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 FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - GGA GGA TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:152276467_152276468insGGA uc001ezu.1 - 3 10930_10931 c.10894_10895insTCC c.(10894-10896)CAG>CTCCAG p.3631_3632insL NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3631_3632 Filaggrin 22.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis TDRD10 126668 broad.mit.edu 37 1 154516937 154516937 + Silent SNP C T T rs151222618 byFrequency TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:154516937C>T uc009wow.2 + 10 1579 c.741C>T c.(739-741)CGC>CGT p.R247R TDRD10_uc001ffd.2_Silent_p.R247R|TDRD10_uc001ffe.2_Silent_p.R168R NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 247 Tudor. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCGTTATGCGCGGGACTCGCT 0.632 LY9 4063 broad.mit.edu 37 1 160784327 160784327 + Missense_Mutation SNP T G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:160784327T>G uc001fwu.2 + 4 898 c.848T>G c.(847-849)TTG>TGG p.L283W LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.2_Missense_Mutation_p.L283W|LY9_uc001fww.2_Missense_Mutation_p.L283W|LY9_uc001fwx.2_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.2_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 283 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTTGTCTGGTTGTTTAACACA 0.547 CR2 1380 broad.mit.edu 37 1 207647215 207647215 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:207647215C>T uc001hfw.2 + 11 2142 c.2048C>T c.(2047-2049)ACG>ATG p.T683M CR2_uc001hfv.2_Missense_Mutation_p.T742M|CR2_uc009xch.2_Missense_Mutation_p.T683M NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 683 Sushi 11.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CTAGTTAATACGTCCTGCCAA 0.438 ACBD3 64746 broad.mit.edu 37 1 226347010 226347010 + Missense_Mutation SNP G C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:226347010G>C uc001hpy.2 - 5 825 c.778C>G c.(778-780)CAG>GAG p.Q260E NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 260 Gln-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) GCTGCATACTGCTGGAACTGC 0.448 NUP133 55746 broad.mit.edu 37 1 229577744 229577744 + Silent SNP T C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:229577744T>C uc001htn.2 - 26 3470 c.3378A>G c.(3376-3378)CTA>CTG p.L1126L NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1126 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GATCCGCTTGTAGCAGGTCTT 0.343 OR13G1 441933 broad.mit.edu 37 1 247836129 247836129 + Missense_Mutation SNP G T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:247836129G>T uc001idi.1 - 1 215 c.215C>A c.(214-216)ACA>AAA p.T72K NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TATGATGCTTGTTGTGCAGAT 0.443 OR2L8 391190 broad.mit.edu 37 1 248112665 248112665 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr1:248112665G>A uc001idt.1 + 1 506 c.506G>A c.(505-507)CGA>CAA p.R169Q OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCTTATTGCCGATCCAGGGCC 0.478 ANXA8 653145 broad.mit.edu 37 10 47158869 47158869 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr10:47158869C>T uc001jeh.2 - 12 1074 c.952G>A c.(952-954)GCC>ACC p.A318T ANXA8_uc001jed.3_Intron|ANXA8_uc010qfr.1_Missense_Mutation_p.A422T|ANXA8_uc010qfs.1_Missense_Mutation_p.A322T|ANXA8_uc010qft.1_RNA|ANXA8L1_uc010qfu.1_Missense_Mutation_p.A139T NM_001098845 NP_001092315 P13928 ANXA8_HUMAN annexin A8-like 1 318 Annexin 4. blood coagulation calcium ion binding|calcium-dependent phospholipid binding central_nervous_system(3) 3 CTCAGCAGGGCGTTCTTGTAG 0.597 ANO5 203859 broad.mit.edu 37 11 22291884 22291884 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr11:22291884G>A uc001mqi.2 + 18 2242 c.1925G>A c.(1924-1926)CGA>CAA p.R642Q ANO5_uc001mqj.2_Missense_Mutation_p.R641Q NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 642 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TGGAGACGCCGAAAAGCTCGG 0.413 Unknown 0 broad.mit.edu 37 11 30953328 30953328 + Missense_Mutation SNP G A A rs150997514 byFrequency TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr11:30953328G>A uc009yjk.1 - 10 1300 c.1231C>T c.(1231-1233)CGG>TGG p.R411W uc009yjl.1_3'UTR RecName: Full=Doublecortin domain-containing protein 5; TGCGTTTTCCGTCCAGGTGAG 0.378 GDPD4 220032 broad.mit.edu 37 11 76956338 76956338 + Silent SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr11:76956338G>A uc001oyf.2 - 11 1325 c.1074C>T c.(1072-1074)ATC>ATT p.I358I NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 358 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 GATGTTGCTCGATTTTAGAGG 0.438 GRM5 2915 broad.mit.edu 37 11 88338071 88338071 + Silent SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr11:88338071G>A uc001pcq.2 - 4 1409 c.1209C>T c.(1207-1209)GCC>GCT p.A403A GRM5_uc009yvm.2_Silent_p.A403A NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 403 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCGAATAGATGGCGTTGATCA 0.458 NAALAD2 10003 broad.mit.edu 37 11 89902152 89902152 + Missense_Mutation SNP C G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr11:89902152C>G uc001pdf.3 + 12 1443 c.1334C>G c.(1333-1335)TCT>TGT p.S445C NAALAD2_uc009yvx.2_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 445 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCGGATTCATCTATAGAAGGT 0.294 APOF 319 broad.mit.edu 37 12 56755752 56755752 + Missense_Mutation SNP C G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr12:56755752C>G uc001sle.1 - 2 292 c.238G>C c.(238-240)GCC>CCC p.A80P NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 80 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 GGTAGAGGGGCCATGTGGCTG 0.547 R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC - - TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr12:57674205_57674207delTGC uc009zpm.1 - 12 1271_1273 c.1236_1238delGCA c.(1234-1239)CAGCAA>CAA p.412_413QQ>Q R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q|R3HDM2_uc009zpn.1_In_Frame_Del_p.35_36QQ>Q NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412_413 Gln-rich. nucleus nucleic acid binding ovary(2) 2 AGCAGGAAGTtgctgctgctgct 0.488 MDM1 56890 broad.mit.edu 37 12 68716856 68716856 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr12:68716856C>T uc001stz.2 - 5 934 c.798G>A c.(796-798)AGG>AGA p.R266R MDM1_uc010stc.1_Silent_p.R221R|MDM1_uc009zqv.1_5'UTR NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 266 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TGAATACCTTCCTTTCAGGAG 0.328 RALGAPA1 253959 broad.mit.edu 37 14 36211763 36211763 + Silent SNP T C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr14:36211763T>C uc001wti.2 - 11 1651 c.1260A>G c.(1258-1260)TTA>TTG p.L420L RALGAPA1_uc001wtj.2_Silent_p.L420L|RALGAPA1_uc010tpv.1_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 420 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AAATTGGTAATAAAAATGCCT 0.308 RFX7 64864 broad.mit.edu 37 15 56435018 56435018 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr15:56435018G>A uc010bfn.2 - 4 359 c.359C>T c.(358-360)CCG>CTG p.P120L NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 23 RFX-type winged-helix. regulation of transcription, DNA-dependent nucleus DNA binding 0 TGAAGTCTCCGGATGTTCCTC 0.388 WDR90 197335 broad.mit.edu 37 16 703568 703568 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr16:703568C>T uc002cii.1 + 12 1331 c.1277C>T c.(1276-1278)TCG>TTG p.S426L WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 426 WD 1. ovary(1) 1 Hepatocellular(780;0.0218) CTATTGGCCTCGGCCCAGGCA 0.657 CORO7 79585 broad.mit.edu 37 16 4391505 4391505 + Missense_Mutation SNP G C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr16:4391505G>C uc002cwf.2 - 29 3301 c.2858C>G c.(2857-2859)GCC>GGC p.A953G CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.A30G NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GGCCCGGCTGGCTGTGTGGAC 0.657 SLC25A11 8402 broad.mit.edu 37 17 4842250 4842250 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:4842250C>T uc002fzo.1 - 3 382 c.269G>A c.(268-270)CGT>CAT p.R90H SLC25A11_uc002fzp.1_Missense_Mutation_p.R86H|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 90 Helical; Name=2; (Potential).|Solcar 1. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 GGTGGCCTGACGCAGCAGGCC 0.612 TMEM102 284114 broad.mit.edu 37 17 7340213 7340213 + Silent SNP T A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:7340213T>A uc002ggx.1 + 3 1188 c.915T>A c.(913-915)GCT>GCA p.A305A FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 305 Cytoplasmic (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) TCCTCCTGGCTACCCCTGAGC 0.721 KRBA2 124751 broad.mit.edu 37 17 8274702 8274702 + Missense_Mutation SNP T G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:8274702T>G uc002glf.1 - 1 157 c.151A>C c.(151-153)AAT>CAT p.N51H KRBA2_uc002glg.1_Intron NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 51 KRAB. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 TCTAAATAATTCCAATCTTTG 0.453 UNC45B 146862 broad.mit.edu 37 17 33497185 33497185 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:33497185G>A uc002hja.2 + 12 1697 c.1600G>A c.(1600-1602)GGC>AGC p.G534S UNC45B_uc002hjb.2_Missense_Mutation_p.G534S|UNC45B_uc002hjc.2_Missense_Mutation_p.G534S|UNC45B_uc010cto.2_Intron NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 534 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GGCAGTGGAGGGCCTGGCCTA 0.627 TMC6 11322 broad.mit.edu 37 17 76120076 76120076 + Missense_Mutation SNP A C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:76120076A>C uc002juj.1 - 8 1202 c.1076T>G c.(1075-1077)GTG>GGG p.V359G TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.3_Missense_Mutation_p.V150G|TMC6_uc002jun.3_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 359 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TTACCTGTACACCAGGGTGAT 0.428 Epidermodysplasia_Verruciformis_Familial_Clustering_of CANT1 124583 broad.mit.edu 37 17 76989644 76989644 + Missense_Mutation SNP G C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:76989644G>C uc002jwn.2 - 6 1633 c.1194C>G c.(1192-1194)ATC>ATG p.I398M CANT1_uc002jwk.2_Missense_Mutation_p.I398M|CANT1_uc002jwj.2_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 398 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AAATGAACTCGATGCCTTCGT 0.478 T ETV4 prostate OREG0024788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RPTOR 57521 broad.mit.edu 37 17 78797000 78797000 + Silent SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr17:78797000G>A uc002jyt.1 + 9 1918 c.1113G>A c.(1111-1113)CCG>CCA p.P371P RPTOR_uc002jys.2_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 371 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CGCGTCTGCCGCCCACGTACA 0.562 TMX3 54495 broad.mit.edu 37 18 66377374 66377374 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr18:66377374G>A uc002lkf.2 - 4 284 c.149C>T c.(148-150)GCG>GTG p.A50V TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.3_Missense_Mutation_p.A50V NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 50 Thioredoxin.|Lumenal (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 ACACCATGGCGCATAAAACTT 0.323 RTTN 25914 broad.mit.edu 37 18 67718690 67718690 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr18:67718690C>T uc002lkp.2 - 39 5348 c.5280G>A c.(5278-5280)CCG>CCA p.P1760P RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1760 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CGGTAACAAACGGGAGTGTGA 0.428 ODF3L2 284451 broad.mit.edu 37 19 463966 463966 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:463966C>T uc002lor.2 - 4 984 c.748G>A c.(748-750)GTG>ATG p.V250M SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.V214M NM_182577 NP_872383 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 250 DUF1309 3. 0 GCTTTGTTCACGGTGACCTGC 0.627 PIAS4 51588 broad.mit.edu 37 19 4012940 4012940 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:4012940G>A uc002lzg.2 + 2 57 c.47G>A c.(46-48)CGA>CAA p.R16Q NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 16 SAP. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) ATGAGTTTTCGAGTCTCCGAC 0.597 ICAM4 3386 broad.mit.edu 37 19 10398368 10398368 + Missense_Mutation SNP C G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:10398368C>G uc002mns.1 + 2 590 c.551C>G c.(550-552)ACC>AGC p.T184S ICAM4_uc002mnr.1_Missense_Mutation_p.H158Q|ICAM4_uc002mnt.1_Missense_Mutation_p.T184S|ICAM5_uc002mnu.3_5'Flank NM_001544 NP_001535 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 isoform 1 184 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GAGCGCTTCACCGGCCTGGAT 0.627 RGL3 57139 broad.mit.edu 37 19 11526629 11526629 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:11526629C>T uc002mrp.2 - 5 685 c.621G>A c.(619-621)CCG>CCA p.P207P RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.P207P NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 207 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 ACACCTGAGGCGGCTCCTCTT 0.567 ZNF91 7644 broad.mit.edu 37 19 23545038 23545038 + Missense_Mutation SNP T C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:23545038T>C uc002nre.2 - 4 856 c.743A>G c.(742-744)AAG>AGG p.K248R ZNF91_uc010xrj.1_Missense_Mutation_p.K216R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 248 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGAGAGCTGCTTAAAAGCTTT 0.363 HIPK4 147746 broad.mit.edu 37 19 40886782 40886782 + Silent SNP C T T rs148513270 byFrequency TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:40886782C>T uc002onp.2 - 3 1401 c.1116G>A c.(1114-1116)TCG>TCA p.S372S NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 372 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCACTTGCAGCGAGAGGCGGT 0.667 NLRP11 204801 broad.mit.edu 37 19 56320789 56320789 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:56320789C>T uc010ygf.1 - 5 1898 c.1187G>A c.(1186-1188)CGT>CAT p.R396H NLRP11_uc002qlz.2_Missense_Mutation_p.R297H|NLRP11_uc002qmb.2_Missense_Mutation_p.R297H|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 396 NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAAACACAGACGTTTTAGGAG 0.493 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr19:58385762C>G uc002qqo.2 - 3 1268 c.996G>C c.(994-996)TCG>TCC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ATTTGCTAAACGATTTCCCAC 0.358 SLC3A1 6519 broad.mit.edu 37 2 44527119 44527119 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr2:44527119C>T uc002ruc.3 + 5 979 c.901C>T c.(901-903)CGG>TGG p.R301W SLC3A1_uc002rty.2_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.2_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.3_Missense_Mutation_p.R23W NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 301 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GGAAATTTTACGGTTCTGGCT 0.363 TSPYL6 388951 broad.mit.edu 37 2 54483145 54483145 + Silent SNP C G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr2:54483145C>G uc002rxr.2 - 1 265 c.144G>C c.(142-144)GTG>GTC p.V48V ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 48 nucleosome assembly nucleus 0 GCGGTGGGAACACGATTGGCT 0.607 C2orf62 375307 broad.mit.edu 37 2 219222293 219222293 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr2:219222293C>T uc002vhr.2 + 3 184 c.155C>T c.(154-156)ACG>ATG p.T52M C2orf62_uc002vhs.2_RNA NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 52 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCTCTGAGACGCTGGCCATG 0.577 DES 1674 broad.mit.edu 37 2 220290674 220290674 + Missense_Mutation SNP G A A rs73991549 byFrequency TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr2:220290674G>A uc002vll.2 + 9 1461 c.1375G>A c.(1375-1377)GTC>ATC p.V459I NM_001927 NP_001918 P17661 DESM_HUMAN desmin 459 Tail. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton p.V459I(1) central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCCCAGGTCGTCAGTGAGGC 0.607 SEMG1 6406 broad.mit.edu 37 20 43836290 43836290 + Missense_Mutation SNP A G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr20:43836290A>G uc002xni.2 + 2 409 c.352A>G c.(352-354)AAA>GAA p.K118E SEMG1_uc002xnj.2_Missense_Mutation_p.K118E|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.K118E NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 118 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) AGACCATGATAAATCAAAAGG 0.408 MC3R 4159 broad.mit.edu 37 20 54824329 54824329 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr20:54824329G>A uc002xxb.2 + 1 542 c.430G>A c.(430-432)GTC>ATC p.V144I NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 181 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CGACAGGTACGTCACCATCTT 0.582 ITGB2 3689 broad.mit.edu 37 21 46320234 46320234 + Splice_Site SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr21:46320234C>T uc002zgd.2 - 6 941 c.897_splice c.e6+1 p.F299_splice ITGB2_uc002zge.2_Splice_Site_p.F299_splice|ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity p.?(1) ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) TGGGGACTTACGAATTCGTTG 0.632 LOC644165 644165 broad.mit.edu 37 22 25041687 25041687 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr22:25041687G>A uc011ajv.1 + 3 674 c.317G>A c.(316-318)CGG>CAG p.R106Q POM121L10P_uc003aaz.3_RNA|POM121L10P_uc003abc.2_RNA NR_024494 Homo sapiens cDNA FLJ57042 complete cds, moderately similar to Breakpoint cluster region protein (EC 2.7.11.1). 0 AGGGGTCTTCGGAGTCAAGAT 0.542 SGSM1 129049 broad.mit.edu 37 22 25315903 25315903 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr22:25315903C>T uc003abg.2 + 25 3458 c.3301C>T c.(3301-3303)CGT>TGT p.R1101C SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 1101 Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 GGAAGTCTACCGTGACATCAT 0.507 THOC5 8563 broad.mit.edu 37 22 29913061 29913061 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr22:29913061C>T uc003afr.2 - 18 1973 c.1638G>A c.(1636-1638)GGG>GGA p.G546G THOC5_uc003afq.2_Silent_p.G207G|THOC5_uc003afs.2_Silent_p.G546G|THOC5_uc003aft.2_Silent_p.G546G|THOC5_uc003afu.2_Silent_p.G546G|THOC5_uc010gvo.2_Silent_p.G290G NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 546 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 GATTGGTGTCCCCAGCCAGTC 0.527 KCNH8 131096 broad.mit.edu 37 3 19575121 19575121 + Missense_Mutation SNP A T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr3:19575121A>T uc003cbk.1 + 16 3049 c.2854A>T c.(2854-2856)AGT>TGT p.S952C KCNH8_uc010hex.1_Missense_Mutation_p.S413C NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 952 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 ACTTTGTAGCAGTAATATCAC 0.532 CCR8 1237 broad.mit.edu 37 3 39374303 39374303 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr3:39374303G>A uc010hhr.2 + 2 619 c.481G>A c.(481-483)GCC>ACC p.A161T CCR8_uc003cjm.2_Missense_Mutation_p.A78T NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 161 Helical; Name=4; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) ATGGCTAACCGCCATTATGGC 0.488 MST1 4485 broad.mit.edu 37 3 49724141 49724144 + Frame_Shift_Del DEL CTCG - - TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr3:49724141_49724144delCTCG uc003cxg.2 - 7 892_895 c.820_823delCGAG c.(820-825)CGAGAGfs p.R274fs MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 260_261 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCACAGAACTCTCGCTCGATCTGC 0.662 COL6A6 131873 broad.mit.edu 37 3 130284156 130284156 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr3:130284156G>A uc010htl.2 + 3 1011 c.980G>A c.(979-981)CGG>CAG p.R327Q NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 327 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AATGGCAGTCGGAAGAATCAG 0.532 AMBN 258 broad.mit.edu 37 4 71467259 71467259 + Missense_Mutation SNP T A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr4:71467259T>A uc003hfl.2 + 6 494 c.419T>A c.(418-420)CTG>CAG p.L140Q NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 140 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) GCCACAGCACTGAAAGAAGCA 0.557 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADAM29 11086 broad.mit.edu 37 4 175896768 175896768 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr4:175896768C>T uc003iuc.2 + 5 762 c.92C>T c.(91-93)CCG>CTG p.P31L ADAM29_uc003iud.2_Missense_Mutation_p.P31L|ADAM29_uc010irr.2_Missense_Mutation_p.P31L|ADAM29_uc011cki.1_Missense_Mutation_p.P31L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 31 P -> L (in a colorectal cancer sample; somatic mutation). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.P31L(1) skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CACAGCCCTCCGGATGTGGTG 0.517 ZDHHC11 79844 broad.mit.edu 37 5 837585 837585 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr5:837585C>T uc011cma.1 - 6 1179 c.795G>A c.(793-795)AAG>AAA p.K265K ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 265 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AGGTGGTCATCTTCTTGGCCT 0.502 EDIL3 10085 broad.mit.edu 37 5 83433171 83433171 + Silent SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr5:83433171G>A uc003kio.1 - 5 776 c.357C>T c.(355-357)AAC>AAT p.N119N EDIL3_uc003kip.1_Silent_p.N109N NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 119 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 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) ATTCATTTATGTCTAAGAAAA 0.338 PCDHGA10 56106 broad.mit.edu 37 5 140794507 140794507 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr5:140794507G>A uc003lkl.1 + 1 1765 c.1765G>A c.(1765-1767)GGC>AGC p.G589S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G589S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 589 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGAGCCCGGCTACCTGGT 0.677 TRIM38 10475 broad.mit.edu 37 6 25966964 25966964 + Nonsense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr6:25966964C>T uc003nfm.2 + 3 649 c.214C>T c.(214-216)CGA>TGA p.R72* TRIM38_uc003nfn.2_Nonsense_Mutation_p.R72* NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 72 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 GGATAGCCTCCGACCCAACAA 0.498 HLA-F 3134 broad.mit.edu 37 6 29694676 29694676 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr6:29694676C>T uc003nno.3 + 7 1177 c.1053C>T c.(1051-1053)AGC>AGT p.S351S HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 CAGTGGTCAGCGGAAACTTGA 0.493 CRISP3 10321 broad.mit.edu 37 6 49704218 49704218 + Silent SNP A G G TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr6:49704218A>G uc003ozs.2 - 3 90 c.75T>C c.(73-75)GAT>GAC p.D25D NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 25 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TAAAAGCGGGATCCTAAGGGA 0.363 POM121L12 285877 broad.mit.edu 37 7 53103391 53103391 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:53103391C>T uc003tpz.2 + 1 43 c.27C>T c.(25-27)TCC>TCT p.S9S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 9 0 CGGCCGAGTCCGCAGACCTCG 0.697 EGFR 1956 broad.mit.edu 37 7 55211080 55211080 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:55211080G>A uc003tqk.2 + 3 569 c.323G>A c.(322-324)AGA>AAA p.R108K EGFR_uc003tqh.2_Missense_Mutation_p.R108K|EGFR_uc003tqi.2_Missense_Mutation_p.R108K|EGFR_uc003tqj.2_Missense_Mutation_p.R108K|EGFR_uc010kzg.1_Missense_Mutation_p.R108K|EGFR_uc011kco.1_Missense_Mutation_p.R55K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 108 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R108K(7)|p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGATCATCAGAGGAAATATG 0.423 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233036 55233036 + Missense_Mutation SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:55233036C>T uc003tqk.2 + 15 2032 c.1786C>T c.(1786-1788)CCG>TCG p.P596S EGFR_uc003tqi.2_Missense_Mutation_p.P596S|EGFR_uc003tqj.2_Missense_Mutation_p.P596S|EGFR_uc010kzg.1_Missense_Mutation_p.P551S|EGFR_uc011kco.1_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 596 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P596L(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAAGACCTGCCCGGCAGGAGT 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G C C rs139236063 TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:55233043G>C uc003tqk.2 + 15 2039 c.1793G>C c.(1792-1794)GGA>GCA p.G598A EGFR_uc003tqi.2_Missense_Mutation_p.G598A|EGFR_uc003tqj.2_Missense_Mutation_p.G598A|EGFR_uc010kzg.1_Missense_Mutation_p.G553A|EGFR_uc011kco.1_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82764904 82764904 + Silent SNP C T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:82764904C>T uc003uhx.2 - 3 2251 c.1962G>A c.(1960-1962)CCG>CCA p.P654P PCLO_uc003uhv.2_Silent_p.P654P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 600 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGGGTGATGACGGAACTGGAG 0.478 NPTX2 4885 broad.mit.edu 37 7 98254472 98254472 + Silent SNP C T T rs149672697 TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:98254472C>T uc003upl.2 + 3 1059 c.882C>T c.(880-882)AAC>AAT p.N294N NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 294 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.N294N(1) central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TGCTCATCAACGACAAGGTGA 0.667 LAMB1 3912 broad.mit.edu 37 7 107600136 107600136 + Missense_Mutation SNP G A A rs140619520 TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:107600136G>A uc003vew.2 - 19 2793 c.2458C>T c.(2458-2460)CCT>TCT p.P820S LAMB1_uc003vev.2_Missense_Mutation_p.P844S|LAMB1_uc003vex.2_Missense_Mutation_p.R820C NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 820 Laminin EGF-like 6. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAACCTACGTTTGCATCCA 0.527 ASB15 142685 broad.mit.edu 37 7 123276864 123276864 + Silent SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:123276864G>A uc003vku.1 + 12 1888 c.1596G>A c.(1594-1596)GAG>GAA p.E532E ASB15_uc003vkw.1_Silent_p.E532E NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 532 SOCS box. intracellular signal transduction skin(2)|lung(1) 3 TTCTTTTAGAGAATCCTTGTT 0.383 NUP205 23165 broad.mit.edu 37 7 135300745 135300745 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr7:135300745G>A uc003vsw.2 + 24 3423 c.3392G>A c.(3391-3393)CGT>CAT p.R1131H NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1131 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TCTCTGAATCGTCAGCGGTCA 0.403 TRPA1 8989 broad.mit.edu 37 8 72948640 72948640 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr8:72948640G>A uc003xza.2 - 21 2613 c.2438C>T c.(2437-2439)ACG>ATG p.T813M uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 813 Helical; Name=3; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GATGCCCGTCGTGTAGATAAT 0.363 SPTAN1 6709 broad.mit.edu 37 9 131395212 131395212 + Missense_Mutation SNP T A A rs148173166 TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr9:131395212T>A uc004bvl.3 + 55 7384 c.7271T>A c.(7270-7272)GTG>GAG p.V2424E SPTAN1_uc004bvm.3_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.3_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.3_Missense_Mutation_p.V191E|SPTAN1_uc004bvp.3_Missense_Mutation_p.V167E NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2424 EF-hand 3. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AAGCCTTACGTGACCAAGGAG 0.547 C9orf171 389799 broad.mit.edu 37 9 135374872 135374872 + Missense_Mutation SNP G C C TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chr9:135374872G>C uc004cbn.2 + 4 565 c.517G>C c.(517-519)GAG>CAG p.E173Q C9orf171_uc004cbo.2_Missense_Mutation_p.E137Q NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 173 ovary(4)|large_intestine(1) 5 GACTGCCCGGGAGAACTTGCT 0.592 FAM46D 169966 broad.mit.edu 37 X 79699116 79699116 + Missense_Mutation SNP A T T TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chrX:79699116A>T uc004edl.1 + 5 1412 c.1078A>T c.(1078-1080)AGG>TGG p.R360W FAM46D_uc004edm.1_Missense_Mutation_p.R360W NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 360 lung(2) 2 AGCTGAGGCAAGGTACCCTAT 0.428 SPRY3 10251 broad.mit.edu 37 X 155004303 155004303 + Missense_Mutation SNP G A A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 14580533-4a0c-47ca-bb51-c233700de35c afd6f8db-e121-4613-ab8d-154b04e013bf g.chrX:155004303G>A uc004fnq.1 + 2 1224 c.770G>A c.(769-771)CGA>CAA p.R257Q SPRY3_uc010nvl.1_Missense_Mutation_p.R158Q NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 257 SPR.|Cys-rich. multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGCCTCCGGCGACCAGGCTGC 0.582