Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HTR3C 170572 broad.mit.edu 37 3 183777748 183777748 + Missense_Mutation SNP A A T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:183777748A>T uc003fmk.3 + 7 1092 c.1058A>T c.(1057-1059)cAc>cTc p.H353L NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA. 353 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGCTGCTCCACTGCACCAGC 0.642000 23 50 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20869182 20869182 + Missense_Mutation SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr14:20869182G>T uc001vxe.3 - 8 1550 c.1510C>A c.(1510-1512)Cta>Ata p.L504I TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L396I NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 504 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTCCCCCGTAGGCTCAGCTCC 0.547000 51 107 0 0 1 0 0 C18orf62 284274 broad.mit.edu 37 18 73130763 73130763 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr18:73130763T>C uc002lma.1 - 1 309 c.238A>G c.(238-240)Agg>Ggg p.R80G C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript NM_001037331 NP_001032408 Q3B7S5 CR062_HUMAN Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA. 80 integral to membrane p.R80G(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 Esophageal squamous(42;0.131)|Prostate(75;0.155) OV - Ovarian serous cystadenocarcinoma(15;6.21e-06) ctgttggcccttttccagtct 0.368000 3 199 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182783539 182783539 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:182783539A>G uc002uoi.3 + 12 3245 c.2923A>G c.(2923-2925)Atg>Gtg p.M975V SSFA2_uc002uoh.3_Missense_Mutation_p.M975V|SSFA2_uc002uoj.3_Missense_Mutation_p.M975V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.M822V|SSFA2_uc002uol.3_Missense_Mutation_p.M822V|SSFA2_uc002uom.3_Missense_Mutation_p.M443V NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 975 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TAGAACACAAATGATGGATTT 0.373000 3 99 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967675 57967675 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967675G>A uc002qos.2 - 0 433 c.180C>T c.(178-180)atC>atT p.I60I NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA. 60 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.G59E(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AATTTCCCAGGATCCCAACTC 0.413000 14 88 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15024673 15024673 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chrY:15024673A>G uc004fsu.1 + 5 625 c.316A>G c.(316-318)Att>Gtt p.I106V DDX3Y_uc010nwv.1_Missense_Mutation_p.I106V|DDX3Y_uc011naq.1_Missense_Mutation_p.I106V|DDX3Y_uc004fsv.2_Missense_Mutation_p.I106V|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.I103V NM_001122665 NP_004651 O15523 DDX3Y_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA. 106 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CTATGATGGTATTGGCAATCG 0.433000 4 65 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41364115 41364115 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr15:41364115T>C uc001zni.3 - 11 1750 c.1537A>G c.(1537-1539)Att>Gtt p.I513V INO80_uc010ucu.2_Non-coding_Transcript NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 513 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCATTAAAAATTGTGGGCTGT 0.448000 3 218 0 0 1 0 0 BSG 682 broad.mit.edu 37 19 579410 579410 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:579410C>T uc002lpc.3 + 0 561 c.467C>T c.(466-468)cCg>cTg p.P156L BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002loz.3_Intron|BSG_uc002lpa.3_Intron NM_198589 NP_940991 P35613 BASI_HUMAN Homo sapiens basigin (Ok blood group) (BSG), transcript variant 2, mRNA. 0 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CAGTCCTTCCCGGGGAGGAGC 0.677000 4 38 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687826 61687826 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:61687826G>C uc002eog.2 - 11 3041 c.2086C>G c.(2086-2088)Ccc>Gcc p.P696A NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 696 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCCTTACGGGGTAAAAATCCA 0.408000 39 188 0 0 1 0 0 HUS1 3364 broad.mit.edu 37 7 48016402 48016402 + Silent SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr7:48016402G>T uc003tod.2 - 3 496 c.390C>A c.(388-390)acC>acA p.T130T NM_004507 NP_004498 O60921 HUS1_HUMAN Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA. 130 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) GGATGTCATGGGTCACAATGC 0.408000 Direct reversal of damage;Other conserved DNA damage response genes 7 247 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40899976 40899976 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr7:40899976G>A uc022acd.1 + 14 1338 c.1314G>A c.(1312-1314)ggG>ggA p.G438G C7orf10_uc003thn.2_Silent_p.G412G|C7orf10_uc003tho.2_Silent_p.G364G|C7orf10_uc003thp.2_Non-coding_Transcript NM_001193311 NP_001180240 Q9HAC7 CG010_HUMAN Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA. 412 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CGCTGCTCGGGCAGCACACAA 0.572000 11 285 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9013729 9013729 + Splice_Site SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr12:9013729A>G uc001quz.4 + 28 3438 c.3340_splice c.e28-2 p.D1114_splice A2ML1_uc001qva.1_Splice_Site_p.D694_splice|A2ML1_uc010sgm.2_Splice_Site_p.D614_splice NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 958 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTCACTTTTTAGGACCCAATG 0.433000 3 193 0 0 1 0 0 ZFAND3 60685 broad.mit.edu 37 6 38029485 38029485 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr6:38029485A>G uc003onx.3 + 2 644 c.229A>G c.(229-231)Act>Gct p.T77A NM_021943 NP_068762 Q9H8U3 ZFAN3_HUMAN Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA. 77 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 AACCACGCCAACTCTTAGTCC 0.493000 15 49 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48591854 48591854 + Silent SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr4:48591854A>G uc003gyh.1 - 17 2153 c.1548T>C c.(1546-1548)gaT>gaC p.D516D FRYL_uc003gyk.3_Silent_p.D516D NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TGAGGATGCTATCTAATGCTT 0.353000 4 249 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49409405 49409405 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:49409405C>T uc001jgi.3 - 14 2151 c.1820G>A c.(1819-1821)aGc>aAc p.S607N FRMPD2_uc001jgh.3_Missense_Mutation_p.S575N|FRMPD2_uc001jgj.3_Missense_Mutation_p.S576N NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 607 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AGTGACACTGCTTGTGATGGT 0.453000 52 170 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 364573 364573 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:364573G>A uc002cgp.2 - 2 1378 c.989C>T c.(988-990)gCa>gTa p.A330V LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A330V NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 330 Interaction with TP53 (By similarity). Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CAGGGTGTCTGCATCGCTGGA 0.627000 14 56 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238045749 238045749 + Silent SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr1:238045749C>T uc001hym.3 - 11 1883 c.1596G>A c.(1594-1596)aaG>aaA p.K532K LOC100130331_uc010pyc.2_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA. 532 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTGGGCAACTCTTCTGTTTCT 0.443000 5 209 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128540102 128540102 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr6:128540102G>A uc011ebu.2 - 5 1200 c.833C>T c.(832-834)tCc>tTc p.S278F PTPRK_uc010kfc.3_Missense_Mutation_p.S278F|PTPRK_uc003qbj.3_Missense_Mutation_p.S278F|PTPRK_uc003qbk.3_Missense_Mutation_p.S278F|PTPRK_uc003qbl.1_Missense_Mutation_p.S148F|PTPRK_uc011ebv.1_Missense_Mutation_p.S278F NM_001135648 NP_001129120 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 1, mRNA. 278 Ig-like C2-type. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GGACACACCGGAACCTCGTTC 0.398000 41 158 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040719 184040719 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:184040719A>G uc010hxx.3 + 13 2198 c.1927A>G c.(1927-1929)Atc>Gtc p.I643V EIF4G1_uc003fno.2_Missense_Mutation_p.I577V|EIF4G1_uc010hxw.2_Missense_Mutation_p.I472V|EIF4G1_uc003fnt.3_Missense_Mutation_p.I347V|EIF4G1_uc010hxy.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnp.3_Missense_Mutation_p.I636V|EIF4G1_uc003fnq.3_Missense_Mutation_p.I549V|EIF4G1_uc003fnr.3_Missense_Mutation_p.I472V|EIF4G1_uc003fns.3_Missense_Mutation_p.I596V|EIF4G1_uc003fnv.4_Missense_Mutation_p.I636V|EIF4G1_uc003fnw.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnx.3_Missense_Mutation_p.I440V|SNORD66_uc003fnz.3_5'Flank NM_001194946 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 6, mRNA. 636 MIF4G. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.K643N(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTGCCACATATCAGTGACGT 0.507000 6 285 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64882196 64882196 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr14:64882196G>C uc010aqf.3 + 4 748 c.529G>C c.(529-531)Gag>Cag p.E177Q MTHFD1_uc010aqe.2_Missense_Mutation_p.E157Q|MTHFD1_uc001xhb.3_Missense_Mutation_p.E121Q NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 121 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TATTGCACCCGAGAAGGATGT 0.383000 3 280 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43547305 43547305 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr21:43547305G>A uc002zag.1 + 17 3867 c.3867G>A c.(3865-3867)ccG>ccA p.P1289P UMODL1_uc002zad.1_Silent_p.P1089P|UMODL1_uc002zae.1_Silent_p.P1217P|UMODL1_uc002zaf.1_Silent_p.P1161P|UMODL1_uc002zal.1_Silent_p.P111P|UMODL1_uc010gpa.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1161 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGGCAACCCCGTCTAGCAACG 0.562000 5 126 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894497 166894497 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:166894497A>G uc002udo.4 - 16 2962 c.2735T>C c.(2734-2736)tTt>tCt p.F912S SCN1A_uc010fpk.3_Missense_Mutation_p.F884S|SCN1A_uc021vsb.1_Missense_Mutation_p.F901S NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 912 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTTTTACCAAAGAGCTGCAT 0.478000 35 117 0 0 1 0 0 THYN1 29087 broad.mit.edu 37 11 134122752 134122752 + Missense_Mutation SNP C C G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:134122752C>G uc001qhf.3 - 1 127 c.25G>C c.(25-27)Gct>Cct p.A9P THYN1_uc001qhg.3_Missense_Mutation_p.A9P|THYN1_uc001qhh.3_Missense_Mutation_p.A9P|THYN1_uc001qhi.3_Missense_Mutation_p.A9P|THYN1_uc001qhj.3_Missense_Mutation_p.A9P|THYN1_uc009zdb.3_Missense_Mutation_p.A9P|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank NM_001037305 NP_954995 Q9P016 THYN1_HUMAN Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA. 9 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) GAAGTCCCAGCCAGCCTCTTC 0.512000 3 148 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13751210 13751210 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr5:13751210T>C uc003jfd.2 - 64 11230 c.11188A>G c.(11188-11190)Agg>Ggg p.R3730G DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3730 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAATGACCCTCCCCAGTAAC 0.443000 Kartagener syndrome 32 70 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200825160 200825160 + Missense_Mutation SNP T T G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr1:200825160T>G uc001gvl.3 + 15 4222 c.3952T>G c.(3952-3954)Tta>Gta p.L1318V CAMSAP2_uc001gvk.3_Missense_Mutation_p.L1307V|CAMSAP2_uc001gvm.3_Missense_Mutation_p.L1291V NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 1318 cytoplasm|microtubule protein binding AGAAGGCTTCTTATCTCCAAG 0.388000 6 288 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967712 57967712 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967712G>A uc002qos.2 - 0 396 c.143C>T c.(142-144)tCa>tTa p.S48L NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA. 48 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GCTAATCCCTGATTTTACTTT 0.358000 17 91 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121424735 121424735 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:121424735G>A uc001pxx.3 + 16 2485 c.2356G>A c.(2356-2358)Ggg>Agg p.G786R NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 786 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCCTCTCACCGGGCTACGGGC 0.562000 4 234 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87683262 87683262 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr8:87683262G>C uc003ydx.3 - 3 451 c.403C>G c.(403-405)Ctg>Gtg p.L135V CNGB3_uc010maj.3_5'UTR NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 135 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTTTTCACCAGGTTGTGTAGC 0.473000 12 499 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95797678 95797678 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr9:95797678C>T uc004asw.2 + 17 2613 c.1985C>T c.(1984-1986)cCt>cTt p.P662L FGD3_uc004asx.2_Missense_Mutation_p.P661L|FGD3_uc004asz.2_Missense_Mutation_p.P662L|FGD3_uc011luc.1_Missense_Mutation_p.P265L NM_001083536 NP_149077 Q5JSP0 FGD3_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 1, mRNA. 662 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GTGCCGGACCCTGAGGAGAGG 0.672000 6 13 0 0 1 0 0 C10orf76 79591 broad.mit.edu 37 10 103735059 103735059 + Splice_Site SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:103735059T>C uc009xwy.1 - 20 1509 c.1407_splice c.e20-1 p.I469_splice C10orf76_uc009xwx.1_Splice_Site NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA. 469 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATGCAGCGTCTGTAACAGGGA 0.493000 19 49 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122273473 122273473 + Silent SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:122273473C>T uc001lev.1 + 2 568 c.216C>T c.(214-216)atC>atT p.I72I PPAPDC1A_uc010qtd.2_Silent_p.I72I|PPAPDC1A_uc009xzl.1_Silent_p.I72I|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA. 72 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TGAAAATTATCCGGCGAACAG 0.413000 4 184 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190019 58190019 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:58190019C>T uc010rkg.2 - 0 768 c.716G>A c.(715-717)tGt>tAt p.C239Y NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGAGAGGCACAGGTGGACAA 0.438000 27 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064376 9064376 + Silent SNP C C T rs150330701 by1000genomes TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:9064376C>T uc002mkp.3 - 2 23274 c.23070G>A c.(23068-23070)ccG>ccA p.P7690P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7692 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAAAGACAGCGGGGAGGATG 0.562000 7 55 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96310945 96310945 + Missense_Mutation SNP A A C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr12:96310945A>C uc001tek.2 - 3 500 c.266T>G c.(265-267)tTt>tGt p.F89C NM_182496 NP_872302 Q502W7 CCD38_HUMAN Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA. 89 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACCTGGCCCAAACTTTTCAAA 0.373000 6 94 0 0 1 0 0 FAM75D5 347127 broad.mit.edu 37 9 84530744 84530744 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr9:84530744T>C uc011lst.2 + 3 766 c.665T>C c.(664-666)cTt>cCt p.L222P Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA. CCCTCTCCCCTTTTCCCACCG 0.542000 3 200 0 0 1 0 0 C11orf9 745 broad.mit.edu 37 11 61551039 61551039 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:61551039C>T uc001nsc.1 + 22 3182 c.3086C>T c.(3085-3087)aCc>aTc p.T1029I C11orf9_uc001nse.1_Missense_Mutation_p.T989I|C11orf9_uc010rll.1_Missense_Mutation_p.T415I|C11orf9_uc021qkh.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA. 1029 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1) 29 ATGTCCATCACCTCCCAGTAC 0.617000 5 308 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31728716 31728716 + Silent SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr13:31728716T>C uc010aay.1 - 3 760 c.489A>G c.(487-489)gtA>gtG p.V163V HSPH1_uc001utj.3_Intron|HSPH1_uc001utk.3_Intron|HSPH1_uc010aaw.3_Intron|HSPH1_uc001utl.3_Intron|HSPH1_uc010tds.2_Intron|HSPH1_uc010tdt.1_Intron|HSPH1_uc010aax.1_Intron Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 0 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TTAAAAGTAATACAAAGAACG 0.353000 14 46 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800585 74800585 + Silent SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:74800585G>T uc010rro.2 - 0 174 c.174C>A c.(172-174)ccC>ccA p.P58P NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TGTGGAGGCTGGGCTCTGCCA 0.502000 5 87 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95773945 95773945 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:95773945G>A uc002sub.3 - 4 830 c.612C>T c.(610-612)ggC>ggT p.G204G MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Silent_p.G204G NM_031902 NP_114108 P82675 RT05_HUMAN Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA. 204 translation mitochondrion|ribosome RNA binding|protein binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GGTCAGGGGGGCCAAGACTGA 0.488000 4 130 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27332763 27332763 + Missense_Mutation SNP C C G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:27332763C>G uc003cdt.2 - 18 1869 c.1595G>C c.(1594-1596)tGt>tCt p.C532S NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 532 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTTGTAAACACAGCCAAAAGC 0.383000 8 45 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967438 57967438 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967438G>C uc002qos.2 - 0 670 c.417C>G c.(415-417)atC>atG p.I139M NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA. 139 I -> T (in allele VN1R1*2). response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) TGAGAAGGCAGATGGTGCTGA 0.428000 24 131 0 0 1 0 0