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_status validation_method validation_tumor_sample validation_alt_allele filter PTCHD2 57540 broad.mit.edu 37 1 11561290 11561290 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:11561290G>A uc001ash.3 + 2 379 c.241G>A c.(241-243)GGC>AGC p.G81S PTCHD2_uc001asi.1_Missense_Mutation_p.G81S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 81 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTCTTCCTGGGCTGCAGCAT 0.612 13 32 --- --- --- --- PASS CLCNKA 1187 broad.mit.edu 37 1 16355720 16355720 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:16355720C>A uc001axu.2 + 12 1233 c.1153C>A c.(1153-1155)CAG>AAG p.Q385K CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.Q385K|CLCNKA_uc010obw.1_Missense_Mutation_p.Q342K|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Missense_Mutation_p.Q32K|CLCNKA_uc010oby.1_Missense_Mutation_p.P114Q NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 385 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCTCGACCCCCAGCACCTTTG 0.622 24 16 --- --- --- --- PASS PAX7 5081 broad.mit.edu 37 1 19018313 19018313 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:19018313C>A uc001bay.2 + 5 1250 c.652C>A c.(652-654)CGA>AGA p.R218R PAX7_uc001baz.2_Silent_p.R216R|PAX7_uc010oct.1_Silent_p.R218R NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 218 Homeobox. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) GCGCAAGCAGCGACGCAGTCG 0.642 T FOXO1A alveolar rhabdomyosarcoma 6 1 --- --- --- --- PASS KIAA0754 643314 broad.mit.edu 37 1 39876375 39876375 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:39876375G>T uc009vvt.1 + 1 1200 c.438G>T c.(436-438)GAG>GAT p.E146D MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 10 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) AATTTGCAGAGAGGATAGAAG 0.478 5 103 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44084851 44084851 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:44084851G>T uc001cjr.2 + 27 4964 c.4624G>T c.(4624-4626)GGG>TGG p.G1542W PTPRF_uc001cjs.2_Missense_Mutation_p.G1533W|PTPRF_uc001cju.2_Missense_Mutation_p.G931W|PTPRF_uc009vwt.2_Missense_Mutation_p.G1102W|PTPRF_uc001cjv.2_Missense_Mutation_p.G1013W|PTPRF_uc001cjw.2_Missense_Mutation_p.G768W NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1542 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTAGACGCAGGGCCCATGGT 0.642 12 3 --- --- --- --- PASS USP1 7398 broad.mit.edu 37 1 62916148 62916148 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:62916148G>T uc001daj.1 + 9 2182 c.1854G>T c.(1852-1854)ATG>ATT p.M618I USP1_uc001dak.1_Missense_Mutation_p.M618I|USP1_uc001dal.1_Missense_Mutation_p.M618I NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 618 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TTGACCAAATGTGTGAAATAG 0.378 11 20 --- --- --- --- PASS ANKRD13C 81573 broad.mit.edu 37 1 70819844 70819844 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:70819844G>A uc001dex.3 - 1 574 c.248C>T c.(247-249)TCC>TTC p.S83F ANKRD13C_uc009wbk.2_Missense_Mutation_p.S83F|ANKRD13C_uc001dey.3_Missense_Mutation_p.S83F|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 83 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 AGTCACGGAGGAATTGTGCAG 0.652 9 19 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152323767 152323767 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:152323767G>A uc001ezw.3 - 3 6568 c.6495C>T c.(6493-6495)TCC>TCT p.S2165S uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2165 Filaggrin 10. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCTGTGTGGACTGTCCAT 0.507 36 175 --- --- --- --- PASS MEF2D 4209 broad.mit.edu 37 1 156450735 156450735 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:156450735C>T uc001fpc.2 - 4 677 c.287G>A c.(286-288)TGC>TAC p.C96Y MEF2D_uc001fpb.2_Missense_Mutation_p.C96Y|MEF2D_uc001fpd.2_Missense_Mutation_p.C96Y|MEF2D_uc001fpe.1_Missense_Mutation_p.C96Y|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 96 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGCTGTCGCAGCCGTTGAA 0.672 OREG0013874 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 31 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158908982 158908982 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:158908982G>A uc001ftb.2 + 4 769 c.524G>A c.(523-525)CGT>CAT p.R175H PYHIN1_uc001fta.3_Missense_Mutation_p.R175H|PYHIN1_uc001ftc.2_Missense_Mutation_p.R166H|PYHIN1_uc001ftd.2_Missense_Mutation_p.R175H|PYHIN1_uc001fte.2_Missense_Mutation_p.R166H NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 175 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GCCATGGGCCGTTCCCCACCT 0.532 12 75 --- --- --- --- PASS FCGR3A 2214 broad.mit.edu 37 1 161518242 161518242 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:161518242G>T uc001gat.3 - 4 425 c.288C>A c.(286-288)CTC>CTA p.L96L FCGR3A_uc001gar.2_Silent_p.L132L|FCGR3A_uc001gas.2_Silent_p.L131L|FCGR3A_uc009wuh.2_Silent_p.L95L|FCGR3A_uc009wui.2_Silent_p.L96L NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 96 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCGGGTCACTGAGGGTGGAGA 0.512 13 105 --- --- --- --- PASS FCGR3B 2215 broad.mit.edu 37 1 161599599 161599599 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:161599599G>T uc009wul.2 - 3 562 c.288C>A c.(286-288)CTC>CTA p.L96L NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 96 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCGGGTCACTGAGGGTGGAGA 0.502 6 57 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178425887 178425887 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:178425887G>A uc001glr.2 + 11 1945 c.1820G>A c.(1819-1821)CGT>CAT p.R607H RASAL2_uc001glq.2_Missense_Mutation_p.R748H|RASAL2_uc009wxc.2_Missense_Mutation_p.R121H NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 607 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CCTCTCCCTCGTGTTCTTGCT 0.453 53 214 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276983 186276983 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:186276983G>T uc001gru.3 + 7 2183 c.2132G>T c.(2131-2133)GGG>GTG p.G711V PRG4_uc001grt.3_Missense_Mutation_p.G670V|PRG4_uc009wyl.2_Missense_Mutation_p.G618V|PRG4_uc009wym.2_Missense_Mutation_p.G577V|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 711 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACCCCTAAAGGGACTGCTCCA 0.587 7 192 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200183203 200183203 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:200183203C>A uc009wzi.1 + 1 548 c.512C>A c.(511-513)GCC>GAC p.A171D NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 171 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) ACCCCCGTTGCCGTCACTGCC 0.632 8 31 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203025576 203025576 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:203025576C>A uc001gyz.2 + 5 1255 c.662C>A c.(661-663)CCC>CAC p.P221H PPFIA4_uc009xaj.2_Missense_Mutation_p.P852H|PPFIA4_uc010pqf.1_Missense_Mutation_p.P434H|PPFIA4_uc001gza.2_Missense_Mutation_p.P221H|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 221 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CCTTCCTCACCCAGGACGCTG 0.572 4 30 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221913078 221913078 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:221913078C>T uc001hmy.1 - 2 191 c.9G>A c.(7-9)CCG>CCA p.P3P DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 3 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) CTAAAGGAGACGGAGGCATGA 0.483 37 27 --- --- --- --- PASS TTC13 79573 broad.mit.edu 37 1 231047278 231047278 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:231047278G>A uc001huf.3 - 20 2278 c.2247C>T c.(2245-2247)TGC>TGT p.C749C TTC13_uc009xfi.2_Silent_p.C696C|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.C695C|TTC13_uc009xfk.1_Silent_p.C638C NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 749 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) AGATTAAGTTGCAGACAGCAT 0.289 7 13 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237664052 237664052 + Missense_Mutation SNP T A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:237664052T>A uc001hyl.1 + 21 2365 c.2245T>A c.(2245-2247)TTA>ATA p.L749I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 749 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) CCAACATCTGTTAAGAACTGA 0.393 99 105 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370373 240370373 + Missense_Mutation SNP T G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:240370373T>G uc010pyd.1 + 5 2486 c.2261T>G c.(2260-2262)GTG>GGG p.V754G FMN2_uc010pye.1_Missense_Mutation_p.V758G NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 754 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 ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGGCGGGGTGCTGACACTG 0.542 6 16 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004842 248004842 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:248004842G>T uc001idn.1 - 1 357 c.357C>A c.(355-357)GCC>GCA p.A119A NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AACGGTCATAGGCCATGAAGG 0.607 7 20 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11733151 11733151 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:11733151T>C uc002rbk.1 + 11 1895 c.1595T>C c.(1594-1596)ATG>ACG p.M532T GREB1_uc002rbo.1_Missense_Mutation_p.M166T NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 532 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTCTCCGAGATGTTCCGGCTG 0.662 10 12 --- --- --- --- PASS FAM49A 81553 broad.mit.edu 37 2 16736368 16736368 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:16736368C>G uc010exm.1 - 10 1025 c.877G>C c.(877-879)GAC>CAC p.D293H FAM49A_uc002rck.1_Missense_Mutation_p.D293H NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 293 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TCCACACTGTCTGGGGCCTGC 0.448 5 36 --- --- --- --- PASS GALNT14 79623 broad.mit.edu 37 2 31165143 31165143 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:31165143G>A uc002rnr.2 - 9 1474 c.855C>T c.(853-855)TTC>TTT p.F285F GALNT14_uc002rnq.2_Silent_p.F265F|GALNT14_uc002rns.2_Silent_p.F290F|GALNT14_uc010ymr.1_Silent_p.F250F|GALNT14_uc010ezo.1_Silent_p.F252F|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 285 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TGTCGATCACGAAGAGCCCTC 0.498 17 43 --- --- --- --- PASS PROKR1 10887 broad.mit.edu 37 2 68882479 68882479 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:68882479A>T uc010yqj.1 + 2 953 c.953A>T c.(952-954)AAG>ATG p.K318M PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 318 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 GTGAAGGAGAAGCACTACCTC 0.557 25 40 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79253251 79253251 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:79253251C>A uc002snw.2 + 2 117 c.32C>A c.(31-33)TCC>TAC p.S11Y REG3G_uc002snx.2_Missense_Mutation_p.S11Y|REG3G_uc010ffu.2_Missense_Mutation_p.S11Y NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 11 acute-phase response extracellular region sugar binding 0 CCCAGTGTGTCCTGGATGCTG 0.537 18 39 --- --- --- --- PASS C2orf51 200523 broad.mit.edu 37 2 88828671 88828671 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:88828671C>A uc002stb.1 + 4 364 c.222C>A c.(220-222)CCC>CCA p.P74P NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 74 nucleus skin(1) 1 TCAAAAGACCCCACATGACTG 0.557 36 54 --- --- --- --- PASS EDAR 10913 broad.mit.edu 37 2 109539886 109539886 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:109539886G>A uc002teq.3 - 5 811 c.380C>T c.(379-381)CCG>CTG p.P127L EDAR_uc010fjn.2_Missense_Mutation_p.P127L|EDAR_uc010yws.1_Missense_Mutation_p.P127L NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 127 TNFR-Cys 3.|Extracellular (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 GATGTTCCTCGGTCTGTTCTC 0.547 25 30 --- --- --- --- PASS ACTR3 10096 broad.mit.edu 37 2 114688952 114688952 + Silent SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:114688952A>T uc002tkx.1 + 5 731 c.411A>T c.(409-411)CCA>CCT p.P137P ACTR3_uc010yyc.1_Silent_p.P75P|ACTR3_uc010yyd.1_Silent_p.P86P NM_005721 NP_005712 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog 137 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding skin(1) 1 TCAATGTTCCAGGCTTGTACA 0.318 18 24 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119750717 119750717 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:119750717G>T uc002tln.1 + 16 1402 c.1270G>T c.(1270-1272)GTC>TTC p.V424F MARCO_uc010yyf.1_Missense_Mutation_p.V346F NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 424 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CTCAGTGTCCGTCAGGATTGT 0.517 12 138 --- --- --- --- PASS CLASP1 23332 broad.mit.edu 37 2 122227508 122227508 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:122227508C>T uc002tnc.2 - 9 1131 c.741G>A c.(739-741)GTG>GTA p.V247V CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.V247V|CLASP1_uc010yza.1_Silent_p.V247V|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Silent_p.V247V NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 247 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TGTTACCATCCACAGAATCTT 0.388 26 64 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125262047 125262047 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:125262047C>A uc002tno.2 + 8 1602 c.1238C>A c.(1237-1239)TCG>TAG p.S413* CNTNAP5_uc010flu.2_Nonsense_Mutation_p.S414* NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 413 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCTGAGGGCTCGGGAACCCTG 0.542 4 100 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141122335 141122335 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:141122335C>A uc002tvj.1 - 72 11998 c.11026G>T c.(11026-11028)GCT>TCT p.A3676S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3676 Extracellular (Potential).|LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 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) AACTCATCAGCTCTACATATA 0.393 TSP Lung(27;0.18) 24 30 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149838057 149838057 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:149838057C>T uc010zbu.1 + 14 1919 c.1551C>T c.(1549-1551)GAC>GAT p.D517D KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Silent_p.D69D NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 517 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) AGCTGACAGACGAGCTGGCCC 0.512 7 11 --- --- --- --- PASS ANKAR 150709 broad.mit.edu 37 2 190571740 190571740 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:190571740G>T uc002uqw.1 + 8 1774 c.1774G>T c.(1774-1776)GCT>TCT p.A592S ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 663 ANK 4. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TTCTATCGGTGCTAACTGGAG 0.313 8 33 --- --- --- --- PASS MSTN 2660 broad.mit.edu 37 2 190925015 190925015 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr2:190925015G>T uc002urp.2 - 2 653 c.520C>A c.(520-522)CTG>ATG p.L174M NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 174 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ATGAGTCTCAGGATTTGCACA 0.398 6 78 --- --- --- --- PASS RBM6 10180 broad.mit.edu 37 3 50012788 50012788 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:50012788G>A uc003cyc.2 + 5 1579 c.1446G>A c.(1444-1446)ATG>ATA p.M482I RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.M1I|RBM6_uc003cyd.2_5'UTR|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 482 RRM. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CTGATGGCATGCCTGTAAAGA 0.383 32 33 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89456489 89456489 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:89456489C>A uc003dqy.2 + 8 1890 c.1665C>A c.(1663-1665)CTC>CTA p.L555L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 555 Helical; (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATTATTCTCCTCACTGTTG 0.413 TSP Lung(6;0.00050) 14 16 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983832 97983832 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:97983832C>A uc003dsi.1 + 1 704 c.704C>A c.(703-705)ACA>AAA p.T235K NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 ATATCTTATACAATTATCCTC 0.328 5 35 --- --- --- --- PASS HSPBAP1 79663 broad.mit.edu 37 3 122512524 122512524 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:122512524C>G uc003efu.1 - 1 127 c.4G>C c.(4-6)GCA>CCA p.A2P DIRC2_uc003efw.3_5'Flank|DIRC2_uc010hrl.2_5'Flank|DIRC2_uc010hrm.2_5'Flank|HSPBAP1_uc003efv.1_Missense_Mutation_p.A2P NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 2 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) GAGCCTGCTGCCATGGCTACC 0.662 29 28 --- --- --- --- PASS RUVBL1 8607 broad.mit.edu 37 3 127820473 127820473 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:127820473C>A uc003ekh.2 - 5 636 c.532G>T c.(532-534)GAA>TAA p.E178* RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Nonsense_Mutation_p.E118*|RUVBL1_uc010hss.2_Nonsense_Mutation_p.E178* NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 178 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) TGCAAACTTTCAAAAATGCTG 0.418 7 292 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132400856 132400856 + Silent SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:132400856G>C uc003epe.1 - 27 3968 c.3891C>G c.(3889-3891)CTC>CTG p.L1297L NPHP3_uc003eoz.1_Silent_p.L176L|NPHP3_uc003epd.1_Silent_p.L539L NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1297 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 TTCCACCCAAGAGTGATGTTT 0.388 58 30 --- --- --- --- PASS NMD3 51068 broad.mit.edu 37 3 160952514 160952514 + Splice_Site SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:160952514G>T uc003feb.1 + 6 477 c.358_splice c.e6-1 p.V120_splice NMD3_uc003fec.2_Splice_Site_p.V120_splice|NMD3_uc003fed.1_Splice_Site_p.V120_splice|NMD3_uc010hwh.2_5'Flank NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TGTTTTATCAGGTGATGAATG 0.308 4 47 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184297281 184297281 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:184297281G>T uc003foz.2 + 10 2255 c.1818G>T c.(1816-1818)AAG>AAT p.K606N NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 606 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CTGGAATGAAGGTTTATATTG 0.567 7 313 --- --- --- --- PASS WHSC2 7469 broad.mit.edu 37 4 1993339 1993339 + Nonsense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:1993339G>T uc003gem.2 - 2 587 c.347C>A c.(346-348)TCG>TAG p.S116* WHSC2_uc003gel.2_Nonsense_Mutation_p.S30*|WHSC2_uc003gen.2_Intron NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 105 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) CAGGTTAAGCGAGCCTGTGTC 0.532 4 45 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3424106 3424106 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:3424106G>A uc003ggw.2 + 11 3746 c.2842G>A c.(2842-2844)GAG>AAG p.E948K RGS12_uc003ggv.2_Missense_Mutation_p.E948K|RGS12_uc003ggy.1_Missense_Mutation_p.E346K|RGS12_uc003ggz.2_Missense_Mutation_p.E300K|RGS12_uc010icu.1_Missense_Mutation_p.E147K|RGS12_uc011bvs.1_Missense_Mutation_p.E290K|RGS12_uc003gha.2_Missense_Mutation_p.E290K|RGS12_uc010icv.2_Missense_Mutation_p.E147K|RGS12_uc003ghb.2_Missense_Mutation_p.E147K NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 948 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCCCCAGTCGGAGGCCTGCAG 0.667 6 4 --- --- --- --- PASS LGI2 55203 broad.mit.edu 37 4 25028544 25028544 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:25028544G>A uc003grf.2 - 3 386 c.287C>T c.(286-288)TCA>TTA p.S96L NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 96 LRR 1. extracellular region 0 Breast(46;0.173) GATCGTGAATGAGTTAGAATT 0.383 34 18 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73012827 73012827 + Missense_Mutation SNP A C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:73012827A>C uc003hgg.2 + 4 965 c.867A>C c.(865-867)GAA>GAC p.E289D NPFFR2_uc010iig.1_Missense_Mutation_p.E71D|NPFFR2_uc003hgi.2_Missense_Mutation_p.E190D|NPFFR2_uc003hgh.2_Missense_Mutation_p.E187D|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 289 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGCAAGAAGAAAAATATTACC 0.433 25 68 --- --- --- --- PASS THAP6 152815 broad.mit.edu 37 4 76447060 76447060 + Nonsense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:76447060C>T uc003him.2 + 4 500 c.403C>T c.(403-405)CAG>TAG p.Q135* THAP6_uc010iis.1_Nonsense_Mutation_p.Q94*|THAP6_uc003hin.2_Intron|THAP6_uc011cbm.1_Nonsense_Mutation_p.Q135*|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.2_Nonsense_Mutation_p.Q135* NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN THAP domain containing 6 135 microtubule cytoskeleton DNA binding|metal ion binding 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATTCCAATCCCAGTTCATTTT 0.348 32 15 --- --- --- --- PASS DMP1 1758 broad.mit.edu 37 4 88583873 88583873 + Missense_Mutation SNP G A A rs149603030 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:88583873G>A uc003hqv.2 + 6 1047 c.943G>A c.(943-945)GGT>AGT p.G315S DMP1_uc003hqw.2_Missense_Mutation_p.G299S NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 315 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGACAGCAAGGGTGACTCTCA 0.512 13 36 --- --- --- --- PASS NFKB1 4790 broad.mit.edu 37 4 103498032 103498032 + Splice_Site SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:103498032G>T uc011ceq.1 + 7 872 c.405_splice c.e7-1 p.G135_splice NFKB1_uc011cep.1_Splice_Site_p.G136_splice|NFKB1_uc011cer.1_5'Flank NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TTTTTCTCCAGCTTCGCAAAC 0.383 39 18 --- --- --- --- PASS NEIL3 55247 broad.mit.edu 37 4 178243682 178243682 + Missense_Mutation SNP G T T rs34112288 byFrequency TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:178243682G>T uc003iut.2 + 2 343 c.226G>T c.(226-228)GTG>TTG p.V76L NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 76 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TTACAGTGGCGTGGAAACTTT 0.393 BER_DNA_glycosylases 12 62 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13737392 13737392 + Silent SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:13737392T>C uc003jfd.2 - 66 11466 c.11424A>G c.(11422-11424)CAA>CAG p.Q3808Q DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3808 Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTGAGTTAATTTGAACTTCTG 0.413 Kartagener_syndrome 17 70 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33662055 33662055 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:33662055G>C uc003jia.1 - 6 1169 c.1006C>G c.(1006-1008)CCT>GCT p.P336A ADAMTS12_uc010iuq.1_Missense_Mutation_p.P336A NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 336 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGATGAACAGGATTGAGGTCA 0.493 HNSCC(64;0.19) 14 72 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36049132 36049132 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:36049132C>A uc003jjz.1 - 4 795 c.702G>T c.(700-702)AGG>AGT p.R234S UGT3A2_uc011cos.1_Missense_Mutation_p.R200S|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 234 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAAAACTGGCCTAGAGCCTT 0.418 101 34 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37169396 37169396 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:37169396C>A uc011cpa.1 - 34 6961 c.6730G>T c.(6730-6732)GGA>TGA p.G2244* C5orf42_uc011coy.1_Nonsense_Mutation_p.G744*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.G1319*|C5orf42_uc003jkr.1_Nonsense_Mutation_p.G277* NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2244 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GGAATACTTCCTGTATGTAAG 0.448 6 139 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109181611 109181611 + Missense_Mutation SNP G T T rs142363192 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:109181611G>T uc003kou.1 + 18 3709 c.2746G>T c.(2746-2748)GTC>TTC p.V916F NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 916 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TCAAGCAAATGTCTATCCCAT 0.378 37 21 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121188071 121188071 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:121188071G>C uc003kss.2 + 1 422 c.413G>C c.(412-414)GGC>GCC p.G138A NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 138 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CAGCGAGGAGGCCGGATCCGC 0.582 25 5 --- --- --- --- PASS SEPT8 23176 broad.mit.edu 37 5 132099577 132099577 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:132099577G>A uc003kxr.2 - 4 593 c.355C>T c.(355-357)CCC>TCC p.P119S SEPT8_uc003kxs.1_Missense_Mutation_p.P119S|SEPT8_uc003kxu.2_Missense_Mutation_p.P119S|SEPT8_uc011cxi.1_Missense_Mutation_p.P117S|SEPT8_uc003kxv.2_Missense_Mutation_p.P117S|SEPT8_uc003kxt.2_Missense_Mutation_p.P59S NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 119 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAACTATGGGCCTGTAACTA 0.587 OREG0003468 type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 70 --- --- --- --- PASS HAVCR1 26762 broad.mit.edu 37 5 156482444 156482444 + Missense_Mutation SNP T G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:156482444T>G uc010jij.1 - 3 332 c.147A>C c.(145-147)AGA>AGC p.R49S HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.R49S|HAVCR1_uc011ddm.1_Missense_Mutation_p.R49S NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 49 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AACATGAGCCTCTATTCCAGC 0.502 11 9 --- --- --- --- PASS KCNMB1 3779 broad.mit.edu 37 5 169810700 169810700 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr5:169810700G>T uc003maq.1 - 3 689 c.289C>A c.(289-291)CGG>AGG p.R97R KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Silent_p.R97R NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 97 Extracellular (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TTCTGGTCCCGAGTGTCCTCC 0.582 3 30 --- --- --- --- PASS OR12D3 81797 broad.mit.edu 37 6 29342547 29342547 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:29342547T>C uc003nme.2 - 1 522 c.518A>G c.(517-519)AAT>AGT p.N173S NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 GAAGAAGTGATTGAGTTTCTG 0.463 19 36 --- --- --- --- PASS BRD2 6046 broad.mit.edu 37 6 32947734 32947734 + Silent SNP A G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:32947734A>G uc003ocn.3 + 11 3672 c.1971A>G c.(1969-1971)TTA>TTG p.L657L BRD2_uc003ocq.3_Silent_p.L657L|BRD2_uc003ocp.3_Silent_p.L537L|BRD2_uc010juh.2_Silent_p.L692L NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 657 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TCAACAAATTACCTGGGGAGA 0.502 13 19 --- --- --- --- PASS UNC5CL 222643 broad.mit.edu 37 6 41002666 41002666 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:41002666C>A uc003opi.2 - 2 237 c.148G>T c.(148-150)GAG>TAG p.E50* UNC5CL_uc010jxe.1_Nonsense_Mutation_p.E50* NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 50 Cytoplasmic (Potential). signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) ACTGGTTCCTCTTGACCATTC 0.597 4 42 --- --- --- --- PASS RMND1 55005 broad.mit.edu 37 6 151766462 151766462 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:151766462G>T uc003qoi.2 - 2 665 c.485C>A c.(484-486)CCA>CAA p.P162Q RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.P162Q|RMND1_uc011eer.1_Missense_Mutation_p.P162Q NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 162 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) AGACAGAACTGGAAGGTTGGT 0.502 4 35 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155578117 155578117 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:155578117C>A uc003qqb.2 + 29 6241 c.4968C>A c.(4966-4968)CAC>CAA p.H1656Q TIAM2_uc003qqe.2_Missense_Mutation_p.H1656Q|TIAM2_uc010kjj.2_Missense_Mutation_p.H1218Q|TIAM2_uc003qqf.2_Missense_Mutation_p.H1032Q|TIAM2_uc011efl.1_Missense_Mutation_p.H1000Q|TIAM2_uc003qqg.2_Missense_Mutation_p.H968Q|TIAM2_uc003qqh.2_Missense_Mutation_p.H581Q|uc003qqi.1_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1656 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGATCCGTCACCAGTCCCTTG 0.507 15 19 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155750148 155750148 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:155750148G>A uc003qqm.2 - 9 1028 c.925C>T c.(925-927)CAC>TAC p.H309Y NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 309 Extracellular (Potential).|FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TTTTTCATGTGAAGTTCCAGG 0.493 5 115 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158900915 158900915 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr6:158900915A>T uc003qrf.2 + 7 2516 c.1159A>T c.(1159-1161)AGC>TGC p.S387C TULP4_uc011efo.1_Missense_Mutation_p.S387C|TULP4_uc003qrg.2_Missense_Mutation_p.S387C NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 387 SOCS box. intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GGCCATCGCCAGCACCTTGCG 0.627 19 18 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53104165 53104165 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:53104165C>T uc003tpz.2 + 1 817 c.801C>T c.(799-801)TTC>TTT p.F267F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 267 0 TCTGGGACTTCTGGGAGGCGA 0.642 18 219 --- --- --- --- PASS MRPS17 51373 broad.mit.edu 37 7 56020981 56020981 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:56020981C>A uc003trd.2 + 2 123 c.93C>A c.(91-93)ACC>ACA p.T31T MRPS17_uc003trb.2_Silent_p.T126T NM_015969 NP_057053 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 precursor 31 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGAGAGTGACCAGGCTTGTTC 0.458 7 447 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80439994 80439994 + Silent SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:80439994G>C uc003uhj.2 - 6 1033 c.471C>G c.(469-471)TCC>TCG p.S157S SEMA3C_uc011kgw.1_Silent_p.S175S|SEMA3C_uc011kgx.1_Silent_p.S9S NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 157 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 ATTCACACTTGGAGTCAATCA 0.358 26 41 --- --- --- --- PASS UFSP1 402682 broad.mit.edu 37 7 100486765 100486765 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:100486765A>T uc003uxc.3 - 1 575 c.128T>A c.(127-129)CTG>CAG p.L43Q uc010lhm.1_5'Flank NM_001015072 NP_001015072 Q6NVU6 UFSP1_HUMAN inactive Ufm1-specific protease 1 43 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCCCCGTGCAGCCCCACTCC 0.701 12 26 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113558921 113558921 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:113558921C>A uc010ljy.1 - 1 162 c.131G>T c.(130-132)CGA>CTA p.R44L NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 44 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ATCAGAACCTCGTCTACTTGG 0.378 4 96 --- --- --- --- PASS GCC1 79571 broad.mit.edu 37 7 127222187 127222187 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:127222187G>A uc003vma.2 - 2 2627 c.2209C>T c.(2209-2211)CTG>TTG p.L737L NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 737 Potential.|GRIP. Golgi membrane|plasma membrane protein binding ovary(2) 2 TGGCGGCCCAGGGAGTCAGGT 0.532 18 68 --- --- --- --- PASS MKRN1 23608 broad.mit.edu 37 7 140156495 140156495 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:140156495G>A uc003vvt.2 - 5 1168 c.943C>T c.(943-945)CGC>TGC p.R315C MKRN1_uc003vvs.2_Missense_Mutation_p.R251C|MKRN1_uc011krd.1_Missense_Mutation_p.R49C|MKRN1_uc003vvv.3_Missense_Mutation_p.R315C|MKRN1_uc003vvu.3_Missense_Mutation_p.R251C NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 315 RING-type. ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CTCCACTTGCGAATGCACTTG 0.488 13 40 --- --- --- --- PASS USP17L2 377630 broad.mit.edu 37 8 11995031 11995031 + Silent SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:11995031G>C uc003wvc.1 - 1 1239 c.1239C>G c.(1237-1239)CCC>CCG p.P413P FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 413 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 CCTGGAGGCAGGGGTGGTCTC 0.567 39 68 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55539267 55539267 + Missense_Mutation SNP C T T rs112323560 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:55539267C>T uc003xsd.1 + 4 2973 c.2825C>T c.(2824-2826)ACG>ATG p.T942M RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 942 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGAAATGAAACGAGTGTGGTA 0.303 12 34 --- --- --- --- PASS HNF4G 3174 broad.mit.edu 37 8 76470903 76470903 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:76470903C>A uc003yaq.2 + 8 1013 c.743C>A c.(742-744)CCA>CAA p.P248Q HNF4G_uc003yar.2_Missense_Mutation_p.P285Q NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 248 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTTTTTGATCCAGGTTGGTTT 0.303 5 145 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87060971 87060971 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:87060971G>T uc011lfy.1 - 3 878 c.878C>A c.(877-879)GCG>GAG p.A293E NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 293 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) AAAGTCCTTCGCCAAGTGGGA 0.413 9 30 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98943719 98943719 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:98943719G>A uc003yic.2 + 3 912 c.681G>A c.(679-681)ACG>ACA p.T227T MATN2_uc003yib.1_Silent_p.T227T|MATN2_uc010mbh.1_Silent_p.T227T|MATN2_uc003yid.2_Silent_p.T227T|MATN2_uc003yie.1_Silent_p.T227T|MATN2_uc010mbi.1_Silent_p.T101T NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 227 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AGATTGAGACGCTGACCTCCG 0.443 17 45 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98943720 98943720 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:98943720C>A uc003yic.2 + 3 913 c.682C>A c.(682-684)CTG>ATG p.L228M MATN2_uc003yib.1_Missense_Mutation_p.L228M|MATN2_uc010mbh.1_Missense_Mutation_p.L228M|MATN2_uc003yid.2_Missense_Mutation_p.L228M|MATN2_uc003yie.1_Missense_Mutation_p.L228M|MATN2_uc010mbi.1_Missense_Mutation_p.L102M NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 228 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GATTGAGACGCTGACCTCCGT 0.443 17 45 --- --- --- --- PASS KCNS2 3788 broad.mit.edu 37 8 99441494 99441494 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:99441494C>A uc003yin.2 + 2 1637 c.1287C>A c.(1285-1287)AGC>AGA p.S429R NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 429 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCATGCGCAGCTGTGACTTTG 0.488 15 124 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100789166 100789166 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:100789166C>A uc003yiv.2 + 41 7597 c.7486C>A c.(7486-7488)CTT>ATT p.L2496I VPS13B_uc003yiw.2_Missense_Mutation_p.L2471I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2496 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGTCATCACCTTGACCAACT 0.408 5 97 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103309124 103309124 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:103309124C>A uc003ykr.1 - 28 3695 c.3662G>T c.(3661-3663)TGC>TTC p.C1221F UBR5_uc003yks.1_Missense_Mutation_p.C1221F NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1221 UBR-type. 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 lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 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) TACTCACTTGCAATCATGACC 0.328 10 15 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110478882 110478882 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:110478882G>A uc003yne.2 + 50 8593 c.8489G>A c.(8488-8490)AGC>AAC p.S2830N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2830 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCTGAGTGGAGCATTGGGTTC 0.468 HNSCC(38;0.096) 4 12 --- --- --- --- PASS KLHL38 340359 broad.mit.edu 37 8 124663821 124663821 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:124663821A>T uc003yqs.1 - 1 1370 c.1346T>A c.(1345-1347)ATC>AAC p.I449N NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 449 Kelch 4. 0 ATTTACCTGGATAAGGCGCAC 0.507 21 102 --- --- --- --- PASS SLURP1 57152 broad.mit.edu 37 8 143823221 143823221 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:143823221C>A uc003ywy.2 - 2 204 c.178G>T c.(178-180)GAG>TAG p.E60* NM_020427 NP_065160 P55000 SLUR1_HUMAN ARS component B precursor 60 UPAR/Ly6. cell activation|cell adhesion extracellular space cytokine activity 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGGCCTCACCTGCCTCCACC 0.662 6 22 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144886281 144886281 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr8:144886281C>T uc003yzp.1 - 22 3062 c.3055G>A c.(3055-3057)GTC>ATC p.V1019I SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.V1019I NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1019 Interaction with ARHGEF7.|PDZ 3. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GAGCCTCCGACAATACTAAGC 0.617 9 7 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5988539 5988539 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:5988539C>A uc003zjq.3 - 2 816 c.600G>T c.(598-600)TTG>TTT p.L200F NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 200 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TCTTTTCTCTCAAGTGCCTTG 0.428 4 37 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G A A rs121913388 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 1 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34493264 34493264 + Missense_Mutation SNP A G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:34493264A>G uc003zum.2 + 9 947 c.754A>G c.(754-756)ACC>GCC p.T252A NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 252 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GAAGGCAAAGACCCCAGTGGC 0.463 Kartagener_syndrome 5 79 --- --- --- --- PASS OR13C4 138804 broad.mit.edu 37 9 107289409 107289409 + Missense_Mutation SNP A C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:107289409A>C uc011lvn.1 - 1 82 c.82T>G c.(82-84)TTT>GTT p.F28V NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATCAGAGCAAAGAAAATGATC 0.413 33 57 --- --- --- --- PASS C5 727 broad.mit.edu 37 9 123780009 123780009 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:123780009T>C uc004bkv.2 - 13 1658 c.1628A>G c.(1627-1629)TAT>TGT p.Y543C C5_uc010mvm.1_Missense_Mutation_p.Y543C|C5_uc010mvn.1_Missense_Mutation_p.Y543C NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 543 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GACGATGTAATAGACCAGAAG 0.408 25 59 --- --- --- --- PASS FUT7 2529 broad.mit.edu 37 9 139925444 139925444 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:139925444G>T uc004ckq.2 - 2 1596 c.747C>A c.(745-747)GGC>GGA p.G249G ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN fucosyltransferase 7 249 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CTGGCACAGTGCCAGCCACCA 0.622 41 63 --- --- --- --- PASS AKR1E2 83592 broad.mit.edu 37 10 4884670 4884670 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:4884670C>A uc001ihi.2 + 8 926 c.811C>A c.(811-813)CCA>ACA p.P271T AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.P175T|AKR1E2_uc001ihh.1_Missense_Mutation_p.P214T|AKR1E2_uc009xhw.2_Missense_Mutation_p.P173T|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.P214T NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 271 NADP (By similarity). cytoplasm 1,5-anhydro-D-fructose reductase activity 0 ATCTATCACCCCAAGTCACAT 0.333 33 71 --- --- --- --- PASS MRC1 4360 broad.mit.edu 37 10 17949583 17949583 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:17949583C>A uc001ipk.2 + 28 4050 c.3947C>A c.(3946-3948)TCC>TAC p.S1316Y NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1316 Extracellular (Potential).|C-type lectin 8. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 AGTCCGGTCTCCTTTGTCAAC 0.403 9 48 --- --- --- --- PASS ERCC6 2074 broad.mit.edu 37 10 50691393 50691393 + Missense_Mutation SNP T A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:50691393T>A uc001jhs.3 - 9 2145 c.1991A>T c.(1990-1992)CAG>CTG p.Q664L ERCC6_uc010qgr.1_Missense_Mutation_p.Q34L|ERCC6_uc001jhr.3_Missense_Mutation_p.Q64L NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 664 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AGGTCATACCTGTTTGCAAGC 0.378 Direct_reversal_of_damage|NER 26 11 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108536394 108536394 + Silent SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:108536394T>C uc001kym.2 - 4 791 c.783A>G c.(781-783)GAA>GAG p.E261E SORCS1_uc001kyl.2_Silent_p.E261E|SORCS1_uc009xxs.2_Silent_p.E261E|SORCS1_uc001kyn.1_Silent_p.E261E|SORCS1_uc001kyo.2_Silent_p.E261E NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 261 Lumenal (Potential).|BNR 2. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGTTGCCCCTTCATCTGAGC 0.403 26 18 --- --- --- --- PASS C10orf84 63877 broad.mit.edu 37 10 120095118 120095118 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:120095118C>T uc001ldo.2 - 4 537 c.270G>A c.(268-270)CAG>CAA p.Q90Q C10orf84_uc010qss.1_Silent_p.Q90Q NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 90 0 Colorectal(252;0.101) all cancers(201;0.0244) TTGTGCTTTTCTGTTCAGAAT 0.313 13 6 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127429673 127429673 + Silent SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:127429673T>C uc001liq.1 + 17 2567 c.2274T>C c.(2272-2274)AAT>AAC p.N758N C10orf137_uc001lin.2_Silent_p.N724N|C10orf137_uc001lio.1_Silent_p.N724N|C10orf137_uc001lip.1_Silent_p.N462N|C10orf137_uc001lir.2_Silent_p.N252N|C10orf137_uc001lis.1_Silent_p.N84N NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 758 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGGCCCAGAATGCAAATAATA 0.438 42 24 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134898363 134898363 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr10:134898363C>A uc001llw.2 + 8 1425 c.1425C>A c.(1423-1425)CTC>CTA p.L475L Q86SQ6 GP123_HUMAN RecName: Full=Probable G-protein coupled receptor 123; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGCTGAGCCTCCCTGAGGAGG 0.647 4 27 --- --- --- --- PASS LRRC56 115399 broad.mit.edu 37 11 551689 551689 + Nonsense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:551689G>T uc010qvz.1 + 10 1340 c.835G>T c.(835-837)GAG>TAG p.E279* NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 279 skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACTTGACCCCGAGCTGTCCCT 0.687 3 16 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 686886 686886 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:686886G>A uc001lqq.1 - 5 1469 c.776C>T c.(775-777)GCG>GTG p.A259V DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 259 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GGGTCGGCCCGCGTAGCGAAT 0.607 9 13 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1093575 1093575 + Silent SNP G C C rs114864285 by1000genomes TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:1093575G>C uc001lsx.1 + 31 12507 c.12480G>C c.(12478-12480)ACG>ACC p.T4160T NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4160 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 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) ccacaactacGGTGACCGCAA 0.308 3 14 --- --- --- --- PASS CCKBR 887 broad.mit.edu 37 11 6291936 6291936 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:6291936C>T uc001mcp.2 + 4 907 c.714C>T c.(712-714)TAC>TAT p.Y238Y CCKBR_uc001mcq.2_Silent_p.Y166Y|CCKBR_uc001mcr.2_Silent_p.Y238Y|CCKBR_uc001mcs.2_Silent_p.Y238Y|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 238 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CCGTGGCCTACGGGCTTATCT 0.582 9 31 --- --- --- --- PASS OR2AG1 144125 broad.mit.edu 37 11 6806970 6806970 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:6806970G>A uc001mer.1 + 1 702 c.702G>A c.(700-702)AGG>AGA p.R234R NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGAGGGGAGGAAGAAAGCCC 0.498 27 19 --- --- --- --- PASS NRIP3 56675 broad.mit.edu 37 11 9005648 9005648 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:9005648G>C uc001mhg.2 - 5 700 c.586C>G c.(586-588)CTT>GTT p.L196V NRIP3_uc010rbu.1_3'UTR NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 196 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) TGTAGACCAAGGGACAAGTTT 0.388 58 43 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17428178 17428178 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:17428178G>T uc001mnc.2 - 26 3446 c.3320C>A c.(3319-3321)GCC>GAC p.A1107D NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1107 Cytoplasmic (By similarity).|ABC transmembrane type-1 2. 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 ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTCATGGGGGCTAGGATGAT 0.413 9 4 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20005751 20005751 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:20005751C>T uc010rdm.1 + 12 3156 c.2795C>T c.(2794-2796)ACC>ATC p.T932I NAV2_uc001mpp.2_Missense_Mutation_p.T845I|NAV2_uc001mpr.3_Missense_Mutation_p.T909I NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 932 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GTACGGGAGACCCTGCAACGA 0.572 27 14 --- --- --- --- PASS SLC5A12 159963 broad.mit.edu 37 11 26725099 26725099 + Missense_Mutation SNP T A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:26725099T>A uc001mra.2 - 6 1113 c.800A>T c.(799-801)AAA>ATA p.K267I SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.K267I NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 267 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 CTTTTCTGTTTTGCAAGAGAT 0.358 38 22 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258265 56258265 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:56258265C>A uc001nix.1 - 1 582 c.582G>T c.(580-582)AAG>AAT p.K194N NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TTGACAACTCCTTGTTGTAGG 0.418 20 82 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468292 56468292 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:56468292G>T uc010rjn.1 + 1 429 c.429G>T c.(427-429)CTG>CTT p.L143L NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGCATTGCTGGTAGCAGTCT 0.468 6 162 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468738 56468738 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:56468738G>A uc010rjn.1 + 1 875 c.875G>A c.(874-876)AGG>AAG p.R292K NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 292 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACAGCCTAAGGAATAAGGAT 0.393 9 89 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59622223 59622223 + Missense_Mutation SNP T A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:59622223T>A uc001noj.2 - 7 1121 c.1023A>T c.(1021-1023)AGA>AGT p.R341S NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 341 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTCATTGATTCTCACAGAGT 0.408 13 54 --- --- --- --- PASS GANAB 23193 broad.mit.edu 37 11 62397403 62397403 + Nonsense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:62397403C>T uc001nub.2 - 14 1653 c.1620G>A c.(1618-1620)TGG>TGA p.W540* GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Nonsense_Mutation_p.W562*|GANAB_uc001nuc.2_Nonsense_Mutation_p.W443*|GANAB_uc010rma.1_Nonsense_Mutation_p.W448*|GANAB_uc010rmb.1_Nonsense_Mutation_p.W426* NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 540 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 TCATGTCATTCCAGACAAAGA 0.532 20 64 --- --- --- --- PASS RAB30 27314 broad.mit.edu 37 11 82708291 82708291 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:82708291G>A uc001ozu.2 - 3 329 c.68C>T c.(67-69)ACG>ATG p.T23M RAB30_uc009yve.2_Missense_Mutation_p.T21M|RAB30_uc010rst.1_Missense_Mutation_p.T21M|RAB30_uc001ozv.2_Missense_Mutation_p.T21M|RAB30_uc009yvg.1_Missense_Mutation_p.T21M NM_014488 NP_055303 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 23 GTP (By similarity). protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity 0 GACGAGGCACGTCTTCCCCAC 0.408 8 44 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85447586 85447586 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:85447586A>T uc010rth.1 - 5 817 c.541T>A c.(541-543)TCA>ACA p.S181T SYTL2_uc010rtg.1_Missense_Mutation_p.S182T|SYTL2_uc010rti.1_Missense_Mutation_p.S181T|SYTL2_uc010rtj.1_Missense_Mutation_p.S133T|SYTL2_uc001pbf.3_Missense_Mutation_p.S181T|SYTL2_uc010rtf.1_Missense_Mutation_p.S39T NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 181 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCATTTTTTGACTGTTCATTT 0.323 6 22 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116729359 116729359 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:116729359T>C uc001ppy.2 - 20 2540 c.2504A>G c.(2503-2505)CAT>CGT p.H835R SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.H138R NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 835 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CGAAAACAGATGGGGGTGTAA 0.547 52 59 --- --- --- --- PASS TNFRSF1A 7132 broad.mit.edu 37 12 6440025 6440025 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:6440025C>T uc001qnu.2 - 6 900 c.619G>A c.(619-621)GAC>AAC p.D207N TNFRSF1A_uc001qnt.2_Missense_Mutation_p.D99N|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.D99N|TNFRSF1A_uc009zek.2_Missense_Mutation_p.D164N NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 207 Extracellular (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 TCACCTGAGTCCTCAGTGCCC 0.453 12 57 --- --- --- --- PASS TNFRSF1A 7132 broad.mit.edu 37 12 6440077 6440077 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:6440077C>A uc001qnu.2 - 6 848 c.567G>T c.(565-567)CTG>CTT p.L189L TNFRSF1A_uc001qnt.2_Silent_p.L81L|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.L81L|TNFRSF1A_uc009zek.2_Silent_p.L146L NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 189 TNFR-Cys 4.|Extracellular (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 TCGTGCACTCCAGGCTTTTCT 0.512 4 45 --- --- --- --- PASS KIAA1467 57613 broad.mit.edu 37 12 13208823 13208823 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:13208823C>G uc001rbi.2 + 2 399 c.376C>G c.(376-378)CCC>GCC p.P126A KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 126 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TTTCCTGATCCCCTGTCCTCC 0.577 13 33 --- --- --- --- PASS RASSF8 11228 broad.mit.edu 37 12 26220541 26220541 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:26220541C>T uc001rgx.2 + 4 1254 c.1033C>T c.(1033-1035)CGG>TGG p.R345W RASSF8_uc001rgy.2_Missense_Mutation_p.R345W|RASSF8_uc001rgz.2_Missense_Mutation_p.R345W|RASSF8_uc009zjd.1_Missense_Mutation_p.R345W|RASSF8_uc009zje.1_Missense_Mutation_p.R345W NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 345 signal transduction 0 Colorectal(261;0.0847) TAAGGAGTTGCGGCAAGTCAA 0.438 16 24 --- --- --- --- PASS KRT18 3875 broad.mit.edu 37 12 53345369 53345369 + Silent SNP C T T rs145578755 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:53345369C>T uc001sbe.2 + 5 831 c.762C>T c.(760-762)GCC>GCT p.A254A KRT18_uc009zmn.1_Silent_p.A254A|KRT18_uc001sbf.1_Silent_p.A81A|KRT18_uc001sbg.2_Silent_p.A254A|KRT18_uc009zmo.2_Silent_p.A254A|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 254 Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 ACATCCGGGCCCAATATGACG 0.587 10 22 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54115366 54115366 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:54115366C>T uc001sef.2 - 6 787 c.643G>A c.(643-645)GAG>AAG p.E215K CALCOCO1_uc010som.1_Missense_Mutation_p.E182K|CALCOCO1_uc010son.1_Missense_Mutation_p.E92K|CALCOCO1_uc001seh.2_Missense_Mutation_p.E215K|CALCOCO1_uc009znd.2_Missense_Mutation_p.E215K|CALCOCO1_uc001seg.2_Missense_Mutation_p.E92K|CALCOCO1_uc010soo.1_Missense_Mutation_p.E208K NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 215 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 ATGTCCCTCTCTTCTGTGATC 0.532 6 292 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56717636 56717636 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:56717636C>T uc001skx.2 - 14 2512 c.2139G>A c.(2137-2139)CAG>CAA p.Q713Q PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.Q712Q|PAN2_uc001sky.2_Silent_p.Q709Q NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 713 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CCTGTGTATTCTGGTCCAGGC 0.512 6 37 --- --- --- --- PASS GAS2L3 283431 broad.mit.edu 37 12 101005798 101005798 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:101005798G>A uc001thu.2 + 6 550 c.324G>A c.(322-324)GTG>GTA p.V108V GAS2L3_uc009zty.2_Silent_p.V108V|GAS2L3_uc001thv.2_Silent_p.V4V NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 108 CH. cell cycle arrest skin(1) 1 TGAGAAAAGTGCCCTGTAAGA 0.353 31 20 --- --- --- --- PASS PEBP1 5037 broad.mit.edu 37 12 118575878 118575878 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:118575878G>T uc001twu.1 + 2 315 c.170G>T c.(169-171)GGT>GTT p.G57V PEBP1_uc010szc.1_Missense_Mutation_p.G57V NM_002567 NP_002558 P30086 PEBP1_HUMAN prostatic binding protein 57 ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCGTGGGATGGTCTTGATTCA 0.438 Direct_reversal_of_damage 3 21 --- --- --- --- PASS TAOK3 51347 broad.mit.edu 37 12 118693369 118693369 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr12:118693369G>C uc001twx.2 - 3 299 c.4C>G c.(4-6)CGT>GGT p.R2G TAOK3_uc001twy.3_Missense_Mutation_p.R2G NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 2 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCCCTTTACGCATGATGGCC 0.398 39 102 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30104821 30104821 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr13:30104821C>A uc001uso.2 - 5 945 c.558G>T c.(556-558)TCG>TCT p.S186S NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 186 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGACCATGGCCGACTCTTTCA 0.433 47 18 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 76055559 76055559 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr13:76055559C>T uc001vjl.1 - 1 692 c.345G>A c.(343-345)GCG>GCA p.A115A TBC1D4_uc010aer.2_Silent_p.A115A|TBC1D4_uc010aes.2_Silent_p.A115A NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 115 PID 1. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGATGAATACCGCCGGGTTGG 0.662 31 7 --- --- --- --- PASS RBM26 64062 broad.mit.edu 37 13 79946001 79946001 + Nonsense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr13:79946001G>C uc001vkz.2 - 4 406 c.392C>G c.(391-393)TCA>TGA p.S131* RBM26_uc001vky.2_Nonsense_Mutation_p.S131*|RBM26_uc001vla.2_Nonsense_Mutation_p.S131*|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_5'Flank NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 131 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TCGGGAGCTTGACTGGGGAGG 0.368 9 28 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 26917694 26917694 + Nonsense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:26917694A>T uc001wpy.2 - 5 1313 c.995T>A c.(994-996)TTA>TAA p.L332* NOVA1_uc001wpz.2_Nonsense_Mutation_p.L308*|NOVA1_uc001wqa.2_Nonsense_Mutation_p.L210* NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 335 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) ACCTAAACCTAAAGTGTTGAG 0.299 17 16 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44974483 44974483 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:44974483C>A uc001wvn.2 - 1 2017 c.1708G>T c.(1708-1710)GAA>TAA p.E570* NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 570 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGGGCCTCTTCTATAGAAACT 0.517 17 37 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975345 44975345 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:44975345C>G uc001wvn.2 - 1 1155 c.846G>C c.(844-846)GAG>GAC p.E282D NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 282 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAGGTCTGGGCTCCGCTTTAG 0.473 19 29 --- --- --- --- PASS EXOC5 10640 broad.mit.edu 37 14 57700535 57700535 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:57700535C>T uc001xct.2 - 9 1032 c.781G>A c.(781-783)GTT>ATT p.V261I EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Missense_Mutation_p.V206I|EXOC5_uc010trh.1_Missense_Mutation_p.V196I NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 261 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 ATATCTCCAACTTGTTTGTTC 0.308 12 37 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58813807 58813807 + Missense_Mutation SNP T G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:58813807T>G uc001xdp.2 + 14 1398 c.1144T>G c.(1144-1146)TCC>GCC p.S382A ARID4A_uc001xdo.2_Missense_Mutation_p.S382A|ARID4A_uc001xdq.2_Missense_Mutation_p.S382A|ARID4A_uc010apg.1_Missense_Mutation_p.S60A NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 382 ARID. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TTCAGCTGCTTCCTACAATGT 0.279 9 17 --- --- --- --- PASS JDP2 122953 broad.mit.edu 37 14 75904629 75904629 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:75904629G>A uc010asj.2 + 2 73 c.6G>A c.(4-6)ATG>ATA p.M2I JDP2_uc010tvb.1_Missense_Mutation_p.M2I|JDP2_uc010tvc.1_Missense_Mutation_p.M2I|JDP2_uc001xrq.2_Missense_Mutation_p.M13I NM_001135047 NP_001128519 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 isoform a 2 nucleus sequence-specific DNA binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0296) CTGCTATGATGCCTGGGCAGA 0.667 8 6 --- --- --- --- PASS TMED8 283578 broad.mit.edu 37 14 77810117 77810117 + Missense_Mutation SNP T A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:77810117T>A uc001xto.1 - 4 377 c.377A>T c.(376-378)CAG>CTG p.Q126L TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_5'Flank NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 126 transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ATGTTCAGACTGGATCATAAC 0.448 41 79 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088266 94088266 + Nonsense_Mutation SNP G T T rs78490074 byFrequency TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr14:94088266G>T uc001ybv.1 + 28 4305 c.4222G>T c.(4222-4224)GAG>TAG p.E1408* KIAA1409_uc001ybs.1_Nonsense_Mutation_p.E1386* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1563 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGAAATCCCCGAGAACCCAGC 0.512 4 98 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31354881 31354881 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:31354881C>G uc001zfm.2 - 8 1052 c.924G>C c.(922-924)GAG>GAC p.E308D TRPM1_uc010azy.2_Missense_Mutation_p.E215D|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 308 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTAGAAGCTGCTCCCTGAGGG 0.343 8 23 --- --- --- --- PASS DUOXA2 405753 broad.mit.edu 37 15 45408422 45408422 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:45408422C>A uc001zuo.2 + 3 586 c.306C>A c.(304-306)CTC>CTA p.L102L DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN dual oxidase activator 2 102 Extracellular (Potential). protein transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) TCCGTCTGCTCGTGGGCCTGG 0.567 5 155 --- --- --- --- PASS MYO5C 55930 broad.mit.edu 37 15 52561963 52561963 + Silent SNP G T T rs142061334 by1000genomes TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:52561963G>T uc010bff.2 - 8 1064 c.927C>A c.(925-927)ACC>ACA p.T309T MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 309 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GAAGCGTGAAGGTCTTTTGAG 0.323 5 98 --- --- --- --- PASS CSNK1G1 53944 broad.mit.edu 37 15 64495336 64495336 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:64495336C>G uc002anf.2 - 10 1532 c.1052G>C c.(1051-1053)CGA>CCA p.R351P CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R351P|CSNK1G1_uc002anh.1_Missense_Mutation_p.R351P|CSNK1G1_uc002anj.2_Missense_Mutation_p.R333P NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 351 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 GTGGCTTTCTCGAGTTATTGC 0.453 9 19 --- --- --- --- PASS PARP6 56965 broad.mit.edu 37 15 72542428 72542428 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:72542428G>A uc002auc.2 - 18 1883 c.1424C>T c.(1423-1425)TCC>TTC p.S475F PARP6_uc002aua.2_Missense_Mutation_p.S321F|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.S476F NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 475 PARP catalytic. NAD+ ADP-ribosyltransferase activity 0 CTCAATGTGGGACCCACTGTA 0.507 7 41 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79749056 79749056 + Silent SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr15:79749056C>G uc002bew.1 + 2 642 c.567C>G c.(565-567)GCC>GCG p.A189A KIAA1024_uc010unk.1_Silent_p.A189A NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 189 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 AAAACCGCGCCGCTTCCCTGG 0.572 14 32 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19041589 19041589 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr16:19041589T>C uc002dfq.2 + 6 885 c.755T>C c.(754-756)ATT>ACT p.I252T TMC7_uc010vao.1_Missense_Mutation_p.I252T|TMC7_uc002dfp.2_Missense_Mutation_p.I252T|TMC7_uc010vap.1_Missense_Mutation_p.I142T NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 252 Extracellular (Potential). integral to membrane skin(2)|ovary(1) 3 CATTACACCATTGATGGGGTG 0.483 44 27 --- --- --- --- PASS TMEM159 57146 broad.mit.edu 37 16 21181808 21181808 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr16:21181808G>A uc002dif.3 + 3 508 c.147G>A c.(145-147)CCG>CCA p.P49P TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Silent_p.P73P|TMEM159_uc002dih.3_Silent_p.P49P NM_020422 NP_065155 Q96B96 TM159_HUMAN transmembrane protein 159 49 integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0972) ACAGCCATCCGTTTCTGGCCT 0.537 55 19 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5039221 5039221 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:5039221C>T uc002gau.1 + 17 2892 c.662C>T c.(661-663)CCA>CTA p.P221L USP6_uc002gav.1_Missense_Mutation_p.P221L|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 221 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CACTCCCTGCCAGGTAGGTGA 0.622 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 17 25 --- --- --- --- PASS ATP1B2 482 broad.mit.edu 37 17 7557573 7557573 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:7557573C>T uc002gif.1 + 4 1133 c.550C>T c.(550-552)CGG>TGG p.R184W NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 184 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CAAGATGAACCGGGTATCTAT 0.557 37 123 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G A A rs121913344 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 60 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:7577138C>G uc002gim.2 - 8 994 c.800G>C c.(799-801)CGG>CCG p.R267P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 267 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAAGCTGTTCCGTCCCAGTAG 0.527 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 18 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:7578177C>T uc002gim.2 - 6 866 c.672G>A c.(670-672)GAG>GAA p.E224E TP53_uc002gig.1_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 224 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAACCAGACCTCAGGCGGCT 0.522 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 20 --- --- --- --- PASS GLP2R 9340 broad.mit.edu 37 17 9792887 9792887 + Silent SNP T G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:9792887T>G uc002gmd.1 + 13 1527 c.1527T>G c.(1525-1527)GGT>GGG p.G509G NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 509 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) CCATGCGAGGTCTTGGGGAGC 0.627 18 31 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10359023 10359023 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:10359023C>A uc002gmn.2 - 19 2193 c.2082G>T c.(2080-2082)CTG>CTT p.L694L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 694 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCAGCTGATGCAGGACAAGCT 0.488 17 44 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10400644 10400644 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:10400644G>T uc002gmo.2 - 32 4585 c.4491C>A c.(4489-4491)GAC>GAA p.D1497E uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1497 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TTTCAAGTTGGTCTAAAGATT 0.338 11 37 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11532901 11532901 + Silent SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:11532901G>C uc002gne.2 + 7 1586 c.1518G>C c.(1516-1518)ACG>ACC p.T506T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 506 Potential.|Stem (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 skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 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) TCCAAAGCACGGTAGGGTTGG 0.512 13 49 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27011913 27011913 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:27011913C>A uc002hby.2 + 19 2511 c.2421C>A c.(2419-2421)GAC>GAA p.D807E SUPT6H_uc010crt.2_Missense_Mutation_p.D807E NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 807 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) AAGTGACAGACTTCCTTCGAC 0.478 4 62 --- --- --- --- PASS DDX52 11056 broad.mit.edu 37 17 35993348 35993348 + Silent SNP G A A rs145856014 byFrequency TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:35993348G>A uc002hoi.1 - 3 425 c.387C>T c.(385-387)TCC>TCT p.S129S DDX52_uc002hoh.1_Silent_p.S21S|DDX52_uc002hoj.1_Silent_p.S37S NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 129 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) CCAACTTTCCGGAAGTTAGTT 0.358 31 67 --- --- --- --- PASS GSDMB 55876 broad.mit.edu 37 17 38073399 38073399 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:38073399G>T uc010cwj.2 - 1 176 c.171C>A c.(169-171)ACC>ACA p.T57T GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.T57T|GSDMB_uc002hth.2_Silent_p.T57T|GSDMB_uc010wem.1_Silent_p.T57T NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 57 cytoplasm breast(1)|pancreas(1) 2 TGTCCATCAGGGTGAGGCCTG 0.517 8 174 --- --- --- --- PASS TEX14 56155 broad.mit.edu 37 17 56670914 56670914 + Splice_Site SNP A G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:56670914A>G uc010dcz.1 - 15 2712 c.2594_splice c.e15+1 p.S865_splice TEX14_uc002iwr.1_Splice_Site_p.S859_splice|TEX14_uc002iws.1_Splice_Site_p.S859_splice|TEX14_uc010dda.1_Splice_Site_p.S639_splice NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGTTGACCCACCTACTGGTA 0.423 14 31 --- --- --- --- PASS KCNJ16 3773 broad.mit.edu 37 17 68128628 68128628 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:68128628T>C uc002jin.2 + 5 886 c.400T>C c.(400-402)TAT>CAT p.Y134H KCNJ16_uc002jio.2_Missense_Mutation_p.Y134H|KCNJ16_uc002jip.2_Missense_Mutation_p.Y134H|KCNJ16_uc002jiq.2_Missense_Mutation_p.Y166H NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 134 Selectivity filter (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CACCATAGGATATGGTTATCG 0.438 7 62 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74899417 74899417 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:74899417C>T uc002jti.2 + 4 614 c.511C>T c.(511-513)CCC>TCC p.P171S MGAT5B_uc002jth.2_Missense_Mutation_p.P160S NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 160 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GTGTGAGGCACCCAGTGACCC 0.647 12 45 --- --- --- --- PASS SGSH 6448 broad.mit.edu 37 17 78184602 78184602 + Silent SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:78184602G>T uc002jxz.3 - 8 1245 c.1158C>A c.(1156-1158)CTC>CTA p.L386L SGSH_uc002jya.3_Silent_p.L183L|SGSH_uc002jxy.2_3'UTR NM_000199 NP_000190 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase precursor 386 L -> R (in MPS3A). proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGTTGTGCACGAGGCGGAAGT 0.627 4 90 --- --- --- --- PASS C17orf70 80233 broad.mit.edu 37 17 79514423 79514423 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:79514423G>C uc002kaq.2 - 5 1740 c.1685C>G c.(1684-1686)GCC>GGC p.A562G C17orf70_uc002kao.1_Missense_Mutation_p.A211G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A411G NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 562 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GTAGGTGATGGCGGAGCAGGC 0.682 35 33 --- --- --- --- PASS WDR45L 56270 broad.mit.edu 37 17 80575270 80575270 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr17:80575270G>A uc002kfq.2 - 8 903 c.708C>T c.(706-708)ATC>ATT p.I236I WDR45L_uc002kfr.2_RNA NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN WDR45-like 236 WD 2. autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) GATTGAAGTTGATGCTGCAGA 0.502 12 30 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21427528 21427528 + Silent SNP A G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr18:21427528A>G uc002kuq.2 + 32 4118 c.4032A>G c.(4030-4032)TCA>TCG p.S1344S LAMA3_uc002kur.2_Silent_p.S1344S NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1344 Laminin EGF-like 10.|Domain III B. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGACACACTCATTCAGCTTCC 0.657 24 4 --- --- --- --- PASS MC4R 4160 broad.mit.edu 37 18 58038736 58038736 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr18:58038736G>T uc002lie.1 - 1 1266 c.847C>A c.(847-849)CAC>AAC p.H283N NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 283 Helical; Name=7; (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AAGTTAAAGTGAGACATGAAG 0.413 5 73 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2137779 2137779 + Missense_Mutation SNP A T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:2137779A>T uc002luz.2 - 3 443 c.220T>A c.(220-222)TGG>AGG p.W74R AP3D1_uc002luy.2_Missense_Mutation_p.W74R|AP3D1_uc002lva.2_Missense_Mutation_p.W74R NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 74 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 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) AAGGCGGCCCAGCTGATGTCG 0.522 109 26 --- --- --- --- PASS XAB2 56949 broad.mit.edu 37 19 7685168 7685168 + Silent SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:7685168C>T uc002mgx.2 - 16 2285 c.2259G>A c.(2257-2259)ACG>ACA p.T753T NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 753 SAT -> IP (in Ref. 2; AAF86951). transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 CACCGGTGCCCGTGGCACTGC 0.637 Direct_reversal_of_damage|NER 4 18 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9077425 9077425 + Nonsense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:9077425C>A uc002mkp.2 - 3 10225 c.10021G>T c.(10021-10023)GGA>TGA p.G3341* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3342 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AATTCCATTCCAGTTGTCTTT 0.498 5 167 --- --- --- --- PASS ASNA1 439 broad.mit.edu 37 19 12856427 12856427 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:12856427G>T uc002muv.2 + 4 477 c.463G>T c.(463-465)GTG>TTG p.V155L ASNA1_uc002muw.2_Missense_Mutation_p.V154L NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 155 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) CCTCAGGCTGGTGAAGGGCAT 0.667 38 14 --- --- --- --- PASS C19orf46 163183 broad.mit.edu 37 19 36494565 36494565 + Missense_Mutation SNP C G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:36494565C>G uc002ocq.1 - 7 1070 c.981G>C c.(979-981)AAG>AAC p.K327N C19orf46_uc002ocr.1_Missense_Mutation_p.E268Q|C19orf46_uc002ocs.1_Missense_Mutation_p.K214N|C19orf46_uc010een.1_Missense_Mutation_p.K242N NM_001039876 NP_001034965 Q8N205 SYNE4_HUMAN hypothetical protein LOC163183 327 Cytoplasmic (Potential). establishment of epithelial cell apical/basal polarity integral to nuclear outer membrane actin binding ovary(1) 1 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ATGCTTGCCTCTTCTTGTCCT 0.433 4 22 --- --- --- --- PASS ZNF568 374900 broad.mit.edu 37 19 37440987 37440987 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:37440987G>C uc002ofc.2 + 7 1447 c.932G>C c.(931-933)TGT>TCT p.C311S ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C235S|ZNF568_uc010efe.2_Missense_Mutation_p.C235S|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 311 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTAAGGATTGTTGGAAAGCC 0.383 11 31 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39108208 39108208 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:39108208C>T uc002oix.1 - 2 265 c.157G>A c.(157-159)GAT>AAT p.D53N MAP4K1_uc002oiy.1_Missense_Mutation_p.D53N|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 53 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCTCCTCACCAGGCTCCATC 0.602 10 26 --- --- --- --- PASS CEACAM6 4680 broad.mit.edu 37 19 42265295 42265295 + Missense_Mutation SNP G C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:42265295G>C uc002orm.2 + 3 712 c.563G>C c.(562-564)AGT>ACT p.S188T NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 188 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTCCCGGTCAGTCCCAGGCTG 0.537 87 204 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44515453 44515453 + Missense_Mutation SNP A G G TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr19:44515453A>G uc002oyb.1 + 5 1513 c.1262A>G c.(1261-1263)AAA>AGA p.K421R NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 421 C2H2-type 10; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) AAACCCTTCAAATGTGAGGAT 0.438 47 21 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2384287 2384287 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr20:2384287C>A uc002wfy.1 + 9 1215 c.1154C>A c.(1153-1155)GCT>GAT p.A385D TGM6_uc010gal.1_Missense_Mutation_p.A385D NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 385 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GTGCACCTGGCTCACGATGGC 0.622 31 45 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50406807 50406807 + Missense_Mutation SNP C T T rs41274696 byFrequency TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr20:50406807C>T uc002xwh.3 - 2 2316 c.2215G>A c.(2215-2217)GCC>ACC p.A739T SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 739 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTAAAAGGGGCAGGACCCACT 0.592 7 20 --- --- --- --- PASS OGFR 11054 broad.mit.edu 37 20 61444873 61444873 + Nonsense_Mutation SNP G T T rs141833389 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr20:61444873G>T uc002ydj.2 + 7 1941 c.1906G>T c.(1906-1908)GAG>TAG p.E636* OGFR_uc002ydk.2_Nonsense_Mutation_p.E619*|OGFR_uc002ydl.2_Nonsense_Mutation_p.E584*|uc011aam.1_Silent_p.R4R NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 636 6.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) CGAGCCAGCCGAGAGCCCATC 0.731 6 6 --- --- --- --- PASS KRTAP6-2 337967 broad.mit.edu 37 21 31971186 31971186 + Missense_Mutation SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr21:31971186C>A uc011adc.1 - 1 8 c.8G>T c.(7-9)GGC>GTC p.G3V KRTAP22-1_uc011add.1_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 3 intermediate filament 0 GTAGTAGCTGCCGCACATCGT 0.493 21 31 --- --- --- --- PASS GAL3ST1 9514 broad.mit.edu 37 22 30951444 30951444 + Silent SNP G A A rs35962480 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:30951444G>A uc003aig.1 - 4 908 c.768C>T c.(766-768)GAC>GAT p.D256D GAL3ST1_uc003aih.1_Silent_p.D256D|GAL3ST1_uc003aii.1_Silent_p.D256D|GAL3ST1_uc010gvz.1_Silent_p.D256D NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 256 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CCAGCGACTCGTCGAAGTACT 0.642 6 135 --- --- --- --- PASS GAL3ST1 9514 broad.mit.edu 37 22 30951744 30951744 + Silent SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:30951744G>A uc003aig.1 - 4 608 c.468C>T c.(466-468)AAC>AAT p.N156N GAL3ST1_uc003aih.1_Silent_p.N156N|GAL3ST1_uc003aii.1_Silent_p.N156N|GAL3ST1_uc010gvz.1_Silent_p.N156N NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 156 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 TGAAGATGGCGTTGGTCGGCA 0.657 31 51 --- --- --- --- PASS LIMK2 3985 broad.mit.edu 37 22 31674411 31674411 + Missense_Mutation SNP G T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:31674411G>T uc003akh.2 + 16 2046 c.1901G>T c.(1900-1902)CGG>CTG p.R634L LIMK2_uc003aki.2_Missense_Mutation_p.R388L|LIMK2_uc003akk.2_Missense_Mutation_p.R613L|LIMK2_uc011aln.1_Missense_Mutation_p.R551L NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 634 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 GGCCTGACCCGGGACTCACCT 0.662 59 83 --- --- --- --- PASS CDC42EP1 11135 broad.mit.edu 37 22 37964144 37964144 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:37964144C>T uc003asz.3 + 3 896 c.493C>T c.(493-495)CGC>TGC p.R165C NM_152243 NP_689449 Q00587 BORG5_HUMAN CDC42 effector protein 1 165 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding 0 Melanoma(58;0.0574) CACCATCTCCCGCCTGCCCCG 0.632 53 80 --- --- --- --- PASS APOBEC3A 200315 broad.mit.edu 37 22 39357613 39357613 + Silent SNP C T T rs141631289 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:39357613C>T uc003awn.2 + 3 566 c.396C>T c.(394-396)TAC>TAT p.Y132Y APOBEC3A_uc011aob.1_Silent_p.Y114Y|APOBEC3A_uc011aoc.1_Silent_p.Y132Y NM_145699 NP_663745 P31941 ABC3A_HUMAN phorbolin 1 132 cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1) 1 Melanoma(58;0.04) TCTATGATTACGACCCCCTAT 0.572 8 107 --- --- --- --- PASS RBX1 9978 broad.mit.edu 37 22 41349630 41349630 + Missense_Mutation SNP G A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:41349630G>A uc003azk.2 + 2 168 c.150G>A c.(148-150)ATG>ATA p.M50I XPNPEP3_uc011aoy.1_RNA NM_014248 NP_055063 P62877 RBX1_HUMAN ring-box 1 50 DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex NEDD8 ligase activity|protein binding|zinc ion binding skin(1) 1 ACCACATTATGGATCTTTGTA 0.458 18 71 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42608247 42608247 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr22:42608247C>T uc003bcj.1 - 1 3199 c.3065G>A c.(3064-3066)CGG>CAG p.R1022Q TCF20_uc003bck.1_Missense_Mutation_p.R1022Q|TCF20_uc003bnt.2_Missense_Mutation_p.R1022Q NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1022 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCCTCTGCTCCGCCCAGGAGA 0.547 14 37 --- --- --- --- PASS CXorf22 170063 broad.mit.edu 37 X 35974179 35974179 + Missense_Mutation SNP A C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:35974179A>C uc004ddj.2 + 8 1335 c.1276A>C c.(1276-1278)ATG>CTG p.M426L CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 426 large_intestine(1)|lung(1)|ovary(1) 3 ACCTTGTTTCATGGGTGAACG 0.363 18 19 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64749609 64749609 + Missense_Mutation SNP T C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:64749609T>C uc004dwa.1 - 5 736 c.664A>G c.(664-666)ATC>GTC p.I222V LAS1L_uc004dwc.1_Missense_Mutation_p.I222V|LAS1L_uc004dwd.1_Missense_Mutation_p.I180V NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 222 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TGTTCTGTGATGTCATCAACA 0.488 46 11 --- --- --- --- PASS NOX1 27035 broad.mit.edu 37 X 100117753 100117753 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:100117753C>T uc004egj.2 - 5 600 c.394G>A c.(394-396)GCC>ACC p.A132T uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.A132T|NOX1_uc010nne.2_Missense_Mutation_p.A95T NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 132 Extracellular (Potential).|Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 CCATCTGTGGCCTGTCGGCTT 0.463 56 70 --- --- --- --- PASS COL4A5 1287 broad.mit.edu 37 X 107834432 107834432 + Missense_Mutation SNP C T T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:107834432C>T uc004enz.1 + 20 1512 c.1310C>T c.(1309-1311)CCT>CTT p.P437L COL4A5_uc011mso.1_Missense_Mutation_p.P437L|COL4A5_uc004eob.1_Missense_Mutation_p.P45L NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 437 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CCAGGGCCTCCTGGCCCTGCT 0.468 Alport_syndrome_with_Diffuse_Leiomyomatosis 33 10 --- --- --- --- PASS AKAP14 158798 broad.mit.edu 37 X 119048814 119048814 + Silent SNP C A A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:119048814C>A uc004ese.2 + 5 552 c.414C>A c.(412-414)ACC>ACA p.T138T AKAP14_uc004esf.2_Intron NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 138 cytoplasm 0 CCTACTTCACCATGAAGGTCT 0.388 6 123 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 157918376 157918376 + RNA DEL G - - rs3832020 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr1:157918376delG uc001frl.1 + 4 c.556delG Homo sapiens cDNA FLJ32876 fis, clone TESTI2004073. CCTGCCAGAAGCACCATACAG 0.453 OREG0013904 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 --- --- --- --- Unknown 0 broad.mit.edu 37 3 107182708 107182708 + RNA DEL C - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:107182708delC uc003dwj.2 + 3 c.1436delC Homo sapiens cDNA clone IMAGE:5312582. AGCAAAACAGCCAAGCCTTTT 0.358 4 2 --- --- --- --- VWA5B2 90113 broad.mit.edu 37 3 183955104 183955105 + Frame_Shift_Ins INS - C C TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr3:183955104_183955105insC uc011bra.1 + 11 1624_1625 c.1624_1625insC c.(1624-1626)ACCfs p.T542fs VWA5B2_uc011brb.1_Frame_Shift_Ins_p.T323fs|VWA5B2_uc003fnd.2_Frame_Shift_Ins_p.T262fs NM_138345 NP_612354 B9EGN7 B9EGN7_HUMAN von Willebrand factor A domain containing 5B2 542 0 GGCACTGCTGACCCCCCGGGAG 0.629 7 25 --- --- --- --- GAK 2580 broad.mit.edu 37 4 898493 898495 + In_Frame_Del DEL AGA - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr4:898493_898495delAGA uc003gbm.3 - 5 654_656 c.455_457delTCT c.(454-459)TTCTAC>TAC p.F152del GAK_uc003gbn.3_In_Frame_Del_p.F73del|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_In_Frame_Del_p.F16del NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 152 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CACGTCTGGTAGAAGATCTTCAG 0.552 11 16 --- --- --- --- INTS1 26173 broad.mit.edu 37 7 1538685 1538687 + In_Frame_Del DEL TGA - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr7:1538685_1538687delTGA uc003skn.2 - 8 1162_1164 c.1061_1063delTCA c.(1060-1065)CTCACC>CCC p.354_355LT>P INTS1_uc003skq.2_In_Frame_Del_p.354_355LT>P NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 354_355 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CAGGTGGAGGTGAGGAGCCGCAG 0.567 3 3 --- --- --- --- Unknown 0 broad.mit.edu 37 9 68412348 68412348 + RNA DEL A - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:68412348delA uc004aew.1 + 2 c.510delA uc004aex.2_5'Flank Homo sapiens cDNA, FLJ98602. GAGGGCAAAGAAACGTGGAAT 0.552 8 5 --- --- --- --- LAMC3 10319 broad.mit.edu 37 9 133961063 133961065 + In_Frame_Del DEL AAG - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr9:133961063_133961065delAAG uc004caa.1 + 25 4281_4283 c.4183_4185delAAG c.(4183-4185)AAGdel p.K1397del LAMC3_uc010mze.1_In_Frame_Del_p.K85del NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1397 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCCAGTGCCAAGAAGAAGGGCA 0.616 25 15 --- --- --- --- ADAMTS15 170689 broad.mit.edu 37 11 130331416 130331416 + Frame_Shift_Del DEL G - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr11:130331416delG uc010scd.1 + 2 990 c.990delG c.(988-990)CTGfs p.L330fs NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 330 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GTGACACCCTGGGCATGGCTG 0.597 28 44 --- --- --- --- FAM38A 9780 broad.mit.edu 37 16 88800396 88800398 + In_Frame_Del DEL CTG - - rs62639697 TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chr16:88800396_88800398delCTG uc010vpb.1 - 17 2248_2250 c.2245_2247delCAG c.(2245-2247)CAGdel p.Q749del FAM38A_uc002flr.3_In_Frame_Del_p.Q317del|FAM38A_uc010cib.2_In_Frame_Del_p.Q286del|uc010vpc.1_Intron NM_001142864 NP_001136336 Q92508 PIEZ1_HUMAN family with sequence similarity 38, member A 749 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane ion channel activity 0 cctcctcctcctgctgctgctgc 0.458 0 7 --- --- --- --- ARAF 369 broad.mit.edu 37 X 47424714 47424714 + Frame_Shift_Del DEL C - - TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx b704a17a-9ee9-4555-b2bb-250ac1ec5bed 55e476a9-f8cb-4765-965d-c98e43c6742d g.chrX:47424714delC uc011mlq.1 + 6 655 c.522delC c.(520-522)CGCfs p.R174fs ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.R40fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.R174fs|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 174 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CCTCGAACCGCCCCCTGAATG 0.572 4 8 --- --- --- ---