATTACCTCAGGAACCACTTCT 0.249000 11 16 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118866328 118866328 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:118866328A>G ENST00000295622.1 + 1 1332 c.1292A>G c.(1291-1293)aAc>aGc p.N431S RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.N36S NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 431 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TTCACCAGTAACTTCCAAGCA 0.443000 83 64 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54792317 54792317 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:54792317G>A ENST00000545554.1 + 20 5101 c.5101G>A c.(5101-5103)Gaa>Aaa p.E1701K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1701K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1699K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1701 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGATGAAAACGAAGATGTGTC 0.348000 20 14 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35827561 35827561 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:35827561C>T ENST00000237530.6 + 4 723 c.412C>T c.(412-414)Ccc>Tcc p.P138S RPN2_ENST00000373622.5_Missense_Mutation_p.P106S NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 138 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CTTTGGCCTTCCCTTGGCATC 0.517000 47 64 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101705292 101705292 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:101705292C>T ENST00000305352.6 + 2 1127 c.752C>T c.(751-753)tCg>tTg p.S251L NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 251 KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TCTGAGAAGTCGCTGGCGCTG 0.582000 148 91 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627553 21627553 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:21627553G>A ENST00000425654.2 + 19 2900 c.2420G>A c.(2419-2421)gGa>gAa p.G807E CNKSR2_ENST00000379510.3_Missense_Mutation_p.G837E|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G837E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G788E NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 837 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GTGCTAAATGGAAATGGGGGC 0.532000 55 12 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30436340 30436340 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:30436340G>A ENST00000278979.3 - 10 831 c.755C>T c.(754-756)tCg>tTg p.S252L Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 252 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGTGCAGGACGAGCTCCCAGG 0.632000 9 12 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83447552 83447552 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:83447552C>T ENST00000334574.8 - 6 1258 c.1077G>A c.(1075-1077)gtG>gtA p.V359V FSD2_ENST00000541889.1_Silent_p.V359V A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 359 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TCAGCTGCTCCACATCAGAGA 0.463000 15 15 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780157 91780157 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:91780157C>T ENST00000389857.6 - 15 2089 c.2003G>A c.(2002-2004)aGc>aAc p.S668N NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 668 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CAGGCCCTGGCTCTCATGCTC 0.622000 10 11 0 0 1 0 0 HUS1 3364 broad.mit.edu 37 7 48007430 48007430 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:48007430G>A ENST00000258774.5 - 7 756 c.733C>T c.(733-735)Caa>Taa p.Q245* HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q224* NM_004507.3 NP_004498.1 O60921 HUS1_HUMAN HUS1 checkpoint homolog (S. pombe) 245 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) GGATTTACTTGTTGTCCAGCA 0.403000 Direct reversal of damage;Other conserved DNA damage response genes 85 79 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065265 9065265 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9065265G>A ENST00000397910.4 - 3 22384 c.22181C>T c.(22180-22182)tCc>tTc p.S7394F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7396 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACAGCTGGGAAGATGGAGG 0.507000 4 41 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435715 158435715 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:158435715C>T ENST00000289451.2 + 1 444 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GGGCTATGATCGCTATATGGC 0.527000 222 101 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596940 179596940 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179596940C>T ENST00000589042.1 - 57 16980 c.16756G>A c.(16756-16758)Gag>Aag p.E5586K TTN_ENST00000591111.1_Missense_Mutation_p.E5269K|TTN_ENST00000342992.6_Missense_Mutation_p.E4342K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5269 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGCTGCTCTCCTTAATTTCT 0.433000 93 177 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67709357 67709357 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:67709357G>A ENST00000335894.4 + 15 2252 c.2186G>A c.(2185-2187)tGg>tAg p.W729* IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Nonsense_Mutation_p.W390*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.W465*|IQCH_ENST00000546225.1_Nonsense_Mutation_p.W386* NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 729 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TTCCCGACGTGGAGGAAATTC 0.453000 26 21 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917469 78917469 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:78917469G>A ENST00000412074.2 - 5 635 c.524C>T c.(523-525)cCc>cTc p.P175L CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ACAACCCAGGGGGCCCTCAGT 0.602000 24 67 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275411 238275411 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:238275411C>T ENST00000295550.4 - 11 5871 c.5419G>A c.(5419-5421)Gaa>Aaa p.E1807K COL6A3_ENST00000353578.4_Missense_Mutation_p.E1601K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1607K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1200K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1606K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1601K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1807 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCGCTCAGTTCGGACAGCTCC 0.522000 61 131 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435170 10435170 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:10435170G>A ENST00000245503.5 - 22 2861 c.2477C>T c.(2476-2478)tCc>tTc p.S826F MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S826F|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 826 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATTCATGAAGGATCTGATATT 0.433000 83 24 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944231 55944231 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:55944231C>T ENST00000312298.1 + 1 138 c.138C>T c.(136-138)atC>atT p.I46I NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGGGCATGATCCTCTTAATCC 0.428000 112 52 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189604281 189604281 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:189604281A>G ENST00000264731.3 + 11 1537 c.1448A>G c.(1447-1449)aAc>aGc p.N483S TP63_ENST00000392461.3_Missense_Mutation_p.N389S|TP63_ENST00000320472.5_Missense_Mutation_p.N483S|TP63_ENST00000456148.1_Missense_Mutation_p.N385S|TP63_ENST00000392460.3_Missense_Mutation_p.N483S|TP63_ENST00000449992.1_Missense_Mutation_p.N304S|TP63_ENST00000354600.5_Missense_Mutation_p.N389S|TP63_ENST00000440651.2_Missense_Mutation_p.N479S|TP63_ENST00000392463.2_Missense_Mutation_p.N389S|TP63_ENST00000382063.4_Missense_Mutation_p.N398S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 483 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CAGCTTATCAACCCTCAGCAG 0.498000 HNSCC(45;0.13) 30 53 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902328 23902328 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:23902328T>C ENST00000355349.3 - 4 472 c.310A>G c.(310-312)Aac>Gac p.N104D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 104 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCTTGAGGTTGTAGAGCACC 0.572000 25 26 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48379522 48379522 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:48379522G>A ENST00000380518.3 - 25 1833 c.1669C>T c.(1669-1671)Cct>Tct p.P557S COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P488S NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 557 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CGGGCTCCAGGAAGGCCAGGT 0.652000 12 14 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129120711 129120711 + Silent SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:129120711T>C ENST00000326639.6 + 16 2332 c.2121T>C c.(2119-2121)ttT>ttC p.F707F LARP1B_ENST00000264584.5_Silent_p.F648F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.F126F|LARP1B_ENST00000441387.1_Silent_p.F707F NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 707 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 AAAATGGCTTTACCCAACAAG 0.368000 9 60 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602372 28602372 + Nonsense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:28602372G>T ENST00000434452.1 - 7 1026 c.872C>A c.(871-873)tCa>tAa p.S291* DSC3_ENST00000360428.4_Nonsense_Mutation_p.S291* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 291 Cadherin 2. 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) GAGCCCAGGTGACCTTGGTGT 0.488000 42 48 2.26627e-22 2.32549e-22 1 1 0 DCST1 149095 broad.mit.edu 37 1 155015306 155015306 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:155015306G>A ENST00000295542.1 + 9 1084 c.988G>A c.(988-990)Gaa>Aaa p.E330K DCST1_ENST00000392480.1_Missense_Mutation_p.E330K|DCST1_ENST00000368419.2_Missense_Mutation_p.E330K|DCST1_ENST00000423025.2_Missense_Mutation_p.E305K NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 330 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCTGGATGGGGAATTTTCAGC 0.547000 53 29 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72939610 72939610 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:72939610G>A ENST00000553530.1 + 9 774 c.567G>A c.(565-567)agG>agA p.R189R RGS6_ENST00000355512.6_Silent_p.R189R|RGS6_ENST00000556437.1_Silent_p.R189R|RGS6_ENST00000555571.1_Silent_p.R189R|RGS6_ENST00000407322.4_Silent_p.R189R|RGS6_ENST00000434263.2_Silent_p.R120R|RGS6_ENST00000554782.1_Silent_p.R50R|RGS6_ENST00000553525.1_Silent_p.R189R|RGS6_ENST00000402788.2_Silent_p.R189R|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Silent_p.R189R|RGS6_ENST00000406236.4_Silent_p.R189R|RGS6_ENST00000343854.6_Silent_p.R189R NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 189 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AGACAGAAAGGAAAATTTTGG 0.398000 49 160 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9453708 9453708 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9453708C>T ENST00000393883.2 + 6 2229 c.1581C>T c.(1579-1581)acC>acT p.T527T ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.T447T|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Silent_p.T527T|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.T591T NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 GTGGGCAAACCTTTAGTAATT 0.408000 75 80 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090512 111090512 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:111090512C>T ENST00000262839.2 - 6 2448 c.1530G>A c.(1528-1530)ttG>ttA p.L510L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 510 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCATGCGTCCCAAAGAGATCT 0.438000 77 7 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45541995 45541995 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:45541995G>A ENST00000415258.1 + 14 1825 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K LARS2_ENST00000414984.1_Missense_Mutation_p.E519K|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.E562K Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 562 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) TGGAGGGAAAGAACATGCCGT 0.388000 60 43 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140631107 140631107 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:140631107G>A ENST00000520439.1 - 2 582 c.519C>T c.(517-519)atC>atT p.I173I KCNK9_ENST00000303015.1_Silent_p.I173I Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 173 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGGCCGCCCCGATGCACAGCG 0.562000 21 24 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80276127 80276127 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:80276127G>A ENST00000435819.1 + 6 755 c.71G>A c.(70-72)gGt>gAt p.G24D CD36_ENST00000538969.1_Missense_Mutation_p.G24D|CD36_ENST00000447544.2_Missense_Mutation_p.G24D|CD36_ENST00000394788.3_Missense_Mutation_p.G24D|CD36_ENST00000433696.2_Missense_Mutation_p.G24D|CD36_ENST00000534394.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.G24D|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000432207.1_Missense_Mutation_p.G24D|CD36_ENST00000544133.1_Missense_Mutation_p.G24D P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 24 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 GTGTTTGGAGGTATTCTAATG 0.438000 67 119 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584960 82584960 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:82584960A>T ENST00000423517.2 - 5 5646 c.5309T>A c.(5308-5310)aTt>aAt p.I1770N PCLO_ENST00000333891.8_Missense_Mutation_p.I1770N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1701 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 AGAATCTTCAATAGTAGGCAA 0.433000 72 167 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95994050 95994050 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:95994050C>T ENST00000260766.3 + 6 2829 c.2195C>T c.(2194-2196)tCc>tTc p.S732F PLCE1_ENST00000371385.3_Missense_Mutation_p.S424F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S424F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S732F NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 732 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CGGTACAATTCCCAAGAAGAA 0.532000 20 36 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939060 22939060 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:22939060G>A ENST00000397104.3 - 8 3060 c.3061C>T c.(3061-3063)Cat>Tat p.H1021Y zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCTGAAAGATGGTTAAAAGCT 0.368000 48 31 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144947068 144947068 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:144947068G>A ENST00000525985.1 - 2 425 c.354C>T c.(352-354)gcC>gcT p.A118A P58107 EPIPL_HUMAN epiplakin 1 118 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCCGTAGTGGCACGCTCAG 0.677000 5 31 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94965318 94965318 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:94965318G>A ENST00000261226.4 - 4 1458 c.1327C>T c.(1327-1329)Cgc>Tgc p.R443C TMCC3_ENST00000551457.1_Missense_Mutation_p.R412C NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 443 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 ATGTGGCAGCGACTCTTCATC 0.478000 66 54 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866410 108866410 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:108866410C>T ENST00000332884.6 + 2 1050 c.775C>T c.(775-777)Cta>Tta p.L259L CYP2U1_ENST00000508453.1_Silent_p.L50L|RP11-286E11.1_ENST00000513071.1_RNA NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 259 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) GTCACGAGGCCTAGAAATCTG 0.408000 31 158 0 0 1 0 0 TRMT13 54482 broad.mit.edu 37 1 100613823 100613823 + Missense_Mutation SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:100613823T>A ENST00000370141.2 + 10 1197 c.1191T>A c.(1189-1191)agT>agA p.S397R NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) ATGATGATAGTGAAGAGCATG 0.413000 79 250 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119927499 119927499 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:119927499A>G ENST00000361035.4 + 5 706 c.423A>G c.(421-423)caA>caG p.Q141Q HAO2_ENST00000325945.3_Silent_p.Q128Q NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 128 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GATGGTTCCAACTCTATGTGC 0.488000 42 164 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71068893 71068893 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:71068893G>A ENST00000396094.2 + 10 879 c.831G>A c.(829-831)agG>agA p.R277R NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 277 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 ACAGCCTAAGGGAACCATAAG 0.333000 15 72 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6969552 6969552 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:6969552C>T ENST00000229268.8 + 11 1293 c.1241C>T c.(1240-1242)cCt>cTt p.P414L USP5_ENST00000389231.5_Missense_Mutation_p.P414L NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 414 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 GGCATTGCCCCTCGGATGTTC 0.577000 19 62 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45668901 45668901 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:45668901C>T ENST00000396659.3 - 2 525 c.186G>A c.(184-186)aaG>aaA p.K62K GATM_ENST00000558336.1_Silent_p.K62K NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 62 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CAGGGCAGTCCTTGGGCAGAG 0.572000 20 52 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77685234 77685234 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:77685234G>A ENST00000298351.4 + 3 222 c.78G>A c.(76-78)cgG>cgA p.R26R RP11-463C8.4_ENST00000557752.1_3'UTR NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 26 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCCAGTCTCGGAACACCGTCC 0.602000 4 15 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166824 140166824 + Missense_Mutation SNP G G A rs143010606 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:140166824G>A ENST00000504120.2 + 1 949 c.949G>A c.(949-951)Gaa>Aaa p.E317K PCDHA1_ENST00000378133.3_Missense_Mutation_p.E317K|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E317K NM_018900.2 NP_061723.1 p.E317K(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAATCCTACGAAATTCAAGT 0.353000 71 67 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1098701 1098701 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:1098701C>T ENST00000441003.2 + 37 7098 c.7071C>T c.(7069-7071)ttC>ttT p.F2357F MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4719 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTGCGTGTTCGACAGCTGCT 0.647000 11 4 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173782551 173782551 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:173782551G>A ENST00000264111.6 + 5 653 c.466G>A c.(466-468)Gga>Aga p.G156R RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G156R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G156R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G12R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G3R|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 156 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GTATATGGCAGGACTTCTGGC 0.353000 95 115 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97361523 97361523 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:97361523G>A ENST00000457909.1 + 0 3442 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TCGTGGTGAAGGTGGTAGACA 0.622000 15 10 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233802417 233802417 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:233802417C>T ENST00000366621.3 + 2 600 c.432C>T c.(430-432)ttC>ttT p.F144F KCNK1_ENST00000366620.1_Silent_p.F28F|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 144 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GCATTCCCTTCACCCTCCTGT 0.587000 67 32 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102247616 102247616 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:102247616C>T ENST00000369138.1 + 7 1535 c.1045C>T c.(1045-1047)Cga>Tga p.R349* GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R349*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.R349*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R349*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R349*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R300* NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 349 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCAGTGTAATCGACATAAACC 0.453000 21 74 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57798079 57798079 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:57798079C>T ENST00000309042.7 + 4 3369 c.3055C>T c.(3055-3057)Cta>Tta p.L1019L NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 1019 Interaction with RCOR1. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) AGGAAGTGACCTAAGTGACAA 0.478000 11 47 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79782082 79782082 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:79782082G>A ENST00000372371.3 - 6 843 c.706C>T c.(706-708)Cct>Tct p.P236S NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 236 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAAGTAGAGGAACATCTTCA 0.423000 22 41 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564887 58564887 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:58564887G>A ENST00000282326.1 + 6 942 c.695G>A c.(694-696)gGg>gAg p.G232E NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 232 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CGGGCAGAAGGGACTGTGATC 0.642000 35 22 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180374515 180374515 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:180374515C>T ENST00000231229.4 + 4 911 c.677C>T c.(676-678)aCc>aTc p.T226I BTNL8_ENST00000508408.1_Missense_Mutation_p.T226I|BTNL8_ENST00000533815.2_Missense_Mutation_p.T42I|BTNL8_ENST00000511704.1_Missense_Mutation_p.T110I|BTNL8_ENST00000340184.4_Missense_Mutation_p.T226I|BTNL8_ENST00000400707.3_Missense_Mutation_p.T101I|BTNL8_ENST00000505126.1_Missense_Mutation_p.T19I NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 226 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTTCAGATACCTTTTTCGAG 0.403000 59 222 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174677 207174677 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:207174677G>A ENST00000374423.3 + 5 5811 c.5425G>A c.(5425-5427)Gag>Aag p.E1809K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1809 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GGATGTCATAGAGGATAATCC 0.403000 40 38 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572827 53572827 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:53572827C>T ENST00000601421.1 - 3 1728 c.852G>A c.(850-852)aaG>aaA p.K284K ZNF160_ENST00000418871.1_Silent_p.K320K|ZNF160_ENST00000599056.1_Silent_p.K320K|ZNF160_ENST00000429604.1_Silent_p.K320K Q9HCG1 ZN160_HUMAN zinc finger protein 160 320 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) GCCTGAAGACCTTGCCACACT 0.418000 38 117 0 0 1 0 0 MIR31HG 554202 broad.mit.edu 37 9 21512115 21512115 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:21512115G>A ENST00000304425.3 - 0 181 MIR31_ENST00000362307.1_RNA NR_027054.1 TGTCAGACAGGAAAGATGGCA 0.502000 50 22 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932989 83932989 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:83932989G>A ENST00000345382.2 - 4 1099 c.1014C>T c.(1012-1014)tcC>tcT p.S338S BNC1_ENST00000569704.1_Silent_p.S331S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 338 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGGCCTCAGGGGATAACTGTG 0.458000 43 47 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109922646 109922646 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:109922646G>A ENST00000218054.4 - 11 1354 c.1158C>T c.(1156-1158)ctC>ctT p.L386L CHRDL1_ENST00000482160.1_Silent_p.L308L|CHRDL1_ENST00000394797.4_Silent_p.L386L|CHRDL1_ENST00000434224.1_Silent_p.L307L|CHRDL1_ENST00000444321.2_Silent_p.L387L|CHRDL1_ENST00000372042.1_Silent_p.L388L|CHRDL1_ENST00000372045.1_Silent_p.L380L NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 380 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GGAAGTGCTGGAGAATGCCTA 0.453000 46 11 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770868 53770868 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:53770868C>T ENST00000311170.4 - 1 104 c.51G>A c.(49-51)gtG>gtA p.V17V NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 17 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CCAGGACTCCCACCACGGTCT 0.507000 HNSCC(26;0.072) 13 54 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572826 53572826 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:53572826C>T ENST00000601421.1 - 3 1729 c.853G>A c.(853-855)Gtc>Atc p.V285I ZNF160_ENST00000418871.1_Missense_Mutation_p.V321I|ZNF160_ENST00000599056.1_Missense_Mutation_p.V321I|ZNF160_ENST00000429604.1_Missense_Mutation_p.V321I Q9HCG1 ZN160_HUMAN zinc finger protein 160 321 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TGCCTGAAGACCTTGCCACAC 0.418000 39 115 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184853923 184853923 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:184853923T>C ENST00000367511.3 - 5 638 c.445A>G c.(445-447)Aag>Gag p.K149E NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 149 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GTGTTCTCCTTCTCACTGGAG 0.458000 34 24 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13269302 13269302 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:13269302G>A ENST00000262487.3 + 4 765 c.759G>A c.(757-759)tcG>tcA p.S253S TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 253 TSP type-1. extracellular region p.C248fs*22(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CAACAGAATCGAGGACCTGTG 0.517000 27 51 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21083628 21083628 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:21083628G>A ENST00000255882.6 - 39 4741 c.4655C>T c.(4654-4656)cCc>cTc p.P1552L PI4KA_ENST00000572273.1_Missense_Mutation_p.P1494L|PI4KA_ENST00000414196.3_Missense_Mutation_p.P304L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1494 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGCTAGGTAGGGAGAGATGCT 0.632000 10 21 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89307483 89307483 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:89307483C>T ENST00000338104.6 + 4 454 c.402C>T c.(400-402)acC>acT p.T134T TTC8_ENST00000345383.5_Silent_p.T134T|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Silent_p.T144T|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Silent_p.T134T Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 144 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CACCCAGAACCGCCTACACAG 0.522000 37 25 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267496 1267496 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:1267496C>T ENST00000447027.1 + 31 9453 c.9395C>T c.(9394-9396)cCg>cTg p.P3132L RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P3129L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3129 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). 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) TCCTCCACTCCGGGGACGACC 0.667000 64 26 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139747410 139747410 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:139747410G>A ENST00000230993.6 + 16 2388 c.2353G>A c.(2353-2355)Gct>Act p.A785T SLC4A9_ENST00000507527.1_Missense_Mutation_p.A785T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.A761T|SLC4A9_ENST00000506545.1_Missense_Mutation_p.A698T|SLC4A9_ENST00000432095.2_Missense_Mutation_p.A747T NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 785 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTCCCTGGCTCACATGGA 0.582000 12 13 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136500192 136500192 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:136500192G>A ENST00000308191.6 + 10 1164 c.861G>A c.(859-861)caG>caA p.Q287Q RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 287 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) TCAACAGGCAGAATGAATTTT 0.423000 66 71 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74605288 74605288 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:74605288G>A ENST00000361874.3 - 2 435 c.118C>T c.(118-120)Cac>Tac p.H40Y DCTN1_ENST00000394003.3_Missense_Mutation_p.H40Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H23Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H23Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.H40Y NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 40 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GTGCCTCGGTGGCCTTTTCCA 0.577000 41 48 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51937006 51937006 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:51937006C>T ENST00000310914.5 - 2 165 c.103G>A c.(103-105)Gca>Aca p.A35T NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 35 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCTACCTCTGCCTTTGACTCT 0.488000 69 225 0 0 1 0 0 OTOS 150677 broad.mit.edu 37 2 241078628 241078628 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:241078628C>T ENST00000391989.2 - 5 459 c.229G>A c.(229-231)Ggg>Agg p.G77R OTOS_ENST00000319460.1_Missense_Mutation_p.G77R Q8NHW6 OTOSP_HUMAN otospiralin 77 extracellular region endometrium(2)|large_intestine(1)|lung(3) 6 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AGCGTGCTCCCCAGGGGGAAG 0.647000 28 54 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183050723 183050723 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:183050723G>A ENST00000435564.1 - 13 1660 c.1460C>T c.(1459-1461)tCc>tTc p.S487F PDE1A_ENST00000346717.4_Missense_Mutation_p.S453F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S383F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S487F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S471F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S487F|PDE1A_ENST00000410103.1_Missense_Mutation_p.S487F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S471F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S487F NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 487 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GTAGTCTGGGGAATAGGACCC 0.463000 32 67 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 432672 432672 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:432672G>A ENST00000256509.2 + 22 3263 c.2621G>A c.(2620-2622)gGa>gAa p.G874E CHL1_ENST00000397491.2_Missense_Mutation_p.G858E NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 858 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTGTTGGATGGAAGAACACAT 0.353000 22 73 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325075 162325075 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:162325075G>A ENST00000361897.5 + 7 1096 c.694G>A c.(694-696)Gaa>Aaa p.E232K NOS1AP_ENST00000530878.1_Missense_Mutation_p.E227K NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 232 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGATGTCCTGGAATTCAGCCG 0.587000 39 123 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240458174 240458174 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:240458174C>T ENST00000319653.9 + 8 4436 c.4206C>T c.(4204-4206)ctC>ctT p.L1402L FMN2_ENST00000545751.1_Intron NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1402 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTCAAGCTCTCTATGAGAATG 0.363000 79 48 0 0 1 0 0 ABCA17P 650655 broad.mit.edu 37 16 2436232 2436232 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:2436232G>A ENST00000469908.1 + 0 1487 NR_003574.1 CTCTCCATCGGCATCGCCCTC 0.652000 26 33 0 0 1 0 0 STK17A 9263 broad.mit.edu 37 7 43664182 43664182 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:43664182C>T ENST00000319357.5 + 7 1165 c.986C>T c.(985-987)cCt>cTt p.P329L NM_004760.2 NP_004751.2 Q9UEE5 ST17A_HUMAN serine/threonine kinase 17a 329 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATTCAAGAGCCTTCTTTCAGG 0.423000 50 95 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15648189 15648189 + Missense_Mutation SNP G G C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:15648189G>C ENST00000269703.2 + 5 584 c.385G>C c.(385-387)Gat>Cat p.D129H CYP4F22_ENST00000601005.2_Missense_Mutation_p.D129H NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 129 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCCCCCAAGGATGACCTCTT 0.498000 42 31 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046361 7046361 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:7046361C>T ENST00000356654.4 + 5 2168 c.1931C>T c.(1930-1932)cCg>cTg p.P644L ATN1_ENST00000396684.2_Missense_Mutation_p.P644L NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 644 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 AAGAGAGCCCCGTCCCCGGGG 0.672000 38 24 0 0 1 0 0 IFNA14 3448 broad.mit.edu 37 9 21239422 21239422 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:21239422G>A ENST00000380222.2 - 1 556 c.513C>T c.(511-513)atC>atT p.I171I NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGGATCTCATGATTTCTGCTC 0.393000 210 105 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156759009 156759009 + Silent SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:156759009C>A ENST00000275820.3 + 8 2094 c.2079C>A c.(2077-2079)ctC>ctA p.L693L NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 693 MI. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TTCACGTTCTCATGGATTGCT 0.418000 69 194 5.98616e-33 6.17189e-33 1 1 0 TRHR 7201 broad.mit.edu 37 8 110131453 110131453 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:110131453C>T ENST00000518632.1 + 3 1317 c.966C>T c.(964-966)ctC>ctT p.L322L TRHR_ENST00000311762.2_Silent_p.L322L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 322 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTTACAATCTCATGTCCCAGA 0.438000 85 224 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589783 17589783 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:17589783C>T ENST00000319363.6 + 13 1807 c.1674C>T c.(1672-1674)taC>taT p.Y558Y NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 558 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GGGACAACTACCTGCGGAGCC 0.657000 6 9 0 0 1 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60998446 60998446 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:60998446G>A ENST00000373880.4 + 4 841 c.577G>A c.(577-579)Gaa>Aaa p.E193K PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.E167K NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 193 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 TCAGCACAAAGAATATTTTGA 0.323000 21 54 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163956050 163956050 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:163956050C>T ENST00000361752.3 + 4 990 c.439C>T c.(439-441)Cta>Tta p.L147L QKI_ENST00000361195.2_Silent_p.L147L|QKI_ENST00000392127.2_Silent_p.L147L|QKI_ENST00000275262.7_Silent_p.L147L|QKI_ENST00000453779.2_Silent_p.L147L|QKI_ENST00000424802.3_Silent_p.L147L NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 147 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TTGGGAGCATCTAAATGAAGA 0.343000 40 51 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103008 55103008 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:55103008G>A ENST00000491143.2 + 1 92 c.60G>A c.(58-60)atG>atA p.M20I NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 20 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GCTGCGCCATGAACCCGGAGC 0.741000 4 5 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67263784 67263784 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:67263784C>T ENST00000258201.4 - 21 3571 c.3324G>A c.(3322-3324)atG>atA p.M1108I FHOD1_ENST00000567687.1_Missense_Mutation_p.M687I NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1108 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CCAGAAGGTCCATGATCTCAT 0.572000 18 74 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62672651 62672651 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:62672651G>A ENST00000498273.1 + 3 646 c.351G>A c.(349-351)ggG>ggA p.G117G NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 117 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 ggatggtagggaaaatagaag 0.328000 39 184 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91389455 91389455 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:91389455G>A ENST00000509176.1 + 5 1962 c.1674G>A c.(1672-1674)atG>atA p.M558I CCSER1_ENST00000333691.8_Missense_Mutation_p.M558I|CCSER1_ENST00000432775.2_Missense_Mutation_p.M558I NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TGGAACCAATGATAGAAATGA 0.383000 25 16 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657585 46657585 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:46657585A>T ENST00000544460.1 + 1 1974 c.1720A>T c.(1720-1722)Aat>Tat p.N574Y TDRD6_ENST00000316081.6_Missense_Mutation_p.N574Y NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 574 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGACCGAGGCAATTCGGAAAA 0.448000 47 120 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7240823 7240823 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:7240823C>T ENST00000379938.2 + 11 4498 c.3961C>T c.(3961-3963)Cat>Tat p.H1321Y RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.H1321Y NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1272 P -> R (in Ref. 6; AAC25598/AAC26118). multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TGTTGGATCCCATGATAGCAC 0.517000 24 26 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69640525 69640525 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:69640525G>A ENST00000370598.1 + 4 1653 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 278 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGTCCCTCAGGAACAAGCTGA 0.338000 30 19 0 0 1 0 0 ILK 3611 broad.mit.edu 37 11 6629386 6629386 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:6629386A>G ENST00000396751.2 + 2 656 c.200A>G c.(199-201)gAt>gGt p.D67G ILK_ENST00000537806.1_Intron|ILK_ENST00000528995.1_Missense_Mutation_p.D67G|ILK_ENST00000299421.4_Missense_Mutation_p.D67G|ILK_ENST00000420936.2_Missense_Mutation_p.D67G NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 67 Interaction with LIMS1. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) AACCGTGGGGATGACACCCCC 0.557000 32 7 0 0 1 0 0 HELT 391723 broad.mit.edu 37 4 185940986 185940986 + Missense_Mutation SNP G G C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:185940986G>C ENST00000338875.4 + 3 473 c.473G>C c.(472-474)gGa>gCa p.G158A HELT_ENST00000515777.1_Missense_Mutation_p.G73A|HELT_ENST00000505610.1_Missense_Mutation_p.G73A NM_001029887.1 NP_001025058.1 A6NFD8 HELT_HUMAN helt bHLH transcription factor 158 DNA binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 14 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTTCCCCGGGGAAGGGAAAAA 0.612000 4 18 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33702164 33702164 + Missense_Mutation SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:33702164C>G ENST00000253188.3 - 7 1129 c.983G>C c.(982-984)gGa>gCa p.G328A NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 328 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ATTGATCCCTCCGAAGGTTGA 0.592000 31 19 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103289399 103289399 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:103289399A>G ENST00000520539.1 - 45 6916 c.6310T>C c.(6310-6312)Tat>Cat p.Y2104H UBR5_ENST00000220959.4_Missense_Mutation_p.Y2104H|UBR5_ENST00000521922.1_Missense_Mutation_p.Y2098H NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2104 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTGGCAGCATAAGACATTTTT 0.348000 39 46 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488092 24488092 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:24488092C>T ENST00000264463.4 - 12 2554 c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 683 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTTTTTTTCCTCAATGGCT 0.478000 HNSCC(23;0.051) 42 38 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45668900 45668900 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:45668900C>T ENST00000396659.3 - 2 526 c.187G>A c.(187-189)Gac>Aac p.D63N GATM_ENST00000558336.1_Missense_Mutation_p.D63N NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 63 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) ACAGGGCAGTCCTTGGGCAGA 0.567000 20 54 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182403895 182403895 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:182403895C>T ENST00000410087.3 - 12 1562 c.1462G>A c.(1462-1464)Gaa>Aaa p.E488K CERKL_ENST00000374970.2_Missense_Mutation_p.E419K|CERKL_ENST00000339098.5_Missense_Mutation_p.E514K|CERKL_ENST00000374969.2_Missense_Mutation_p.E375K|CERKL_ENST00000409440.3_Missense_Mutation_p.E470K NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 514 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GAAGCAGTTTCATCCTCCTCC 0.373000 67 122 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73952001 73952001 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:73952001A>G ENST00000537812.1 - 5 1100 c.452T>C c.(451-453)gTt>gCt p.V151A ACOX1_ENST00000301608.4_Missense_Mutation_p.V189A|ACOX1_ENST00000293217.5_Missense_Mutation_p.V189A|ACOX1_ENST00000591857.1_5'UTR NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 189 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 CTGGGCAAGAACTATTGCATG 0.408000 104 202 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21833026 21833026 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:21833026G>A ENST00000216297.2 - 10 1531 c.1193C>T c.(1192-1194)aCc>aTc p.T398I NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 398 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CAGGGCATAGGTTTTCTCTTC 0.428000 40 43 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951758 176951758 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:176951758G>A ENST00000329540.5 - 9 3431 c.602C>T c.(601-603)cCc>cTc p.P201L FAM193B_ENST00000443375.2_Missense_Mutation_p.P542L|FAM193B_ENST00000514747.1_Missense_Mutation_p.P575L Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 251 kidney(1)|large_intestine(3) 4 GACGATACCGGGAGGGGGCCC 0.647000 6 7 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34359456 34359456 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:34359456C>T ENST00000257209.4 + 25 4405 c.4283C>T c.(4282-4284)gCc>gTc p.A1428V FHOD3_ENST00000590592.1_Missense_Mutation_p.A1611V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A624V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1390V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1411V|FHOD3_ENST00000592128.1_Missense_Mutation_p.A407V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1411 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GAAGCCAGAGCCCTGGGCTTG 0.562000 23 31 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32091172 32091172 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:32091172G>A ENST00000396184.3 - 3 326 c.122C>T c.(121-123)tCc>tTc p.S41F PDE1C_ENST00000396191.1_Missense_Mutation_p.S41F|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.S41F|PDE1C_ENST00000396182.2_Missense_Mutation_p.S41F NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 41 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTACCTCTGGGACGTTTTCTT 0.438000 21 51 0 0 1 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011156 23011156 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:23011156C>T ENST00000390304.2 + 0 257 GTGAGCGGCCCTCAGGGATCC 0.562000 22 38 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67673641 67673641 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:67673641C>T ENST00000255674.6 - 47 6787 c.6501G>A c.(6499-6501)tgG>tgA p.W2167* RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 2167 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AAATCAGAGCCCAAAGGGCAG 0.378000 36 56 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207112696 207112696 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:207112696C>T ENST00000356495.4 - 3 339 c.156G>A c.(154-156)cgG>cgA p.R52R NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 52 Ig-like V-type 1. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACCAGTACTTCCGGGTGTGCC 0.567000 16 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066116 9066116 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9066116G>A ENST00000397910.4 - 3 21533 c.21330C>T c.(21328-21330)ccC>ccT p.P7110P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7112 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGGAAATGGGAGGAGGTG 0.517000 16 57 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17740063 17740063 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:17740063C>T ENST00000428389.2 - 32 4002 c.4003G>A c.(4003-4005)Gag>Aag p.E1335K UNC13A_ENST00000519716.2_Missense_Mutation_p.E1247K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1247K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1247K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1247K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1245K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1247 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTCTCCTTCTCCTTGGAGCAG 0.577000 5 9 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3436094 3436094 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:3436094C>T ENST00000301365.4 - 8 1053 c.922G>A c.(922-924)Gag>Aag p.E308K TRPV3_ENST00000576742.1_Missense_Mutation_p.E308K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E308K Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 308 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TTGAAGTCCTCGGCCACGGTC 0.582000 38 12 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98893472 98893472 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:98893472G>A ENST00000295268.3 - 7 981 c.892C>T c.(892-894)Cag>Tag p.Q298* NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GCTTCTTTCTGAACCGAGAAG 0.363000 24 104 0 0 1 0 0 TRMT13 54482 broad.mit.edu 37 1 100613822 100613822 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:100613822G>A ENST00000370141.2 + 10 1196 c.1190G>A c.(1189-1191)aGt>aAt p.S397N NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) AATGATGATAGTGAAGAGCAT 0.413000 82 251 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55222270 55222270 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:55222270G>A ENST00000413439.1 + 0 1718 GGACGCTAAGGAAAGAGGGGA 0.642000 15 18 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866711 37866711 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:37866711C>T ENST00000406381.2 + 9 1298 c.788C>T c.(787-789)gCc>gTc p.A263V ERBB2_ENST00000269571.5_Missense_Mutation_p.A293V|ERBB2_ENST00000584601.1_Missense_Mutation_p.A263V|ERBB2_ENST00000584450.1_Missense_Mutation_p.A293V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A263V|ERBB2_ENST00000578199.1_Missense_Mutation_p.A263V|ERBB2_ENST00000540042.1_Missense_Mutation_p.A263V|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.A278V NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 293 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACATTCGGCGCCAGCTGTGTG 0.552000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 30 35 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39127898 39127898 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:39127898G>A ENST00000351578.6 - 11 2042 c.1852C>T c.(1852-1854)Cca>Tca p.P618S FYB_ENST00000540520.1_Missense_Mutation_p.P628S|FYB_ENST00000512982.1_Missense_Mutation_p.P618S|FYB_ENST00000515010.1_Missense_Mutation_p.P618S|FYB_ENST00000505428.1_Missense_Mutation_p.P618S NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 618 Poly-Pro. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCTGGTGGTGGAGGGAATATC 0.333000 6 21 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43109755 43109755 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:43109755C>T ENST00000230419.4 + 12 2076 c.1855C>T c.(1855-1857)Ccc>Tcc p.P619S PTK7_ENST00000349241.2_Missense_Mutation_p.P489S|PTK7_ENST00000352931.2_Missense_Mutation_p.P619S|PTK7_ENST00000481273.1_Missense_Mutation_p.P627S|PTK7_ENST00000345201.2_Missense_Mutation_p.P579S NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 619 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CCAGGGGGACCCCAAGCCGCT 0.597000 23 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585911 179585911 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179585911T>C ENST00000589042.1 - 79 23059 c.22835A>G c.(22834-22836)aAg>aGg p.K7612R TTN_ENST00000591111.1_Missense_Mutation_p.K7295R|TTN_ENST00000342992.6_Missense_Mutation_p.K6368R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7295 Ig-like 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTAATTTCTTAACAAACTT 0.348000 15 46 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14829380 14829380 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:14829380G>A ENST00000292530.6 + 12 1332 c.1241G>A c.(1240-1242)aGa>aAa p.R414K ZNF333_ENST00000536363.1_Missense_Mutation_p.R305K|ZNF333_ENST00000540689.2_Intron NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 CGACACATGAGAACCCATACC 0.463000 32 44 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493978 55493978 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:55493978C>T ENST00000543010.1 + 6 1055 c.912C>T c.(910-912)atC>atT p.I304I NLRP2_ENST00000538819.1_Silent_p.I280I|NLRP2_ENST00000427260.2_Silent_p.I281I|NLRP2_ENST00000448584.2_Silent_p.I304I|NLRP2_ENST00000391721.4_Silent_p.I280I|NLRP2_ENST00000339757.7_Silent_p.I282I|NLRP2_ENST00000263437.6_Silent_p.I301I|NLRP2_ENST00000537859.1_Silent_p.I282I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 304 NACHT. I -> S (in Ref. 4; BAB15293). apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TCGAGGACATCTGCGGGGACT 0.597000 17 53 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114847 71114847 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:71114847C>T ENST00000304954.3 + 4 306 c.220C>T c.(220-222)Cca>Tca p.P74S NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 74 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 AATTAATAATCCATATGTGCC 0.433000 38 84 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76573629 76573629 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:76573629C>T ENST00000307431.8 + 21 3616 c.3231C>T c.(3229-3231)atC>atT p.I1077I CNTNAP4_ENST00000476707.1_Silent_p.I1081I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.I1029I|CNTNAP4_ENST00000478060.1_Silent_p.I1005I NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1078 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GTTTGCAGATCAGGTACAAGT 0.333000 14 40 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622727 112622727 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:112622727G>A ENST00000550722.1 - 61 10000 c.9605C>T c.(9604-9606)cCc>cTc p.P3202L HECTD4_ENST00000430131.2_Missense_Mutation_p.P2926L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3176L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CATGTCCTCGGGCTTGCTGCC 0.657000 3 34 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57809130 57809130 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:57809130C>T ENST00000281282.5 + 9 2634 c.2556C>T c.(2554-2556)atC>atT p.I852I NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 852 myosin complex|tight junction motor activity p.I852I(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AAAGGCAGATCGAGGACCTGA 0.577000 9 30 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967516 48967516 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:48967516C>T ENST00000391884.1 + 2 1269 c.793C>T c.(793-795)Cgt>Tgt p.R265C KCNJ14_ENST00000342291.2_Missense_Mutation_p.R265C Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 265 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) AGGCACCGATCGTATCTTCCT 0.607000 15 20 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87133570 87133570 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:87133570T>C ENST00000265724.3 - 29 4249 c.3832A>G c.(3832-3834)Aag>Gag p.K1278E ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.K1214E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1278 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CACTGGCGCTTTGTTCCAGCC 0.393000 58 129 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86546549 86546549 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:86546549C>T ENST00000262426.4 + 2 1041 c.998C>T c.(997-999)tCg>tTg p.S333L NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 333 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 CGGTATCACTCGCAGTCGCCC 0.617000 13 58 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52511699 52511699 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr13:52511699G>A ENST00000242839.4 - 18 3972 c.3816C>T c.(3814-3816)tcC>tcT p.S1272S ATP7B_ENST00000400366.3_Silent_p.S1161S|ATP7B_ENST00000418097.2_Silent_p.S1207S|ATP7B_ENST00000417240.2_Silent_p.S483S|ATP7B_ENST00000400370.3_Silent_p.S842S|ATP7B_ENST00000448424.2_Silent_p.S1194S|ATP7B_ENST00000344297.5_Silent_p.S1065S NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1272 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCAAGGCCGGGGAGTCATTGA 0.612000 Wilson disease 48 10 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557922 52557922 + Silent SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:52557922G>T ENST00000321725.6 + 67 7507 c.7431G>T c.(7429-7431)gcG>gcT p.A2477A NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2477 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACCTGTGGCGGCAGGCGTGG 0.657000 17 19 4.75885e-15 4.84864e-15 1 1 0 CTC1 80169 broad.mit.edu 37 17 8135759 8135759 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:8135759G>A ENST00000315684.8 - 12 1987 c.1980C>T c.(1978-1980)atC>atT p.I660I NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 660 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CCCTCTCTACGATCAACTGAA 0.552000 84 43 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53854884 53854884 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:53854884C>T ENST00000603815.1 + 7 811 c.461C>T c.(460-462)tCc>tTc p.S154F PCBP2_ENST00000541275.1_Missense_Mutation_p.S154F|PCBP2_ENST00000447282.1_Missense_Mutation_p.S154F|PCBP2_ENST00000437231.1_Missense_Mutation_p.S154F|PCBP2_ENST00000552819.1_Missense_Mutation_p.S154F|PCBP2_ENST00000552296.2_Missense_Mutation_p.S154F|PCBP2_ENST00000439930.3_Missense_Mutation_p.S154F|PCBP2_ENST00000549863.1_Missense_Mutation_p.S154F|PCBP2_ENST00000548933.1_Missense_Mutation_p.S154F|PCBP2_ENST00000359282.5_Missense_Mutation_p.S154F|PCBP2_ENST00000546463.1_Missense_Mutation_p.S154F|PCBP2_ENST00000359462.5_Missense_Mutation_p.S154F|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.S154F NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 154 KH 2. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 ATTCCACAATCCATCATTGAG 0.532000 24 19 0 0 1 0 0 SYT5 6861 broad.mit.edu 37 19 55687458 55687458 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:55687458G>A ENST00000354308.3 - 4 656 c.287C>T c.(286-288)cCa>cTa p.P96L SYT5_ENST00000590851.1_Missense_Mutation_p.P93L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.P96L NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 96 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity p.S97fs*12(1) kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TGGCCCGGATGGTGCTGGCTC 0.577000 60 74 0 0 1 0 0 CHGA 1113 broad.mit.edu 37 14 93393939 93393939 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:93393939G>A ENST00000216492.5 + 4 512 c.232G>A c.(232-234)Gag>Aag p.E78K CHGA_ENST00000334654.4_Missense_Mutation_p.E78K|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 78 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) TTTACTGAAGGAGCTCCAAGA 0.453000 63 148 0 0 1 0 0 TRAV5 28688 broad.mit.edu 37 14 22217496 22217496 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:22217496C>T ENST00000390427.3 + 0 35 GCTGGATTTTCGTTCCTGTTT 0.458000 94 82 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40291795 40291795 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:40291795G>A ENST00000302541.6 + 14 2687 c.2345G>A c.(2344-2346)cGg>cAg p.R782Q MYRIP_ENST00000444716.1_Missense_Mutation_p.R782Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R595Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R693Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.R717Q NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 782 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACAAGAAGACGGGATCAGAAG 0.433000 23 40 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447157 226447157 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:226447157G>A ENST00000272907.6 + 4 1437 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 342 Pro-rich. ATTTCCCCCCGCCCCCGTGCA 0.632000 11 21 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3350283 3350283 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:3350283C>T ENST00000378398.3 + 18 3821 c.3739C>T c.(3739-3741)Cac>Tac p.H1247Y PRDM16_ENST00000378391.2_Intron|PRDM16_ENST00000442529.2_Intron|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1246Y|PRDM16_ENST00000514189.1_3'UTR|PRDM16_ENST00000511072.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.H1247Y|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 1247 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CACTCCTCTCCACACCCCCTC 0.617000 T EVI1 """MDS, AML""" 51 187 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074222 9074222 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9074222G>A ENST00000397910.4 - 3 13427 c.13224C>T c.(13222-13224)acC>acT p.T4408T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4410 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTAAGGCATGGTTGATGTGT 0.473000 32 118 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 431694 431694 + Missense_Mutation SNP T T G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:431694T>G ENST00000399788.2 - 17 2677 c.2315A>C c.(2314-2316)gAt>gCt p.D772A KDM5A_ENST00000382815.4_Missense_Mutation_p.D772A NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 772 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GTATTTCCTATCCTCAGCATC 0.383000 T NUP98 AML 40 116 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690514 77690514 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:77690514C>T ENST00000521891.2 + 4 3612 c.3164C>T c.(3163-3165)aCc>aTc p.T1055I ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1029I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1029I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1029I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1029 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T1055S(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGTGATTACACCACCAAGGTC 0.517000 HNSCC(33;0.089) 33 96 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41161899 41161899 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:41161899C>T ENST00000263413.3 - 10 1618 c.1354G>A c.(1354-1356)Gga>Aga p.G452R C6_ENST00000337836.5_Missense_Mutation_p.G452R|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 452 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AAAGCTGCTCCATATTCACTC 0.423000 29 67 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 887663 887663 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:887663G>A ENST00000314167.4 - 8 986 c.877_splice c.e8+1 p.I292_splice GAK_ENST00000511163.1_Splice_Site_p.I213_splice NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 292 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGGACTTACGGATGAGGCTGT 0.627000 29 16 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24175005 24175005 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:24175005C>T ENST00000378454.3 - 10 1685 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K DCDC2_ENST00000378450.3_Missense_Mutation_p.E215K NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 462 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TTTTCATTTTCTTCTGGACTG 0.373000 41 86 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917424 48917424 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:48917424C>T ENST00000311378.4 + 2 1303 c.775C>T c.(775-777)Cat>Tat p.H259Y WFIKKN2_ENST00000426127.1_Missense_Mutation_p.H166Y|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 259 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GCGGCCCAACCATGTGCGTGG 0.607000 28 58 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135983700 135983700 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:135983700G>A ENST00000393160.3 - 6 1060 c.707C>T c.(706-708)cCg>cTg p.P236L RALGDS_ENST00000393157.3_Missense_Mutation_p.P290L|RALGDS_ENST00000542690.1_Missense_Mutation_p.P362L|RALGDS_ENST00000372062.3_Missense_Mutation_p.P262L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P279L|RALGDS_ENST00000372050.3_Missense_Mutation_p.P291L NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 291 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ctctggctccggggctggagc 0.622000 T CIITA """PMBL, Hodgkin Lymphona, """ 4 3 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112545961 112545961 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:112545961G>A ENST00000488794.1 - 6 1084 c.495C>T c.(493-495)taC>taT p.Y165Y CD200R1L_ENST00000448932.1_Silent_p.Y165Y|CD200R1L_ENST00000398214.1_Silent_p.Y186Y Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 186 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CATTGCCCCAGTATTCTTGCT 0.522000 20 58 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475859 120475859 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:120475859G>A ENST00000355622.6 + 3 1554 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 485 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTCTTTCCAGGAAAACTTCCT 0.448000 49 63 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32118303 32118303 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:32118303C>T ENST00000373672.3 - 71 5280 c.4764G>A c.(4762-4764)ccG>ccA p.P1588P RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|COL16A1_ENST00000271069.6_Silent_p.P1588P|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1588 Nonhelical region 1 (NC1). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCTGCTCCATCGGCATGGCCC 0.597000 16 57 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134664681 134664681 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:134664681G>A ENST00000368586.5 - 40 5803 c.5703C>T c.(5701-5703)tcC>tcT p.S1901S TTC40_ENST00000263170.5_Silent_p.S62S NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 62 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCTTCTCCAGGGACCCCTGCT 0.627000 12 32 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170031769 170031769 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:170031769G>A ENST00000263816.3 - 55 10987 c.10702C>T c.(10702-10704)Ccg>Tcg p.P3568S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3568 LDL-receptor class A 27. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAAGTCTGCGGGCTGGTGCAG 0.532000 36 58 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74588151 74588151 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:74588151C>T ENST00000321288.5 + 13 1761 c.1761C>T c.(1759-1761)ccC>ccT p.P587P CCDC33_ENST00000398814.3_Silent_p.P384P Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 587 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCTTGGACCCCAAGATCCTGG 0.512000 38 35 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78422296 78422296 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:78422296G>A ENST00000370767.1 - 17 1753 c.1666C>T c.(1666-1668)Cct>Tct p.P556S FUBP1_ENST00000436586.2_Missense_Mutation_p.P577S|FUBP1_ENST00000370768.2_Missense_Mutation_p.P556S Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 556 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCACCTGCAGGGGCTGCTGGT 0.423000 """F, N""" oligodendroglioma 92 52 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131683 110131683 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:110131683G>A ENST00000518632.1 + 3 1547 c.1196G>A c.(1195-1197)tGa>tAa p.*399* TRHR_ENST00000311762.2_Silent_p.*399* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 0 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) AGCCAAAGTTGATTCATGAAT 0.403000 18 45 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119301317 119301317 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:119301317C>T ENST00000338891.7 - 10 2730 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E643K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E763K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E643K NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 763 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TGCTCCTTTTCCTTTTCCTCT 0.318000 13 54 0 0 1 0 0 AP3M2 10947 broad.mit.edu 37 8 42012427 42012427 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:42012427C>T ENST00000518421.1 + 3 513 c.222C>T c.(220-222)gtC>gtT p.V74V AP3M2_ENST00000174653.3_Silent_p.V74V|AP3M2_ENST00000517922.1_Silent_p.V74V|AP3M2_ENST00000396926.3_Silent_p.V74V|AP3M2_ENST00000520685.1_Intron NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 74 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) AGACGGAGGTCCCCCCTCTGT 0.468000 20 57 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63720644 63720644 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:63720644G>A ENST00000421025.1 + 3 354 c.85G>A c.(85-87)Gag>Aag p.E29K ZNF679_ENST00000255746.4_Missense_Mutation_p.E29K NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CTCTCTGGAGGAGTGGCAATG 0.398000 50 148 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95229793 95229793 + Missense_Mutation SNP C C T rs118137678 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:95229793C>T ENST00000295256.5 - 4 418 c.328G>A c.(328-330)Gat>Aat p.D110N HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 110 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) ACTTTCACATCTTGCTTTTTC 0.368000 31 137 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37186469 37186469 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:37186469G>A ENST00000274258.7 - 24 4338 c.751C>T c.(751-753)Ccc>Tcc p.P251S C5orf42_ENST00000508244.1_Missense_Mutation_p.P1370S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1370S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1370 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCAGGATAGGGAAATGCTTTC 0.338000 54 51 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216948 78216948 + Missense_Mutation SNP G G A rs34634066 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:78216948G>A ENST00000171757.2 + 4 1211 c.931G>A c.(931-933)Gag>Aag p.E311K P2RY10_ENST00000544091.1_Missense_Mutation_p.E311K NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 311 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TATGGCTTCAGAGTTTCGTGA 0.468000 99 13 0 0 1 0 0 SUDS3 64426 broad.mit.edu 37 12 118827743 118827743 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:118827743C>T ENST00000543473.1 + 5 664 c.352C>T c.(352-354)Cag>Tag p.Q118* SUDS3_ENST00000397564.2_Intron NM_022491.2 NP_071936.2 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 homolog (S. cerevisiae) 118 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTCTTCCTCCAGCTGGAAGT 0.448000 18 18 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73748358 73748358 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:73748358G>A ENST00000200181.3 + 31 4084 c.3897G>A c.(3895-3897)aaG>aaA p.K1299K GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.K1299K|ITGB4_ENST00000450894.3_Silent_p.K1299K|ITGB4_ENST00000449880.2_Silent_p.K1299K|ITGB4_ENST00000339591.3_Silent_p.K1299K NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1299 Fibronectin type-III 2. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACACGGTGAAGGCGCGCAACG 0.622000 71 155 0 0 1 0 0 TIAL1 7073 broad.mit.edu 37 10 121338307 121338307 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:121338307A>G ENST00000369092.4 - 8 1426 c.118T>C c.(118-120)Ttg>Ctg p.L40L TIAL1_ENST00000436547.2_Silent_p.L163L|TIAL1_ENST00000369093.2_Silent_p.L180L Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 163 RRM 1. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) CGACCACCCAACCACTGACCG 0.403000 7 20 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133471 47133471 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:47133471G>A ENST00000422732.2 - 0 435 NR_033957.1 TCCCTTCATGGGTCCAAAATT 0.448000 25 102 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117060293 117060293 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:117060293G>A ENST00000284629.2 - 4 426 c.364C>T c.(364-366)Cat>Tat p.H122Y NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 122 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCTGAGCCATGAGCAGAACAT 0.363000 51 48 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 33 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026135 72026135 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:72026135C>T ENST00000378743.3 - 15 3335 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 993 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTTGTTGTTCCTTTGCTTTA 0.378000 114 103 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61471977 61471977 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:61471977C>T ENST00000343916.3 + 32 1951 c.1948C>T c.(1948-1950)Cca>Tca p.P650S COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 650 Triple-helical region 1 (COL1). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TCCTGGGCTTCCAGGTGCCAT 0.677000 5 10 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102839170 102839170 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:102839170C>T ENST00000504592.1 + 11 1403 c.985C>T c.(985-987)Cca>Tca p.P329S BANK1_ENST00000322953.4_Missense_Mutation_p.P344S|BANK1_ENST00000428908.1_Missense_Mutation_p.P211S|BANK1_ENST00000444316.2_Missense_Mutation_p.P314S|BANK1_ENST00000508653.1_Missense_Mutation_p.P211S Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 344 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CAAAGAACTTCCAACTCTTCT 0.358000 20 109 0 0 1 0 0 C11orf40 143501 broad.mit.edu 37 11 4594702 4594702 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:4594702C>T ENST00000307616.1 - 2 141 c.141_splice c.e2-1 p.E48_splice NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 48 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTGGATGTTTCCTATCAATGA 0.428000 25 11 0 0 1 0 0 HAT1 8520 broad.mit.edu 37 2 172803230 172803230 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:172803230C>T ENST00000264108.4 + 3 151 c.115C>T c.(115-117)Cgt>Tgt p.R39C SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 39 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) TGAAACAGTTCGTTTTCCTGA 0.313000 40 54 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45184548 45184548 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:45184548C>T ENST00000358777.4 + 6 1236 c.756C>T c.(754-756)tcC>tcT p.S252S CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.S252S|CTB-171A8.1_ENST00000590796.1_RNA NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 252 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) TCCTGGTGTCCCCCATCAGTG 0.602000 7 16 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31540580 31540580 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:31540580G>A ENST00000389082.5 - 21 4046 c.3782C>T c.(3781-3783)aCc>aTc p.T1261I DENND5B_ENST00000306833.6_Missense_Mutation_p.T1296I|DENND5B_ENST00000536562.1_Missense_Mutation_p.T1296I NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1261 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TAGGACTATGGTGAAGTCCTG 0.507000 23 17 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136437776 136437776 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:136437776C>T ENST00000264160.4 + 20 2606 c.2236C>T c.(2236-2238)Cat>Tat p.H746Y R3HDM1_ENST00000409606.1_Missense_Mutation_p.H747Y|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H691Y|R3HDM1_ENST00000329971.3_Missense_Mutation_p.H617Y|R3HDM1_ENST00000409478.1_Missense_Mutation_p.H618Y NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 746 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AGGAATTCCCCATCAGACTTA 0.378000 58 132 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141468 114141468 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:114141468A>G ENST00000276198.1 + 6 1595 c.867A>G c.(865-867)agA>agG p.R289R HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.R289R NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 289 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CACGCCGAAGAAAGAAGAAGG 0.483000 7 121 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153149918 153149918 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:153149918G>A ENST00000285900.5 + 13 2556 c.2213G>A c.(2212-2214)gGa>gAa p.G738E GRIA1_ENST00000521843.2_Missense_Mutation_p.G669E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G748E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G738E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G658E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G748E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 738 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGAAGGTGGGAGGTAACTTG 0.507000 18 51 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44053445 44053445 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:44053445G>A ENST00000306006.6 - 2 735 c.83C>T c.(82-84)tCc>tTc p.S28F ZNF239_ENST00000535642.1_Missense_Mutation_p.S28F|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S28F|ZNF239_ENST00000426961.1_Missense_Mutation_p.S28F NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTGACAAGGGGAAATATCTAG 0.443000 24 43 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038642 75038642 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:75038642C>T ENST00000326665.5 - 14 2970 c.2752G>A c.(2752-2754)Gaa>Aaa p.E918K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 918 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTGCTACTTCATGAAGATGC 0.537000 294 153 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273405 125273405 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:125273405G>A ENST00000335302.5 + 1 325 c.325G>A c.(325-327)Gac>Aac p.D109N NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D109N(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 ATTTTTTACTGACCTGGACAG 0.413000 48 51 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56097972 56097972 + Silent SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:56097972T>A ENST00000394555.2 - 10 1638 c.1203A>T c.(1201-1203)cgA>cgT p.R401R EFEMP1_ENST00000424836.2_Silent_p.R263R|EFEMP1_ENST00000394554.1_Silent_p.R401R|EFEMP1_ENST00000355426.3_Silent_p.R401R NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 401 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCTATCAGATCGGATGCTCA 0.428000 9 113 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018872 14018872 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:14018872C>T ENST00000279593.3 - 2 480 c.271G>A c.(271-273)Gac>Aac p.D91N NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 91 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATCTTCCGGTCAGACATGAGA 0.542000 56 48 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725526 158725526 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:158725526C>T ENST00000368144.2 + 1 1017 c.921C>T c.(919-921)atC>atT p.I307I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTTTTGTTATCCTTGCTCCCT 0.438000 30 149 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30625894 30625894 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:30625894G>A ENST00000358107.4 - 5 1007 c.1008C>T c.(1006-1008)ctC>ctT p.L336L MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.L206L Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 206 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TGAGATATCGGAGCTTAGTGT 0.448000 41 69 0 0 1 0 0 DEFB121 245934 broad.mit.edu 37 20 29993946 29993946 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:29993946G>A ENST00000376314.2 - 1 123 c.10C>T c.(10-12)Ctt>Ttt p.L4F DEFB121_ENST00000376312.3_Intron NM_001011878.2 NP_001011878.1 Q5J5C9 DB121_HUMAN defensin, beta 121 4 defense response to bacterium extracellular region large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGAAGAAGGAGCTTCATG 0.493000 14 35 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768538 117768538 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:117768538C>T ENST00000317775.6 - 2 1022 c.337G>A c.(337-339)Ggt>Agt p.G113S NOS1_ENST00000344089.3_Missense_Mutation_p.G113S|NOS1_ENST00000338101.4_Missense_Mutation_p.G113S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 113 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCCCATCACCTGTAAAGGTG 0.632000 31 21 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61802478 61802478 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:61802478G>A ENST00000280772.1 - 43 13296 c.13105C>T c.(13105-13107)Cgg>Tgg p.R4369W ANK3_ENST00000355288.2_Missense_Mutation_p.R993W|ANK3_ENST00000503366.1_Missense_Mutation_p.R1860W|ANK3_ENST00000373827.2_Missense_Mutation_p.R1853W NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4369 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCACATGCCGGATTTCTTTC 0.398000 35 52 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67129877 67129877 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:67129877G>A ENST00000284425.2 - 6 870 c.696C>T c.(694-696)tcC>tcT p.S232S NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 232 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATACAAGTGGGGAGAAATGAA 0.313000 25 86 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27375019 27375019 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:27375019C>T ENST00000395762.2 + 11 2605 c.2346C>T c.(2344-2346)ccC>ccT p.P782P IL4R_ENST00000170630.2_Silent_p.P782P|IL4R_ENST00000543915.2_Silent_p.P782P|IL4R_ENST00000380922.3_Silent_p.P767P NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 782 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCCTGGCACCCTCGGGCATCT 0.607000 52 47 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97817640 97817640 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:97817640C>T ENST00000265992.5 + 6 1128 c.761C>T c.(760-762)cCt>cTt p.P254L CCNJ_ENST00000465148.2_Missense_Mutation_p.P265L|CCNJ_ENST00000403870.3_Missense_Mutation_p.P253L|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.P254L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 254 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) CAAGCAGGACCTCAGTCAGCG 0.463000 25 60 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224619204 224619204 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:224619204G>A ENST00000414423.2 - 3 795 c.602C>T c.(601-603)tCt>tTt p.S201F WDR26_ENST00000295024.6_Missense_Mutation_p.S54F|WDR26_ENST00000366852.2_Intron NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 201 CTLH. cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) CAACGTTTGAGAGATTTCAAG 0.353000 35 15 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89920915 89920915 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:89920915C>T ENST00000378247.3 + 5 790 c.747C>T c.(745-747)ctC>ctT p.L249L SPIRE2_ENST00000393062.2_Silent_p.L249L NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 249 WH2 1. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GGGTTCAGCTCATGCGGGAGC 0.652000 23 25 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717407 222717407 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:222717407G>A ENST00000343410.6 - 2 504 c.446C>T c.(445-447)tCc>tTc p.S149F NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 149 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GGTCAGCAGGGAAATGGCTGA 0.577000 127 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179486307 179486307 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179486307C>T ENST00000589042.1 - 245 45468 c.45244G>A c.(45244-45246)Gga>Aga p.G15082R TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13441R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12514R|TTN_ENST00000359218.5_Missense_Mutation_p.G6142R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G6017R|TTN_ENST00000342175.6_Missense_Mutation_p.G6209R|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13441 Fibronectin type-III 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTCCGTCCTTCAGTCAGT 0.458000 26 62 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25004817 25004817 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:25004817C>T ENST00000533227.1 + 9 772 c.485C>T c.(484-486)cCa>cTa p.P162L LUZP2_ENST00000336930.6_Missense_Mutation_p.P248L NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 248 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCTAAGCTTCCAGATGCAGCG 0.428000 81 32 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320509 47320509 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr21:47320509G>A ENST00000400314.1 + 6 532 c.194G>A c.(193-195)gGa>gAa p.G65E PCBP3_ENST00000449640.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400310.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400309.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400304.1_Missense_Mutation_p.G33E|PCBP3_ENST00000400308.1_Missense_Mutation_p.G65E P57721 PCBP3_HUMAN poly(rC) binding protein 3 65 KH 1. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTCCAGAAAGGAGAAACTGTG 0.612000 31 32 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637290 39637290 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:39637290C>T ENST00000393989.1 - 1 102 c.60G>A c.(58-60)ggG>ggA p.G20G KRT35_ENST00000246639.2_5'UTR NM_002280.4 NP_002271.3 Q92764 KRT35_HUMAN keratin 35 20 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCCACTGGCCCCTCCTGGGC 0.582000 41 55 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884220 228884220 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:228884220G>A ENST00000392056.3 - 7 1396 c.1350C>T c.(1348-1350)atC>atT p.I450I SPHKAP_ENST00000344657.5_Silent_p.I450I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 450 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAACAACGACGATTTTGGGGA 0.498000 86 72 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276417 34276417 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:34276417G>A ENST00000373381.4 - 10 1549 c.1373C>T c.(1372-1374)tCc>tTc p.S458F CSMD2_ENST00000338325.1_Missense_Mutation_p.S15F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 418 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAAATTGGGGGAGGTGATGAT 0.547000 32 166 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377922 49377922 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:49377922C>T ENST00000200453.5 + 2 1701 c.1432C>T c.(1432-1434)Cac>Tac p.H478Y NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 478 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCAGAGGGCCCACTTCAGGGG 0.572000 8 75 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2489859 2489859 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:2489859C>T ENST00000355716.4 + 3 555 c.256C>T c.(256-258)Cac>Tac p.H86Y TNFRSF14_ENST00000409119.1_Missense_Mutation_p.H86Y|TNFRSF14_ENST00000442392.2_3'UTR NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 86 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) CTACATTGCCCACCTCAATGG 0.627000 """Mis, N, F""" follicular lymphoma 55 173 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725536 55725536 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:55725536C>T ENST00000379667.1 + 1 52 c.52C>T c.(52-54)Cct>Tct p.P18S NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTCTGATGATCCTGACCTTCA 0.408000 49 62 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262518 45262518 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:45262518C>T ENST00000303230.4 - 8 2235 c.2178G>A c.(2176-2178)caG>caA p.Q726Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 726 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGAGTGACAGCTGGGAGGCGG 0.657000 14 13 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204075774 204075774 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:204075774G>A ENST00000449802.1 + 53 8125 c.7792G>A c.(7792-7794)Gaa>Aaa p.E2598K NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2598 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TATAATCGGAGAACACATTGT 0.353000 39 52 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956091 96956091 + Silent SNP G G A rs138641050 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:96956091G>A ENST00000323853.5 - 20 2792 c.2715C>T c.(2713-2715)atC>atT p.I905I SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 905 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.I905I(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TTCCTAGCACGATTTCTGCAT 0.512000 137 152 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3635752 3635752 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:3635752A>G ENST00000263087.4 - 22 2762 c.2664T>C c.(2662-2664)tcT>tcC p.S888S ITGAE_ENST00000571185.1_5'UTR NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 888 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GAATGTTTGGAGAGGGAGGCT 0.458000 28 11 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25514867 25514867 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:25514867G>A ENST00000554726.1 + 0 34 SNHG14_ENST00000452731.1_RNA CAGTGTTTAAGGAAACCATCT 0.443000 13 13 0 0 1 0 0 CCNA2 890 broad.mit.edu 37 4 122741864 122741864 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:122741864A>G ENST00000274026.5 - 4 930 c.627T>C c.(625-627)agT>agC p.S209S NM_001237.3 NP_001228.1 P20248 CCNA2_HUMAN cyclin A2 209 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 TAGCTCTCATACTGTTAGTGA 0.353000 81 58 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123595133 123595133 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:123595133G>A ENST00000340011.5 + 4 1394 c.1037G>A c.(1036-1038)cGa>cAa p.R346Q SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 346 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.R346Q(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AGTATAATGCGAAGTATGGTA 0.338000 130 84 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61306490 61306490 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:61306490C>T ENST00000341074.5 - 7 812 c.697G>A c.(697-699)Gaa>Aaa p.E233K SERPINB4_ENST00000356424.6_Intron NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TATGGTATTTCCAGGACCTTG 0.398000 44 101 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44284865 44284865 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:44284865C>T ENST00000262888.3 - 1 544 c.149G>A c.(148-150)gGg>gAg p.G50E NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 50 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CGAGCACCCCCCGAACCACAG 0.652000 43 44 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66903960 66903960 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:66903960G>A ENST00000269080.2 - 16 2216 c.2079C>T c.(2077-2079)atC>atT p.I693I ABCA8_ENST00000430352.2_Silent_p.I733I|ABCA8_ENST00000586539.1_Silent_p.I733I NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 693 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TGGCATCAGGGATGTGCTGTT 0.333000 43 34 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202195 248202195 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:248202195C>T ENST00000366479.2 + 1 722 c.626C>T c.(625-627)cCt>cTt p.P209L OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTTGTGCTTCCTTTCACTGGT 0.493000 252 149 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7817757 7817757 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:7817757G>A ENST00000379562.3 - 6 611 c.564C>T c.(562-564)gtC>gtT p.V188V KIN_ENST00000535925.1_Silent_p.V188V|KIN_ENST00000543003.1_Silent_p.V82V O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 188 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TAAAAGTAGGGACCTCCTAAA 0.313000 11 19 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413652 178413652 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:178413652G>A ENST00000231188.5 - 8 1781 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S GRM6_ENST00000517717.1_Missense_Mutation_p.P535S|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 535 detection of visible light|visual perception integral to plasma membrane p.P535S(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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) all cancers(165;0.245) CAACAGCAGGGGACGCCCTTC 0.682000 15 33 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123781520 123781520 + Silent SNP G G C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:123781520G>C ENST00000369005.1 + 2 364 c.24G>C c.(22-24)tcG>tcC p.S8S TACC2_ENST00000358010.1_Silent_p.S8S|TACC2_ENST00000334433.3_Silent_p.S8S|TACC2_ENST00000453444.2_Silent_p.S8S|TACC2_ENST00000515273.1_Silent_p.S8S|TACC2_ENST00000513429.1_Silent_p.S8S|TACC2_ENST00000515603.1_Silent_p.S8S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 8 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACAGCACCTCGGACAACCAGG 0.502000 9 19 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14266210 14266210 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:14266210C>T ENST00000340736.6 - 19 3567 c.3270G>A c.(3268-3270)ggG>ggA p.G1090G CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1085G|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1090 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGATGAAGACCCCCTGGAAGG 0.582000 42 55 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24588993 24588993 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:24588993G>A ENST00000446197.3 + 11 1707 c.980G>A c.(979-981)gGa>gAa p.G327E DCAF11_ENST00000396941.4_Missense_Mutation_p.G301E|DCAF11_ENST00000559115.1_Missense_Mutation_p.G327E|DCAF11_ENST00000396936.1_Missense_Mutation_p.G227E NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 327 CUL4 RING ubiquitin ligase complex protein binding TTCTCTGGGGGAGATGATGCC 0.537000 23 18 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541328 187541328 + Nonsense_Mutation SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:187541328T>A ENST00000441802.2 - 10 6621 c.6412A>T c.(6412-6414)Aaa>Taa p.K2138* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2138 Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AATTGCTTTTTCAGTGAAATT 0.428000 HNSCC(5;0.00058) 85 42 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280784 238280784 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:238280784C>T ENST00000295550.4 - 9 4328 c.3876G>A c.(3874-3876)aaG>aaA p.K1292K COL6A3_ENST00000392004.3_Silent_p.K1086K|COL6A3_ENST00000353578.4_Silent_p.K1086K|COL6A3_ENST00000346358.4_Silent_p.K1092K|COL6A3_ENST00000472056.1_Silent_p.K685K|COL6A3_ENST00000347401.3_Silent_p.K1091K|COL6A3_ENST00000392003.2_Silent_p.K885K|COL6A3_ENST00000409809.1_Silent_p.K1086K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1292 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCACTTCATCCTTGCTGGAAT 0.592000 24 48 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045098 55045098 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:55045098C>T ENST00000335056.3 + 3 256 c.218C>T c.(217-219)aCt>aTt p.T73I endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GAGTTGCACACTGGCCTTTCC 0.512000 25 20 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134664680 134664680 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:134664680G>A ENST00000368586.5 - 40 5804 c.5704C>T c.(5704-5706)Ctg>Ttg p.L1902L TTC40_ENST00000263170.5_Silent_p.L63L NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 63 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 AGCTTCTCCAGGGACCCCTGC 0.622000 12 32 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408560 40408560 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:40408560G>A ENST00000221347.6 - 8 4286 c.4279C>T c.(4279-4281)Ccc>Tcc p.P1427S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1427 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGGCAGGGAGAGTCGGGC 0.627000 34 35 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100890919 100890919 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:100890919G>A ENST00000343933.5 - 9 1307 c.1050C>T c.(1048-1050)atC>atT p.I350I CORO2A_ENST00000375077.4_Silent_p.I350I NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 350 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AGATGGGCTCGATGAGGCTTT 0.592000 15 34 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834035 61834035 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:61834035C>T ENST00000280772.1 - 37 6795 c.6604G>A c.(6604-6606)Gaa>Aaa p.E2202K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2202 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTCCAATTCCATAAAAGTA 0.443000 34 58 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178977544 178977544 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:178977544C>T ENST00000286070.5 + 1 363 c.271C>T c.(271-273)Ctc>Ttc p.L91F NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 91 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TGGCCAGTGCCTCGGCCCCAA 0.657000 22 55 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80729767 80729767 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:80729767G>A ENST00000458043.2 + 38 4426 c.4420G>A c.(4420-4422)Gat>Aat p.D1474N OTOGL_ENST00000547103.1_Missense_Mutation_p.D1462N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCCTGTTTATGATTGTAGCCA 0.353000 28 36 0 0 1 0 0 DSCR4 10281 broad.mit.edu 37 21 39492469 39492469 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr21:39492469G>A ENST00000328264.3 - 2 266 c.162C>T c.(160-162)atC>atT p.I54I DSCR4_ENST00000398948.1_Silent_p.I54I NM_005867.2 NP_005858.1 P56555 DSCR4_HUMAN Down syndrome critical region gene 4 54 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 ggcaggaaacgatgttgcaga 0.398000 38 42 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833968 24833968 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:24833968G>A ENST00000376451.2 + 15 4579 c.4319G>A c.(4318-4320)aGa>aAa p.R1440K KIAA1217_ENST00000396445.1_Missense_Mutation_p.R881K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1188K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R841K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R907K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1078K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1757K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1163K Q5T5P2 SKT_HUMAN KIAA1217 1757 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GCCAAGAACAGACCCGGAACC 0.582000 28 60 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891367 18891367 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:18891367C>T ENST00000317658.3 + 1 323 c.165C>T c.(163-165)caC>caT p.H55H NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 55 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GCCACCAACACTGCCAAAAAT 0.453000 25 83 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123215756 123215756 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:123215756G>A ENST00000349780.4 - 21 2950 c.2771C>T c.(2770-2772)tCc>tTc p.S924F CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S924F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S892F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S924F NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 924 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ACCAGGGAGGGAAAGGAGGGC 0.463000 22 91 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 8 11 0 0 1 0 0 FBLN5 10516 broad.mit.edu 37 14 92361306 92361306 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:92361306C>T ENST00000267620.10 - 6 782 c.613G>A c.(613-615)Ggc>Agc p.G205S FBLN5_ENST00000556154.1_Missense_Mutation_p.G169S|FBLN5_ENST00000342058.4_Missense_Mutation_p.G164S Q9UBX5 FBLN5_HUMAN fibulin 5 164 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) AAGCACTGGCCTTCCAGAAGC 0.562000 20 16 0 0 1 0 0 PODNL1 79883 broad.mit.edu 37 19 14043567 14043567 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:14043567G>A ENST00000538517.2 - 6 1461 c.1217C>T c.(1216-1218)cCa>cTa p.P406L PODNL1_ENST00000339560.5_Missense_Mutation_p.P497L|PODNL1_ENST00000538371.2_Missense_Mutation_p.P495L|PODNL1_ENST00000254320.3_Missense_Mutation_p.P415L NM_001146255.1 NP_001139727.1 Q6PEZ8 PONL1_HUMAN podocan-like 1 497 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GCAGGGGGATGGAGGGGCCCT 0.592000 28 36 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874935 80874935 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:80874935C>T ENST00000466387.1 + 22 3380 c.2656C>T c.(2656-2658)Cag>Tag p.Q886* CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q886*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q920*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q886*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.Q565*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q934*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q841* P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 934 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACGAGGTTCTCAGAAGAAACA 0.423000 69 147 0 0 1 0 0 BRF1 2972 broad.mit.edu 37 14 105685584 105685584 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:105685584G>A ENST00000440513.3 - 13 1512 c.1084C>T c.(1084-1086)Cct>Tct p.P362S BRF1_ENST00000446501.2_Intron|BRF1_ENST00000547530.1_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Intron|BRF1_ENST00000549044.1_Intron NM_001242786.1 NP_001229715.1 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 459 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GCGAGCACAGGGAAGTGGGGC 0.622000 13 66 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39801748 39801748 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:39801748C>T ENST00000564288.1 + 37 10265 c.9488C>T c.(9487-9489)tCc>tTc p.S3163F MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1603F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3168F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3200F|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3168 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.S1603Y(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATCAAATTTCCTCATCTAAT 0.378000 39 130 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34096763 34096763 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:34096763G>A ENST00000361264.4 - 6 1153 c.812C>T c.(811-813)tCt>tTt p.S271F NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 271 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 GCCATCCAGAGACACTGCTCC 0.383000 30 11 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148924004 148924004 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:148924004G>A ENST00000264613.6 - 6 1421 c.1159C>T c.(1159-1161)Ccc>Tcc p.P387S NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 387 F5/8 type A 2.|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATACCAGAGGGAGCATAGTTC 0.408000 62 60 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161920 43161920 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr21:43161920G>A ENST00000352483.2 - 9 1641 c.1577C>T c.(1576-1578)gCc>gTc p.A526V RIPK4_ENST00000542057.1_Missense_Mutation_p.A415V|RIPK4_ENST00000332512.3_Missense_Mutation_p.A478V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A415V Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 478 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCTCTCCACGGCCATGTGCAA 0.642000 58 110 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139739778 139739778 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:139739778C>T ENST00000436881.1 + 1 912 c.912C>T c.(910-912)gcC>gcT p.A304A NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 304 Pro-rich. endometrium(2)|large_intestine(1)|lung(6) 9 CCTTCGACGCCTACTACCCCA 0.667000 26 13 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47705472 47705472 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:47705472G>A ENST00000406134.1 + 14 2334 c.2272G>A c.(2272-2274)Gat>Aat p.D758N MSH2_ENST00000543555.1_Missense_Mutation_p.D692N|MSH2_ENST00000233146.2_Missense_Mutation_p.D758N P43246 MSH2_HUMAN mutS homolog 2 758 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCTACCTACGATGGATTTGG 0.373000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 128 110 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267489 71267489 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:71267489G>A ENST00000554752.2 - 2 714 c.715C>T c.(715-717)Cca>Tca p.P239S MAP3K9_ENST00000555993.2_Missense_Mutation_p.P239S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P239S P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 239 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) AGGATGTCTGGGGGAATCCTT 0.502000 26 64 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48080605 48080605 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:48080605A>G ENST00000005386.3 - 9 1065 c.950T>C c.(949-951)cTt>cCt p.L317P RPAP3_ENST00000432584.3_Missense_Mutation_p.L158P|RPAP3_ENST00000380650.4_Missense_Mutation_p.L317P NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 317 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) AGCTGGAAGAAGGGCATTAGC 0.368000 18 57 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44791738 44791738 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:44791738T>C ENST00000291182.4 - 5 1952 c.1850A>G c.(1849-1851)cAt>cGt p.H617R ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) GACTCTCTGATGGGCTTGAAG 0.468000 109 94 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72718005 72718005 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:72718005G>A ENST00000428206.1 - 8 862 c.849C>T c.(847-849)ccC>ccT p.P283P NSUN5_ENST00000310326.8_Silent_p.P321P|NSUN5_ENST00000252594.6_Silent_p.P321P|NSUN5_ENST00000438747.2_Silent_p.P321P NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 321 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) TGCCTGCCCCGGGCTCCTCCA 0.612000 44 35 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882191 228882191 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:228882191C>T ENST00000392056.3 - 7 3425 c.3379G>A c.(3379-3381)Gat>Aat p.D1127N SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1127N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1127 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAAAACTCATCGGTGATGCTC 0.532000 34 38 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766381 88766381 + Missense_Mutation SNP A A C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:88766381A>C ENST00000497649.2 + 6 667 c.289A>C c.(289-291)Act>Cct p.T97P MEPE_ENST00000560249.1_Missense_Mutation_p.T8P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.T121P|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.T121P|MEPE_ENST00000395102.4_Missense_Mutation_p.T152P|MEPE_ENST00000540395.1_Missense_Mutation_p.T8P Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 121 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TCCTAAGTCAACTGGGAATAA 0.358000 22 84 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96024952 96024952 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:96024952G>A ENST00000297954.4 + 13 3361 c.3360_splice c.e13-1 p.E1121_splice WNK2_ENST00000427277.2_Splice_Site_p.E733_splice|WNK2_ENST00000395477.2_Splice_Site_p.E1121_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Splice_Site_p.E733_splice Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1121 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TTTATTTCAGGAGCAGGCCTC 0.642000 18 12 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849364 73849364 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:73849364G>A ENST00000523207.1 + 3 2362 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 592 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGCACAGACCGAGGTCATTGT 0.562000 24 69 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778008 31778008 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:31778008G>A ENST00000375654.4 - 2 1931 c.1742C>T c.(1741-1743)tCg>tTg p.S581L HSPA1L_ENST00000417199.3_Missense_Mutation_p.S581L NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 581 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CTCCAGCCACGAAAGGAGCTC 0.388000 77 69 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125798077 125798077 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:125798077G>A ENST00000346248.5 - 5 1786 c.1144C>T c.(1144-1146)Cag>Tag p.Q382* CHST15_ENST00000421115.1_Nonsense_Mutation_p.Q382*|CHST15_ENST00000435907.1_Nonsense_Mutation_p.Q382* NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 382 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GCATTTGGCTGAAAGGCGTGG 0.512000 17 32 0 0 1 0 0 PPP2R4 5524 broad.mit.edu 37 9 131885399 131885399 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:131885399C>T ENST00000337738.1 + 3 465 c.198C>T c.(196-198)ttC>ttT p.F66F PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Silent_p.F66F|PPP2R4_ENST00000452489.2_Silent_p.F66F|PPP2R4_ENST00000348141.5_Silent_p.F72F|PPP2R4_ENST00000355007.3_Silent_p.F66F|PPP2R4_ENST00000393370.2_Silent_p.F66F NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 66 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) AGCTGACCTTCGAGTACAGAG 0.537000 68 62 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95944843 95944843 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:95944843G>A ENST00000317620.9 + 10 1358 c.1225G>A c.(1225-1227)Gag>Aag p.E409K PROM2_ENST00000542147.1_Missense_Mutation_p.E409K|PROM2_ENST00000317668.4_Missense_Mutation_p.E409K|PROM2_ENST00000403131.2_Missense_Mutation_p.E409K NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 409 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GGAGGTGGAGGAGAGCAGCCG 0.697000 10 16 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399739 90399739 + Missense_Mutation SNP C C T rs11552246 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:90399739C>T ENST00000337338.5 + 3 1519 c.1112C>T c.(1111-1113)tCc>tTc p.S371F LRRC8D_ENST00000394593.3_Missense_Mutation_p.S371F NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 371 S -> Y (in dbSNP:rs11552246). integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) AGTTACATATCCATTATTTGT 0.388000 59 226 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89871755 89871755 + Missense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:89871755C>A ENST00000268124.5 - 6 1515 c.1182G>T c.(1180-1182)caG>caT p.Q394H POLG_ENST00000442287.2_Missense_Mutation_p.Q394H NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 394 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GGGCACAGTACTGCATCAGGT 0.617000 DNA polymerases (catalytic subunits) 35 34 7.16026e-08 7.2441e-08 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180374516 180374516 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:180374516C>T ENST00000231229.4 + 4 912 c.678C>T c.(676-678)acC>acT p.T226T BTNL8_ENST00000508408.1_Silent_p.T226T|BTNL8_ENST00000533815.2_Silent_p.T42T|BTNL8_ENST00000511704.1_Silent_p.T110T|BTNL8_ENST00000340184.4_Silent_p.T226T|BTNL8_ENST00000400707.3_Silent_p.T101T|BTNL8_ENST00000505126.1_Silent_p.T19T NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 226 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCAGATACCTTTTTCGAGC 0.403000 61 219 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371147 240371147 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:240371147C>T ENST00000319653.9 + 5 3265 c.3035C>T c.(3034-3036)cCc>cTc p.P1012L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1012 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCCTCCCCCTCTTCCC 0.741000 31 9 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35435701 35435701 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:35435701C>T ENST00000439785.1 + 5 2278 c.1834C>T c.(1834-1836)Ctt>Ttt p.L612F ZNF30_ENST00000303586.7_Missense_Mutation_p.L612F|ZNF30_ENST00000601142.1_Missense_Mutation_p.L611F|ZNF30_ENST00000426813.2_Missense_Mutation_p.L530F|ZNF30_ENST00000601957.1_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CAGTTCAGCCCTTAAAGTGCA 0.423000 20 16 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557923 52557923 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:52557923G>A ENST00000321725.6 + 67 7508 c.7432G>A c.(7432-7434)Gca>Aca p.A2478T NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2478 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACCTGTGGCGGCAGGCGTGGG 0.662000 17 19 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118539256 118539256 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:118539256C>T ENST00000336338.5 - 33 4952 c.4887G>A c.(4885-4887)aaG>aaA p.K1629K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1629 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTGATGATTCTTTTCAAGGT 0.318000 33 93 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95076517 95076517 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:95076517G>A ENST00000371501.4 - 50 5774 c.5652C>T c.(5650-5652)atC>atT p.I1884I MYOF_ENST00000371502.4_Silent_p.I1874I|MYOF_ENST00000358334.5_Silent_p.I1871I|MYOF_ENST00000359263.4_Silent_p.I1884I Q9NZM1 MYOF_HUMAN myoferlin 1884 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATATCTGAATGATCAGCCTGG 0.398000 5 33 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218975 49218975 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:49218975G>A ENST00000327979.2 - 13 1692 c.1281C>T c.(1279-1281)ttC>ttT p.F427F FAM65C_ENST00000045083.2_Silent_p.F427F|FAM65C_ENST00000535356.1_Silent_p.F431F Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 427 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCAAGGGCAGGAAGCCCACAT 0.647000 30 52 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2061874 2061874 + Missense_Mutation SNP G G A rs145623669 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:2061874G>A ENST00000280665.6 - 7 1311 c.1232C>T c.(1231-1233)tCc>tTc p.S411F DCP1B_ENST00000397173.4_Missense_Mutation_p.S309F|DCP1B_ENST00000540622.1_Missense_Mutation_p.S285F NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 411 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AGGTGGAAGGGAGCCATTGAA 0.567000 39 86 0 0 1 0 0 FAM115A 9747 broad.mit.edu 37 7 143573514 143573514 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:143573514G>A ENST00000479870.1 - 2 396 c.188C>T c.(187-189)tCc>tTc p.S63F FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.S63F NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 63 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) GTCCTCATGGGACACGACCAC 0.582000 50 48 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61914986 61914986 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:61914986C>T ENST00000448276.2 - 2 482 c.e2-1 SMARCD2_ENST00000323347.10_Splice_Site|SMARCD2_ENST00000225742.9_Splice_Site NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 TGCCAGGTCGCTGGGGGAAGT 0.667000 20 21 0 0 1 0 0 KLRF1 51348 broad.mit.edu 37 12 9997104 9997104 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:9997104C>T ENST00000279544.3 + 6 742 c.678C>T c.(676-678)ttC>ttT p.F226F KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000324214.4_Silent_p.F176F|KLRF1_ENST00000354855.3_3'UTR NM_016523.1 NP_057607.1 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 226 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 GCAGTGTTTTCAAATGGATTT 0.353000 13 24 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49357015 49357015 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:49357015C>T ENST00000263265.6 - 12 1805 c.1250G>A c.(1249-1251)gGg>gAg p.G417E PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G392E NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 417 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCAGGCCCTCCCGGGAGCCCC 0.652000 13 10 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79360125 79360125 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:79360125G>A ENST00000264895.6 + 40 5876 c.5436G>A c.(5434-5436)atG>atA p.M1812I FRAS1_ENST00000325942.6_Missense_Mutation_p.M1812I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1811 cell communication integral to membrane|plasma membrane metal ion binding p.M1812I(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCTCTGACATGGACCACAACC 0.373000 54 193 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160477489 160477489 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:160477489T>C ENST00000356956.1 + 20 2876 c.2728T>C c.(2728-2730)Tgt>Cgt p.C910R NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 910 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CAACTGGGAGTGTGTGGTCAG 0.488000 36 47 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890188 51890188 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:51890188C>T ENST00000371117.3 - 32 4695 c.4420G>A c.(4420-4422)Ggg>Agg p.G1474R PKHD1_ENST00000340994.4_Missense_Mutation_p.G1474R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1474 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTGCAATTCCCCTGACACTCG 0.542000 36 27 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108264237 108264237 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:108264237C>T ENST00000520734.1 - 8 1028 c.743G>A c.(742-744)tGg>tAg p.W248* ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Nonsense_Mutation_p.W247* Q15389 ANGP1_HUMAN angiopoietin 1 448 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGCATCAAACCACCATCCTGA 0.368000 47 46 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880918 200880918 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:200880918C>T ENST00000367342.4 + 9 1752 c.1552C>T c.(1552-1554)Ccg>Tcg p.P518S C1orf106_ENST00000413687.2_Missense_Mutation_p.P433S NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 518 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TGGCTATTTCCCGGCGGGGCG 0.731000 8 41 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20552029 20552029 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:20552029C>T ENST00000329697.6 - 13 1744 c.1576G>A c.(1576-1578)Gag>Aag p.E526K ACSM2B_ENST00000567001.1_Missense_Mutation_p.E526K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E526K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E447K NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 526 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGCTGCAGCTCCTTGGTGAGC 0.488000 73 55 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709237 176709237 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:176709237C>T ENST00000367662.3 + 14 5220 c.4056C>T c.(4054-4056)atC>atT p.I1352I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1352 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGTCGGCATCTCAGCTGTGG 0.517000 95 72 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885948 20885948 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:20885948C>T ENST00000381552.1 + 10 1660 c.1292C>T c.(1291-1293)tCa>tTa p.S431L SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S382L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S431L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S313L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S431L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 431 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TACTTGGGATCATCTGTCTTT 0.448000 18 118 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230883314 230883314 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:230883314C>T ENST00000354537.1 + 1 154 c.72C>T c.(70-72)tcC>tcT p.S24S CAPN9_ENST00000366666.2_Silent_p.S24S|CAPN9_ENST00000271971.2_Silent_p.S24S|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 24 digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TCACCCACTCCTCAGGCCAGA 0.617000 86 59 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569882 150569882 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:150569882G>A ENST00000361131.4 + 4 541 c.423_splice c.e4-1 p.E142_splice NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 142 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) TCTCTTTTAGGAATTTATCAA 0.383000 20 23 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82924368 82924368 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:82924368G>A ENST00000306270.7 - 12 2329 c.1780C>T c.(1780-1782)Ctt>Ttt p.L594F IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.L594F NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 594 BTB 1. negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CCATCTGAAAGAAACAATTTC 0.368000 44 41 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159847249 159847249 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:159847249G>A ENST00000426543.2 - 9 1248 c.793C>T c.(793-795)Cga>Tga p.R265* CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.R350* Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 350 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCTGCTTCTCGAGCCTGCCGG 0.532000 43 176 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23287312 23287312 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:23287312G>A ENST00000298032.5 + 11 1495 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K ARMC3_ENST00000409049.3_Missense_Mutation_p.E471K|ARMC3_ENST00000376528.4_Missense_Mutation_p.E208K|ARMC3_ENST00000409983.3_Missense_Mutation_p.E471K NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 471 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTGTGACGTTGAAGCCCGGAC 0.458000 11 14 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1080287 1080287 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:1080287C>T ENST00000313093.2 + 14 1968 c.1737C>T c.(1735-1737)ttC>ttT p.F579F HMHA1_ENST00000586866.1_Silent_p.F583F|HMHA1_ENST00000543365.1_Silent_p.F462F|HMHA1_ENST00000590577.1_Silent_p.F214F|HMHA1_ENST00000539243.2_Silent_p.F595F|HMHA1_ENST00000536472.1_Silent_p.F419F|HMHA1_ENST00000590214.1_Silent_p.F606F NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 579 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) AGAGCAGCTTCAACGTGAGTG 0.642000 49 54 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6472754 6472754 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:6472754A>G ENST00000358945.3 - 2 979 c.539T>C c.(538-540)cTg>cCg p.L180P SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.L180P|SCNN1A_ENST00000360168.3_Missense_Mutation_p.L239P|SCNN1A_ENST00000543768.1_Missense_Mutation_p.L203P|SCNN1A_ENST00000228916.2_Missense_Mutation_p.L180P|SCNN1A_ENST00000540037.1_5'UTR P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 180 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) AGTCCCCCGCAGGTCGCGACG 0.687000 3 12 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27308495 27308495 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:27308495G>A ENST00000317338.12 - 2 1046 c.618C>T c.(616-618)atC>atT p.I206I SEZ6_ENST00000442608.3_Silent_p.I206I|SEZ6_ENST00000335960.6_Silent_p.I206I|SEZ6_ENST00000360295.9_Silent_p.I206I|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 206 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCTGGATCCCGATCCCTGCGC 0.607000 10 7 0 0 1 0 0 GRASP 160622 broad.mit.edu 37 12 52408956 52408956 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:52408956C>T ENST00000293662.4 + 8 1241 c.1161C>T c.(1159-1161)tcC>tcT p.S387S GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Silent_p.S244S|GRASP_ENST00000380039.2_Silent_p.S244S NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 387 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) TCAACCGCTCCCTGGAGGAGG 0.642000 4 5 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129867244 129867244 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:129867244A>G ENST00000281142.5 - 16 1860 c.1357T>C c.(1357-1359)Ttc>Ctc p.F453L SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 453 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GAAACCAGGAATCTTTGGTGC 0.353000 6 56 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60745779 60745779 + Missense_Mutation SNP G G A rs138320284 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:60745779G>A ENST00000561114.1 - 9 1310 c.1148C>T c.(1147-1149)cCc>cTc p.P383L NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTCCCCTTAGGGGAAAAAAAA 0.338000 15 48 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108682309 108682309 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:108682309C>T ENST00000232603.5 - 27 2833 c.2751G>A c.(2749-2751)ctG>ctA p.L917L MORC1_ENST00000483760.1_Silent_p.L896L NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 917 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GAAGATTCTTCAGCTTATCCT 0.358000 29 105 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8966751 8966751 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:8966751C>T ENST00000397910.4 - 81 43405 c.43202G>A c.(43201-43203)aGa>aAa p.R14401K MUC16_ENST00000380951.5_Missense_Mutation_p.R1042K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14499 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGTCTACTCTCCGAGCCAG 0.552000 2 0 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70729523 70729523 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:70729523C>T ENST00000261776.5 - 17 2219 c.1959G>A c.(1957-1959)ggG>ggA p.G653G VAC14_ENST00000536184.2_Silent_p.G85G NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 653 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CCTCCAGGTCCCCACTGGGTG 0.617000 13 36 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10223803 10223803 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:10223803G>A ENST00000418404.3 - 24 3285 c.3122C>T c.(3121-3123)tCc>tTc p.S1041F MYH13_ENST00000570743.1_Missense_Mutation_p.S1041F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S1041F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1041 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGCTCTAAGGAACCCTCAAG 0.512000 6 3 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43907878 43907878 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:43907878C>T ENST00000314537.5 + 7 876 c.651C>T c.(649-651)atC>atT p.I217I CRHR1_ENST00000398285.3_Silent_p.I246I|CRHR1_ENST00000577353.1_Silent_p.I217I|CRHR1_ENST00000339069.5_Silent_p.I116I|CRHR1_ENST00000293493.7_Silent_p.I42I|CRHR1_ENST00000352855.5_Silent_p.I177I NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 246 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACACAGCCATCGTGCTCACCT 0.617000 86 80 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058776 152058776 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:152058776C>T ENST00000368806.1 - 3 1446 c.1382G>A c.(1381-1383)gGa>gAa p.G461E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 461 calcium ion binding p.G461E(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GACTGCTGTTCCTTCAAGTTC 0.458000 265 158 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720501 95720501 + RNA SNP T T C rs12571819 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:95720501T>C ENST00000480546.1 - 0 796 NR_002319.2 TCGCTCTTTCTGGGAAGCCCG 0.448000 4 52 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79805119 79805119 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:79805119C>T ENST00000331483.4 - 5 951 c.729_splice c.e5+1 p.Q243_splice P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Splice_Site_p.Q199_splice NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 243 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCAGCCGCACCTGCTCGGTGA 0.607000 59 126 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83239377 83239377 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:83239377C>T ENST00000296591.5 - 11 1722 c.1304G>A c.(1303-1305)gGa>gAa p.G435E EDIL3_ENST00000380138.3_Missense_Mutation_p.G425E NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 435 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GTCAAAATTTCCCTGGAAAAC 0.398000 19 43 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45511868 45511868 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr21:45511868C>T ENST00000291574.4 + 19 3110 c.2935C>T c.(2935-2937)Ctt>Ttt p.L979F TRAPPC10_ENST00000483973.1_3'UTR NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 979 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AGATAGTTATCTTGTAGATAC 0.383000 66 141 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121431465 121431465 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:121431465C>T ENST00000257555.6 + 3 895 c.669C>T c.(667-669)aaC>aaT p.N223N HNF1A_ENST00000544413.1_Silent_p.N223N|HNF1A_ENST00000402929.1_Silent_p.N223N|HNF1A_ENST00000541395.1_Silent_p.N223N|HNF1A_ENST00000543427.1_Silent_p.N106N|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.N223N P20823 HNF1A_HUMAN HNF1 homeobox A 223 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGCAGAAGAACCCTAGCAAGG 0.597000 Hepatic Adenoma, Familial Clustering of 14 25 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1920400 1920400 + Nonsense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:1920400A>T ENST00000434971.2 - 3 112 c.80T>A c.(79-81)tTa>tAa p.L27* Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 61 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGGATCCTCTAATTCATCTCT 0.403000 16 36 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81172099 81172099 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:81172099G>A ENST00000394685.3 + 5 703 c.284G>A c.(283-285)cGa>cAa p.R95Q KIAA1199_ENST00000220244.3_Missense_Mutation_p.R95Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R95Q Q8WUJ3 K1199_HUMAN KIAA1199 95 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ATTGTTTTGCGAACCCGGCAC 0.498000 36 45 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997545 118997545 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:118997545C>T ENST00000328252.3 + 7 2730 c.2361C>T c.(2359-2361)ttC>ttT p.F787F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 787 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGCTGGAGTTCCTCTACCCCT 0.562000 32 45 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6794288 6794288 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:6794288G>A ENST00000297435.2 - 2 258 c.134C>T c.(133-135)tCc>tTc p.S45F NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 45 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCATGCAAAGGAAATAGATAT 0.557000 17 62 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102783210 102783210 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:102783210G>A ENST00000370215.3 - 4 750 c.525C>T c.(523-525)tcC>tcT p.S175S PDZD7_ENST00000470414.1_Silent_p.S175S NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 175 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TCTTCTCCTTGGAGAACTTGA 0.622000 16 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179393755 179393755 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179393755C>T ENST00000589042.1 - 360 106947 c.106723G>A c.(106723-106725)Gaa>Aaa p.E35575K TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33934K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E33007K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26635K|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26510K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26702K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33934 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTTGACTTCTTCAGAAATC 0.408000 42 39 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1235772 1235772 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:1235772G>A ENST00000324642.3 + 4 739 c.616G>A c.(616-618)Ggg>Agg p.G206R SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206R NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 206 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGAGACTACAGGGAAGGTGAG 0.572000 35 106 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28421699 28421699 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:28421699C>T ENST00000261609.7 - 63 9669 c.9561G>A c.(9559-9561)cgG>cgA p.R3187R NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3187 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACTTCCGCCCCGGCCCAGTT 0.498000 80 65 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100273819 100273819 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:100273819C>T ENST00000515683.1 - 0 365 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GCTTACTTTTCCTGCTGTGCT 0.313000 26 107 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940171 113940171 + Silent SNP C C T rs139939908 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:113940171C>T ENST00000245796.6 + 2 333 c.138C>T c.(136-138)ttC>ttT p.F46F PSD4_ENST00000441564.2_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 46 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGGAGCCTTTCGAGGAGCAAA 0.602000 37 50 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583450 82583450 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:82583450G>A ENST00000423517.2 - 5 7156 c.6819C>T c.(6817-6819)atC>atT p.I2273I PCLO_ENST00000333891.8_Silent_p.I2273I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2204 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 CAGATTCTATGATAGAAGATG 0.408000 119 89 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74838089 74838089 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:74838089G>A ENST00000358399.3 + 7 753 c.660G>A c.(658-660)gaG>gaA p.E220E GDA_ENST00000376989.3_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Silent_p.E146E|GDA_ENST00000238018.4_Silent_p.E220E NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 220 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCTGCTCTGAGACTTTGATGG 0.418000 44 41 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968910 99968910 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:99968910C>T ENST00000298999.3 + 5 1342 c.1039C>T c.(1039-1041)Cac>Tac p.H347Y R3HCC1L_ENST00000370584.3_Missense_Mutation_p.H347Y|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like ACATGTAAAGCACGAACCTCC 0.403000 18 177 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5210798 5210798 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:5210798G>A ENST00000372412.4 - 34 5489 c.5256C>T c.(5254-5256)atC>atT p.I1752I PTPRS_ENST00000587303.1_Silent_p.I1751I|PTPRS_ENST00000353284.2_Silent_p.I1304I|PTPRS_ENST00000348075.2_Silent_p.I1713I|PTPRS_ENST00000262963.6_Silent_p.I1731I|PTPRS_ENST00000592099.1_Silent_p.I1304I|PTPRS_ENST00000357368.4_Silent_p.I1751I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.I1713I Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1751 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCTGTGTCGCGATGTAGGCCT 0.652000 6 25 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940247 36940247 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:36940247T>C ENST00000454319.1 - 5 1026 c.892A>G c.(892-894)Aac>Gac p.N298D ZNF566_ENST00000434377.2_Missense_Mutation_p.N297D|ZNF566_ENST00000392170.2_Missense_Mutation_p.N298D|ZNF566_ENST00000424129.2_Missense_Mutation_p.N297D|ZNF566_ENST00000493391.1_Missense_Mutation_p.N193D NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TGAGTAAAGTTTGAGCCACTA 0.403000 23 79 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466514 68466514 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:68466514C>T ENST00000478136.1 + 3 693 c.203C>T c.(202-204)tCc>tTc p.S68F FAM19A1_ENST00000496687.1_Missense_Mutation_p.S68F|FAM19A1_ENST00000491017.1_3'UTR NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 68 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GTAAAGTGTTCCTGTCTACCT 0.478000 40 58 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591206 125591206 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:125591206G>A ENST00000504087.1 - 4 4263 c.3226C>T c.(3226-3228)Caa>Taa p.Q1076* ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.Q897* NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1076 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CGTCCAAATTGATCAGCATGG 0.418000 89 55 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62291249 62291249 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:62291249G>A ENST00000258991.3 - 2 413 c.329C>T c.(328-330)tCc>tTc p.S110F TEX2_ENST00000583097.1_Missense_Mutation_p.S110F|TEX2_ENST00000584379.1_Missense_Mutation_p.S110F Q8IWB9 TEX2_HUMAN testis expressed 2 110 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AGTGTTCTTGGAGACGGGCAA 0.607000 105 190 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213178687 213178687 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:213178687G>A ENST00000366962.3 - 5 976 c.822C>T c.(820-822)ttC>ttT p.F274F ANGEL2_ENST00000535388.1_Silent_p.F105F|ANGEL2_ENST00000360506.2_Silent_p.F105F|ANGEL2_ENST00000540642.1_Silent_p.F148F|ANGEL2_ENST00000544555.1_Silent_p.F105F NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 274 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TATCAGGGCGGAAGAATTCCA 0.433000 36 166 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110424632 110424632 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:110424632C>T ENST00000378402.5 + 20 2328 c.2224C>T c.(2224-2226)Cct>Tct p.P742S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 742 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTATTGTTTCCTTATAATCA 0.313000 HNSCC(38;0.096) 16 13 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166246237 166246237 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:166246237C>T ENST00000357398.3 + 27 6211 c.5921C>T c.(5920-5922)tCg>tTg p.S1974L SCN2A_ENST00000375427.2_Missense_Mutation_p.S1974L|SCN2A_ENST00000375437.2_Missense_Mutation_p.S1974L|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1974L Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1974 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1974L(1) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCTCCACCCTCGTATGATAGT 0.373000 47 40 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51143207 51143207 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:51143207C>T ENST00000414786.2 + 15 1998 c.1771C>T c.(1771-1773)Ccg>Tcg p.P591S SHANK3_ENST00000445220.2_Missense_Mutation_p.P606S|SHANK3_ENST00000262795.3_Missense_Mutation_p.P621S F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 621 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GCCAGCCTTCCCGGCGCTGCA 0.677000 10 14 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50683953 50683953 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:50683953G>A ENST00000216271.5 - 20 2345 c.1993C>T c.(1993-1995)Cct>Tct p.P665S HDAC10_ENST00000448072.1_Missense_Mutation_p.P615S|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.P645S NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 665 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) accaggtgaggatggcactac 0.672000 14 13 0 0 1 0 0 SIRT3 23410 broad.mit.edu 37 11 233160 233160 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:233160C>T ENST00000382743.4 - 3 631 c.529G>A c.(529-531)Gag>Aag p.E177K SIRT3_ENST00000532956.1_Missense_Mutation_p.E177K|SIRT3_ENST00000524564.1_Missense_Mutation_p.E113K|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000525319.1_Missense_Mutation_p.E96K|SIRT3_ENST00000529382.1_Missense_Mutation_p.E35K NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 177 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) AAAATGGCCTCGGGGTACGGG 0.542000 27 6 0 0 1 0 0 LCN10 414332 broad.mit.edu 37 9 139636463 139636463 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:139636463A>G ENST00000497771.1 - 2 182 c.127T>C c.(127-129)Ttc>Ctc p.F43L LCN6_ENST00000435202.1_3'UTR|LCN6_ENST00000480584.1_Intron|LCN10_ENST00000527229.1_Missense_Mutation_p.F43L|LCN10_ENST00000474369.1_Missense_Mutation_p.F43L NM_001001712.2 NP_001001712.2 Q6JVE6 LCN10_HUMAN lipocalin 10 43 transport extracellular region binding breast(2)|cervix(1)|large_intestine(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) ATGTACCAGAACCCTGAAAAC 0.622000 4 8 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262407 45262407 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:45262407C>T ENST00000303230.4 - 8 2346 c.2289G>A c.(2287-2289)ccG>ccA p.P763P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 763 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTTCATTTTTCGGCGTGGAGC 0.652000 22 25 0 0 1 0 0 GZMB 3002 broad.mit.edu 37 14 25103408 25103408 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:25103408C>T ENST00000382542.1 - 1 65 c.61G>A c.(61-63)Gga>Aga p.G21R RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_5'UTR|GZMB_ENST00000216341.4_5'UTR|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_5'UTR P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CTGTTGTTTCCTCCTTGCTCT 0.532000 3 6 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124393438 124393438 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:124393438A>G ENST00000360013.3 + 49 7297 c.7170A>G c.(7168-7170)gcA>gcG p.A2390A KALRN_ENST00000393496.1_Silent_p.A730A|KALRN_ENST00000428018.2_Silent_p.A661A|KALRN_ENST00000459915.1_Silent_p.A481A|KALRN_ENST00000291478.4_Silent_p.A693A NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2389 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCACAGCAGCAGAAAGTAGTG 0.547000 4 13 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223369 35223369 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:35223369C>T ENST00000338513.1 + 2 611 c.438C>T c.(436-438)ctC>ctT p.L146L NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 146 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) TCGCCTTTCTCTATGTGTTCC 0.547000 36 109 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577848 9577848 + Missense_Mutation SNP C C T rs149138221 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9577848C>T ENST00000301480.4 - 10 1988 c.1775G>A c.(1774-1776)cGa>cAa p.R592Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R592Q(2) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ACTGTGTCTTCGTAAATGTTT 0.408000 95 101 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478641 85478641 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:85478641C>T ENST00000394573.1 + 15 1675 c.1473C>T c.(1471-1473)atC>atT p.I491I SLC28A1_ENST00000537624.1_Silent_p.I491I|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.I491I|SLC28A1_ENST00000537216.1_Silent_p.I491I NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 491 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGCTGGGGATCAAGCTGTTTC 0.597000 28 79 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53686654 53686654 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:53686654C>T ENST00000257934.4 + 30 6152 c.6061C>T c.(6061-6063)Cgg>Tgg p.R2021W ESPL1_ENST00000552462.1_Missense_Mutation_p.R2021W NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 2021 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCTGAGCTGTCGGGCAGTGGC 0.617000 25 34 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939834 22939834 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:22939834C>T ENST00000397104.3 - 6 2496 c.2497G>A c.(2497-2499)Gaa>Aaa p.E833K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCACATTCTTCACATTTGTAC 0.368000 49 31 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160151730 160151730 + Missense_Mutation SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:160151730T>A ENST00000368081.4 + 20 3349 c.2878T>A c.(2878-2880)Tta>Ata p.L960I ATP1A4_ENST00000470705.1_Missense_Mutation_p.L96I|ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 960 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAACAAAGTCTTAATATTTGG 0.527000 184 98 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98547413 98547413 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:98547413C>T ENST00000359863.4 + 36 5272 c.5063C>T c.(5062-5064)aCc>aTc p.T1688I TRRAP_ENST00000355540.3_Missense_Mutation_p.T1670I|TRRAP_ENST00000446306.3_Missense_Mutation_p.T1669I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1688 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGGCAGCCACCAACTGGAAG 0.622000 38 20 0 0 1 0 0 LEF1 51176 broad.mit.edu 37 4 108969862 108969862 + Missense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:108969862G>T ENST00000379951.2 - 10 2315 c.1127C>A c.(1126-1128)aCc>aAc p.T376N LEF1_ENST00000265165.1_3'UTR|LEF1_ENST00000438313.2_3'UTR|LEF1_ENST00000510624.1_3'UTR|LEF1_ENST00000503879.1_5'UTR NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 0 Poly-Lys. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) AGGTCCTGGGGTCGCTGCCTT 0.483000 29 16 8.4185e-14 8.56724e-14 1 1 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258263 25258263 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:25258263G>A ENST00000328086.7 - 5 2057 c.1254C>T c.(1252-1254)ttC>ttT p.F418F NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 418 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TGTCCTCAAAGAAGGCGCAGG 0.493000 52 134 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988879 103988879 + Missense_Mutation SNP G G A rs140986921 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:103988879G>A ENST00000370005.3 + 4 904 c.683G>A c.(682-684)gGa>gAa p.G228E NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 228 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CAGGATCAGGGATGCCACACC 0.512000 14 26 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53671347 53671347 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:53671347C>T ENST00000257934.4 + 10 2270 c.2179C>T c.(2179-2181)Cgt>Tgt p.R727C ESPL1_ENST00000552462.1_Missense_Mutation_p.R727C NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 727 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCAGGAAGATCGTTTCCTATA 0.502000 44 32 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360014 74360014 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:74360014G>A ENST00000377044.4 - 4 1493 c.954C>T c.(952-954)gcC>gcT p.A318A TMEM2_ENST00000377066.5_Silent_p.A318A NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 318 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GACTTTTAGCGGCTGAATCCC 0.507000 72 64 0 0 1 0 0 RD3 343035 broad.mit.edu 37 1 211652399 211652399 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:211652399G>A ENST00000367002.4 - 3 1730 c.567C>T c.(565-567)ttC>ttT p.F189F RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 189 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) TGGGCGCCCGGAATTCGGGCA 0.706000 16 8 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407648 2407648 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:2407648G>A ENST00000381223.4 - 2 1316 c.1113C>T c.(1111-1113)atC>atT p.I371I DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.I371I|ZBED1_ENST00000381222.2_Silent_p.I371I NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 371 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGACCCCGGCGATGACGAACT 0.652000 21 10 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46062447 46062447 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:46062447G>A ENST00000309285.3 - 2 1349 c.993C>T c.(991-993)tcC>tcT p.S331S XCR1_ENST00000542109.1_Silent_p.S331S NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 331 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTCAGTAGAAGGAGGCGCCCT 0.642000 5 9 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2637193 2637193 + Missense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:2637193C>A ENST00000329276.5 + 9 1673 c.1157C>A c.(1156-1158)tCt>tAt p.S386Y NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 386 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GATTGCTTCTCTGGTATGGGT 0.552000 32 42 1.08312e-15 1.10617e-15 1 1 0 SCN3A 6328 broad.mit.edu 37 2 165947432 165947432 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:165947432G>A ENST00000360093.3 - 28 5722 c.5231C>T c.(5230-5232)cCa>cTa p.P1744L SCN3A_ENST00000283254.7_Missense_Mutation_p.P1744L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1695L|SCN3A_ENST00000540861.1_Missense_Mutation_p.P227L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1744 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCCAACAGATGGGTTCCCACA 0.473000 16 222 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158223 139158223 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:139158223G>A ENST00000395297.1 - 15 3689 c.3519C>T c.(3517-3519)ttC>ttT p.F1173F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1173 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGACATTAGGAAGTCCAGTT 0.438000 HNSCC(54;0.14) 7 58 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41061705 41061705 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:41061705C>T ENST00000399564.4 - 6 1032 c.582G>A c.(580-582)atG>atA p.M194I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCCACTTCTCCATTATATACC 0.483000 38 109 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279259 16279259 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:16279259G>A ENST00000343518.6 - 4 1015 c.964C>T c.(964-966)Cag>Tag p.Q322* NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 322 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ACCACTTGCTGTTTTTGCTCA 0.323000 20 617 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247509 149247509 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:149247509C>T ENST00000407073.1 + 12 4606 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P MBD5_ENST00000404807.1_Silent_p.P1436P NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1203 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGCAAAGCCCCAGAGGGGAGC 0.468000 47 121 0 0 1 0 0 ASNA1 439 broad.mit.edu 37 19 12858340 12858340 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:12858340C>T ENST00000591090.1 + 7 951 c.849C>T c.(847-849)ccC>ccT p.P283P ASNA1_ENST00000357332.3_Silent_p.P283P O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 283 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) TCGTCTTCCCCGACCCCGAGA 0.562000 11 31 0 0 1 0 0 TOMM34 10953 broad.mit.edu 37 20 43571759 43571759 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:43571759G>A ENST00000372813.3 - 7 1073 c.921C>T c.(919-921)aaC>aaT p.N307N PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 307 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) TTTAGTGTAGGTTCTGCTTCA 0.527000 18 26 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692098 106692098 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:106692098G>A ENST00000390607.2 - 0 105 TAGCAACAAGGAAAACCCAGC 0.483000 26 123 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50550613 50550613 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:50550613C>T ENST00000267845.3 - 3 708 c.306G>A c.(304-306)ttG>ttA p.L102L HDC_ENST00000543581.1_Silent_p.L102L NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 102 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGGTGAATCCCAAGCAGTTGA 0.542000 10 16 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44272529 44272529 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:44272529C>T ENST00000244571.4 - 12 1607 c.1605G>A c.(1603-1605)gtG>gtA p.V535V TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 535 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ACAGTTGCAACACCTGGGCCT 0.612000 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 32 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381466 81381466 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:81381466C>T ENST00000222390.5 - 5 821 c.595G>A c.(595-597)Gaa>Aaa p.E199K HGF_ENST00000457544.2_Missense_Mutation_p.E194K|HGF_ENST00000444829.2_Missense_Mutation_p.E199K|HGF_ENST00000423064.2_Missense_Mutation_p.E199K|HGF_ENST00000453411.1_Missense_Mutation_p.E194K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 199 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.E199K(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCACAGACTTCGTAGCGTACC 0.468000 39 76 0 0 1 0 0 RQCD1 9125 broad.mit.edu 37 2 219449406 219449406 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:219449406C>T ENST00000273064.6 + 4 767 c.392C>T c.(391-393)cCc>cTc p.P131L RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 131 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAACACGTCCCTTTGAGTAT 0.423000 106 221 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409786 79409786 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:79409786C>T ENST00000307745.7 + 9 1411 c.1411C>T c.(1411-1413)Ctc>Ttc p.L471F CCTCGACTATCTCAGCAGCGC 0.652000 26 14 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178977543 178977543 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:178977543C>T ENST00000286070.5 + 1 362 c.270C>T c.(268-270)tgC>tgT p.C90C NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 90 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) ATGGCCAGTGCCTCGGCCCCA 0.657000 22 56 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947259 37947259 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:37947259G>A ENST00000373087.6 + 4 757 c.641G>A c.(640-642)cGa>cAa p.R214Q NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 214 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACACCATCACGACGCGTGGGT 0.587000 95 65 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885802 88885802 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:88885802G>A ENST00000319675.3 - 1 494 c.398C>T c.(397-399)gCc>gTc p.A133V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 133 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ATTCAGTGAGGCCCAGCACAT 0.562000 24 71 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176147 112176147 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:112176147C>T ENST00000457016.1 + 16 5236 c.4856C>T c.(4855-4857)cCa>cTa p.P1619L CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1619L|APC_ENST00000257430.4_Missense_Mutation_p.P1619L P25054 APC_HUMAN adenomatous polyposis coli 1619 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAACTTCTACCATCACAAAAC 0.453000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 96 74 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652936 121652936 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:121652936C>T ENST00000393386.2 + 12 4247 c.3836C>T c.(3835-3837)tCc>tTc p.S1279F PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1279 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGTGAAAGTTCCCACCAAGTG 0.418000 44 147 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071280 9071280 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:9071280G>A ENST00000397910.4 - 3 16369 c.16166C>T c.(16165-16167)aCc>aTc p.T5389I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5391 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGAACTGGTTACAGACTC 0.512000 159 162 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453192 195453192 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:195453192C>T ENST00000320736.6 + 3 1331 c.1205C>T c.(1204-1206)tCc>tTc p.S402F MUC20_ENST00000447234.2_Missense_Mutation_p.S573F|MUC20_ENST00000436408.1_Missense_Mutation_p.S573F|MUC20_ENST00000445522.2_Missense_Mutation_p.S538F NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 573 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCTTCCTCCTACAGCCCC 0.587000 12 49 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81636269 81636269 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:81636269C>T ENST00000558726.1 - 14 1774 c.1639G>A c.(1639-1641)Gag>Aag p.E547K RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E546K|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 546 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AACTTGCTCTCCAGATCCCAA 0.453000 8 24 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49357016 49357016 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:49357016C>T ENST00000263265.6 - 12 1804 c.1249G>A c.(1249-1251)Ggg>Agg p.G417R PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G392R NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 417 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CAGGCCCTCCCGGGAGCCCCA 0.647000 13 9 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468963 56468963 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:56468963G>A ENST00000288221.6 - 2 328 c.73C>T c.(73-75)Cct>Tct p.P25S NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 25 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCCAAACGAGGAGACCTTGGC 0.483000 11 45 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1137238 1137238 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:1137238G>A ENST00000397203.2 + 2 575 c.169G>A c.(169-171)Gaa>Aaa p.E57K ERC1_ENST00000360905.4_Missense_Mutation_p.E57K|ERC1_ENST00000543086.3_Missense_Mutation_p.E57K|ERC1_ENST00000589028.1_Missense_Mutation_p.E57K|ERC1_ENST00000546231.2_Missense_Mutation_p.E57K|ERC1_ENST00000355446.5_Missense_Mutation_p.E57K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 57 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CCTTTCAATGGAAAATATACA 0.493000 27 65 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7285528 7285528 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:7285528G>A ENST00000361972.4 - 9 1202 c.1112C>T c.(1111-1113)cCt>cTt p.P371L SFMBT2_ENST00000397167.1_Missense_Mutation_p.P371L NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 371 regulation of transcription, DNA-dependent nucleus p.P371L(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 ACCTTTGGGAGGAGTGAGGCT 0.468000 19 45 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170345817 170345817 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:170345817C>T ENST00000523189.1 + 10 1219 c.1055C>T c.(1054-1056)cCt>cTt p.P352L NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 352 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAGGAATATCCTGAAGTTATT 0.323000 T TRD@ ALL 20 32 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677357 64677357 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:64677357G>A ENST00000421419.2 - 14 2017 c.1903C>T c.(1903-1905)Cgg>Tgg p.R635W ATG2A_ENST00000377264.3_Missense_Mutation_p.R635W Q2TAZ0 ATG2A_HUMAN autophagy related 2A 635 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCAGAGAGCCGAAATACCGTC 0.711000 17 14 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34046353 34046353 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:34046353C>T ENST00000373381.4 - 48 7563 c.7387_splice c.e48+1 p.A2463_splice NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2465 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTTCACTCACCTGAATAGCGG 0.532000 17 66 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545975 234545975 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:234545975G>A ENST00000344644.5 + 1 876 c.807G>A c.(805-807)atG>atA p.M269I UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269I|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGCCCAACATGATCTTCATTG 0.428000 269 308 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001351 52001351 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:52001351C>T ENST00000291707.3 - 5 1381 c.1326G>A c.(1324-1326)ggG>ggA p.G442G SIGLEC12_ENST00000598614.1_Silent_p.G324G NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 442 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGGTGAATTCCCCTTCATCCT 0.612000 9 33 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005573 101005573 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:101005573G>A ENST00000556751.1 - 5 3727 c.323C>T c.(322-324)cCg>cTg p.P108L CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P172L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P172L Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 172 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GGCGTAGGCCGGGTGGCAGAG 0.701000 4 19 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324415 31324415 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:31324415C>T ENST00000269197.5 + 12 4603 c.4603C>T c.(4603-4605)Cac>Tac p.H1535Y NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGGTATAGATCACAGTTCCAC 0.527000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 19 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319301 123319301 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:123319301G>A ENST00000275162.4 + 2 1714 c.379G>A c.(379-381)Gat>Aat p.D127N CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 127 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TGCCAATTGGGATCAGAGCAG 0.468000 34 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438160 179438160 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:179438160A>G ENST00000589042.1 - 326 72923 c.72699T>C c.(72697-72699)acT>acC p.T24233T TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T22592T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.T21665T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.T15293T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T15168T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T15360T|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22592 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTAGTAATAGTTGTCACTT 0.458000 45 103 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169423093 169423093 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:169423093C>T ENST00000256935.8 + 30 3077 c.2997C>T c.(2995-2997)gtC>gtT p.V999V DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.V60V|DOCK2_ENST00000520908.1_Silent_p.V491V NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 999 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCCAGGGTCTTCCTGAGAG 0.458000 29 24 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198273222 198273222 + Nonsense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:198273222C>A ENST00000335508.5 - 8 1079 c.988G>T c.(988-990)Gga>Tga p.G330* NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 330 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTACTGGCTCCAGGAGTCGGT 0.493000 Mis myelodysplastic syndrome 44 71 9.84934e-19 1.00708e-18 1 1 0 ZMYM1 79830 broad.mit.edu 37 1 35577697 35577697 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:35577697C>T ENST00000373330.1 + 10 1286 c.1112C>T c.(1111-1113)tCt>tTt p.S371F ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S371F Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 371 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GATACAGTTTCTTCAGTAACA 0.269000 70 37 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71415364 71415364 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:71415364G>A ENST00000392650.3 - 16 2127 c.2127C>T c.(2125-2127)atC>atT p.I709I SDK2_ENST00000388726.3_Silent_p.I709I NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 709 Fibronectin type-III 2. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCTGCCACTGGATCATGATGG 0.612000 7 20 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114123243 114123243 + Silent SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:114123243G>T ENST00000369615.1 + 3 575 c.513G>T c.(511-513)ctG>ctT p.L171L MAGI3_ENST00000307546.9_Silent_p.L171L|MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Silent_p.L171L|MAGI3_ENST00000369611.4_Silent_p.L171L NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 171 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAAAGCACTGGAAGAGAGTG 0.398000 88 67 1.7318e-42 1.78767e-42 1 1 0 HYDIN 54768 broad.mit.edu 37 16 71218810 71218810 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:71218810C>T ENST00000393567.2 - 3 369 c.219G>A c.(217-219)caG>caA p.Q73Q HYDIN_ENST00000321489.5_Silent_p.Q73Q|HYDIN_ENST00000393550.2_Silent_p.Q73Q|HYDIN_ENST00000288168.10_Silent_p.Q90Q|HYDIN_ENST00000448089.2_Silent_p.Q73Q|HYDIN_ENST00000541601.1_Silent_p.Q90Q|HYDIN_ENST00000448691.1_Silent_p.Q73Q|HYDIN_ENST00000538248.1_Silent_p.Q100Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 73 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTTCGATGATCTGTGGTCGGC 0.458000 34 88 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120387881 120387881 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:120387881G>A ENST00000331113.4 + 6 2827 c.1862G>A c.(1861-1863)gGa>gAa p.G621E RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 621 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GAGTACTCAGGAGGAAATATT 0.423000 47 26 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35044091 35044091 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:35044091G>A ENST00000312292.5 + 2 1512 c.1465G>A c.(1465-1467)Gga>Aga p.G489R C9orf131_ENST00000421362.2_Missense_Mutation_p.G441R|C9orf131_ENST00000354479.5_Missense_Mutation_p.G416R NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 489 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GGGCCCCCAGGGAGTCCTGTC 0.537000 68 24 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91365699 91365699 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:91365699G>A ENST00000261172.3 - 5 672 c.580C>T c.(580-582)Cga>Tga p.R194* NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 194 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 ACAAGCTCTCGAAGTTGAGGC 0.373000 23 16 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101652558 101652558 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:101652558G>A ENST00000409318.1 - 9 1655 c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C TBC1D8_ENST00000376840.4_Missense_Mutation_p.R494C NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 494 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TTCTCTGTGCGAAACATACAC 0.468000 61 141 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947433 165947433 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:165947433G>A ENST00000360093.3 - 28 5721 c.5230C>T c.(5230-5232)Cca>Tca p.P1744S SCN3A_ENST00000283254.7_Missense_Mutation_p.P1744S|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1695S|SCN3A_ENST00000540861.1_Missense_Mutation_p.P227S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1744 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCAACAGATGGGTTCCCACAG 0.478000 17 220 0 0 1 0 0 KDELC2 143888 broad.mit.edu 37 11 108352044 108352044 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:108352044C>T ENST00000434945.2 - 4 1095 c.793G>A c.(793-795)Gag>Aag p.E265K KDELC2_ENST00000375648.1_Missense_Mutation_p.E265K|KDELC2_ENST00000323468.5_Missense_Mutation_p.E321K|KDELC2_ENST00000532730.1_Intron Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 321 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TGGAGCCTCTCCTCTCGGCTG 0.408000 71 30 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637291 39637291 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:39637291C>T ENST00000393989.1 - 1 101 c.59G>A c.(58-60)gGg>gAg p.G20E KRT35_ENST00000246639.2_5'UTR NM_002280.4 NP_002271.3 Q92764 KRT35_HUMAN keratin 35 20 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCACTGGCCCCTCCTGGGCT 0.577000 38 55 0 0 1 0 0 ABCA17P 650655 broad.mit.edu 37 16 2436231 2436231 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:2436231G>A ENST00000469908.1 + 0 1486 NR_003574.1 GCTCTCCATCGGCATCGCCCT 0.657000 26 33 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38753769 38753769 + Silent SNP C C T rs149883899 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:38753769C>T ENST00000449082.2 - 22 3971 c.3972G>A c.(3970-3972)tcG>tcA p.S1324S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1324 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TATTCACAATCGACAAAGGTA 0.443000 80 72 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279029 36279029 + Missense_Mutation SNP T T G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:36279029T>G ENST00000007510.4 + 21 3706 c.3562T>G c.(3562-3564)Tcc>Gcc p.S1188A ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1024A|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1027A O14559 RHG33_HUMAN Rho GTPase activating protein 33 1188 Poly-Ser. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CTCCTCCTCTTCCCCTCCTGC 0.687000 20 26 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006368 16006368 + Silent SNP G G A rs139580343 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:16006368G>A ENST00000221700.5 - 3 386 c.291C>T c.(289-291)ccC>ccT p.P97P CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 97 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AACTGAGGAGGGGGGAGATGG 0.592000 47 132 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081855 54081855 + Silent SNP G G C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:54081855G>C ENST00000394705.2 - 2 309 c.39C>G c.(37-39)gcC>gcG p.A13A ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 13 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGAGCGAGGTGGCATTGGGGG 0.532000 39 109 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100364799 100364799 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:100364799C>T ENST00000542585.1 + 0 4927 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCGGGGGGATCCTGGAGGTCT 0.577000 33 29 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904021 56904021 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:56904021C>T ENST00000438926.2 + 5 644 c.615C>T c.(613-615)ttC>ttT p.F205F SLC12A3_ENST00000566786.1_Silent_p.F204F|SLC12A3_ENST00000262502.5_Silent_p.F204F|SLC12A3_ENST00000563236.1_Silent_p.F205F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 205 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCACCTACTTCCTCATCTCCC 0.627000 26 93 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156934110 156934110 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:156934110G>A ENST00000257527.4 - 10 1022 c.944C>T c.(943-945)cCc>cTc p.P315L ADAM19_ENST00000517905.1_Missense_Mutation_p.P315L|ADAM19_ENST00000430702.2_Missense_Mutation_p.P48L|ADAM19_ENST00000394020.1_Missense_Mutation_p.P317L NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 315 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCCATGAGGGGGGCCAGGCC 0.617000 34 40 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41744430 41744430 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:41744430C>T ENST00000301178.4 + 8 1240 c.1050C>T c.(1048-1050)ttC>ttT p.F350F AXL_ENST00000593513.1_Silent_p.F82F|AXL_ENST00000359092.3_Silent_p.F350F NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 350 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCCAGGCCTTCGTGCATTGGC 0.657000 13 29 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216371 20216371 + Missense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:20216371C>A ENST00000331723.1 + 1 785 c.785C>A c.(784-786)cCt>cAt p.P262H NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATTTGAGGCCTTTCTGCAGC 0.458000 15 179 1.37285e-15 1.40041e-15 1 1 0 UTP11L 51118 broad.mit.edu 37 1 38489261 38489261 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:38489261C>T ENST00000373014.4 + 8 784 c.723C>T c.(721-723)tcC>tcT p.S241S UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 241 S -> F (in Ref. 2; AAF75562). induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGGTGAACTCCCCAGCTATTT 0.348000 67 44 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6094763 6094763 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:6094763G>A ENST00000261405.5 - 39 7121 c.6867C>T c.(6865-6867)gtC>gtT p.V2289V NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2289 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TTGTGCAGTTGACCTTCCGCC 0.642000 5 20 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236282 33236282 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:33236282C>T ENST00000401073.2 + 6 1572 c.1502C>T c.(1501-1503)cCc>cTc p.P501L KIAA1522_ENST00000373481.3_Missense_Mutation_p.P453L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P442L NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 442 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCACCCCCTCCCCGCCGGACC 0.647000 8 21 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662995 40662995 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:40662995C>T ENST00000454349.2 + 5 2972 c.2761C>T c.(2761-2763)Cga>Tga p.R921* TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.R921*|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 921 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCCAGCACCTCGAGAACCAAA 0.478000 6 20 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146032131 146032131 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:146032131C>T ENST00000296577.4 + 8 1140 c.625C>T c.(625-627)Cta>Tta p.L209L ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 209 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) TTTAACCCACCTAAAAGAACG 0.373000 55 44 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12937721 12937721 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:12937721G>A ENST00000218032.6 + 2 649 c.562G>A c.(562-564)Gag>Aag p.E188K TLR8_ENST00000311912.5_Missense_Mutation_p.E206K NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 188 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAAAGTTTGCGAGAAAACTAA 0.348000 62 9 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528438 20528438 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:20528438C>T ENST00000315683.1 + 1 235 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGCCACAACACCCAAGATGAT 0.473000 126 95 0 0 1 0 0 OR1J1 347168 broad.mit.edu 37 9 125240020 125240020 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:125240020G>A ENST00000259357.2 - 1 215 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AGTGGCTAAGGAAGAAGTACA 0.527000 82 88 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762529 43762529 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:43762529C>T ENST00000244293.7 - 4 855 c.789G>A c.(787-789)acG>acA p.T263T PSG9_ENST00000593948.1_Silent_p.T263T|PSG9_ENST00000443718.3_Silent_p.T263T|PSG9_ENST00000291752.5_Silent_p.T170T|PSG9_ENST00000270077.3_Silent_p.T356T|PSG9_ENST00000596730.1_Silent_p.T170T|PSG9_ENST00000418820.2_Silent_p.T263T Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 261 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGTTAGATTCCGTGAAGCAGG 0.438000 70 227 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6969551 6969551 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:6969551C>T ENST00000229268.8 + 11 1292 c.1240C>T c.(1240-1242)Cct>Tct p.P414S USP5_ENST00000389231.5_Missense_Mutation_p.P414S NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 414 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TGGCATTGCCCCTCGGATGTT 0.572000 20 61 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139906979 139906979 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:139906979G>A ENST00000265662.5 - 32 5292 c.5145C>T c.(5143-5145)gcC>gcT p.A1715A ABCA2_ENST00000371605.3_Silent_p.A1714A|ABCA2_ENST00000341511.6_Silent_p.A1715A Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1714 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCATGGGTGGGGCCCTGGTGC 0.687000 16 29 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227843393 227843393 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:227843393G>A ENST00000343776.4 + 4 1787 c.1442G>A c.(1441-1443)aGa>aAa p.R481K ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R536K F5GXA7 F5GXA7_HUMAN zinc finger protein 678 536 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CGTCATAAAAGAATTCATACT 0.353000 72 45 0 0 1 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526522 234526522 + Missense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:234526522G>T ENST00000373450.4 + 1 232 c.169G>T c.(169-171)Gta>Tta p.V57L NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGAGGTGGTTGTAGTCATGCC 0.522000 95 121 7.79919e-48 8.06041e-48 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103471393 103471393 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:103471393C>T ENST00000358392.2 - 18 2199 c.e18+1 COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGTATCTTACCCTGTGACCT 0.338000 116 72 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152193200 152193200 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:152193200C>T ENST00000368801.2 - 3 980 c.905G>A c.(904-906)gGa>gAa p.G302E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 302 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCGAGATCCAGACCCTTG 0.602000 223 119 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157511279 157511279 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:157511279T>C ENST00000346085.5 + 15 3798 c.3797T>C c.(3796-3798)aTg>aCg p.M1266T ARID1B_ENST00000350026.5_Missense_Mutation_p.M1253T|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1248T|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1306T NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1253 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGCATGAGCATGCCCGATGTG 0.567000 9 118 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108920197 108920197 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:108920197C>T ENST00000228284.3 - 16 2283 c.2049G>A c.(2047-2049)gaG>gaA p.E683E SART3_ENST00000431469.2_Silent_p.E647E NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 683 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 AGGCTGCCTTCTCCTTCTGCT 0.577000 Porokeratosis 22 71 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68111238 68111238 + Silent SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:68111238A>G ENST00000262215.3 - 39 5870 c.5481T>C c.(5479-5481)ttT>ttC p.F1827F ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1827 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CGATTCGCAGAAAAAATCTTC 0.358000 20 80 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862219 25862219 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:25862219G>A ENST00000397060.4 - 4 451 c.342C>T c.(340-342)atC>atT p.I114I SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 0 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CACCAAAGATGATGCCTTGGA 0.453000 5 14 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40972550 40972550 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:40972550A>G ENST00000313164.9 + 15 2287 c.1928A>G c.(1927-1929)cAc>cGc p.H643R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 643 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATACAGAGTCACCCCCAAAAA 0.443000 19 55 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084082 31084082 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:31084082G>A ENST00000376288.2 - 2 1336 c.1310C>T c.(1309-1311)tCc>tTc p.S437F PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 437 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 ACTGGATTGGGAACTGGAGCT 0.592000 5 21 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79411977 79411977 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:79411977C>T ENST00000370742.3 - 3 370 c.307G>A c.(307-309)Gat>Aat p.D103N NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 103 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACGGTTCCATCATTAGTGATA 0.358000 19 77 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103803508 103803508 + Missense_Mutation SNP G G A rs137964558 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:103803508G>A ENST00000216554.3 + 6 1059 c.383G>A c.(382-384)cGa>cAa p.R128Q EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.R128Q|EIF5_ENST00000558506.1_Missense_Mutation_p.R128Q NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 128 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) TGTGGCTATCGAGGCATGCTT 0.363000 21 69 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135439 126135439 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:126135439C>T ENST00000299308.3 + 7 1847 c.1839C>T c.(1837-1839)atC>atT p.I613I TMEM132B_ENST00000535886.1_Silent_p.I125I NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 613 integral to membrane p.I613I(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCCGAAAATCGCTCAGTTAC 0.592000 11 38 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766382 88766382 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:88766382C>T ENST00000497649.2 + 6 668 c.290C>T c.(289-291)aCt>aTt p.T97I MEPE_ENST00000560249.1_Missense_Mutation_p.T8I|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.T121I|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.T121I|MEPE_ENST00000395102.4_Missense_Mutation_p.T152I|MEPE_ENST00000540395.1_Missense_Mutation_p.T8I Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 121 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CCTAAGTCAACTGGGAATAAA 0.358000 23 84 0 0 1 0 0 FAM41C 284593 broad.mit.edu 37 1 809577 809577 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:809577C>T ENST00000446136.1 - 0 1116 NR_027055.1 CAAGGCCTTCCTCCATTGGTA 0.498000 47 195 0 0 1 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149777834 149777834 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:149777834C>T ENST00000389942.5 - 4 895 c.648G>A c.(646-648)caG>caA p.Q216Q ZC3H12D_ENST00000542614.1_Silent_p.Q216Q|ZC3H12D_ENST00000416573.2_Silent_p.Q216Q|ZC3H12D_ENST00000409806.3_Silent_p.Q216Q A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 216 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TGAGCAGCCTCTGCTCGATGA 0.667000 19 43 0 0 1 0 0 C20orf166 128826 broad.mit.edu 37 20 61167716 61167716 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:61167716C>T ENST00000370527.3 + 4 965 c.186C>T c.(184-186)ctC>ctT p.L62L C20orf166_ENST00000370523.1_Silent_p.L44L|C20orf166_ENST00000370524.2_Silent_p.L44L NM_178463.3 NP_848558.1 Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 62 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) AAATTCTTCTCTTTGTCAATG 0.483000 19 23 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166818659 166818659 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:166818659C>T ENST00000367875.1 + 5 1203 c.843C>T c.(841-843)acC>acT p.T281T POGK_ENST00000536514.1_Silent_p.T196T|POGK_ENST00000537173.1_Silent_p.T163T|POGK_ENST00000367876.4_Silent_p.T281T Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 281 HTH CENPB-type. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 ACCCCATCACCCGGGAGGCGA 0.557000 20 65 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156834553 156834553 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:156834553G>A ENST00000368196.3 + 3 441 c.321G>A c.(319-321)gcG>gcA p.A107A NTRK1_ENST00000524377.1_Silent_p.A107A|NTRK1_ENST00000392302.2_Silent_p.A77A|NTRK1_ENST00000358660.3_Silent_p.A107A NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 107 A -> V (in an ovarian serous carcinoma sample; somatic mutation). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTTTCGTGGCGCCAGATGCCT 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 6 37 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 27 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647337 20647337 + Silent SNP C C T rs140649204 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:20647337C>T ENST00000272233.4 + 1 503 c.111C>T c.(109-111)acC>acT p.T37T NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 37 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) ACGTGCCCACCGTCTTCGAGA 0.647000 36 59 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1538236 1538236 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:1538236C>T ENST00000381623.3 - 1 1253 c.64G>A c.(64-66)Gaa>Aaa p.E22K SIRPD_ENST00000381621.1_Missense_Mutation_p.E22K|RP4-576H24.4_ENST00000564763.1_Intron Q9H106 SIRPD_HUMAN signal-regulatory protein delta 22 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CCTGCCAGTTCAAGCAGCAGA 0.542000 38 51 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167053 76167053 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:76167053C>T ENST00000225777.3 + 2 314 c.255C>T c.(253-255)ttC>ttT p.F85F SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Silent_p.F85F|SYNGR2_ENST00000588282.1_Silent_p.F85F|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Silent_p.F29F O43760 SNG2_HUMAN synaptogyrin 2 85 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CGGCCTTCTTCTTGGTGGTCG 0.587000 54 122 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130762252 130762252 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:130762252G>A ENST00000276708.4 - 12 2078 c.1197C>T c.(1195-1197)ctC>ctT p.L399L NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 399 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TGGCTTCAAGGAGATAAAGAA 0.458000 9 24 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150443209 150443209 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:150443209G>A ENST00000389378.2 - 3 824 c.236C>T c.(235-237)tCc>tTc p.S79F TNIP1_ENST00000518977.1_Missense_Mutation_p.S79F|TNIP1_ENST00000523200.1_Missense_Mutation_p.S79F|TNIP1_ENST00000315050.7_Missense_Mutation_p.S79F|TNIP1_ENST00000524280.1_Missense_Mutation_p.S79F|TNIP1_ENST00000523338.1_Missense_Mutation_p.S79F|TNIP1_ENST00000522226.1_Missense_Mutation_p.S79F|TNIP1_ENST00000520931.1_Missense_Mutation_p.S26F|TNIP1_ENST00000521591.1_Missense_Mutation_p.S79F NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 79 defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCCCAAGGAGGGAGAAGG 0.582000 10 37 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20611688 20611688 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:20611688G>A ENST00000504154.1 + 34 3997 c.3745G>A c.(3745-3747)Gat>Aat p.D1249N SLIT2_ENST00000273739.5_Missense_Mutation_p.D1262N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1241N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1245N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1249 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACTTGCCTTGGATCAGAGTCT 0.408000 90 45 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583745 82583745 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:82583745G>A ENST00000423517.2 - 5 6861 c.6524C>T c.(6523-6525)tCt>tTt p.S2175F PCLO_ENST00000333891.8_Missense_Mutation_p.S2175F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2106 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 GGGTGGGACAGATGTAGCACT 0.438000 76 50 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854808 79854808 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:79854808G>A ENST00000338682.3 - 5 1703 c.1031C>T c.(1030-1032)cCa>cTa p.P344L NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 344 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GTTAGAATCTGGGTCCTGGTC 0.408000 20 55 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150049259 150049259 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:150049259C>T ENST00000369130.3 + 6 1072 c.526C>T c.(526-528)Cgt>Tgt p.R176C VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 176 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCATGATTCGTTATCAGCT 0.428000 38 137 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72691188 72691188 + Silent SNP C C T rs142190891 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:72691188C>T ENST00000341689.3 + 2 330 c.276C>T c.(274-276)taC>taT p.Y92Y TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 92 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTGAGCTCTACGCAGGACTCT 0.537000 50 54 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105843125 105843125 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:105843125C>T ENST00000447393.1 + 9 997 c.822C>T c.(820-822)gaC>gaT p.D274D PACS2_ENST00000458164.2_Silent_p.D274D|PACS2_ENST00000325438.8_Silent_p.D274D|PACS2_ENST00000547217.1_Silent_p.D244D|PACS2_ENST00000430725.2_Silent_p.D199D NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 274 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CGGAGCAGGACCCTGCGGAGC 0.677000 9 28 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967638 4967638 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:4967638G>A ENST00000380373.2 - 1 718 c.693C>T c.(691-693)tcC>tcT p.S231S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTCCTTTTTGGATGCAATTC 0.453000 53 22 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1281305 1281305 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:1281305C>T ENST00000381867.1 + 6 1032 c.390C>T c.(388-390)atC>atT p.I130I SNPH_ENST00000381873.3_Silent_p.I86I O15079 SNPH_HUMAN syntaphilin 86 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGGTGTGCATCCGGCACCTGA 0.657000 18 23 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356795 42356795 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:42356795C>T ENST00000554171.1 + 5 3399 c.967C>T c.(967-969)Cct>Tct p.P323S LRFN5_ENST00000298119.4_Missense_Mutation_p.P323S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P323S Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 323 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGGATTTCTCCTGAAGGGAA 0.453000 HNSCC(30;0.082) 75 53 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239411 65239411 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:65239411C>T ENST00000389722.3 - 25 5493 c.5440G>A c.(5440-5442)Gac>Aac p.D1814N SPTB_ENST00000389721.5_Missense_Mutation_p.D1814N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1814N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1814N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1814N NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1814 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGCTTCTCGTCGATGAGGCCC 0.662000 13 35 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81700486 81700486 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:81700486C>T ENST00000372292.3 - 7 766 c.726G>A c.(724-726)caG>caA p.Q242Q NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 242 cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) AGAAAGCAGCCTGGAGGTGCT 0.522000 16 31 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106989481 106989481 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:106989481C>T ENST00000369066.3 + 8 4129 c.3642C>T c.(3640-3642)ttC>ttT p.F1214F AIM1_ENST00000535438.1_Silent_p.F33F NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1214 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAGTTGAATTCCCTACAGATC 0.264000 33 25 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3240315 3240315 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:3240315C>T ENST00000355072.5 + 65 9178 c.9033C>T c.(9031-9033)ttC>ttT p.F3011F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 3011 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACCCCCAGTTCATGGCCACCG 0.557000 38 27 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382136 41382136 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:41382136C>T ENST00000377801.3 - 2 678 c.604G>A c.(604-606)Gaa>Aaa p.E202K PLCXD3_ENST00000328457.3_Missense_Mutation_p.E202K Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 202 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AAGGGCACTTCCAGAGCCACT 0.507000 44 51 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428870 10428870 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:10428870C>T ENST00000245503.5 - 32 4819 c.4435G>A c.(4435-4437)Gag>Aag p.E1479K MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1479K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1479 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GAACGGGCCTCCTTCTGGGAG 0.468000 47 19 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35422879 35422879 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:35422879G>A ENST00000237536.4 - 14 3947 c.3606C>T c.(3604-3606)tcC>tcT p.S1202S SOGA1_ENST00000456801.2_Silent_p.S805S|SOGA1_ENST00000357779.3_Silent_p.S964S|SOGA1_ENST00000279034.5_Silent_p.S964S NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 964 p.S1202S(3)|p.S964S(1) endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCCCTGGCTCGGAGCTCACAA 0.607000 41 36 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003875 50003875 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:50003875A>G ENST00000335238.4 - 1 196 c.163T>C c.(163-165)Tcc>Ccc p.S55P NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TACATGGGGGAGCTCAGAGCC 0.423000 34 12 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005574 101005574 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:101005574G>A ENST00000556751.1 - 5 3726 c.322C>T c.(322-324)Ccg>Tcg p.P108S CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P172S|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P172S Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 172 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCGTAGGCCGGGTGGCAGAGC 0.701000 4 20 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176696738 176696738 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:176696738C>T ENST00000439151.2 + 16 5484 c.5439C>T c.(5437-5439)ttC>ttT p.F1813F NSD1_ENST00000361032.4_Silent_p.F1710F|NSD1_ENST00000354179.4_Silent_p.F1544F|NSD1_ENST00000347982.4_Silent_p.F1544F NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1813 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) CCCGAGTCTTCCCTTACATGG 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 54 43 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173782552 173782552 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:173782552G>A ENST00000264111.6 + 5 654 c.467G>A c.(466-468)gGa>gAa p.G156E RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G156E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G156E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G12E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G3E|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 156 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TATATGGCAGGACTTCTGGCT 0.348000 96 115 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493499 20493499 + Silent SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:20493499T>C ENST00000504154.1 + 9 1143 c.891T>C c.(889-891)aaT>aaC p.N297N SLIT2_ENST00000273739.5_Silent_p.N301N|SLIT2_ENST00000503823.1_Silent_p.N297N|SLIT2_ENST00000503837.1_Silent_p.N301N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 297 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCCCCACAAATCTTCCAGAGA 0.463000 33 98 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 369886 369886 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:369886C>T ENST00000256509.2 + 5 876 c.234C>T c.(232-234)ttC>ttT p.F78F CHL1_ENST00000397491.2_Silent_p.F78F NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 78 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTTTTATTTCACTGACCATC 0.363000 31 105 0 0 1 0 0 RPS18 6222 broad.mit.edu 37 6 33240442 33240442 + Missense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:33240442G>T ENST00000439602.2 + 2 151 c.41G>T c.(40-42)cGa>cTa p.R14L RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR P62269 RS18_HUMAN ribosomal protein S18 14 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 CATATTTTGCGAGTACTCAAC 0.428000 35 99 9.04072e-19 9.25495e-19 1 1 0 MPI 4351 broad.mit.edu 37 15 75190017 75190017 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:75190017G>A ENST00000352410.4 + 8 1285 c.1218G>A c.(1216-1218)ctG>ctA p.L406L MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Silent_p.L386L|MPI_ENST00000323744.6_Silent_p.L345L|MPI_ENST00000535694.1_Silent_p.L356L P34949 MPI_HUMAN mannose phosphate isomerase 406 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GTGTCTCACTGAAGCTTACTG 0.562000 40 25 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28791722 28791722 + Nonsense_Mutation SNP G G T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:28791722G>T ENST00000225719.4 + 21 4109 c.4033G>T c.(4033-4035)Gaa>Taa p.E1345* CPD_ENST00000543464.2_Nonsense_Mutation_p.E1098* NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1345 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TGATGAGTATGAAGATGAAAT 0.428000 194 136 2.46588e-86 2.55458e-86 1 1 0 SETD2 29072 broad.mit.edu 37 3 47125335 47125335 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:47125335G>A ENST00000409792.3 - 12 5977 c.5935C>T c.(5935-5937)Cca>Tca p.P1979S SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1979 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTTGGGATGGTGTTTCTTCA 0.443000 """N, F, S, Mis""" clear cell renal carcinoma 55 115 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39485688 39485688 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:39485688C>T ENST00000263881.3 - 30 2673 c.2349G>A c.(2347-2349)gaG>gaA p.E783E MAP4K3_ENST00000341681.5_Silent_p.E762E|MAP4K3_ENST00000437545.1_Silent_p.E699E|MAP4K3_ENST00000536018.1_Silent_p.E336E NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 783 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TGGTATCTCTCTCCAGTTGGG 0.328000 58 67 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543410 141543410 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:141543410C>T ENST00000442267.2 - 21 3814 c.3740G>A c.(3739-3741)cGg>cAg p.R1247Q NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1247 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GCCCATCATCCGGATGTTTTT 0.597000 13 48 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388965 48388965 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:48388965G>A ENST00000224600.4 - 1 2026 c.1913C>T c.(1912-1914)gCc>gTc p.A638V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 638 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CTCCACCAAGGCCCCCAGGCT 0.692000 8 14 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720490 95720490 + RNA SNP C C T rs12570608 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:95720490C>T ENST00000480546.1 - 0 807 NR_002319.2 AGAGGCTTCTCTCGCTCTTTC 0.453000 6 54 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156810788 156810788 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:156810788G>A ENST00000368195.3 - 22 4167 c.3771C>T c.(3769-3771)ctC>ctT p.L1257L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1257 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTAGAAGGAGAGGAGGCGGA 0.647000 5 17 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152293789 152293789 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:152293789C>T ENST00000243326.4 + 12 1890 c.1407C>T c.(1405-1407)tcC>tcT p.S469S RIF1_ENST00000453091.2_Silent_p.S469S|RIF1_ENST00000444746.2_Silent_p.S469S|RIF1_ENST00000428287.2_Silent_p.S469S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000430328.2_Silent_p.S469S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 469 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCAGCCCTTCCTTTTTTTCCA 0.338000 50 105 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7060894 7060894 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:7060894G>A ENST00000456013.1 + 2 373 c.131_splice c.e2+1 p.R44_splice PTPN6_ENST00000318974.9_Splice_Site_p.R44_splice|PTPN6_ENST00000399448.1_Splice_Site_p.R46_splice|PTPN6_ENST00000447931.2_Intron NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 44 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 CTCTCCGTCAGGTAGGTGGGC 0.642000 37 39 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473535 19473535 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:19473535G>A ENST00000507958.1 - 15 3163 c.2173C>T c.(2173-2175)Cta>Tta p.L725L CDH18_ENST00000382275.1_Silent_p.L725L|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Silent_p.L725L Q13634 CAD18_HUMAN cadherin 18, type 2 725 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTAGGGTCTAGGTCTGCTTCT 0.493000 36 42 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202235 39202235 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:39202235G>A ENST00000351578.6 - 2 1018 c.828C>T c.(826-828)tcC>tcT p.S276S FYB_ENST00000540520.1_Silent_p.S286S|FYB_ENST00000512982.1_Silent_p.S276S|FYB_ENST00000515010.1_Silent_p.S276S|FYB_ENST00000505428.1_Silent_p.S276S NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 276 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CACCATTTTTGGAGAGACCTG 0.463000 37 72 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023495 28023495 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:28023495C>T ENST00000375790.5 - 5 1160 c.728G>A c.(727-729)gGa>gAa p.G243E MKX_ENST00000419761.1_Missense_Mutation_p.G243E Q8IYA7 MKX_HUMAN mohawk homeobox 243 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CCTTGTTTTTCCCATCATGGT 0.448000 36 59 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580887 234580887 + Missense_Mutation SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:234580887C>G ENST00000354728.4 + 1 389 c.307C>G c.(307-309)Cga>Gga p.R103G UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) AGCACAAGTACGAAGTATATA 0.348000 84 88 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20142942 20142942 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:20142942A>T ENST00000263754.4 + 5 1288 c.833A>T c.(832-834)tAc>tTc p.Y278F NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 278 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 ATTTCTGGATACAAAGAGAAC 0.408000 19 90 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371363 126371363 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:126371363G>A ENST00000394329.3 + 9 9205 c.9192G>A c.(9190-9192)aaG>aaA p.K3064K FAT4_ENST00000335110.5_Silent_p.K1362K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3064 Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAAGGATAAGGGAAACCCTC 0.418000 75 44 0 0 1 0 0 TEX26 122046 broad.mit.edu 37 13 31531168 31531168 + Splice_Site SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr13:31531168T>A ENST00000380473.3 + 4 482 c.e4+2 TEX26_ENST00000530916.1_Splice_Site NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 GATCAAAAGGTAAACACTTTT 0.423000 27 22 0 0 1 0 0 CELF1 10658 broad.mit.edu 37 11 47505053 47505053 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:47505053G>A ENST00000395290.2 - 5 483 c.474C>T c.(472-474)gcC>gcT p.A158A CELF1_ENST00000361904.3_Silent_p.A159A|CELF1_ENST00000531165.1_Silent_p.A186A|CELF1_ENST00000310513.5_Silent_p.A159A|CELF1_ENST00000358597.3_Silent_p.A159A|CELF1_ENST00000395292.2_Silent_p.A159A|CELF1_ENST00000532048.1_Silent_p.A185A NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 159 RRM 2. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 TCTGTGCCATGGCTCTTGTTG 0.458000 86 44 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49005893 49005893 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:49005893C>T ENST00000226432.4 + 7 1127 c.944C>T c.(943-945)aCc>aTc p.T315I CWH43_ENST00000513409.1_Missense_Mutation_p.T288I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 315 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CCTGGGAAAACCATGACCATT 0.458000 22 87 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50535170 50535170 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:50535170C>T ENST00000267845.3 - 12 1678 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K HDC_ENST00000543581.1_Missense_Mutation_p.E393K NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 426 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TTAGCTATTTCCTTTAACACA 0.473000 20 61 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348796 348796 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:348796G>A ENST00000604971.1 + 4 1267 c.154G>A c.(154-156)Gga>Aga p.G52R DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.G52R|DUSP22_ENST00000419235.2_Missense_Mutation_p.G155R|DUSP22_ENST00000344450.5_Missense_Mutation_p.G155R|DUSP22_ENST00000605315.1_Missense_Mutation_p.G52R Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 155 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GGAAGAATATGGAGAGAGCCC 0.552000 21 74 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108117950 108117950 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:108117950G>A ENST00000273353.3 - 35 5017 c.4961C>T c.(4960-4962)tCc>tTc p.S1654F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1654 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTGGCCCAGGGATTTGGTTGC 0.468000 23 55 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398207 89398207 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:89398207G>A ENST00000439576.2 + 12 2765 c.2391G>A c.(2389-2391)gaG>gaA p.E797E ACAN_ENST00000561243.1_Silent_p.E797E|ACAN_ENST00000559004.1_Silent_p.E797E|ACAN_ENST00000352105.7_Silent_p.E797E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 797 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCCCCTCAGAGGAGCCATCCC 0.602000 3 7 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117609896 117609896 + Missense_Mutation SNP T T G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:117609896T>G ENST00000368508.3 - 43 7001 c.6803A>C c.(6802-6804)aAc>aCc p.N2268T ROS1_ENST00000368507.3_Missense_Mutation_p.N2262T NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2268 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCCTTCTCGGTTCTTCGTTTC 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 28 28 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138587 126138587 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:126138587G>A ENST00000299308.3 + 9 2576 c.2568G>A c.(2566-2568)ggG>ggA p.G856G TMEM132B_ENST00000535886.1_Silent_p.G368G NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 856 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCATGGAAGGGAAGAATAAGT 0.517000 42 20 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166852531 166852531 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:166852531G>A ENST00000423058.2 - 24 4590 c.4573C>T c.(4573-4575)Cga>Tga p.R1525* SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1514*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1497*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1525*|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1525 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACTCCTGGTCGAGGTATAGGC 0.338000 31 67 0 0 1 0 0 IGLL1 3543 broad.mit.edu 37 22 23915667 23915667 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:23915667C>T ENST00000330377.2 - 3 545 c.428G>A c.(427-429)gGa>gAa p.G143E AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 143 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 CGTCAAGATTCCCGGATAAAA 0.587000 35 58 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947138 150947138 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:150947138T>C ENST00000261800.5 - 1 1367 c.1355A>G c.(1354-1356)aAc>aGc p.N452S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 452 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCATGGTTGTTGCAGTCCAC 0.552000 51 36 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156746841 156746841 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:156746841G>A ENST00000347377.6 + 14 1859 c.1428G>A c.(1426-1428)agG>agA p.R476R CYFIP2_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 476 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGCCATCAGGAACACCATCT 0.597000 31 87 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812740 141812740 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:141812740C>T ENST00000389484.3 - 10 2468 c.1497G>A c.(1495-1497)cgG>cgA p.R499R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 499 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGCGACAAGTCCGAGTTTTGT 0.453000 TSP Lung(27;0.18) 28 61 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104081986 104081986 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:104081986G>A ENST00000388887.2 + 28 3242 c.3038G>A c.(3037-3039)tGg>tAg p.W1013* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1013 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTTAACCGATGGATAAATGTG 0.373000 73 47 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89307482 89307482 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:89307482C>T ENST00000338104.6 + 4 453 c.401C>T c.(400-402)aCc>aTc p.T134I TTC8_ENST00000345383.5_Missense_Mutation_p.T134I|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Missense_Mutation_p.T144I|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.T134I Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 144 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 ACACCCAGAACCGCCTACACA 0.527000 37 25 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89918487 89918487 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:89918487G>A ENST00000405460.2 + 5 623 c.527G>A c.(526-528)gGa>gAa p.G176E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 176 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGGAAAAGGGAACCTATGGA 0.368000 6 1 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102574540 102574540 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:102574540C>T ENST00000249377.4 + 2 461 c.180C>T c.(178-180)ctC>ctT p.L60L FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Silent_p.L60L NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 60 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ACACATATCTCCATGAGAAAT 0.522000 59 35 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320508 47320508 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr21:47320508G>A ENST00000400314.1 + 6 531 c.193G>A c.(193-195)Gga>Aga p.G65R PCBP3_ENST00000449640.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G65R|PCBP3_ENST00000400304.1_Missense_Mutation_p.G33R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G65R P57721 PCBP3_HUMAN poly(rC) binding protein 3 65 KH 1. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) ATTCCAGAAAGGAGAAACTGT 0.612000 31 30 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15694228 15694228 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:15694228G>A ENST00000281513.5 - 4 269 c.244C>T c.(244-246)Cgc>Tgc p.R82C NBAS_ENST00000441750.1_Missense_Mutation_p.R82C NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 82 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTAACCAAGCGAACCAGTCCA 0.358000 19 21 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46925764 46925764 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:46925764C>T ENST00000258947.3 + 4 465 c.364C>T c.(364-366)Cct>Tct p.P122S CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50S|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146S NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 122 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 AGCAAGTATTCCTTTCCAATT 0.448000 64 169 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026464 197026464 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:197026464C>T ENST00000367412.1 - 6 980 c.937G>A c.(937-939)Gaa>Aaa p.E313K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 313 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CAACGTATTTCTGCTGACCCA 0.363000 107 69 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52447746 52447746 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:52447746C>T ENST00000293471.6 + 6 1289 c.610C>T c.(610-612)Cat>Tat p.H204Y ZNF613_ENST00000391794.4_Missense_Mutation_p.H168Y NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AGATAAACCCCATGTATGCAC 0.408000 60 264 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9404437 9404437 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:9404437G>A ENST00000378501.2 + 24 2341 c.2326G>A c.(2326-2328)Gat>Aat p.D776N PLCB4_ENST00000414679.2_Missense_Mutation_p.D788N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D776N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D788N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D776N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D776N NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 776 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGCTGTGTATGATGATAACAA 0.483000 16 27 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150695528 150695528 + Silent SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:150695528C>G ENST00000297494.3 + 6 1023 c.666C>G c.(664-666)ggC>ggG p.G222G NOS3_ENST00000461406.1_Silent_p.G16G|NOS3_ENST00000484524.1_Silent_p.G222G|NOS3_ENST00000467517.1_Silent_p.G222G NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 222 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCAACCGGGGCAACCTTCGGT 0.622000 20 13 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47880080 47880080 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:47880080G>A ENST00000289672.2 - 35 5581 c.5531C>T c.(5530-5532)tCc>tTc p.S1844F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1844 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGTGTGTCTGGAATTCCTTTC 0.408000 29 51 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178936336 178936336 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:178936336C>T ENST00000286063.5 - 1 1146 c.829G>A c.(829-831)Gag>Aag p.E277K PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 277 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ACCTGCACCTCATTTGAGTTC 0.527000 Primary Pigmented Nodular Adrenocortical Disease, Familial 57 103 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127230119 127230119 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:127230119G>A ENST00000000233.5 + 4 412 c.e4-1 GCC1_ENST00000497650.1_Intron NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 TTCCTGCCCAGGGCCTCATCT 0.507000 55 103 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100179193 100179193 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:100179193G>A ENST00000524871.1 + 21 3013 c.2723G>A c.(2722-2724)gGa>gAa p.G908E CNTN5_ENST00000418526.2_Missense_Mutation_p.G834E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G908E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G908E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G908E|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 908 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGACCACAGGGATTTGAGGTA 0.423000 28 10 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88376924 88376924 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:88376924A>G ENST00000298699.2 - 12 1355 c.1175T>C c.(1174-1176)aTt>aCt p.I392T C12orf50_ENST00000550553.1_Missense_Mutation_p.I353T NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 392 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TGAAAAAGGAATTCGTTTTCG 0.259000 31 78 0 0 1 0 0 FAM41C 284593 broad.mit.edu 37 1 809736 809736 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:809736C>T ENST00000446136.1 - 0 957 NR_027055.1 CTAGAATTTTCCTTTTCTAGG 0.483000 59 158 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166201294 166201294 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:166201294C>T ENST00000357398.3 + 16 3082 c.2792C>T c.(2791-2793)tCc>tTc p.S931F SCN2A_ENST00000375427.2_Missense_Mutation_p.S931F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S931F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S931F Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 931 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTTTTCCACTCCTTCCTGATC 0.502000 84 180 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205042351 205042351 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:205042351C>T ENST00000331830.4 + 22 3284 c.3000C>T c.(2998-3000)atC>atT p.I1000I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 1000 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGTCCACATCGTGAGGAATG 0.567000 24 81 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38950164 38950164 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:38950164G>A ENST00000359357.3 + 84 12480 c.12226G>A c.(12226-12228)Gaa>Aaa p.E4076K DNAH8_ENST00000441566.1_Missense_Mutation_p.E4040K dynein, axonemal, heavy chain 8 p.E4076K(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TATTCCCTACGAATTCAATTC 0.358000 66 91 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32589215 32589215 + Missense_Mutation SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:32589215C>A ENST00000248980.4 - 1 251 c.47G>T c.(46-48)gGa>gTa p.G16V RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400237.1_Intron NM_006605.3 NP_006596.2 O75678 RFPL2_HUMAN ret finger protein-like 2 0 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 AAAAAAATTTCCATGAGGTGA 0.448000 75 76 1.15098e-32 1.18527e-32 1 1 0 RCSD1 92241 broad.mit.edu 37 1 167659318 167659318 + Missense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:167659318A>T ENST00000367854.3 + 4 562 c.231A>T c.(229-231)aaA>aaT p.K77N RCSD1_ENST00000537350.1_Missense_Mutation_p.K47N NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 77 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) ACCCTCCTAAATTCAAGGTCA 0.433000 126 71 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117858 20117858 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:20117858C>T ENST00000397165.2 - 4 613 c.453G>A c.(451-453)gtG>gtA p.V151V ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Silent_p.V119V|ZNF682_ENST00000358523.5_Silent_p.V119V|ZNF682_ENST00000595736.1_Silent_p.V75V|ZNF682_ENST00000597972.1_Silent_p.V157V NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TAAAGACTTTCACACATTTAT 0.294000 22 25 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551716 125551716 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:125551716C>T ENST00000373680.2 + 1 567 c.505C>T c.(505-507)Cgc>Tgc p.R169C NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 CCTCACCTTCCGCCTGAGCTT 0.562000 34 27 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207820286 207820286 + Missense_Mutation SNP A A C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:207820286A>C ENST00000272852.3 + 3 311 c.265A>C c.(265-267)Aag>Cag p.K89Q NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 89 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GTATTATCTGAAGGTGAGTGA 0.443000 25 66 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419986 25419986 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:25419986C>T ENST00000549301.1 + 0 721 SNHG14_ENST00000441592.2_RNA tccctgacttccctcaacaCT 0.517000 36 108 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90524302 90524302 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:90524302G>A ENST00000404459.1 + 3 362 c.362G>A c.(361-363)gGa>gAa p.G121E NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 121 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) AACAGTCGGGGAAACACTTGG 0.423000 19 25 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755663 79755663 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:79755663G>A ENST00000305428.3 + 3 2628 c.2553_splice c.e3+1 p.Q851_splice NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 851 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 TGGACCTGCAGGTGAGCCTCT 0.632000 13 33 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134483189 134483189 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:134483189C>T ENST00000339249.4 + 3 649 c.509C>T c.(508-510)cCg>cTg p.P170L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 170 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCAGGGCCACCGGAGCTGAAC 0.532000 56 10 0 0 1 0 0 TADA1 117143 broad.mit.edu 37 1 166845465 166845465 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:166845465C>T ENST00000367874.4 - 1 99 c.6G>A c.(4-6)gcG>gcA p.A2A NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 2 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 TCACAAAGGTCGCCATTGCTC 0.617000 5 18 0 0 1 0 0 HCAR1 27198 broad.mit.edu 37 12 123213940 123213940 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:123213940G>A ENST00000432564.1 - 1 1189 c.947C>T c.(946-948)tCg>tTg p.S316L HCAR1_ENST00000436083.2_Missense_Mutation_p.S316L|HCAR1_ENST00000356987.2_Missense_Mutation_p.S316L NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 316 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 ACCGAGGTTCGAAATTGGCAT 0.493000 46 137 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901005 123901005 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:123901005C>T ENST00000431524.1 + 1 709 c.676C>T c.(676-678)Cgg>Tgg p.R226W NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TTCCATCCTGCGGATCCGCAC 0.517000 57 13 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17328564 17328564 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:17328564G>A ENST00000452699.1 - 8 844 c.655C>T c.(655-657)Ccg>Tcg p.P219S RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P219S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P224S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 224 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GACTTGACCGGTATGCTGATC 0.642000 4 26 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377921 49377921 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:49377921C>T ENST00000200453.5 + 2 1700 c.1431C>T c.(1429-1431)gcC>gcT p.A477A NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 477 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) ACCAGAGGGCCCACTTCAGGG 0.572000 7 74 0 0 1 0 0 SPPL2B 56928 broad.mit.edu 37 19 2338753 2338753 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:2338753C>T ENST00000452401.2 + 0 452 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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) GCCCCCAGGTCCCCCCGGGGG 0.642000 15 11 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11111118 11111118 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:11111118G>A ENST00000304623.8 - 14 2504 c.2315C>T c.(2314-2316)tCg>tTg p.S772L CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S435L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S772L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S681L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S339L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 772 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CAGCCGGTACGAGAGGTTCCT 0.537000 34 95 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15763627 15763627 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:15763627G>A ENST00000381341.2 + 20 1904 c.1515G>A c.(1513-1515)aaG>aaA p.K505K DDX1_ENST00000233084.3_Silent_p.K505K Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 505 Helicase C-terminal.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGGAACATAAGATGGATCAAG 0.368000 47 54 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367319 234367319 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:234367319C>T ENST00000366618.3 + 3 585 c.440C>T c.(439-441)tCc>tTc p.S147F SLC35F3_ENST00000366617.3_Missense_Mutation_p.S78F NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 78 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGCGTGTGCTCCTCGTGGGCG 0.642000 49 127 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151331022 151331022 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:151331022C>T ENST00000367321.3 + 21 2467 c.2193C>T c.(2191-2193)tcC>tcT p.S731S MTHFD1L_ENST00000478643.1_3'UTR NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 731 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GCCGAGCTTCCGGCTTGGTGC 0.527000 24 91 0 0 1 0 0 LRRC20 55222 broad.mit.edu 37 10 72100349 72100349 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:72100349G>A ENST00000355790.4 - 3 669 c.192C>T c.(190-192)tcC>tcT p.S64S LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Silent_p.S64S|LRRC20_ENST00000395010.1_Silent_p.S64S|LRRC20_ENST00000395011.1_Intron NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 64 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 TGCTGGTGAGGGACTTAAGCT 0.562000 19 32 0 0 1 0 0 GBP2 2634 broad.mit.edu 37 1 89587524 89587524 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:89587524C>T ENST00000370466.3 - 2 394 c.126G>A c.(124-126)gcG>gcA p.A42A NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 42 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) GGCCCACAATCGCCACCACCA 0.517000 143 78 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101300387 101300387 + Missense_Mutation SNP T T A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:101300387T>A ENST00000519449.1 - 3 332 c.16A>T c.(16-18)Ata>Tta p.I6L RNF19A_ENST00000341084.2_Missense_Mutation_p.I6L NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 6 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ATAAAACCTATTTCTTGTTCT 0.353000 18 25 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27169167 27169167 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:27169167C>T ENST00000360046.5 - 2 705 c.640G>A c.(640-642)Gag>Aag p.E214K HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.E214K|HOXA-AS2_ENST00000521159.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 214 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 CGCTTAGGCTCCCCTCCGTTA 0.582000 30 45 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126114872 126114872 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:126114872C>T ENST00000393425.1 + 2 128 c.29C>T c.(28-30)tCc>tTc p.S10F CCDC37_ENST00000505024.1_Missense_Mutation_p.S10F|CCDC37_ENST00000510833.1_Missense_Mutation_p.S10F|CCDC37_ENST00000352312.1_Missense_Mutation_p.S10F Q494V2 CCD37_HUMAN coiled-coil domain containing 37 10 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) ACTATAGTCTCCAAGAACATG 0.542000 23 46 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75039016 75039016 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:75039016C>T ENST00000326665.5 - 14 2596 c.2378G>A c.(2377-2379)gGg>gAg p.G793E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 793 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCTGCCTCCCCTTTTCCCTG 0.517000 127 86 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129128529 129128529 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:129128529C>T ENST00000326639.6 + 19 2749 c.2538C>T c.(2536-2538)ttC>ttT p.F846F LARP1B_ENST00000264584.5_Silent_p.F787F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Silent_p.F265F|LARP1B_ENST00000441387.1_3'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 846 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TAGAAGACTTCCGTGTTGATG 0.294000 47 39 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6045617 6045617 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:6045617G>A ENST00000265849.7 - 2 174 c.69C>T c.(67-69)gtC>gtT p.V23V PMS2_ENST00000382321.4_Silent_p.V23V|PMS2_ENST00000406569.3_Silent_p.V23V|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 23 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AAATCTGATGGACTGACTTCC 0.413000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 325 239 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7521555 7521555 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:7521555G>A ENST00000313599.3 - 16 4103 c.4046C>T c.(4045-4047)tCg>tTg p.S1349L CD163L1_ENST00000416109.2_Missense_Mutation_p.S1359L|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1349L Q9NR16 C163B_HUMAN CD163 molecule-like 1 1349 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGATTTCAGCGACTGTCCTga 0.443000 19 50 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91558423 91558423 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:91558423C>T ENST00000052754.5 - 3 784 c.283G>A c.(283-285)Gaa>Aaa p.E95K DCN_ENST00000441303.2_Missense_Mutation_p.E95K|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.E95K|DCN_ENST00000393155.1_Missense_Mutation_p.E95K|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.E95K|DCN_ENST00000547568.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 95 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TCTTTGATTTCGGTTATTTTG 0.373000 22 28 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89735060 89735060 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:89735060C>T ENST00000343435.5 - 3 715 c.179G>A c.(178-180)gGg>gAg p.G60E RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G60E NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 60 plasma membrane GTP binding|GTPase activity p.G60V(1) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CTTGTTCTTCCCAGCCAGCTT 0.512000 57 158 0 0 1 0 0 ARF6 382 broad.mit.edu 37 14 50360478 50360478 + Silent SNP C C A rs140399482 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:50360478C>A ENST00000298316.5 + 2 571 c.24C>A c.(22-24)atC>atA p.I8I NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 8 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) TATCCAAAATCTTCGGGAACA 0.632000 41 33 4.07013e-28 4.18642e-28 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686526 125686526 + Missense_Mutation SNP G G C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:125686526G>C ENST00000371126.1 - 1 308 c.66C>G c.(64-66)agC>agG p.S22R NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 22 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCGACGGCGAGCTCTCGGCGT 0.706000 29 3 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470642 10470642 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:10470642G>A ENST00000382483.3 - 4 1189 c.966C>T c.(964-966)tcC>tcT p.S322S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 322 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCATCTCCACGGACAGGCTGC 0.657000 19 91 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167055 76167055 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:76167055T>C ENST00000225777.3 + 2 316 c.257T>C c.(256-258)tTg>tCg p.L86S SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Missense_Mutation_p.L86S|SYNGR2_ENST00000588282.1_Missense_Mutation_p.L86S|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Missense_Mutation_p.L30S O43760 SNG2_HUMAN synaptogyrin 2 86 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GCCTTCTTCTTGGTGGTCGAC 0.587000 50 118 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67231815 67231815 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:67231815C>T ENST00000382713.5 + 2 349 c.159C>T c.(157-159)ttC>ttT p.F53F RP11-465I4.2_ENST00000583991.1_RNA NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 53 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CAGCTTATTTCAGAAACTTTC 0.408000 28 34 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60927133 60927133 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:60927133G>A ENST00000252999.3 - 5 756 c.690C>T c.(688-690)atC>atT p.I230I LAMA5_ENST00000370692.3_Silent_p.I230I|LAMA5_ENST00000370677.3_Silent_p.I230I NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 230 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGACACCACGATCTGTGGGC 0.657000 8 13 0 0 1 0 0 SDHC 6391 broad.mit.edu 37 1 161332140 161332140 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:161332140C>T ENST00000342751.4 + 5 288 c.263C>T c.(262-264)cCt>cTt p.P88L SDHC_ENST00000367975.2_Silent_p.L143L|SDHC_ENST00000392169.2_Silent_p.L90L|SDHC_ENST00000513009.1_Missense_Mutation_p.P54L|SDHC_ENST00000432287.2_Silent_p.L109L|SDHC_ENST00000470743.2_3'UTR NM_001035511.1 NP_001030588.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 0 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) AGGAAAAGGCCTGAAGATTCC 0.443000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 16 21 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265540 10265540 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:10265540C>T ENST00000418404.3 - 4 563 c.400G>A c.(400-402)Gtg>Atg p.V134M MYH13_ENST00000570743.1_Missense_Mutation_p.V134M|MYH13_ENST00000252172.4_Missense_Mutation_p.V134M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 134 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGCTTGTACACCGGCAGCCAC 0.527000 75 22 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348889 54348889 + Missense_Mutation SNP A A C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:54348889A>C ENST00000243103.3 + 1 272 c.176A>C c.(175-177)gAg>gCg p.E59A NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 59 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CCGTCGGCGGAGCCGTGCAAT 0.706000 9 3 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37507988 37507988 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:37507988G>A ENST00000374660.1 + 40 3636 c.3537G>A c.(3535-3537)ctG>ctA p.L1179L ANKRD30A_ENST00000361713.1_Silent_p.L1060L|ANKRD30A_ENST00000602533.1_Silent_p.L1060L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1148 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGCTAAAACTGGAAATAGCCA 0.308000 30 61 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178485756 178485756 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:178485756G>A ENST00000367641.3 + 5 282 c.223G>A c.(223-225)Gat>Aat p.D75N TEX35_ENST00000367639.1_Missense_Mutation_p.D83N|TEX35_ENST00000367643.3_Missense_Mutation_p.D75N|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.D75N testis expressed 35 p.D75Y(2) TTAGATAAAGGATCTAATGGA 0.403000 26 22 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108619381 108619381 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:108619381C>T ENST00000218006.2 - 18 3457 c.3166G>A c.(3166-3168)Gaa>Aaa p.E1056K NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1056 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CAGAAGGTTTCCTCTGTGCCT 0.403000 99 14 0 0 1 0 0 ENSA 2029 broad.mit.edu 37 1 150600038 150600038 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:150600038C>T ENST00000271690.8 - 2 194 c.88G>A c.(88-90)Gag>Aag p.E30K ENSA_ENST00000356527.5_Missense_Mutation_p.E30K|ENSA_ENST00000339643.5_Missense_Mutation_p.E30K|ENSA_ENST00000362052.7_Missense_Mutation_p.E30K|ENSA_ENST00000369009.3_Missense_Mutation_p.E30K|ENSA_ENST00000361631.5_Missense_Mutation_p.E26K|ENSA_ENST00000369016.4_Missense_Mutation_p.E30K|ENSA_ENST00000361532.5_Missense_Mutation_p.E26K|ENSA_ENST00000369014.5_Missense_Mutation_p.E30K|ENSA_ENST00000503345.1_Missense_Mutation_p.E30K|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Missense_Mutation_p.E26K|ENSA_ENST00000503241.1_Missense_Mutation_p.E30K NM_207044.1 NP_996927.1 O43768 ENSA_HUMAN endosulfine alpha 30 cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) TCAGCTCTCTCAGGCAGAATA 0.453000 33 104 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240961663 240961663 + Missense_Mutation SNP C C G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:240961663C>G ENST00000252711.2 - 2 270 c.170G>C c.(169-171)aGc>aCc p.S57T NDUFA10_ENST00000307300.4_Missense_Mutation_p.S57T|NDUFA10_ENST00000404554.1_Missense_Mutation_p.S57T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.S57T NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 57 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) TATCACTCTGCTGCGTTCTGT 0.398000 45 87 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636175 42636175 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:42636175C>T ENST00000315323.3 + 1 1251 c.1119C>T c.(1117-1119)caC>caT p.H373H NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 373 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) AGTACTTCCACCTGGCCGCCT 0.657000 49 109 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2749389 2749389 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:2749389G>A ENST00000274643.7 - 2 482 c.140C>T c.(139-141)tCa>tTa p.S47L MYLK4_ENST00000268446.5_Missense_Mutation_p.S47L NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 47 ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCCAGATCTTGAATCCTGGTC 0.383000 63 79 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36293084 36293084 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:36293084G>A ENST00000437635.2 - 6 1321 c.1144C>T c.(1144-1146)Ccg>Tcg p.P382S NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 382 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTGTCCAGCGGAAGCTCCTCT 0.557000 26 19 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882709 228882709 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:228882709C>T ENST00000392056.3 - 7 2907 c.2861G>A c.(2860-2862)gGa>gAa p.G954E SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 954 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGTTGTTTTCCACTGGAGTT 0.493000 54 139 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64605943 64605943 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:64605943C>T ENST00000371079.1 + 6 1137 c.762C>T c.(760-762)atC>atT p.I254I ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.I254I NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 254 FZ. 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 AATGTGAAATCCTGGAGAATG 0.488000 113 82 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73487204 73487204 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:73487204C>T ENST00000314256.7 + 12 1597 c.1203C>T c.(1201-1203)tcC>tcT p.S401S KIAA0195_ENST00000579208.1_Silent_p.S52S|KIAA0195_ENST00000375248.5_Silent_p.S411S NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 401 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) GCCACAGTTCCAGCCTGCTGC 0.657000 33 12 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220338490 220338490 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:220338490G>A ENST00000312358.7 + 18 4444 c.4312G>A c.(4312-4314)Gag>Aag p.E1438K SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1438 Ig-like 7. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGTGTGTACGAGCTGAGCCA 0.667000 86 100 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160067535 160067535 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:160067535C>T ENST00000327245.5 - 10 1779 c.933G>A c.(931-933)cgG>cgA p.R311R NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 311 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TATTCATGCGCCGCTCAATCT 0.478000 37 125 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26717846 26717846 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:26717846G>A ENST00000272371.2 - 9 987 c.861C>T c.(859-861)tcC>tcT p.S287S OTOF_ENST00000403946.3_Silent_p.S287S NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 287 C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTCCTTCATGGATGTGTACT 0.592000 39 66 0 0 1 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394567 39394567 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:39394567C>T ENST00000254072.6 + 1 271 c.264C>T c.(262-264)tcC>tcT p.S88S NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 88 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGTGGGTCCAGCTGTGGTC 0.617000 58 151 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73455258 73455258 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:73455258C>T ENST00000224721.6 + 21 2393 c.2388C>T c.(2386-2388)acC>acT p.T796T CDH23_ENST00000299366.7_Silent_p.T836T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 791 Cadherin 8. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGAGATGACCCCTCCAGACT 0.592000 5 16 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5108554 5108554 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:5108554C>T ENST00000315997.5 - 4 768 c.567G>A c.(565-567)aaG>aaA p.K189K C16orf89_ENST00000422873.1_Silent_p.K227K|C16orf89_ENST00000350219.4_Silent_p.K227K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.K189K|C16orf89_ENST00000474471.3_Silent_p.K189K NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 189 extracellular region p.K227K(2)|p.K189K(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 AGCAGCCGGGCTTGGTCATGA 0.647000 17 10 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464766 37464766 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:37464766C>T ENST00000299824.1 + 2 387 c.198C>T c.(196-198)ttC>ttT p.F66F PPP1R16B_ENST00000373331.2_Silent_p.F66F|PPP1R16B_ENST00000468265.1_3'UTR NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 66 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding p.F66F(1) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AAGTGTCCTTCGAGGCCAGCG 0.652000 23 21 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48379513 48379513 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:48379513G>A ENST00000380518.3 - 25 1842 c.1678C>T c.(1678-1680)Cgg>Tgg p.R560W COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R491W NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 560 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTACTTACCCGGGCTCCAGGA 0.662000 11 13 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11835360 11835360 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:11835360G>A ENST00000262442.3 + 64 12203 c.12135G>A c.(12133-12135)acG>acA p.T4045T DNAH9_ENST00000396001.2_Silent_p.T357T|DNAH9_ENST00000454412.2_Silent_p.T3969T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4045 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCGGGAGACGGAGTTTAAGA 0.493000 150 69 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24735713 24735713 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:24735713G>A ENST00000399409.3 - 15 1961 c.1478C>T c.(1477-1479)gCc>gTc p.A493V RABGGTA_ENST00000216840.6_Missense_Mutation_p.A493V|RABGGTA_ENST00000560777.1_Missense_Mutation_p.A102V NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 493 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) ATTATCACTGGCCTGCAGCAC 0.622000 20 55 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968024 4968024 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:4968024C>T ENST00000380373.2 - 1 332 c.307G>A c.(307-309)Gaa>Aaa p.E103K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATTCCTGGGCAAAG 0.443000 129 147 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140186775 140186775 + Translation_Start_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:140186775G>A ENST00000530339.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTAAAGATGGAGTTTTCCT 0.493000 60 65 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882456 167882456 + Silent SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:167882456T>C ENST00000265293.4 + 19 3256 c.2754T>C c.(2752-2754)ttT>ttC p.F918F WWC1_ENST00000521089.1_Silent_p.F918F|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 918 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGGGGCCATTTCTTCGAGGGA 0.642000 92 60 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755596 79755596 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:79755596C>T ENST00000305428.3 + 3 2561 c.2486C>T c.(2485-2487)tCt>tTt p.S829F NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 829 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GGCCAACCTTCTTGGACCATT 0.627000 19 58 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38216696 38216696 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:38216696G>A ENST00000407257.1 + 6 1485 c.1338G>A c.(1336-1338)ttG>ttA p.L446L RMDN2_ENST00000406384.1_Silent_p.L268L|RMDN2_ENST00000234195.3_Silent_p.L446L|RMDN2_ENST00000354545.2_Silent_p.L268L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Silent_p.L123L regulator of microtubule dynamics 2 ATGCAGTTTTGTGTGGCTATG 0.323000 56 57 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912733 94912733 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:94912733C>T ENST00000334708.3 - 3 916 c.852G>A c.(850-852)atG>atA p.M284I RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 284 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CCACCTGCTTCATTTTCCCCG 0.552000 56 71 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156556460 156556460 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:156556460C>T ENST00000353442.4 - 6 689 c.453G>A c.(451-453)ttG>ttA p.L151L LMBR1_ENST00000540390.1_Silent_p.L130L|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Silent_p.L151L NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 151 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) GAAGCATGACCAAAGTCTCTA 0.378000 90 65 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157773845 157773845 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:157773845T>C ENST00000358292.3 - 3 160 c.109A>G c.(109-111)Acg>Gcg p.T37A FCRL1_ENST00000368176.3_Missense_Mutation_p.T37A|FCRL1_ENST00000491942.1_Missense_Mutation_p.T37A|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 37 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATCTTACACGTCAGGGTCACT 0.532000 30 154 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154311712 154311712 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:154311712C>T ENST00000285873.7 - 4 683 c.608G>A c.(607-609)tGg>tAg p.W203* NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 203 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGGGGACACCAGGCTATGGA 0.423000 65 65 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76682337 76682337 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:76682337C>T ENST00000459742.1 + 0 58 AGAACTGGAACCGAAGTTTCT 0.592000 33 59 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130155408 130155408 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:130155408C>T ENST00000373387.4 + 28 3269 c.2917C>T c.(2917-2919)Cct>Tct p.P973S GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.P951S|GARNL3_ENST00000314904.5_3'UTR NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 973 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CGAAGCCAACCCTGAGGGGCA 0.582000 25 63 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41155106 41155106 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:41155106C>T ENST00000263413.3 - 14 2333 c.2069G>A c.(2068-2070)gGg>gAg p.G690E C6_ENST00000337836.5_Missense_Mutation_p.G690E NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 690 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTCCAGGTCCCGTCTGGTAA 0.408000 47 36 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27543168 27543168 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:27543168G>A ENST00000544915.1 + 8 1032 c.813G>A c.(811-813)aaG>aaA p.K271K RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Silent_p.K220K|ARNTL2_ENST00000311001.5_Silent_p.K291K|ARNTL2_ENST00000261178.5_Silent_p.K257K|ARNTL2_ENST00000395901.2_Silent_p.K268K|ARNTL2_ENST00000266503.5_Silent_p.K305K|ARNTL2_ENST00000546179.1_Silent_p.K268K NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 305 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ACTCAAAGAAGAAAGGTATCA 0.343000 26 55 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105378050 105378050 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:105378050G>A ENST00000264122.4 - 19 3034 c.2713C>T c.(2713-2715)Ccc>Tcc p.P905S CBLB_ENST00000394027.3_Missense_Mutation_p.P883S|CBLB_ENST00000407712.1_Missense_Mutation_p.P120S NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 905 Interaction with SH3KBP1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GGTTTAGGGGGTCTGGCTGGT 0.433000 Mis S AML 19 47 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95423537 95423537 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:95423537G>A ENST00000336148.5 - 4 435 c.311C>T c.(310-312)tCg>tTg p.S104L NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTTAGGAGCCGAATGAACTAC 0.308000 Direct reversal of damage;Homologous recombination 43 19 0 0 1 0 0 GOLGA6L7P 728310 broad.mit.edu 37 15 29091096 29091096 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:29091096C>T ENST00000569815.1 - 0 336 NR_047567.1 GCCTTATTTTCCTATAGAAAA 0.527000 8 13 0 0 1 0 0 FABP9 646480 broad.mit.edu 37 8 82370629 82370629 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:82370629C>T ENST00000379071.2 - 4 443 c.388G>A c.(388-390)Gaa>Aaa p.E130K RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 130 lipid binding|transporter activity p.E130K(1) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) CACACCTTTTCGTAGATTCTG 0.398000 17 50 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124751925 124751925 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:124751925G>A ENST00000321582.5 - 4 1275 c.1088C>T c.(1087-1089)aCc>aTc p.T363I TTLL11_ENST00000373776.3_Missense_Mutation_p.T363I|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 363 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 GCTCTGGAGGGTCCCTGCCAG 0.517000 73 63 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 37098619 37098619 + Translation_Start_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:37098619C>T ENST00000300105.6 - 1 984 c.3G>A c.(1-3)atG>atA p.M1I NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 1 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 CAAACAGCCCCATAATTCTTC 0.428000 40 54 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159275792 159275792 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:159275792C>T ENST00000368115.1 + 5 445 c.346C>T c.(346-348)Cag>Tag p.Q116* FCER1A_ENST00000368114.1_Nonsense_Mutation_p.Q83* NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 116 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GCTGCTCCTTCAGGCCTCTGC 0.453000 59 33 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65546386 65546386 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:65546386C>T ENST00000532090.2 - 2 1788 c.1578G>A c.(1576-1578)gtG>gtA p.V526V NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 469 protein binding lung(1) 1 TGGACACCACCACCTGCCGCA 0.602000 7 5 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548892 158548892 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:158548892G>A ENST00000368150.1 - 1 797 c.798C>T c.(796-798)atC>atT p.I266I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AACCAAAGTGGATTATAACCA 0.483000 51 209 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25806268 25806268 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:25806268G>A ENST00000399878.3 - 10 1793 c.1671C>T c.(1669-1671)atC>atT p.I557I SEL1L3_ENST00000264868.5_Silent_p.I522I|SEL1L3_ENST00000502949.1_Silent_p.I404I NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 557 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GAAAGGGGACGATAGAGCTAA 0.433000 34 23 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189607219 189607219 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:189607219C>T ENST00000264731.3 + 12 1687 c.1598C>T c.(1597-1599)tCc>tTc p.S533F TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.S435F|TP63_ENST00000392460.3_Missense_Mutation_p.S533F|TP63_ENST00000449992.1_Missense_Mutation_p.S354F|TP63_ENST00000354600.5_Missense_Mutation_p.S439F|TP63_ENST00000440651.2_Missense_Mutation_p.S529F|TP63_ENST00000392463.2_Missense_Mutation_p.S439F|TP63_ENST00000382063.4_Missense_Mutation_p.S448F NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 533 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCCATGCCATCCACCTCCCAC 0.607000 HNSCC(45;0.13) 20 64 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034118 30034118 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:30034118G>A ENST00000328224.6 - 2 1341 c.108C>T c.(106-108)tcC>tcT p.S36S NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 36 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.S36S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CAGCTGCCCTGGAGTGAGCAA 0.657000 45 22 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534972 96534972 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:96534972G>A ENST00000371321.3 + 2 408 c.326G>A c.(325-327)gGa>gAa p.G109E CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 109 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCTAACAGAGGATTTGGTAGG 0.517000 23 56 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1117777 1117777 + Silent SNP C C T rs145334605 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:1117777C>T ENST00000379290.1 + 10 1040 c.867C>T c.(865-867)taC>taT p.Y289Y TTLL10_ENST00000379289.1_Silent_p.Y289Y|TTLL10_ENST00000379288.3_Silent_p.Y216Y Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 289 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGAGACCTACCGCCTGGACC 0.612000 111 57 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155720261 155720261 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:155720261G>A ENST00000510397.1 + 4 1126 c.947G>A c.(946-948)aGa>aAa p.R316K RBM46_ENST00000514866.1_Missense_Mutation_p.R316K|RBM46_ENST00000281722.3_Missense_Mutation_p.R316K NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 316 nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AACACTTGGAGACAGCATCTT 0.398000 16 70 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44683497 44683497 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:44683497C>T ENST00000396058.1 + 5 1042 c.875C>T c.(874-876)cCc>cTc p.P292L RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.P292L|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron O14709 ZN197_HUMAN zinc finger protein 197 292 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GGAAGTGTTCCCCAGGTCCTT 0.433000 8 31 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133470 47133470 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:47133470G>A ENST00000422732.2 - 0 435 NR_033957.1 CTCCCTTCATGGGTCCAAAAT 0.448000 26 102 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136403521 136403521 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:136403521A>G ENST00000393061.3 + 4 1043 c.611A>G c.(610-612)aAg>aGg p.K204R ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.K95R|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.K95R Q86TH1 ATL2_HUMAN ADAMTS-like 2 95 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GGCACGTCCAAGCGGTACCAG 0.652000 17 72 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95089969 95089969 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:95089969G>A ENST00000553947.1 + 8 2053 c.1165G>A c.(1165-1167)Gat>Aat p.D389N SERPINA3_ENST00000393078.3_Missense_Mutation_p.D364N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D364N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D146N|SERPINA3_ENST00000467132.1_Missense_Mutation_p.D364N P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 364 RCL. acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGCTGTGCTTGATGTATTTGA 0.522000 20 66 0 0 1 0 0 GNB2L1 10399 broad.mit.edu 37 5 180665143 180665143 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:180665143G>A ENST00000512805.1 - 6 1141 c.733C>T c.(733-735)Cgc>Tgc p.R245C GNB2L1_ENST00000514455.1_Missense_Mutation_p.R29C|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.R201C|GNB2L1_ENST00000511900.1_Missense_Mutation_p.R197C NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 245 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) AGCCAGTAGCGGTTAGGGCTG 0.562000 42 47 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41430275 41430275 + RNA SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:41430275G>A ENST00000599198.1 + 0 152 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CTCCCACCAGGGCCCCGCCCT 0.582000 46 45 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97869045 97869045 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:97869045G>A ENST00000437310.1 + 1 876 c.816G>A c.(814-816)atG>atA p.M272I NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACCAAGATATGATGGAGTCTC 0.418000 18 22 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436601 248436601 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:248436601G>A ENST00000318021.2 - 1 537 c.516C>T c.(514-516)atC>atT p.I172I NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGAAGTGATCGATCTCGTGTG 0.552000 5 49 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687708 11687708 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:11687708G>A ENST00000262442.3 + 41 7981 c.7913G>A c.(7912-7914)gGa>gAa p.G2638E DNAH9_ENST00000454412.2_Missense_Mutation_p.G2638E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2638 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGAAGCTCGGAAACTTCCCG 0.562000 115 45 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37471080 37471080 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:37471080G>A ENST00000002125.4 + 7 796 c.756G>A c.(754-756)ttG>ttA p.L252L NDUFAF7_ENST00000336237.6_Silent_p.L154L|NDUFAF7_ENST00000483999.1_3'UTR NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 GGTTTGTTTTGGCACCTTCTG 0.363000 24 22 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109265207 109265207 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:109265207G>A ENST00000370017.3 + 5 1126 c.849G>A c.(847-849)ctG>ctA p.L283L FNDC7_ENST00000271311.2_Silent_p.L284L NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 284 Fibronectin type-III 3. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CAATGACCCTGAAAACTGGTA 0.448000 10 63 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53747042 53747042 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:53747042T>C ENST00000333952.4 - 4 289 c.124A>G c.(124-126)Agg>Ggg p.R42G ZNF677_ENST00000594681.1_Missense_Mutation_p.R42G|ZNF677_ENST00000599012.1_Missense_Mutation_p.R42G|ZNF677_ENST00000601413.1_Missense_Mutation_p.R42G|ZNF677_ENST00000601828.1_Missense_Mutation_p.R42G|ZNF677_ENST00000598513.1_Missense_Mutation_p.R42G|ZNF677_ENST00000598806.1_Missense_Mutation_p.R42G Q86XU0 ZN677_HUMAN zinc finger protein 677 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGCAGGTTCCTGTAGTTCTCC 0.498000 28 78 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999379 27999379 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:27999379C>T ENST00000441525.1 - 1 187 c.73G>A c.(73-75)Gag>Aag p.E25K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 25 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCAGACTGCTCCTCTGGGCTG 0.567000 42 6 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24845899 24845899 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:24845899C>T ENST00000413692.2 + 10 2789 c.2645C>T c.(2644-2646)tCc>tTc p.S882F NFATC4_ENST00000556279.1_Missense_Mutation_p.S851F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S807F|NFATC4_ENST00000555453.1_Missense_Mutation_p.S807F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.S354F|NFATC4_ENST00000555167.1_Missense_Mutation_p.S354F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.S749F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.S107F|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000553879.1_Missense_Mutation_p.S749F|NFATC4_ENST00000554344.1_Missense_Mutation_p.S749F|NFATC4_ENST00000555590.1_Missense_Mutation_p.S832F|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.S832F|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.S851F|NFATC4_ENST00000555802.1_Missense_Mutation_p.S107F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S819F|NFATC4_ENST00000250373.4_Missense_Mutation_p.S819F NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 819 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CTTCCTGCATCCCCACCGCTT 0.642000 46 98 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377029 77377029 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:77377029G>A ENST00000451710.3 - 26 4795 c.4558C>T c.(4558-4560)Cag>Tag p.Q1520* TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1515*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1520*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1515*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1520*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1520 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q1520K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTGTTTGGCTGAAGCCATGGT 0.488000 29 70 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455108 70455108 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:70455108C>T ENST00000503640.1 - 6 1621 c.1566G>A c.(1564-1566)aaG>aaA p.K522K UGT2A1_ENST00000286604.4_Silent_p.K522K|UGT2A1_ENST00000512704.1_Silent_p.K478K|UGT2A2_ENST00000457664.2_Silent_p.K531K|UGT2A1_ENST00000514019.1_Silent_p.K688K NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 522 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTTTTTTCTTCTTTCCTATCT 0.328000 36 25 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140201449 140201449 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:140201449G>A ENST00000340951.4 - 22 2779 c.2584C>T c.(2584-2586)Ccc>Tcc p.P862S EXD3_ENST00000342129.4_Missense_Mutation_p.P500S NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 862 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 GGCTCGCAGGGGCTGGGGGCG 0.652000 9 9 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582574 55582574 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:55582574C>T ENST00000361849.3 - 34 5312 c.4918G>A c.(4918-4920)Gaa>Aaa p.E1640K PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1598K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1615K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1638K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1635K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1569K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1638 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGCCTTATTTCCTCTTTCTCT 0.398000 HNSCC(58;0.16) 27 77 0 0 1 0 0 LIX1 167410 broad.mit.edu 37 5 96432560 96432560 + Nonsense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:96432560C>T ENST00000274382.4 - 5 810 c.515G>A c.(514-516)tGg>tAg p.W172* CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 172 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) GCTTCCATTCCAGTGCAATAG 0.443000 44 39 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13541976 13541976 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:13541976G>A ENST00000341083.3 - 3 390 c.94C>T c.(94-96)Cta>Tta p.L32L BEND7_ENST00000396898.2_Silent_p.L84L|BEND7_ENST00000396900.2_Silent_p.L84L|BEND7_ENST00000378605.3_Silent_p.L32L NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 84 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TCTTCTTTTAGTTTCTCTCCT 0.502000 30 60 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7863106 7863106 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:7863106G>A ENST00000377532.3 + 8 1096 c.e8-1 PER3_ENST00000361923.2_Splice_Site|PER3_ENST00000377541.1_Splice_Site P56645 PER3_HUMAN period circadian clock 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CTGTATCCCAGAGCAGTGCCT 0.413000 92 41 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136548427 136548427 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:136548427G>A ENST00000264162.2 - 15 5146 c.5136C>T c.(5134-5136)cgC>cgT p.R1712R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1712 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGGCCACGAGCGATCTGCGA 0.458000 19 41 0 0 1 0 0 KHDC1L 100129128 broad.mit.edu 37 6 73934025 73934025 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:73934025G>A ENST00000423730.3 - 5 902 c.467C>T c.(466-468)cCc>cTc p.P156L KHDC1L_ENST00000370388.3_Silent_p.T53T|KHDC1L_ENST00000471312.1_5'UTR GCTGAATAAGGGTGTGGCTGT 0.522000 6 1 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642357 156642357 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:156642357C>T ENST00000368223.3 - 4 1755 c.1623G>A c.(1621-1623)ttG>ttA p.L541L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 541 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTCTTTTTCCAAAGGAACCT 0.458000 37 153 0 0 1 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659497 63659497 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:63659497G>A ENST00000523211.1 + 4 412 c.280G>A c.(280-282)Gat>Aat p.D94N NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 94 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CTAGGACACCGATCTAATGAC 0.448000 26 18 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582538 120582538 + Nonsense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:120582538G>A ENST00000300648.6 - 41 5269 c.5257C>T c.(5257-5259)Cga>Tga p.R1753* NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1753 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.R1753R(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGCCATCTCGGACATGGGGT 0.507000 90 88 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49005894 49005894 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr4:49005894C>T ENST00000226432.4 + 7 1128 c.945C>T c.(943-945)acC>acT p.T315T CWH43_ENST00000513409.1_Silent_p.T288T NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 315 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CTGGGAAAACCATGACCATTG 0.453000 22 88 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507867 219507867 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:219507867G>A ENST00000411696.2 - 7 4151 c.3372C>T c.(3370-3372)atC>atT p.I1124I ZNF142_ENST00000449707.1_Silent_p.I1124I P52746 ZN142_HUMAN zinc finger protein 142 1124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGCAGCCCCGGATCTGGTGAG 0.612000 13 22 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136203 92136203 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr14:92136203C>T ENST00000256343.3 - 14 1398 c.1242G>A c.(1240-1242)atG>atA p.M414I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 414 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GATGAAATACCATTCCAACGG 0.408000 17 64 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642767 57642767 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:57642767C>T ENST00000254181.4 + 4 3178 c.2724C>T c.(2722-2724)atC>atT p.I908I USP29_ENST00000598197.1_Silent_p.I908I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 908 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGGGGTGATCCCTCAGGGGG 0.473000 50 34 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94467528 94467528 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:94467528C>T ENST00000370225.3 - 45 6254 c.6168G>A c.(6166-6168)aaG>aaA p.K2056K ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.K175K|ABCA4_ENST00000536513.1_Silent_p.K326K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2056 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGCCCAGGCTCTTAATACTCC 0.557000 23 84 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535797 27535797 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr10:27535797C>T ENST00000574842.1 + 0 255 TTGTTGTATTCCCATTTTGTC 0.478000 47 81 0 0 1 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163787 32163787 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:32163787C>T ENST00000564145.1 - 0 47 GAAGGCCTTCCCGCAAAGCTG 0.532000 13 67 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921769 24921769 + Missense_Mutation SNP T T C TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:24921769T>C ENST00000329468.2 + 1 1229 c.755T>C c.(754-756)cTt>cCt p.L252P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCCCGGCATCTTGGAAAGCCT 0.627000 28 27 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511882 60511882 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:60511882G>A ENST00000360469.5 + 16 2720 c.2632G>A c.(2632-2634)Ggc>Agc p.G878S CDH4_ENST00000543233.1_Missense_Mutation_p.G804S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 878 Ser-rich. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CTCCACCGCAGGCTCCGTCAG 0.627000 27 27 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822055 43822055 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:43822055G>A ENST00000389420.3 - 26 3933 c.3934C>T c.(3934-3936)Cca>Tca p.P1312S ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P430S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1312S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1312 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATCCCCATGGTCCGGTTCTC 0.353000 49 40 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176289705 176289705 + Missense_Mutation SNP G G A rs145793659 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:176289705G>A ENST00000329542.4 + 2 425 c.151G>A c.(151-153)Gag>Aag p.E51K NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 51 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGGAGCCCGAGGATGTGTA 0.647000 32 63 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186048 101186048 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:101186048C>T ENST00000294728.2 + 2 182 c.81C>T c.(79-81)atC>atT p.I27I VCAM1_ENST00000370119.4_Silent_p.I27I|VCAM1_ENST00000347652.2_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 27 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.I27M(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTTTTAAAATCGAGACCACCC 0.408000 53 167 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432252 140432252 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:140432252G>A ENST00000306549.3 + 1 1274 c.1197G>A c.(1195-1197)ggG>ggA p.G399G NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 399 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACATTTGGGAATTCTTACT 0.473000 40 102 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278098 36278098 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:36278098C>T ENST00000007510.4 + 21 2775 c.2631C>T c.(2629-2631)ccC>ccT p.P877P ARHGAP33_ENST00000378944.5_Silent_p.P741P|ARHGAP33_ENST00000314737.5_Silent_p.P716P O14559 RHG33_HUMAN Rho GTPase activating protein 33 877 Poly-Pro. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CACTGCCACCCCCTCCCCTGT 0.662000 14 37 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172533494 172533494 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:172533494C>T ENST00000417960.1 + 23 2882 c.2405C>T c.(2404-2406)tCa>tTa p.S802L ECT2_ENST00000441497.2_Missense_Mutation_p.S803L|ECT2_ENST00000540509.1_Missense_Mutation_p.S834L|ECT2_ENST00000392692.3_Missense_Mutation_p.S834L|ECT2_ENST00000232458.5_Missense_Mutation_p.S803L|ECT2_ENST00000427830.1_Missense_Mutation_p.S803L NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 803 T -> P (in a breast cancer sample; somatic mutation). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAAAAGACTTCAAAAAAGGTG 0.299000 24 34 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193336700 193336700 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:193336700C>T ENST00000361510.2 + 6 887 c.653C>T c.(652-654)tCt>tTt p.S218F OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.S200F|OPA1_ENST00000361150.2_Missense_Mutation_p.S164F|OPA1_ENST00000361828.2_Missense_Mutation_p.S218F|OPA1_ENST00000361908.3_Missense_Mutation_p.S200F|OPA1_ENST00000361715.2_Missense_Mutation_p.S182F|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 200 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GATCGTGGATCTGAAAGTGAC 0.358000 68 66 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538228 4538228 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:4538228G>A ENST00000306390.6 - 2 1228 c.768C>T c.(766-768)ttC>ttT p.F256F CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 256 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGCCCTGGAAGGCACCGG 0.622000 56 155 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754426 49754426 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:49754426C>T ENST00000304801.3 - 1 627 c.475G>A c.(475-477)Gac>Aac p.D159N NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 159 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) ACATAGACGTCCCCTAGCTTG 0.483000 23 73 0 0 1 0 0 FAM109A 144717 broad.mit.edu 37 12 111801266 111801266 + Splice_Site SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:111801266G>A ENST00000361483.3 - 4 444 c.3_splice c.e4-1 p.A2_splice FAM109A_ENST00000547838.2_5'UTR|FAM109A_ENST00000392658.5_5'UTR|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000548163.1_5'UTR NM_001177996.1 NP_001171467.1 Q8N4B1 SESQ1_HUMAN family with sequence similarity 109, member A 0 endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity breast(1)|endometrium(1)|lung(1)|ovary(1) 4 GGAGCCTGGGGCCTGGACCCC 0.637000 5 12 0 0 1 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223960 142223960 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:142223960C>T ENST00000390367.3 - 0 223 CACTCTCATCCTGAAATTGAA 0.507000 28 70 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152708285 152708285 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:152708285C>T ENST00000367255.5 - 54 9010 c.8409G>A c.(8407-8409)aaG>aaA p.K2803K SYNE1_ENST00000265368.4_Silent_p.K2803K|SYNE1_ENST00000448038.1_Silent_p.K2810K|SYNE1_ENST00000423061.1_Silent_p.K2810K|SYNE1_ENST00000341594.5_Silent_p.K2842K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2803 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATCCTCTGTCTTTTCGTAGA 0.463000 HNSCC(10;0.0054) 28 85 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34125496 34125496 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:34125496G>A ENST00000297161.2 + 14 1911 c.1537G>A c.(1537-1539)Gga>Aga p.G513R BMPER_ENST00000426693.1_Missense_Mutation_p.G513R NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 513 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGGTGGAGATGGAAACTTCAA 0.468000 77 58 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55922446 55922446 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:55922446C>T ENST00000288221.6 - 14 2790 c.2535G>A c.(2533-2535)agG>agA p.R845R NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 845 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAGCTGTTTCCTCCTCTCAA 0.557000 44 87 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807605 143807605 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:143807605G>A ENST00000408979.2 + 1 999 c.930G>A c.(928-930)atG>atA p.M310I NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AGAGGTCCATGAGAACGGTGT 0.428000 79 167 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153320361 153320361 + Splice_Site SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:153320361C>T ENST00000368739.3 - 2 406 c.49_splice c.e2+1 p.W16_splice PGLYRP4_ENST00000359650.5_Splice_Site_p.W16_splice|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 16 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAACTTACCCCAGGCCTGGA 0.512000 5 27 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617104 1617104 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:1617104G>A ENST00000381580.1 - 3 558 c.379C>T c.(379-381)Cct>Tct p.P127S SIRPG_ENST00000303415.3_Missense_Mutation_p.P160S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.P160S|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.P160S Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 160 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding p.P160T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GTATGCTCAGGTGTGGTCCTC 0.512000 33 61 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113661349 113661349 + RNA SNP A A G rs1713675 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr11:113661349A>G ENST00000393544.2 + 0 1397 GGGTATAGATAACCTGGAAAC 0.478000 5 105 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42530776 42530776 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:42530776C>T ENST00000282030.5 + 4 1767 c.1471C>T c.(1471-1473)Cca>Tca p.P491S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 491 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAAAGTTATCCCAGGAGGTGT 0.502000 Schinzel-Giedion syndrome 56 81 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100151772 100151772 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:100151772C>T ENST00000300176.4 + 5 764 c.642C>T c.(640-642)ccC>ccT p.P214P AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 214 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGCCACCTCCCCACTCCTCTG 0.577000 54 40 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915911 39915911 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:39915911C>T ENST00000425673.1 + 17 4376 c.4051C>T c.(4051-4053)Cct>Tct p.P1351S PLEKHG2_ENST00000458508.2_Silent_p.L1202L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P571S|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P571S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1380S Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1380 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCAGGGGGCTCCTGATGCCCC 0.607000 10 27 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019338 23019338 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrX:23019338C>T ENST00000327968.5 + 1 1252 c.1164C>T c.(1162-1164)ccC>ccT p.P388P RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 388 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 AATTTGAACCCCAGATAAGGA 0.403000 149 28 0 0 1 0 0 ERO1LB 56605 broad.mit.edu 37 1 236433186 236433186 + Missense_Mutation SNP G G A rs142995196 TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:236433186G>A ENST00000354619.5 - 2 412 c.211C>T c.(211-213)Cgt>Tgt p.R71C ERO1LB_ENST00000327333.8_Missense_Mutation_p.R71C NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 71 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding p.R71C(1) NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TTGTAATAACGAAAATAGTCT 0.323000 20 55 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41555585 41555585 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:41555585C>T ENST00000396942.1 - 24 2696 c.2613G>A c.(2611-2613)gtG>gtA p.V871V ANK1_ENST00000396945.1_Silent_p.V871V|ANK1_ENST00000379758.2_Silent_p.V871V|ANK1_ENST00000265709.8_Silent_p.V912V|ANK1_ENST00000352337.4_Silent_p.V871V|ANK1_ENST00000347528.4_Silent_p.V871V|ANK1_ENST00000289734.7_Silent_p.V871V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 871 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTGACCTGATCACCACTGTCT 0.562000 16 18 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14952450 14952450 + Missense_Mutation SNP A A G TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chrY:14952450A>G ENST00000338981.3 + 36 6943 c.5998A>G c.(5998-6000)Atg>Gtg p.M2000V USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2000 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGTGAAATTTATGCATAACCG 0.353000 39 17 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69033271 69033271 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:69033271G>A ENST00000288368.4 + 30 3988 c.3711G>A c.(3709-3711)agG>agA p.R1237R NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1237 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.R1237R(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGAACATCAGGAAATTTGTTG 0.403000 24 54 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38833631 38833631 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr3:38833631G>A ENST00000449082.2 - 2 298 c.299C>T c.(298-300)aCc>aTc p.T100I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 100 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCGGGAAATGGTCCTCCCTTT 0.433000 51 140 0 0 1 0 0 IL20 50604 broad.mit.edu 37 1 207039876 207039876 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr1:207039876G>A ENST00000367098.1 + 4 636 c.273G>A c.(271-273)ctG>ctA p.L91L IL20_ENST00000367096.3_Silent_p.L91L|IL20_ENST00000391930.2_Silent_p.L91L Q9NYY1 IL20_HUMAN interleukin 20 91 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GACTCTATCTGGACAGGGTAT 0.502000 433 248 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680060 100680060 + Missense_Mutation SNP C C T rs145956810 byFrequency TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:100680060C>T ENST00000306151.4 + 3 5427 c.5363C>T c.(5362-5364)tCg>tTg p.S1788L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1788 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S1788L(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCACTTCGTCTCCTACA 0.537000 526 331 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27380539 27380539 + Nonsense_Mutation SNP A A T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:27380539A>T ENST00000323372.4 + 4 912 c.586A>T c.(586-588)Aag>Tag p.K196* PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 196 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CTACCAAGCTAAGAGCTTGGT 0.572000 78 66 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74923628 74923628 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr16:74923628G>A ENST00000262144.6 - 21 2298 c.2168C>T c.(2167-2169)cCa>cTa p.P723L NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 723 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CCGCCCAAATGGATGTCGAGC 0.473000 20 33 0 0 1 0 0 PSMB7 5695 broad.mit.edu 37 9 127177167 127177167 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr9:127177167G>A ENST00000536392.1 - 2 126 c.110C>T c.(109-111)cCa>cTa p.P37L PSMB7_ENST00000259457.3_Missense_Mutation_p.P37L|PSMB7_ENST00000498485.1_5'UTR Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 37 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 CCGGACCTTTGGAAGCTTGTA 0.517000 8 40 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25346726 25346726 + RNA SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr15:25346726C>T ENST00000546682.1 + 0 1475 SNORD116-27_ENST00000516087.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GTGCCTGGATCGATGATGACT 0.423000 21 29 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12692276 12692276 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:12692276G>A ENST00000311437.6 - 5 735 c.613C>T c.(613-615)Cgc>Tgc p.R205C NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 CTGGAGCTGCGAGTGAAGGTT 0.423000 69 74 0 0 1 0 0 GTF2H4 2968 broad.mit.edu 37 6 30880155 30880155 + Missense_Mutation SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:30880155C>T ENST00000259895.4 + 11 1232 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W GTF2H4_ENST00000376316.2_Missense_Mutation_p.R337W NM_001517.4 NP_001508.1 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 52kDa 337 R -> Q (in dbSNP:rs3218820). mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GATGCTCTATCGGTTCCCCAA 0.597000 Nucleotide excision repair (NER) 19 62 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82459706 82459706 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr6:82459706C>T ENST00000369754.3 - 3 1404 c.1092G>A c.(1090-1092)gtG>gtA p.V364V FAM46A_ENST00000320172.6_Silent_p.V345V|FAM46A_ENST00000369756.3_Silent_p.V426V Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 345 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CTTCCAATCCCACAAAGTGGT 0.443000 20 62 0 0 1 0 0 SMOX 54498 broad.mit.edu 37 20 4168039 4168039 + Silent SNP C C T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:4168039C>T ENST00000305958.4 + 7 1878 c.1653C>T c.(1651-1653)ttC>ttT p.F551F SMOX_ENST00000339123.6_Silent_p.F498F|SMOX_ENST00000278795.3_Silent_p.F528F|SMOX_ENST00000346595.2_Silent_p.F186F|SMOX_ENST00000379460.2_Silent_p.F551F NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 551 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GAGACCTCTTCCAGCAGGGGA 0.632000 30 41 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036450 21036450 + Silent SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:21036450G>A ENST00000381545.3 + 13 1815 c.1596G>A c.(1594-1596)agG>agA p.R532R LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.R532R|SLCO1B3_ENST00000553473.1_Silent_p.R532R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 532 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTGTACAAGGAAATTTTTCA 0.373000 19 60 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109719395 109719395 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr12:109719395G>A ENST00000299162.5 - 9 1215 c.1111C>T c.(1111-1113)Ctt>Ttt p.L371F FOXN4_ENST00000355216.1_Missense_Mutation_p.L191F NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 371 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 TCTGGAGCAAGATGTGCCTGG 0.701000 5 14 0 0 1 0 0 IGLL1 3543 broad.mit.edu 37 22 23915669 23915669 + Silent SNP C C A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr22:23915669C>A ENST00000330377.2 - 3 543 c.426G>T c.(424-426)ccG>ccT p.P142P AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 142 C region (By similarity to lambda light- chain).|Ig-like C1-type. P -> L (in a patient with agammaglobulinemia; dbSNP:rs1064422). immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 TCAAGATTCCCGGATAAAAGT 0.582000 36 56 3.6622e-26 3.76235e-26 1 1 0 CHRM2 1129 broad.mit.edu 37 7 136699843 136699843 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:136699843G>A ENST00000445907.2 + 3 759 c.231G>A c.(229-231)atG>atA p.M77I CHRM2_ENST00000402486.3_Missense_Mutation_p.M77I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M77I|CHRM2_ENST00000401861.1_Missense_Mutation_p.M77I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M77I|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M77I|AC009264.1_ENST00000597642.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 77 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TTTTCTCCATGAACTTGTACA 0.478000 196 118 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148512065 148512065 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr7:148512065G>A ENST00000320356.2 - 14 1734 c.1613C>T c.(1612-1614)tCg>tTg p.S538L EZH2_ENST00000350995.2_Missense_Mutation_p.S494L|EZH2_ENST00000483967.1_Missense_Mutation_p.S524L|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000460911.1_Missense_Mutation_p.S533L NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 533 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.S538L(1)|p.S494L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ACAAGGGCACGAACTGTCACA 0.398000 Mis DLBCL 44 23 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 205 --- --- --- --- CCDC125 202243 broad.mit.edu 37 5 68609835 68609847 + Frame_Shift_Del DEL GCCTTAATTCTTC GCCTTAATTCTTC - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr5:68609835_68609847delGCCTTAATTCTTC ENST00000396496.2 - 3 438_450 c.331_343delGAAGAATTAAGGC c.(331-345)aafs p.EELRQ111fs CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Frame_Shift_Del_p.EELRQ110fs|CCDC125_ENST00000396499.1_Frame_Shift_Del_p.EELRQ111fs Q86Z20 CC125_HUMAN coiled-coil domain containing 125 111 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TTAAGACATTGCCTTAATTCTTCATTTGACAAT 0.362 45 83 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 10 55 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144620643 144620652 + Frame_Shift_Del DEL AACCAGCGAG AACCAGCGAG - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr8:144620643_144620652delAACCAGCGAG ENST00000262577.5 - 2 916_925 c.885_894delCTCGCTGGTT c.(883-894)gcfs p.ASLV295fs NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 295 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GACAGGTCACAACCAGCGAGGCCTCCCGGG 0.629 9 122 --- --- --- --- NARF 26502 broad.mit.edu 37 17 80436763 80436763 + Frame_Shift_Del DEL C C - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr17:80436763delC ENST00000390006.4 + 6 905 c.431delC c.(430-432)ttfs p.S144fs NARF_ENST00000345415.7_Frame_Shift_Del_p.S155fs|NARF_ENST00000309794.10_Frame_Shift_Del_p.S203fs|NARF_ENST00000457415.3_Frame_Shift_Del_p.S203fs|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_Frame_Shift_Del_p.S75fs NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 203 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GTCATGGGCTCTTTGGTGAAG 0.642 35 23 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74592200 74592217 + In_Frame_Del DEL GGAGTCGGGGCAGTCCCC GGAGTCGGGGCAGTCCCC - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr18:74592200_74592217delGGAGTCGGGGCAGTCCCC ENST00000253159.8 + 8 1308_1325 c.1110_1127delGGAGTCGGGGCAGTCCCC c.(1108-1128)gtg>gt p.VESGQSP370del ZNF236_ENST00000320610.9_In_Frame_Del_p.VESGQSP372del NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 370 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CGGCGCCGGTGGAGTCGGGGCAGTCCCCGCAGCCTGGG 0.651 20 33 --- --- --- --- FBXO17 115290 broad.mit.edu 37 19 39439219 39439221 + In_Frame_Del DEL ACG ACG - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:39439219_39439221delACG ENST00000292852.4 - 3 788_790 c.447_449delCGT c.(445-450)ttg>tt p.FV149del SARS2_ENST00000448145.2_5'UTR|FBXO17_ENST00000595329.1_In_Frame_Del_p.FV149del|CTC-360G5.8_ENST00000599996.1_In_Frame_Del_p.R54del NM_024907.5 NP_079183.4 F-box protein 17 breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 7 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GAAAGAGGTCACGAAGCAGGTCT 0.621 28 40 --- --- --- --- ZNF320 162967 broad.mit.edu 37 19 53384769 53384770 + Frame_Shift_Ins INS - - AT TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr19:53384769_53384770insAT ENST00000595635.1 - 8 1110_1111 c.609_610insAT c.(607-612)catggcfs p.HG203fs ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Frame_Shift_Ins_p.HG203fs NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TGTTTTGCCAGGTGTGAATCAT 0.371 15 87 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0830b83e-feae-4407-902a-4d8955114214 98a4eb03-7971-40f6-8507-deba2565754a g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 7 88 --- --- --- ---