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 CGNL1 84952 broad.mit.edu 37 15 57809044 57809044 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:57809044G>A ENST00000281282.5 + 9 2548 c.2470G>A c.(2470-2472)Gtg>Atg p.V824M NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 824 myosin complex|tight junction motor activity p.V824M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGAAATGCGCGTGAAGCTTCT 0.522000 9 41 0 0 0.008291 0 0 CAMTA1 23261 broad.mit.edu 37 1 7792506 7792506 + Splice_Site SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:7792506A>G ENST00000303635.7 + 12 3121 c.e12-1 CAMTA1_ENST00000439411.2_Splice_Site NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.?(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCTCTGCCCTAGATAACCAGT 0.582000 T WWTR1 epitheliod hemangioendothelioma 8 23 0 0 0.006214 0 0 PLBD2 196463 broad.mit.edu 37 12 113824835 113824835 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:113824835G>C ENST00000280800.3 + 10 1411 c.1380G>C c.(1378-1380)caG>caC p.Q460H PLBD2_ENST00000545182.2_Missense_Mutation_p.Q428H NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 460 lipid catabolic process lysosomal lumen hydrolase activity p.Q460H(1) breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CCCGGGCCCAGATCTTCCGGC 0.617000 67 58 0 0 0.014410 0 0 MYH2 4620 broad.mit.edu 37 17 10431163 10431163 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:10431163A>G ENST00000245503.5 - 28 4157 c.3773T>C c.(3772-3774)cTa>cCa p.L1258P CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1258P NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1258 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1258P(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTGGTCCTCTAGAGTCCGGCA 0.453000 35 97 0 0 0.007835 0 0 MAOA 4128 broad.mit.edu 37 X 43603416 43603416 + Nonsense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:43603416A>T ENST00000338702.3 + 14 1558 c.1435A>T c.(1435-1437)Aag>Tag p.K479* MAOA_ENST00000542639.1_Nonsense_Mutation_p.K346* NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 479 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding p.K479*(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) ACCTGAATCAAAGGTAAGTTT 0.413000 19 71 0 0 0.008871 0 0 ZNF808 388558 broad.mit.edu 37 19 53057530 53057530 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:53057530C>T ENST00000359798.4 + 5 1541 c.1361C>T c.(1360-1362)cCa>cTa p.P454L NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P454L(1) endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GGAGAGAAACCATACAAATGT 0.378000 28 29 0 0 0.010818 0 0 MCU 90550 broad.mit.edu 37 10 74631166 74631166 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:74631166A>G ENST00000536019.1 + 6 987 c.542A>G c.(541-543)aAg>aGg p.K181R MCU_ENST00000373053.3_Missense_Mutation_p.K230R|MCU_ENST00000357157.6_Missense_Mutation_p.K209R|MCU_ENST00000605416.1_3'UTR NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 230 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding p.K230R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AAAGCTGAGAAGAGGACCACT 0.443000 67 231 0 0 0.014410 0 0 LDHD 197257 broad.mit.edu 37 16 75147476 75147476 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:75147476T>C ENST00000300051.4 - 8 1158 c.1112A>G c.(1111-1113)cAc>cGc p.H371R LDHD_ENST00000450168.2_Missense_Mutation_p.H348R NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 371 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding p.H371R(1) endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 CCAGGCATTGTGCCGTGCTGT 0.652000 10 27 0 0 0.003163 0 0 ESPNL 339768 broad.mit.edu 37 2 239039107 239039107 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:239039107C>A ENST00000343063.3 + 9 2015 c.1752C>A c.(1750-1752)ccC>ccA p.P584P ESPNL_ENST00000409506.1_Silent_p.P216P|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Silent_p.P540P NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 584 p.P584P(1) endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGGTGGCCCCCGGGGTGCAGC 0.697000 4 5 0.00024832 0.000279497 0.009096 1 0 CACNA1E 777 broad.mit.edu 37 1 181706767 181706767 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:181706767C>A ENST00000526775.1 + 22 3637 c.3472C>A c.(3472-3474)Ctg>Atg p.L1158M CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1177M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1177M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1128M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L784M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1109M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1158M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1177 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.L1177K(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGACCCCGTCCTGACCAACTC 0.612000 77 106 3.89792e-41 7.19076e-41 0.014410 1 0 POLR3B 55703 broad.mit.edu 37 12 106831485 106831485 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:106831485G>A ENST00000228347.4 + 18 2105 c.1883G>A c.(1882-1884)aGt>aAt p.S628N POLR3B_ENST00000539066.1_Missense_Mutation_p.S570N NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 628 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.S628N(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTACATGAGAGTCTGGTTGAA 0.299000 5 45 0 0 0.000602 0 0 ACAT2 39 broad.mit.edu 37 6 160199279 160199279 + Silent SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:160199279A>G ENST00000367048.4 + 8 2750 c.990A>G c.(988-990)gcA>gcG p.A330A ACAT2_ENST00000541436.1_Silent_p.A359A|ACAT2_ENST00000472052.1_3'UTR NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 330 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding p.A330A(1) breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCTCTGCTGCAATAGTTAAAG 0.373000 29 32 0 0 0.012213 0 0 OR4K17 390436 broad.mit.edu 37 14 20586106 20586106 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:20586106C>A ENST00000315543.4 + 1 541 c.541C>A c.(541-543)Ctc>Atc p.L181I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W180_L181>*(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GACCTCATGGCTCTTGGGTCT 0.453000 17 91 0.00498961 0.00539046 0.004990 1 0 MOGAT1 116255 broad.mit.edu 37 2 223574470 223574470 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:223574470C>G ENST00000446656.3 + 6 869 c.869C>G c.(868-870)cCt>cGt p.P290R NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 290 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity p.P290R(1)|p.P289R(1) breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) CGCCCGATCCCTGTTCGTCAG 0.498000 34 174 0 0 0.007835 0 0 IL2RG 3561 broad.mit.edu 37 X 70331295 70331295 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:70331295C>A ENST00000456850.2 - 1 3 c.4G>T c.(4-6)Gga>Tga p.G2* IL2RG_ENST00000374202.2_Missense_Mutation_p.G32V P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 0 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding p.G32V(2) breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GTCTTCATTCCCATTGGGCGT 0.577000 Severe Combined Immunodeficiency, X-linked 13 61 7.93312e-07 9.51602e-07 0.002450 1 0 C4orf17 84103 broad.mit.edu 37 4 100443752 100443752 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:100443752A>T ENST00000514652.1 + 3 577 c.223A>T c.(223-225)Agg>Tgg p.R75W C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Missense_Mutation_p.R75W Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 75 p.R75W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AGAGAAGAACAGGATACCATT 0.488000 16 94 0 0 0.007413 0 0 ZNF518A 9849 broad.mit.edu 37 10 97920261 97920261 + RNA SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:97920261C>T ENST00000534948.1 + 0 5037 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTGTTATAACCCTCCTAAAAC 0.289000 10 44 0 0 0.006214 0 0 RIT1 6016 broad.mit.edu 37 1 155874530 155874530 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:155874530C>A ENST00000368323.3 - 4 433 c.229G>T c.(229-231)Gct>Tct p.A77S RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.A94S|RIT1_ENST00000539040.1_Missense_Mutation_p.A41S NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 77 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.A77S(1) breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) ACCTGTCCAGCTGTATCCAAA 0.408000 42 43 7.47603e-22 1.22444e-21 0.014410 1 0 PNMA3 29944 broad.mit.edu 37 X 152226624 152226624 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:152226624C>A ENST00000447306.1 + 2 1548 c.1212C>A c.(1210-1212)ggC>ggA p.G404G PNMA3_ENST00000370265.4_Silent_p.G404G|PNMA3_ENST00000370264.4_Silent_p.G404G NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 404 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding p.G404G(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) GCTCTCGAGGCTCAAGAAAAC 0.592000 24 132 7.33532e-06 8.55787e-06 0.003954 1 0 CCDC178 374864 broad.mit.edu 37 18 30926363 30926363 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:30926363G>A ENST00000383096.3 - 9 652 c.470C>T c.(469-471)cCa>cTa p.P157L CCDC178_ENST00000583930.1_Missense_Mutation_p.P157L|CCDC178_ENST00000300227.8_Missense_Mutation_p.P157L|CCDC178_ENST00000579947.1_Missense_Mutation_p.P157L|CCDC178_ENST00000406524.2_Missense_Mutation_p.P157L|CCDC178_ENST00000402325.1_Missense_Mutation_p.P157L|CCDC178_ENST00000403303.1_Missense_Mutation_p.P157L|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 p.P157L(2) CTTTAACTCTGGACACTTTTC 0.358000 11 46 0 0 0.010729 0 0 ZNF644 84146 broad.mit.edu 37 1 91382454 91382454 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:91382454C>A ENST00000370440.1 - 6 4102 c.3885G>T c.(3883-3885)cgG>cgT p.R1295R ZNF644_ENST00000361321.5_Silent_p.R73R|ZNF644_ENST00000337393.5_Silent_p.R1295R|ZNF644_ENST00000347275.5_Silent_p.R73R|ZNF644_ENST00000467231.1_5'UTR Q9H582 ZN644_HUMAN zinc finger protein 644 1295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1295R(1) breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CAGCTCCAGTCCGTGGAAGAT 0.448000 14 58 3.27435e-08 4.01246e-08 0.002450 1 0 PRKCE 5581 broad.mit.edu 37 2 46211804 46211804 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:46211804G>C ENST00000306156.3 + 6 1135 c.808G>C c.(808-810)Ggt>Cgt p.G270R NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 270 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity p.G270R(1) MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CTTGCGGCAGGGTTTGCAGTG 0.562000 35 196 0 0 0.014410 0 0 FSHR 2492 broad.mit.edu 37 2 49216144 49216144 + Missense_Mutation SNP C C A rs142383710 byFrequency TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:49216144C>A ENST00000406846.2 - 6 615 c.496G>T c.(496-498)Gtg>Ttg p.V166L FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.V166L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 166 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.V166L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CTCAGCCCCACGAAAGAATTT 0.338000 Gonadal Dysgenesis, 46 XX 6 28 5.18039e-06 6.08547e-06 0.003080 1 0 USP28 57646 broad.mit.edu 37 11 113700007 113700007 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:113700007C>T ENST00000003302.4 - 10 1039 c.971G>A c.(970-972)cGc>cAc p.R324H USP28_ENST00000545540.1_Missense_Mutation_p.R199H|USP28_ENST00000537706.1_Missense_Mutation_p.R324H|USP28_ENST00000260188.5_Missense_Mutation_p.R324H|USP28_ENST00000544967.1_Missense_Mutation_p.R32H NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 324 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R324H(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GTCTAAGTTGCGATAACCGTT 0.458000 4 95 0 0 0.000602 0 0 WISP1 8840 broad.mit.edu 37 8 134239843 134239843 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:134239843C>A ENST00000250160.6 + 5 1100 c.994C>A c.(994-996)Cgc>Agc p.R332S WISP1_ENST00000519433.1_Missense_Mutation_p.R87S|WISP1_ENST00000220856.6_Missense_Mutation_p.R245S|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Missense_Mutation_p.R160S NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 332 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding p.R332S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGGCTTCTCCCGCCAGGTCCT 0.488000 38 69 2.00842e-17 3.13854e-17 0.010771 1 0 MALAT1 378938 broad.mit.edu 37 11 65271640 65271640 + RNA SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:65271640G>C ENST00000534336.1 + 0 6408 NR_002819.2 TCAGGATTTTGAATTGCATAT 0.408000 8 28 0 0 0.004482 0 0 KEAP1 9817 broad.mit.edu 37 19 10597396 10597396 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:10597396C>A ENST00000171111.5 - 6 2354 c.1807G>T c.(1807-1809)Ggg>Tgg p.G603W KEAP1_ENST00000393623.2_Missense_Mutation_p.G603W NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.G603W(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACGCCCACCCCACTCCGGCCC 0.557000 53 97 4.09106e-26 7.11066e-26 0.014410 1 0 COBL 23242 broad.mit.edu 37 7 51258590 51258590 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:51258590G>A ENST00000395542.2 - 4 826 c.642C>T c.(640-642)aaC>aaT p.N214N COBL_ENST00000265136.7_Silent_p.N214N|COBL_ENST00000395540.2_Silent_p.N214N|COBL_ENST00000441453.1_Silent_p.N214N O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 214 p.N214N(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TCCCGAGCTCGTTCAGGGACT 0.592000 8 26 0 0 0.004482 0 0 TRIM42 287015 broad.mit.edu 37 3 140406710 140406710 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:140406710G>A ENST00000286349.3 + 3 1377 c.1186G>A c.(1186-1188)Gag>Aag p.E396K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 396 intracellular zinc ion binding p.E396K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GATCATCATGGAGCAGATAGA 0.413000 14 122 0 0 0.004007 0 0 MMP2 4313 broad.mit.edu 37 16 55523689 55523689 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:55523689C>A ENST00000219070.4 + 7 1642 c.1133C>A c.(1132-1134)aCa>aAa p.T378K MMP2_ENST00000570308.1_Missense_Mutation_p.T302K|MMP2_ENST00000543485.1_Missense_Mutation_p.T302K|MMP2_ENST00000437642.2_Missense_Mutation_p.T328K NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 378 Collagen-binding.|Fibronectin type-II 3. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.T378K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGTGCGACCACAGCCAACTAC 0.587000 27 64 6.38683e-12 8.74979e-12 0.008361 1 0 FAT3 120114 broad.mit.edu 37 11 92507263 92507263 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:92507263G>T ENST00000298047.6 + 6 4269 c.4252G>T c.(4252-4254)Gca>Tca p.A1418S FAT3_ENST00000525166.1_Missense_Mutation_p.A1268S|FAT3_ENST00000409404.2_Missense_Mutation_p.A1418S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1418 Cadherin 13. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.A1418S(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATTGTCATCGCAAAACCTTT 0.413000 TCGA Ovarian(4;0.039) 34 66 3.93418e-24 6.61305e-24 0.004289 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68219064 68219064 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:68219064G>A ENST00000347230.4 - 40 7506 c.7368C>T c.(7366-7368)ccC>ccT p.P2456P ZFYVE26_ENST00000557306.1_Silent_p.P302P NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2456 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.P2456P(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGTGTACCTGGGGCGGAATTC 0.502000 7 22 0 0 0.003080 0 0 KRT2 3849 broad.mit.edu 37 12 53040627 53040627 + Silent SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:53040627A>G ENST00000309680.3 - 7 1387 c.1366T>C c.(1366-1368)Ttg>Ctg p.L456L NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 456 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton p.L456L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) AGCCGCGCCAAGTCCTCCTTG 0.617000 18 122 0 0 0.003954 0 0 GPC6 10082 broad.mit.edu 37 13 93879811 93879811 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:93879811C>T ENST00000377047.4 + 1 717 c.102C>T c.(100-102)cgC>cgT p.R34R NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 34 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.R34R(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAGAGGTCCGCCAGGCGTACG 0.687000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 25 0 0 0.012319 0 0 KLK2 3817 broad.mit.edu 37 19 51379851 51379851 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:51379851C>A ENST00000325321.3 + 3 555 c.330C>A c.(328-330)agC>agA p.S110R KLK2_ENST00000391810.2_Missense_Mutation_p.S8R|KLK2_ENST00000358049.4_Missense_Mutation_p.S110R P20151 KLK2_HUMAN kallikrein-related peptidase 2 110 Peptidase S1. proteolysis serine-type endopeptidase activity p.S110R(2) KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) AGCATCAAAGCCTTAGACCAG 0.567000 T ETV4 prostate 16 23 5.3912e-06 6.31859e-06 0.006122 1 0 FANCG 2189 broad.mit.edu 37 9 35075050 35075050 + Nonsense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:35075050T>A ENST00000378643.3 - 12 2001 c.1510A>T c.(1510-1512)Aag>Tag p.K504* FANCG_ENST00000476212.1_Intron NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 504 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding p.K504*(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCATCTGACTTACATCCCTGC 0.557000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 29 63 0 0 0.010818 0 0 KCNB1 3745 broad.mit.edu 37 20 47991437 47991437 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:47991437G>T ENST00000371741.4 - 2 826 c.660C>A c.(658-660)ttC>ttA p.F220L NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 220 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.F220L(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGGACTGGCCGAACTCATCGA 0.577000 30 53 3.11337e-16 4.74906e-16 0.013726 1 0 GPC2 221914 broad.mit.edu 37 7 99771579 99771579 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:99771579G>A ENST00000292377.2 - 5 938 c.771C>T c.(769-771)ctC>ctT p.L257L GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 257 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.L257L(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACAGCCGATGAGACGCATCA 0.657000 35 160 0 0 0.014410 0 0 CALML3 810 broad.mit.edu 37 10 5567052 5567052 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:5567052G>A ENST00000315238.1 + 1 129 c.4G>A c.(4-6)Gcc>Acc p.A2T CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 2 calcium ion binding p.A2T(1) endometrium(3)|lung(2) 5 CCCTGGCATGGCCGACCAGCT 0.667000 3 17 0 0 0.001168 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217733 119217733 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:119217733G>A ENST00000494664.1 + 1 355 c.153G>A c.(151-153)ccG>ccA p.P51P TIMMDC1_ENST00000493694.1_Silent_p.P51P NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 51 integral to membrane|mitochondrial inner membrane protein transporter activity p.P51P(1) autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 CCTATTACCCGGAATCTGGAT 0.592000 80 185 0 0 0.014410 0 0 PLOD1 5351 broad.mit.edu 37 1 12009871 12009871 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:12009871G>T ENST00000196061.4 + 3 237 c.210G>T c.(208-210)acG>acT p.T70T PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.T117T NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 70 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity p.T70T(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) AGAAGGGGACGTCGGCAGGTG 0.557000 33 105 1.05386e-31 1.88294e-31 0.014410 1 0 NCAM1 4684 broad.mit.edu 37 11 113102506 113102506 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:113102506T>A ENST00000316851.7 + 9 1199 c.1199T>A c.(1198-1200)cTt>cAt p.L400H NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.L409H|NCAM1_ENST00000533760.1_Missense_Mutation_p.L282H NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 410 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.L409H(2)|p.L400H(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCCATGTACCTTGAAGTGCAA 0.557000 37 111 0 0 0.011902 0 0 TSNAX-DISC1 100303453 broad.mit.edu 37 1 231672975 231672975 + Silent SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:231672975T>G ENST00000602962.1 + 3 296 c.138T>G c.(136-138)ctT>ctG p.L46L TSNAX_ENST00000602825.1_3'UTR|TSNAX_ENST00000366639.4_Silent_p.L46L p.L46L(1) AGCAGGAACTTGATGCAAGGC 0.338000 3 127 0 0 0.004672 0 0 MTM1 4534 broad.mit.edu 37 X 149787523 149787523 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:149787523C>A ENST00000370396.2 + 6 409 c.355C>A c.(355-357)Ctg>Atg p.L119M MTM1_ENST00000306167.7_Intron|MTM1_ENST00000413012.2_Missense_Mutation_p.L82M|MTM1_ENST00000542741.1_Missense_Mutation_p.L24M|MTM1_ENST00000543350.1_Missense_Mutation_p.L4M NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 119 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity p.L119M(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CATGAGAAACCTGAGGTTCGC 0.443000 24 87 1.10513e-12 1.55144e-12 0.014323 1 0 MTUS2 23281 broad.mit.edu 37 13 29599385 29599385 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:29599385G>T ENST00000431530.3 + 1 638 c.580G>T c.(580-582)Gta>Tta p.V194L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 184 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.V194L(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAGCAGCTCTGTAGCTGCAGT 0.577000 19 43 1.33834e-09 1.70122e-09 0.007413 1 0 FAT2 2196 broad.mit.edu 37 5 150921910 150921910 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:150921910C>A ENST00000261800.5 - 9 8790 c.8778G>T c.(8776-8778)gcG>gcT p.A2926A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2926 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.A2926A(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTTTAGAGTCGCCACCAGTT 0.502000 28 209 3.73148e-12 5.16744e-12 0.007291 1 0 TMEM132D 121256 broad.mit.edu 37 12 129822193 129822193 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:129822193C>A ENST00000422113.2 - 4 1611 c.1285G>T c.(1285-1287)Gtg>Ttg p.V429L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 429 integral to membrane p.V429L(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCCAGCGGCACAACTCCAATC 0.617000 125 93 2.31934e-59 4.35729e-59 0.014410 1 0 SCN8A 6334 broad.mit.edu 37 12 52200170 52200170 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:52200170G>A ENST00000354534.5 + 27 5078 c.4900G>A c.(4900-4902)Gcc>Acc p.A1634T SCN8A_ENST00000545061.1_Missense_Mutation_p.A1593T NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1634 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity p.A1634T(2) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GATCAAAGGCGCCAAAGGGAT 0.493000 32 238 0 0 0.010818 0 0 FAM83C 128876 broad.mit.edu 37 20 33875579 33875579 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:33875579C>A ENST00000374408.3 - 4 1099 c.1003G>T c.(1003-1005)Gtc>Ttc p.V335F NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 335 p.V335I(1)|p.V335F(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGGCTTGGGACATCAGGCCTG 0.667000 12 25 6.40141e-05 7.31794e-05 0.010729 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299020 125299020 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:125299020G>T ENST00000538699.1 - 2 968 c.888C>A c.(886-888)tcC>tcA p.S296S DCAF12L2_ENST00000360028.2_Silent_p.S296S NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 296 p.S296S(3) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 ACAGGAGCCTGGATAGTGTGC 0.607000 38 201 1.15505e-17 1.8217e-17 0.009718 1 0 CES5A 221223 broad.mit.edu 37 16 55893498 55893498 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:55893498G>A ENST00000521992.1 - 9 1249 c.1104C>T c.(1102-1104)atC>atT p.I368I CES5A_ENST00000520435.1_Silent_p.I309I|CES5A_ENST00000319165.9_Silent_p.I339I|CES5A_ENST00000290567.9_Silent_p.I339I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.I233I NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 339 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.I339I(1)|p.I368I(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TATTGACTCCGATGATGGAAG 0.448000 10 45 0 0 0.013537 0 0 EPSTI1 94240 broad.mit.edu 37 13 43474465 43474465 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:43474465G>T ENST00000313640.7 - 10 893 c.829C>A c.(829-831)Cac>Aac p.H277N EPSTI1_ENST00000313624.7_Missense_Mutation_p.H266N|EPSTI1_ENST00000398762.3_Missense_Mutation_p.H277N NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 277 p.H277N(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) TCAGTCTGGTGGATTTTGGCT 0.353000 18 64 1.2644e-06 1.50977e-06 0.010504 1 0 TMEM204 79652 broad.mit.edu 37 16 1604883 1604883 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:1604883C>A ENST00000566264.1 + 3 1240 c.537C>A c.(535-537)gcC>gcA p.A179A IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Silent_p.A179A|IFT140_ENST00000426508.2_Intron NM_024600.5 NP_078876.2 Q9BSN7 TM204_HUMAN transmembrane protein 204 179 response to stress adherens junction|integral to membrane p.A179A(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Hepatocellular(780;0.219) GCCTTCTGGCCACGCTGGCGG 0.592000 16 37 6.49762e-13 9.22301e-13 0.006122 1 0 SETD2 29072 broad.mit.edu 37 3 47158149 47158149 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:47158149C>A ENST00000409792.3 - 4 4592 c.4550G>T c.(4549-4551)gGg>gTg p.G1517V NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1517 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.G1014V(1)|p.G1517V(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACAATCTTCCCCACATGCTAT 0.338000 """N, F, S, Mis""" clear cell renal carcinoma 37 52 4.14481e-20 6.66037e-20 0.006230 1 0 PRIMA1 145270 broad.mit.edu 37 14 94203694 94203694 + Silent SNP G G T rs140716518 byFrequency TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:94203694G>T ENST00000393140.1 - 4 354 c.252C>A c.(250-252)ccC>ccA p.P84P PRIMA1_ENST00000316227.3_Silent_p.P84P|PRIMA1_ENST00000393143.1_Silent_p.P84P NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 84 neurotransmitter catabolic process cell junction|integral to membrane|synapse p.P84P(1) endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) TTTCCTCAGTGGGGCAAGAGG 0.547000 11 40 4.36969e-10 5.61033e-10 0.001855 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136961 40136961 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:40136961C>A ENST00000278198.2 - 2 2845 c.882G>T c.(880-882)gaG>gaT p.E294D LRRC4C_ENST00000527150.1_Missense_Mutation_p.E294D|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E294D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E294D Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 294 regulation of axonogenesis integral to membrane protein binding p.E294D(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AATGTATCCGCTCTAGATGAT 0.463000 30 185 2.47316e-13 3.54995e-13 0.003271 1 0 KCNA10 3744 broad.mit.edu 37 1 111060137 111060137 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:111060137C>T ENST00000369771.2 - 1 1660 c.1273G>A c.(1273-1275)Ggg>Agg p.G425R NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 425 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.G425R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CACATGTCCCCATAGCCTACA 0.567000 11 35 0 0 0.010729 0 0 ANK2 287 broad.mit.edu 37 4 114290956 114290956 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:114290956G>A ENST00000357077.4 + 43 11658 c.11605G>A c.(11605-11607)Gaa>Aaa p.E3869K ANK2_ENST00000264366.6_Missense_Mutation_p.E3836K|ANK2_ENST00000510275.2_Missense_Mutation_p.E436K|ANK2_ENST00000509550.1_Missense_Mutation_p.E960K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1784K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1775K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3836 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.E3869K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGCAGCTTTTGAAAAGGTAAG 0.448000 22 42 0 0 0.003954 0 0 NPTX1 4884 broad.mit.edu 37 17 78444626 78444626 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:78444626C>A ENST00000306773.4 - 5 1443 c.1286G>T c.(1285-1287)cGc>cTc p.R429L NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 429 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding p.R429L(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GTTGATCTGGCGACAGGCCTC 0.622000 25 33 1.88708e-17 2.95798e-17 0.008361 1 0 RBM12 10137 broad.mit.edu 37 20 34240590 34240590 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:34240590T>A ENST00000374114.3 - 3 2918 c.2655A>T c.(2653-2655)tcA>tcT p.S885S CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.S885S|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Silent_p.S885S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 885 RRM 3. nucleus nucleotide binding|protein binding|RNA binding p.S885S(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTAAACACACTGAGCCTGGGA 0.413000 54 97 0 0 0.014410 0 0 NMUR2 56923 broad.mit.edu 37 5 151771875 151771875 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:151771875G>T ENST00000255262.3 - 4 1290 c.1125C>A c.(1123-1125)acC>acA p.T375T NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 375 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.T375T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CTATATCTTCGGTCAGCTCCA 0.502000 42 72 1.22674e-20 1.99005e-20 0.008740 1 0 ACSM2B 348158 broad.mit.edu 37 16 20551983 20551983 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:20551983G>C ENST00000329697.6 - 13 1790 c.1622C>G c.(1621-1623)cCa>cGa p.P541R ACSM2B_ENST00000567001.1_Missense_Mutation_p.P541R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P541R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P462R NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 541 Coenzyme A binding (By similarity). fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.P541Q(1)|p.P541R(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TACCTTTCTTGGGTACTTGTA 0.468000 24 141 0 0 0.004656 0 0 EPHB1 2047 broad.mit.edu 37 3 134911494 134911494 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:134911494G>T ENST00000398015.3 + 11 2329 c.1959G>T c.(1957-1959)ctG>ctT p.L653L EPHB1_ENST00000493838.1_Silent_p.L214L NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 653 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.L653L(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TCAAGACCCTGAAGGCAGGGT 0.537000 15 29 5.35267e-07 6.45097e-07 0.007413 1 0 NAV3 89795 broad.mit.edu 37 12 78513629 78513629 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:78513629C>A ENST00000397909.2 + 15 3826 c.3653C>A c.(3652-3654)cCc>cAc p.P1218H NAV3_ENST00000536525.2_Missense_Mutation_p.P1218H|NAV3_ENST00000228327.6_Missense_Mutation_p.P1218H|NAV3_ENST00000266692.7_Missense_Mutation_p.P1218H Q8IVL0 NAV3_HUMAN neuron navigator 3 1218 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.P1218H(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAGGTTCCCCCAAATCCAGC 0.522000 HNSCC(70;0.22) 51 47 2.76378e-25 4.7552e-25 0.014410 1 0 SLC9A2 6549 broad.mit.edu 37 2 103274403 103274403 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:103274403G>T ENST00000233969.2 + 2 812 c.670G>T c.(670-672)Gct>Tct p.A224S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 224 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.A224S(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GGCTGTGCTTGCTGTCTTTGA 0.498000 61 148 9.40535e-28 1.64594e-27 0.014410 1 0 FRMPD1 22844 broad.mit.edu 37 9 37746564 37746564 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:37746564G>T ENST00000539465.1 + 16 5128 c.4535G>T c.(4534-4536)cGc>cTc p.R1512L FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1512L|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1512 cytoskeleton|cytosol|plasma membrane p.R1512L(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GACTGTAGCCGCTGCTCCGCC 0.617000 37 28 4.92203e-23 8.13966e-23 0.006230 1 0 SOGA2 23255 broad.mit.edu 37 18 8783766 8783766 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:8783766A>G ENST00000359865.3 + 6 798 c.656A>G c.(655-657)aAc>aGc p.N219S SOGA2_ENST00000400050.3_Missense_Mutation_p.N219S|SOGA2_ENST00000517570.1_Missense_Mutation_p.N219S|SOGA2_ENST00000306329.11_Missense_Mutation_p.N579S|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 570 p.N219S(1) GAGGAAGCCAACATCTTGGGC 0.682000 7 14 0 0 0.004482 0 0 PHACTR3 116154 broad.mit.edu 37 20 58348440 58348440 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:58348440G>T ENST00000371015.1 + 6 1325 c.858G>T c.(856-858)cgG>cgT p.R286R PHACTR3_ENST00000395636.2_Silent_p.R245R|PHACTR3_ENST00000395639.4_Silent_p.R175R|PHACTR3_ENST00000359926.3_Silent_p.R283R|PHACTR3_ENST00000355648.4_Silent_p.R245R|PHACTR3_ENST00000541461.1_Silent_p.R245R|PHACTR3_ENST00000361300.4_Silent_p.R175R NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 286 nuclear matrix actin binding|protein phosphatase inhibitor activity p.R286R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CGGTCCACCGGCCTCTTCCCC 0.672000 13 32 2.23348e-06 2.64192e-06 0.004007 1 0 KDR 3791 broad.mit.edu 37 4 55972900 55972900 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:55972900A>G ENST00000263923.4 - 11 1785 c.1490T>C c.(1489-1491)aTt>aCt p.I497T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 497 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.I497T(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ATTAACTTCAATTTTATTTCC 0.358000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 53 0 0 0.003163 0 0 DSC1 1823 broad.mit.edu 37 18 28736036 28736036 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:28736036C>A ENST00000257197.3 - 4 702 c.441G>T c.(439-441)tcG>tcT p.S147S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S147S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 147 Cadherin 1. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.S147S(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATGGACCCAACGAGTTCTCCA 0.398000 16 44 1.02788e-11 1.38955e-11 0.004990 1 0 NIPBL 25836 broad.mit.edu 37 5 37049380 37049380 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:37049380C>G ENST00000282516.8 + 40 7430 c.6931C>G c.(6931-6933)Caa>Gaa p.Q2311E NIPBL_ENST00000448238.2_Missense_Mutation_p.Q2311E NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2311 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.Q2311E(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GACTCTAAATCAAGGTCTTAT 0.383000 5 250 0 0 0.001168 0 0 TRIP12 9320 broad.mit.edu 37 2 230655921 230655921 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:230655921C>T ENST00000283943.5 - 29 4415 c.4237G>A c.(4237-4239)Ggt>Agt p.G1413S TRIP12_ENST00000389045.3_Missense_Mutation_p.G1143S|TRIP12_ENST00000389044.4_Missense_Mutation_p.G1461S NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1413 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.G1413S(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTTTTACCACCAACACAATCT 0.363000 20 83 0 0 0.007413 0 0 COL11A1 1301 broad.mit.edu 37 1 103544276 103544276 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:103544276G>T ENST00000358392.2 - 3 743 c.426C>A c.(424-426)caC>caA p.H142Q COL11A1_ENST00000353414.4_Missense_Mutation_p.H142Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.H142Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.H142Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 142 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.H142Q(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTTTTCCAGTGTGGTCTTCAA 0.388000 10 36 2.27111e-07 2.75662e-07 0.013537 1 0 NUP160 23279 broad.mit.edu 37 11 47808067 47808067 + Silent SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:47808067T>C ENST00000378460.2 - 32 3832 c.3786A>G c.(3784-3786)gcA>gcG p.A1262A NUP160_ENST00000530326.1_Silent_p.A1148A NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1262 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.A1262A(1) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CCCAGGCTTCTGCTTGTGCTG 0.463000 36 32 0 0 0.009718 0 0 TUBA4B 80086 broad.mit.edu 37 2 220136344 220136344 + RNA SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:220136344C>A ENST00000490341.1 + 0 814 NR_003063.1 GTCATCTCTGCAGAAAAGGTA 0.562000 10 70 0.000673444 0.000740064 0.008291 1 0 AKAP6 9472 broad.mit.edu 37 14 33293096 33293096 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:33293096G>T ENST00000280979.4 + 13 6247 c.6077G>T c.(6076-6078)gGa>gTa p.G2026V AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2026 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.G2026V(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAACAAAACGGAACAGAGGAA 0.413000 27 58 8.24728e-16 1.25055e-15 0.004656 1 0 IARS 3376 broad.mit.edu 37 9 95015708 95015708 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:95015708C>T ENST00000375643.3 - 21 2431 c.2165G>A c.(2164-2166)cGc>cAc p.R722H IARS_ENST00000443024.2_Missense_Mutation_p.R722H|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.R612H NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 722 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding p.R722H(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CTTGACCAGGCGAGGCACCAC 0.448000 46 24 0 0 0.014410 0 0 PRDM9 56979 broad.mit.edu 37 5 23521214 23521214 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:23521214C>A ENST00000296682.3 + 6 616 c.434C>A c.(433-435)tCa>tAa p.S145* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 145 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.S145*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GCAAGTGGCTCAGAGCAGGCT 0.433000 HNSCC(3;0.000094) 18 57 2.37509e-13 3.41879e-13 0.010504 1 0 C20orf112 140688 broad.mit.edu 37 20 31062425 31062425 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:31062425T>A ENST00000359676.5 - 2 230 c.88A>T c.(88-90)Aac>Tac p.N30Y C20orf112_ENST00000375677.1_Missense_Mutation_p.N52Y|C20orf112_ENST00000475781.1_5'UTR|C20orf112_ENST00000326071.4_Missense_Mutation_p.N30Y|C20orf112_ENST00000375678.3_Missense_Mutation_p.N139Y NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 30 p.N30Y(1) endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 CTGTGGAGGTTCTGCGGGCTC 0.637000 9 38 0 0 0.010729 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702812 40702812 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:40702812C>A ENST00000356699.5 + 4 498 c.469C>A c.(469-471)Cct>Act p.P157T SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.P157T(2) TTCCCCGGATCCTCAAGCCAA 0.587000 151 289 9.53643e-70 1.81157e-69 0.014410 1 0 SP6 80320 broad.mit.edu 37 17 45924888 45924888 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:45924888C>T ENST00000536300.1 - 2 1239 c.908G>A c.(907-909)cGc>cAc p.R303H SP6_ENST00000342234.2_Missense_Mutation_p.R303H NM_001258248.1 NP_001245177.1 Q3SY56 SP6_HUMAN Sp6 transcription factor 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R303H(1) large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 CTGGAGGTGGCGCTGCAGCTC 0.652000 19 44 0 0 0.003330 0 0 ABCG2 9429 broad.mit.edu 37 4 89022469 89022469 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:89022469G>T ENST00000237612.3 - 11 1825 c.1280C>A c.(1279-1281)gCt>gAt p.A427D ABCG2_ENST00000515655.1_Missense_Mutation_p.A427D NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 427 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity p.A427D(2) breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) GAGAACCCCAGCTCTGCCATG 0.448000 5 30 0.000602214 0.00066753 0.000602 1 0 MYT1L 23040 broad.mit.edu 37 2 1926808 1926808 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:1926808G>T ENST00000399161.2 - 10 1480 c.733C>A c.(733-735)Cgg>Agg p.R245R MYT1L_ENST00000428368.2_Silent_p.R245R NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 245 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R245R(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCACTTTTCCGACCCAGGTTT 0.468000 58 110 5.47352e-35 9.91833e-35 0.014410 1 0 GABRG2 2566 broad.mit.edu 37 5 161576210 161576210 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:161576210C>A ENST00000356592.3 + 8 1479 c.1019C>A c.(1018-1020)tCt>tAt p.S340Y GABRG2_ENST00000393933.4_Missense_Mutation_p.S245Y|GABRG2_ENST00000414552.2_Missense_Mutation_p.S380Y|GABRG2_ENST00000361925.4_Missense_Mutation_p.S340Y NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 340 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.S340Y(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTCTTTGTATCTGTTTGTTTC 0.468000 23 59 3.83957e-06 4.53122e-06 0.002780 1 0 TARBP1 6894 broad.mit.edu 37 1 234599596 234599596 + Silent SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:234599596T>C ENST00000040877.1 - 6 1385 c.1386A>G c.(1384-1386)ccA>ccG p.P462P NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 462 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity p.P462P(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TTATTTCTTCTGGAAGAAGAG 0.353000 5 10 0 0 0.000602 0 0 PUM1 9698 broad.mit.edu 37 1 31478858 31478858 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:31478858T>C ENST00000373747.3 - 5 661 c.562A>G c.(562-564)Atc>Gtc p.I188V PUM1_ENST00000373741.4_Missense_Mutation_p.I224V|PUM1_ENST00000440538.2_Missense_Mutation_p.I188V|PUM1_ENST00000426105.2_Missense_Mutation_p.I188V|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000257075.5_Missense_Mutation_p.I188V NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 188 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding p.I188V(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGCACCATGATTGGCTGGGAA 0.458000 27 24 0 0 0.007291 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420277 56420277 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:56420277G>T ENST00000407595.2 + 2 1444 c.942G>T c.(940-942)ccG>ccT p.P314P RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 314 His-rich. p.P314P(1) breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGGGAGCCCGGAACACTTCC 0.642000 26 76 3.73808e-20 6.02574e-20 0.005443 1 0 KIAA1407 57577 broad.mit.edu 37 3 113723453 113723453 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:113723453A>G ENST00000545063.1 - 11 2156 c.1502T>C c.(1501-1503)gTt>gCt p.V501A KIAA1407_ENST00000295878.3_Intron Q8NCU4 K1407_HUMAN KIAA1407 0 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GAAGATAACAACCACCAAGGC 0.463000 50 118 0 0 0.014410 0 0 DDHD2 23259 broad.mit.edu 37 8 38099825 38099825 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:38099825A>G ENST00000397166.2 + 7 1295 c.770A>G c.(769-771)cAa>cGa p.Q257R DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q257R NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 257 lipid catabolic process centrosome hydrolase activity|metal ion binding p.Q257R(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) AAGAAAGCCCAAGAAAATCAG 0.373000 10 56 0 0 0.008291 0 0 OR2G2 81470 broad.mit.edu 37 1 247752058 247752058 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:247752058C>A ENST00000320065.1 + 1 397 c.397C>A c.(397-399)Ctc>Atc p.L133I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L133I(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGCCGTCCTCTCCATTACAC 0.547000 93 157 9.11594e-60 1.71891e-59 0.014410 1 0 METTL20 254013 broad.mit.edu 37 12 31814989 31814989 + Missense_Mutation SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:31814989T>G ENST00000357721.3 + 2 317 c.102T>G c.(100-102)tgT>tgG p.C34W METTL20_ENST00000395763.3_Missense_Mutation_p.C34W|METTL20_ENST00000538463.1_Missense_Mutation_p.C34W|METTL20_ENST00000412352.2_Missense_Mutation_p.C34W|METTL20_ENST00000538391.1_Missense_Mutation_p.C34W NM_001135863.1 NP_001129335.1 Q8IXQ9 MET20_HUMAN methyltransferase like 20 34 cytoplasm protein methyltransferase activity p.C34W(1) lung(2)|stomach(1) 3 GTGGCCAGTGTCCCTGGAGAG 0.537000 109 79 0 0 0.014410 0 0 RGS12 6002 broad.mit.edu 37 4 3427249 3427249 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:3427249G>T ENST00000336727.3 + 14 4197 c.3293G>T c.(3292-3294)cGg>cTg p.R1098L RGS12_ENST00000538395.1_Missense_Mutation_p.R440L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R1098L|RGS12_ENST00000344733.5_Missense_Mutation_p.R1098L|RGS12_ENST00000338806.4_Missense_Mutation_p.R450L|RGS12_ENST00000306648.7_Missense_Mutation_p.R496L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1098 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity p.R1098L(1) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GACGGACAGCGGGTTGTCTTG 0.592000 73 170 3.20846e-33 5.77298e-33 0.014410 1 0 FAM86HP 729375 broad.mit.edu 37 3 129821757 129821757 + RNA SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:129821757C>A ENST00000500074.2 - 0 389 p.L218L(1) TACAGCACGTCTACGGTGAAA 0.587000 13 32 0.000566183 0.000633084 0.004990 1 0 BOD1L1 259282 broad.mit.edu 37 4 13605199 13605199 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:13605199C>G ENST00000040738.5 - 10 3460 c.3325G>C c.(3325-3327)Ggt>Cgt p.G1109R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1109 DNA binding p.G1109R(1) GTCATATCACCACTCTTTTTT 0.428000 15 96 0 0 0.003163 0 0 CACNA1E 777 broad.mit.edu 37 1 181765861 181765861 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:181765861G>A ENST00000526775.1 + 45 6245 c.6080G>A c.(6079-6081)cGa>cAa p.R2027Q CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2046Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2089Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2040Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1653Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1978Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2070Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2089 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R2089Q(1)|p.R2046Q(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCAAAAGAGCGAAAGCATCTT 0.572000 25 16 0 0 0.006320 0 0 PKP1 5317 broad.mit.edu 37 1 201293685 201293685 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:201293685C>G ENST00000263946.3 + 11 2124 c.1873C>G c.(1873-1875)Cac>Gac p.H625D PKP1_ENST00000367324.3_Missense_Mutation_p.H604D|PKP1_ENST00000352845.3_Missense_Mutation_p.H625D NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 625 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis p.H625D(1)|p.H604D(1) NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CATGTCCCGCCACCCTCTGCT 0.582000 17 29 0 0 0.012319 0 0 PCDH11X 27328 broad.mit.edu 37 X 91137922 91137922 + Nonsense_Mutation SNP C C A rs2525214 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:91137922C>A ENST00000395337.2 + 6 3683 c.3050C>A c.(3049-3051)tCa>tAa p.S1017* PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000373097.1_Intron NM_032967.2 NP_116749.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 0 homophilic cell adhesion integral to plasma membrane calcium ion binding p.S1017*(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TCCAGGACATCAACTATTGAA 0.338000 23 43 1.50039e-11 2.01763e-11 0.012319 1 0 XRCC6 2547 broad.mit.edu 37 22 42032775 42032775 + Splice_Site SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr22:42032775G>T ENST00000359308.4 + 4 1244 c.e4+1 XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000360079.3_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site|XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000405506.1_Splice_Site P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding p.?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 CGAGATACAGGTGGGCATATT 0.463000 Non-homologous end-joining 17 70 3.51602e-12 4.88229e-12 0.008871 1 0 ANO4 121601 broad.mit.edu 37 12 101477524 101477524 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:101477524G>T ENST00000392979.3 + 15 1720 c.1359G>T c.(1357-1359)aaG>aaT p.K453N ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Missense_Mutation_p.K488N NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 488 chloride channel complex chloride channel activity p.K453N(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTTCTGGAAAGCCAGAACCTT 0.348000 HNSCC(74;0.22) 81 48 9.34078e-37 1.71696e-36 0.014410 1 0 CCNB3 85417 broad.mit.edu 37 X 50094666 50094666 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:50094666G>A ENST00000376042.1 + 13 4450 c.4152G>A c.(4150-4152)ttG>ttA p.L1384L CCNB3_ENST00000376038.1_Silent_p.L280L|CCNB3_ENST00000276014.7_Silent_p.L1384L|CCNB3_ENST00000348603.2_Silent_p.L280L Q8WWL7 CCNB3_HUMAN cyclin B3 1384 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.L1384L(2) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGGAGATTTTGAACTGTGATT 0.468000 15 40 0 0 0.006122 0 0 DDO 8528 broad.mit.edu 37 6 110714065 110714065 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:110714065C>A ENST00000368924.3 - 5 1038 c.1023G>T c.(1021-1023)gtG>gtT p.V341V DDO_ENST00000368925.1_Silent_p.V313V|DDO_ENST00000368923.3_Silent_p.V282V NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 313 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity p.V341V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) TGCCCCAGTGCACTGAGATGC 0.602000 24 37 1.77063e-15 2.66116e-15 0.005443 1 0 KDR 3791 broad.mit.edu 37 4 55981184 55981184 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:55981184G>T ENST00000263923.4 - 5 810 c.515C>A c.(514-516)cCt>cAt p.P172H NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 172 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.P172N(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTTACCATCAGGAACAAATCT 0.378000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 9 28 0.000673444 0.000740064 0.008291 1 0 AHNAK2 113146 broad.mit.edu 37 14 105420473 105420473 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:105420473T>A ENST00000333244.5 - 7 1434 c.1315A>T c.(1315-1317)Agg>Tgg p.R439W NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 439 nucleus p.R439W(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCTGGGCCCTGGGCTTCCTC 0.642000 33 58 0 0 0.003755 0 0 ANO3 63982 broad.mit.edu 37 11 26463539 26463539 + Missense_Mutation SNP G G T rs150999282 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:26463539G>T ENST00000256737.3 + 2 973 c.121G>T c.(121-123)Gcc>Tcc p.A41S ANO3_ENST00000531646.1_Missense_Mutation_p.A41S|ANO3_ENST00000537978.1_Missense_Mutation_p.A25S|ANO3_ENST00000525139.1_Missense_Mutation_p.A25S NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 41 chloride channel complex chloride channel activity p.A41S(2) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GCCTTGCCTCGCCCAGAGCTA 0.443000 97 110 2.56585e-57 4.80274e-57 0.014410 1 0 GRM5 2915 broad.mit.edu 37 11 88583213 88583213 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:88583213C>T ENST00000418177.2 - 3 1139 c.772G>A c.(772-774)Gat>Aat p.D258N GRM5_ENST00000455756.2_Missense_Mutation_p.D258N|GRM5_ENST00000305432.5_Missense_Mutation_p.D258N|GRM5_ENST00000305447.4_Missense_Mutation_p.D258N|GRM5_ENST00000393297.1_Missense_Mutation_p.D258N P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 258 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.D258N(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGCAGCTTATCAAAGCTCTGC 0.522000 25 37 0 0 0.013726 0 0 BMPER 168667 broad.mit.edu 37 7 33976923 33976923 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:33976923G>T ENST00000297161.2 + 4 616 c.242G>T c.(241-243)aGa>aTa p.R81I BMPER_ENST00000426693.1_Missense_Mutation_p.R81I NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 81 VWFC 1. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.R81I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACATGTAAGAGAGAGAAGTGC 0.478000 5 110 0.00116845 0.00127308 0.001168 1 0 POTEF 728378 broad.mit.edu 37 2 130832264 130832264 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:130832264C>T ENST00000357462.5 - 15 2874 c.2781G>A c.(2779-2781)atG>atA p.M927I POTEF_ENST00000409914.2_Missense_Mutation_p.M927I A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 927 Actin-like. cell cortex ATP binding p.M927I(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCACCGTGGCCATCTCCTGCT 0.617000 9 58 0 0 0.008291 0 0 OR51G2 81282 broad.mit.edu 37 11 4936463 4936463 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:4936463G>C ENST00000322013.3 - 1 459 c.431C>G c.(430-432)aCa>aGa p.T144R MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T144R(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCAATGACTGTGTTGGTGAG 0.493000 16 17 0 0 0.003330 0 0 TRMT13 54482 broad.mit.edu 37 1 100598771 100598771 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:100598771A>T ENST00000370141.2 + 1 53 c.47A>T c.(46-48)gAg>gTg p.E16V TRMT13_ENST00000370139.1_5'UTR|TRMT13_ENST00000370143.1_Missense_Mutation_p.E16V NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) p.E16V(1) TTTCCAGCTGAGGGTAGATGC 0.567000 14 53 0 0 0.008871 0 0 PABPC3 5042 broad.mit.edu 37 13 25670983 25670983 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:25670983C>A ENST00000281589.3 + 1 684 c.647C>A c.(646-648)cCc>cAc p.P216H NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 216 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.P216H(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAGTTCGGGCCCGCCTTAAGT 0.428000 37 92 1.31962e-36 2.41693e-36 0.008740 1 0 DOCK9 23348 broad.mit.edu 37 13 99481647 99481647 + Nonsense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:99481647T>A ENST00000376460.1 - 43 4890 c.4810A>T c.(4810-4812)Aaa>Taa p.K1604* DOCK9_ENST00000339416.2_Nonsense_Mutation_p.K1605*|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1605 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.K1605*(1)|p.K1604*(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCATAGGATTTGGCCAGGCTG 0.567000 10 12 0 0 0.008291 0 0 CYLC2 1539 broad.mit.edu 37 9 105767379 105767379 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:105767379G>T ENST00000374798.3 + 5 536 c.466G>T c.(466-468)Gat>Tat p.D156Y CYLC2_ENST00000487798.1_Missense_Mutation_p.D156Y NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 156 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.D156Y(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) agaaaagctagatgcaaagaa 0.353000 20 9 5.35267e-07 6.45097e-07 0.007413 1 0 PLA2G16 11145 broad.mit.edu 37 11 63342429 63342429 + Silent SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:63342429T>C ENST00000323646.5 - 4 831 c.477A>G c.(475-477)cgA>cgG p.R159R PLA2G16_ENST00000415826.1_Silent_p.R159R|PLA2G16_ENST00000394613.3_5'UTR NM_007069.3 NP_009000.2 P53816 PAG16_HUMAN phospholipase A2, group XVI 159 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding p.R159R(1) kidney(2)|lung(1)|ovary(1)|skin(1) 5 ATTGCTTTTGTCGCTTGTTTC 0.453000 52 82 0 0 0.014410 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655792 40655792 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:40655792C>A ENST00000406785.1 - 2 1818 c.1629G>T c.(1627-1629)gaG>gaT p.E543D SLC8A1_ENST00000542756.1_Missense_Mutation_p.E543D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E543D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E543D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E543D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E543D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E543D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E543D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E543D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E543D P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 543 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.E543D(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCACAGGTTCCTCAAAAGTAA 0.438000 21 95 2.89027e-11 3.85621e-11 0.014323 1 0 STARD13 90627 broad.mit.edu 37 13 33741717 33741717 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:33741717C>G ENST00000336934.5 - 2 328 c.212G>C c.(211-213)gGg>gCg p.G71A STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.G63A NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 71 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding p.G71A(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TTGCGGGAACCCGGCAGCACG 0.483000 15 38 0 0 0.006122 0 0 COL5A2 1290 broad.mit.edu 37 2 189923246 189923246 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:189923246C>A ENST00000374866.3 - 33 2412 c.2138G>T c.(2137-2139)cGa>cTa p.R713L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 713 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.R713L(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGGATTTCCTCGTTCTCCCTA 0.438000 9 34 6.40141e-05 7.31794e-05 0.010729 1 0 ZW10 9183 broad.mit.edu 37 11 113614613 113614613 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:113614613C>A ENST00000200135.3 - 10 1566 c.1422G>T c.(1420-1422)ttG>ttT p.L474F NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 474 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding p.L474F(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GGCATGTGGGCAAGGAAAAGG 0.403000 64 136 1.02016e-41 1.88877e-41 0.014410 1 0 MKL2 57496 broad.mit.edu 37 16 14345836 14345836 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:14345836G>T ENST00000571589.1 + 14 2693 c.2521G>T c.(2521-2523)Gct>Tct p.A841S MKL2_ENST00000574045.1_Missense_Mutation_p.A791S|MKL2_ENST00000318282.5_Missense_Mutation_p.A791S|MKL2_ENST00000341243.5_Missense_Mutation_p.A830S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 830 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity p.A791S(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATCCAGAAATGCTCCGCTTCC 0.488000 62 94 1.64573e-32 2.95077e-32 0.014410 1 0 ZNF300 91975 broad.mit.edu 37 5 150275752 150275752 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:150275752T>A ENST00000446148.2 - 7 1524 c.1097A>T c.(1096-1098)gAa>gTa p.E366V ZNF300_ENST00000274599.5_Missense_Mutation_p.E350V|ZNF300_ENST00000418587.2_Missense_Mutation_p.E314V|ZNF300_ENST00000394226.2_Missense_Mutation_p.E350V|ZNF300_ENST00000427179.1_3'UTR NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E350V(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATAGGGTTTTTCCCCAGTGTG 0.413000 11 67 0 0 0.010729 0 0 KCTD7 154881 broad.mit.edu 37 7 66274076 66274076 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:66274076C>T ENST00000380828.2 + 11 1555 c.1401C>T c.(1399-1401)atC>atT p.I467I RABGEF1_ENST00000284957.5_Silent_p.I427I|RABGEF1_ENST00000439720.2_Silent_p.I440I|KCTD7_ENST00000510829.2_Silent_p.I427I|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.I441I|KCTD7_ENST00000451741.2_Silent_p.I427I|RABGEF1_ENST00000450873.2_Silent_p.I427I Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity p.I427I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AAGAAAGGATCATGAATGAAG 0.403000 17 201 0 0 0.006122 0 0 RGL1 23179 broad.mit.edu 37 1 183876181 183876181 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:183876181A>T ENST00000304685.3 + 15 2074 c.1613A>T c.(1612-1614)gAc>gTc p.D538V RGL1_ENST00000539189.1_Missense_Mutation_p.D474V|RGL1_ENST00000536277.1_Missense_Mutation_p.D501V|RGL1_ENST00000367531.1_Missense_Mutation_p.D538V|RGL1_ENST00000360851.3_Missense_Mutation_p.D503V NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 503 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity p.D538V(1) breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GCAGCTGCTGACGCCAGCACC 0.537000 12 20 0 0 0.002450 0 0 CASP7 840 broad.mit.edu 37 10 115481472 115481472 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:115481472C>T ENST00000369321.2 + 5 729 c.409C>T c.(409-411)Ctg>Ttg p.L137L CASP7_ENST00000369315.1_Silent_p.L104L|CASP7_ENST00000345633.4_Silent_p.L104L|CASP7_ENST00000369331.4_Silent_p.L104L|CASP7_ENST00000452490.2_Silent_p.L79L|CASP7_ENST00000369318.3_Silent_p.L104L NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 104 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding p.L137L(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CTTCCGAAGCCTGGGTTTTGA 0.507000 52 133 0 0 0.014410 0 0 TBX3 6926 broad.mit.edu 37 12 115111974 115111974 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:115111974G>A ENST00000349155.2 - 6 2669 c.1706C>T c.(1705-1707)tCt>tTt p.S569F TBX3_ENST00000257566.3_Missense_Mutation_p.S589F NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 589 Transcription repression. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding p.S589F(1) breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CCATACCTGAGAGGCCAGGAC 0.642000 5 8 0 0 0.000602 0 0 USP29 57663 broad.mit.edu 37 19 57640890 57640890 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:57640890C>A ENST00000254181.4 + 4 1301 c.847C>A c.(847-849)Ctg>Atg p.L283M USP29_ENST00000598197.1_Missense_Mutation_p.L283M NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 283 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L283M(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCACAGCAACTGCAGCAGGG 0.463000 30 38 1.08312e-15 1.63267e-15 0.009535 1 0 ANKS4B 257629 broad.mit.edu 37 16 21262123 21262123 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:21262123G>T ENST00000311620.5 + 2 1309 c.1236G>T c.(1234-1236)ctG>ctT p.L412L NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 412 p.L412L(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CTGGGCAGCTGGTCGACACCA 0.567000 30 78 2.20474e-14 3.25613e-14 0.003755 1 0 GPRIN1 114787 broad.mit.edu 37 5 176026654 176026654 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:176026654G>T ENST00000303991.4 - 2 359 c.182C>A c.(181-183)cCt>cAt p.P61H NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 61 growth cone|plasma membrane p.P61H(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTTGGTCAGGGGTGTGCCT 0.672000 22 151 4.59853e-10 5.88934e-10 0.005443 1 0 NMUR2 56923 broad.mit.edu 37 5 151784290 151784290 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:151784290C>G ENST00000255262.3 - 1 550 c.385G>C c.(385-387)Gtg>Ctg p.V129L NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 129 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.V129L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GCGAAGCACACGGTCTCAAAG 0.622000 22 134 0 0 0.014323 0 0 SLC12A5 57468 broad.mit.edu 37 20 44683562 44683562 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:44683562G>A ENST00000454036.1 + 21 2832 c.2756G>A c.(2755-2757)aGc>aAc p.S919N SLC12A5_ENST00000243964.3_Missense_Mutation_p.S896N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 919 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.S896N(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAGCATGAGAGCGACATCTCA 0.557000 17 38 0 0 0.014323 0 0 SUV420H1 51111 broad.mit.edu 37 11 67941343 67941343 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:67941343C>G ENST00000304363.4 - 6 934 c.581G>C c.(580-582)gGa>gCa p.G194A SUV420H1_ENST00000402185.2_Missense_Mutation_p.G171A|SUV420H1_ENST00000401547.2_Missense_Mutation_p.G194A|SUV420H1_ENST00000405515.1_Missense_Mutation_p.G194A|SUV420H1_ENST00000402789.1_Missense_Mutation_p.G194A NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 194 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.G194A(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TATTTCAAATCCACTGTCAGT 0.308000 5 62 0 0 0.001984 0 0 ABRA 137735 broad.mit.edu 37 8 107773614 107773614 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:107773614C>G ENST00000311955.3 - 2 851 c.797G>C c.(796-798)aGt>aCt p.S266T NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 266 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding p.S266T(1) breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) AAACTCTTCACTGAAAGGATT 0.512000 14 74 0 0 0.002450 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954378 35954378 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:35954378T>C ENST00000274278.3 - 7 1855 c.1498A>G c.(1498-1500)Atg>Gtg p.M500V NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 500 integral to membrane glucuronosyltransferase activity p.M500V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAGCCACATAGTGCCCAGA 0.592000 7 31 0 0 0.004482 0 0 SASH3 54440 broad.mit.edu 37 X 128926692 128926692 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:128926692C>G ENST00000356892.3 + 6 795 c.681C>G c.(679-681)atC>atG p.I227M NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 227 SH3. p.I227M(1) breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 TCAAATTCATCTATGTGGATG 0.592000 24 110 0 0 0.014323 0 0 ASTN1 460 broad.mit.edu 37 1 176857281 176857281 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:176857281C>A ENST00000367654.2 - 18 3037 c.3024G>T c.(3022-3024)gaG>gaT p.E1008D ASTN1_ENST00000361833.2_Missense_Mutation_p.E1000D|ASTN1_ENST00000367657.3_Missense_Mutation_p.E1000D|ASTN1_ENST00000424564.2_Missense_Mutation_p.E1000D O14525 ASTN1_HUMAN astrotactin 1 1008 cell migration|neuron cell-cell adhesion integral to membrane p.E1000D(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GACACCAGTCCTCGATGACAT 0.532000 30 46 1.74807e-11 2.33839e-11 0.010818 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72434357 72434357 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:72434357C>A ENST00000373208.1 + 2 128 c.128C>A c.(127-129)cCc>cAc p.P43H ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P43H NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 43 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P43H(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GTGACAGTGCCCTGCAGCACA 0.567000 24 80 3.28513e-13 4.67604e-13 0.003954 1 0 VARS 7407 broad.mit.edu 37 6 31747922 31747922 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:31747922G>A ENST00000375663.3 - 26 3374 c.2934C>T c.(2932-2934)ggC>ggT p.G978G NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 978 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.G978G(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGCTCTCATGGCCTCCGGGCT 0.647000 51 37 0 0 0.014410 0 0 AQR 9716 broad.mit.edu 37 15 35176875 35176875 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:35176875C>A ENST00000156471.5 - 26 3103 c.2878G>T c.(2878-2880)Gat>Tat p.D960Y NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 960 catalytic step 2 spliceosome RNA binding p.D960Y(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCCGTAACATCTGGCAATGTA 0.373000 28 34 6.02846e-25 1.03028e-24 0.003271 1 0 ST18 9705 broad.mit.edu 37 8 53038615 53038615 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:53038615C>A ENST00000276480.7 - 23 3435 c.2752G>T c.(2752-2754)Ggg>Tgg p.G918W NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 918 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G918W(1)|p.G918R(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTCTTACCCCCAGTTGCTTTG 0.493000 42 70 2.38262e-10 3.09015e-10 0.010771 1 0 CSMD1 64478 broad.mit.edu 37 8 3038632 3038632 + Splice_Site SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:3038632T>G ENST00000520002.1 - 38 6283 c.5728_splice c.e38+1 p.T1910_splice CSMD1_ENST00000542608.1_Splice_Site_p.T1909_splice|CSMD1_ENST00000602723.1_Splice_Site_p.T1910_splice|CSMD1_ENST00000539096.1_Splice_Site_p.T1909_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Splice_Site_p.T1910_splice|CSMD1_ENST00000602557.1_Splice_Site_p.T1910_splice|CSMD1_ENST00000537824.1_Splice_Site_p.T1909_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1910 CUB 11. integral to membrane p.T1909P(1)|p.T1638P(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGACCTTACTTTTGTATTCC 0.378000 3 24 0 0 0.004672 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469602 120469602 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:120469602G>T ENST00000283875.5 + 2 296 c.203G>T c.(202-204)gGa>gTa p.G68V NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 68 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding p.G68V(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) AATTTAAAGGGAGACAAGTTT 0.413000 23 59 8.24728e-16 1.25055e-15 0.004656 1 0 PDK1 5163 broad.mit.edu 37 2 173429789 173429789 + Nonsense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:173429789G>T ENST00000410055.1 + 5 779 c.679G>T c.(679-681)Gaa>Taa p.E227* PDK1_ENST00000543905.1_Nonsense_Mutation_p.E151*|PDK1_ENST00000544863.1_Nonsense_Mutation_p.E72*|PDK1_ENST00000392571.2_Nonsense_Mutation_p.E247*|PDK1_ENST00000282077.2_Nonsense_Mutation_p.E227* NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 227 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.E227*(1) central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) CAATGTACTTGAAGTTATTAA 0.289000 Autosomal Dominant Polycystic Kidney Disease 19 89 1.50039e-11 2.01763e-11 0.012319 1 0 PLCD3 113026 broad.mit.edu 37 17 43194110 43194110 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:43194110G>A ENST00000322765.5 - 8 1415 c.1302C>T c.(1300-1302)tgC>tgT p.C434C PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 434 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.C434C(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GCTCCAGCCCGCAGTGGTTCT 0.647000 10 42 0 0 0.008291 0 0 STX8 9482 broad.mit.edu 37 17 9281903 9281903 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:9281903C>A ENST00000306357.3 - 7 1036 c.609G>T c.(607-609)cgG>cgT p.R203R STX8_ENST00000574431.1_Silent_p.R92R NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 203 t-SNARE coiled-coil homology. transport endoplasmic reticulum|integral to plasma membrane p.R203R(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 CCATGTTTACCCGCCTGGTTT 0.423000 61 173 3.05417e-18 4.83183e-18 0.014410 1 0 FRMPD4 9758 broad.mit.edu 37 X 12735849 12735849 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:12735849G>T ENST00000380682.1 + 16 3410 c.2904G>T c.(2902-2904)tcG>tcT p.S968S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 968 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding p.S958S(1) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CAAAGTCCTCGCACGCCCTGG 0.602000 29 65 3.93418e-24 6.61305e-24 0.004289 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996925 19996925 + Nonsense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:19996925T>A ENST00000391403.2 - 1 953 c.850A>T c.(850-852)Aag>Tag p.K284* NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 284 integral to membrane p.K284*(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATCAGTTTCTTCAAAGCTCCT 0.328000 13 59 0 0 0.013537 0 0 CCL28 56477 broad.mit.edu 37 5 43382065 43382065 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:43382065C>A ENST00000361115.4 - 3 355 c.281G>T c.(280-282)gGt>gTt p.G94V CCL28_ENST00000513525.1_Missense_Mutation_p.G47V NM_148672.2 NP_683513.1 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 94 chemotaxis|immune response extracellular space chemokine activity p.G94V(1) kidney(3)|lung(3)|ovary(1) 7 ATTTCCTTTACCATTTTTCTT 0.448000 40 152 1.57019e-19 2.49183e-19 0.007835 1 0 AGO2 27161 broad.mit.edu 37 8 141570586 141570586 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:141570586A>G ENST00000220592.5 - 5 654 c.542T>C c.(541-543)tTc>tCc p.F181S AGO2_ENST00000519980.1_Missense_Mutation_p.F181S NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 p.F181S(1) CGCGGTGAAGAAGGAGCGGCC 0.622000 9 73 0 0 0.010729 0 0 AGO2 27161 broad.mit.edu 37 8 141542158 141542158 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:141542158G>A ENST00000220592.5 - 19 2677 c.2565C>T c.(2563-2565)acC>acT p.T855T AGO2_ENST00000519980.1_Silent_p.T821T NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 p.T855T(1) CAAAGTACATGGTGCGCAGAG 0.547000 34 137 0 0 0.004878 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866229 30866229 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr22:30866229G>T ENST00000215812.4 - 3 234 c.144C>A c.(142-144)gaC>gaA p.D48E SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 48 integral to membrane|intracellular lipid binding|transporter activity p.D48E(1) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ACTTCTGCAAGTCAAAATTCC 0.537000 8 23 5.4927e-09 6.87934e-09 0.004482 1 0 NAALAD2 10003 broad.mit.edu 37 11 89883721 89883721 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:89883721C>T ENST00000534061.1 + 5 785 c.555C>T c.(553-555)aaC>aaT p.N185N NAALAD2_ENST00000375944.3_Silent_p.N185N|NAALAD2_ENST00000525171.1_Silent_p.N185N|NAALAD2_ENST00000321955.4_Silent_p.N185N NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 185 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity p.N185N(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGGGCATCAACTGTACTGGGA 0.318000 31 60 0 0 0.012213 0 0 LRIT2 340745 broad.mit.edu 37 10 85984092 85984092 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:85984092C>A ENST00000372113.4 - 2 894 c.889G>T c.(889-891)Gat>Tat p.D297Y LRIT2_ENST00000538192.1_Missense_Mutation_p.D297Y NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 297 Ig-like. integral to membrane p.D297Y(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GGCTTACCATCAAATTCTCTC 0.527000 12 27 4.3838e-07 5.30835e-07 0.001855 1 0 FBXO33 254170 broad.mit.edu 37 14 39870542 39870542 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:39870542C>G ENST00000298097.7 - 3 1571 c.1234G>C c.(1234-1236)Gat>Cat p.D412H FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 412 p.D412H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GATATAAGATCAACAATAGCC 0.348000 13 75 0 0 0.002450 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121680905 121680905 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:121680905C>A ENST00000393386.2 + 21 6084 c.5673C>A c.(5671-5673)gtC>gtA p.V1891V PTPRZ1_ENST00000449182.1_Silent_p.V1024V NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1891 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.V1891V(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GACGTGTGGTCACACAGTATC 0.517000 4 113 0.000602214 0.00066753 0.000602 1 0 DOLK 22845 broad.mit.edu 37 9 131708450 131708450 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:131708450T>C ENST00000372586.3 - 1 1448 c.1133A>G c.(1132-1134)tAc>tGc p.Y378C RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 378 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity p.Y378C(1) breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 GATGCGGAAGTAGCGCACATA 0.527000 92 66 0 0 0.014410 0 0 TRIM41 90933 broad.mit.edu 37 5 180659677 180659677 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:180659677C>T ENST00000315073.5 + 3 1638 c.928C>T c.(928-930)Ctg>Ttg p.L310L TRIM41_ENST00000351937.5_Silent_p.L310L NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 310 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.L310L(2) NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGTCAGAGCTGGCAGCGGT 0.552000 14 20 0 0 0.006122 0 0 KRTAP23-1 337963 broad.mit.edu 37 21 31720852 31720852 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:31720852A>T ENST00000334160.4 - 1 72 c.73T>A c.(73-75)Tcc>Acc p.S25T NM_181624.1 NP_853655.1 A1A580 KR231_HUMAN keratin associated protein 23-1 25 intermediate filament p.S25T(1) large_intestine(1)|lung(4)|prostate(1) 6 CCACCACGGGAGTAGCCTGAG 0.557000 28 39 0 0 0.007291 0 0 P2RY10 27334 broad.mit.edu 37 X 78216121 78216121 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:78216121C>A ENST00000171757.2 + 4 384 c.104C>A c.(103-105)tCc>tAc p.S35Y P2RY10_ENST00000544091.1_Missense_Mutation_p.S35Y|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 35 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.S35Y(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TTTCAATACTCCCTCTATGCA 0.413000 46 81 7.88023e-25 1.34227e-24 0.014410 1 0 PAPPA2 60676 broad.mit.edu 37 1 176709310 176709310 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:176709310G>T ENST00000367662.3 + 14 5293 c.4129G>T c.(4129-4131)Ggg>Tgg p.G1377W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1377 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G1377W(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGAGGACGAGGGGCAGAATCA 0.478000 7 53 0.000157383 0.000177534 0.003080 1 0 LRP1B 53353 broad.mit.edu 37 2 141208161 141208161 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:141208161C>G ENST00000389484.3 - 63 11004 c.10033G>C c.(10033-10035)Gga>Cga p.G3345R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3345 LDL-receptor class A 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3345R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCAGATCCATCACCACAG 0.348000 TSP Lung(27;0.18) 20 76 0 0 0.012319 0 0 OR4K17 390436 broad.mit.edu 37 14 20586105 20586105 + Nonsense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:20586105G>A ENST00000315543.4 + 1 540 c.540G>A c.(538-540)tgG>tgA p.W180* NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W180_L181>*(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGACCTCATGGCTCTTGGGTC 0.453000 17 91 0 0 0.004990 0 0 EDEM3 80267 broad.mit.edu 37 1 184663205 184663205 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:184663205C>A ENST00000318130.8 - 20 3057 c.2791G>T c.(2791-2793)Gag>Tag p.E931* EDEM3_ENST00000367512.3_Nonsense_Mutation_p.E904* NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 931 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding p.E888*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGTCATAGCTCATCCTTCTCC 0.368000 5 68 0.000157383 0.000177534 0.003080 1 0 CYFIP2 26999 broad.mit.edu 37 5 156747733 156747733 + Missense_Mutation SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:156747733T>G ENST00000347377.6 + 15 2025 c.1594T>G c.(1594-1596)Ttg>Gtg p.L532V CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L532V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L206V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L336V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L506V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L532V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L457V NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 532 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.L532V(3) breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGACCCATGCTTGAGAGGGGA 0.582000 12 29 0 0 0.004007 0 0 AP2M1 1173 broad.mit.edu 37 3 183896907 183896907 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:183896907G>T ENST00000382456.3 + 3 651 c.337G>T c.(337-339)Gat>Tat p.D113Y AP2M1_ENST00000439647.1_Missense_Mutation_p.D113Y|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.D138Y|AP2M1_ENST00000292807.5_Missense_Mutation_p.D113Y NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 113 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity p.D113Y(1) endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGAGCTGCTGGATGGTGAGGC 0.547000 35 86 3.38236e-24 5.72313e-24 0.006999 1 0 TAAR5 9038 broad.mit.edu 37 6 132909856 132909856 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:132909856C>G ENST00000258034.2 - 1 1021 c.970G>C c.(970-972)Gtc>Ctc p.V324L NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 324 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.V324L(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGTGAGAAGACCTTCTGGCTC 0.468000 32 44 0 0 0.010818 0 0 SPTB 6710 broad.mit.edu 37 14 65266574 65266574 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:65266574C>A ENST00000389722.3 - 8 1008 c.955G>T c.(955-957)Gag>Tag p.E319* SPTB_ENST00000389720.3_Nonsense_Mutation_p.E319*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.E319*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.E319*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.E319* NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 319 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.E319K(1)|p.E319*(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ATGGTCTGCTCGATCCAGGTG 0.537000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 99 1.57019e-19 2.49183e-19 0.007835 1 0 SORL1 6653 broad.mit.edu 37 11 121429318 121429318 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:121429318C>T ENST00000260197.7 + 20 2811 c.2682C>T c.(2680-2682)gaC>gaT p.D894D NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 894 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.D894D(1) 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) TCTGGACAGACTGGGGAGACC 0.483000 24 246 0 0 0.003954 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326347 25326347 + RNA SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:25326347A>T ENST00000546682.1 + 0 47 SNHG14_ENST00000549804.2_RNA NR_003361.1 GGGCTCCTCCAGAGGCTGTTG 0.507000 16 11 0 0 0.004007 0 0 HDAC1 3065 broad.mit.edu 37 1 32796425 32796425 + Nonsense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:32796425G>T ENST00000373548.3 + 9 979 c.895G>T c.(895-897)Gga>Tga p.G299* HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Nonsense_Mutation_p.G106* NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 299 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity p.G299*(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) GCTGATGCTGGGAGGCGGTGG 0.542000 20 59 1.64293e-13 2.39868e-13 0.003330 1 0 C1orf141 400757 broad.mit.edu 37 1 67558821 67558821 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:67558821G>C ENST00000371007.2 - 8 1179 c.1070C>G c.(1069-1071)aCg>aGg p.T357R C1orf141_ENST00000371006.1_Missense_Mutation_p.T357R|C1orf141_ENST00000544837.1_Missense_Mutation_p.T357R NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 357 p.T357R(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 GGGTATGCTCGTTGGTTTTCC 0.343000 23 91 0 0 0.003330 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28307030 28307030 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:28307030C>A ENST00000284987.5 - 4 1565 c.1444G>T c.(1444-1446)Ggc>Tgc p.G482C AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 482 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.G482C(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TCTTCGGGGCCCAGGATCTGC 0.527000 14 33 0.000151284 0.000172175 0.001855 1 0 HSPA8 3312 broad.mit.edu 37 11 122931962 122931962 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:122931962C>T ENST00000534624.1 - 2 347 c.71G>A c.(70-72)gGa>gAa p.G24E HSPA8_ENST00000526110.1_Missense_Mutation_p.G24E|HSPA8_ENST00000227378.3_Missense_Mutation_p.G24E|HSPA8_ENST00000533540.1_Missense_Mutation_p.G24E|HSPA8_ENST00000453788.2_Missense_Mutation_p.G24E|HSPA8_ENST00000532636.1_Missense_Mutation_p.G24E NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 24 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding p.G24E(1) breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCGACTTTTCCGTGCTGGAA 0.463000 9 87 0 0 0.006214 0 0 OLFM3 118427 broad.mit.edu 37 1 102269934 102269934 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:102269934G>T ENST00000370103.4 - 6 1450 c.1237C>A c.(1237-1239)Ccc>Acc p.P413T OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.P433T NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 433 Olfactomedin-like. extracellular region p.P413T(1)|p.P433T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TTATGGAAGGGAATGTCTGTG 0.448000 28 156 9.8876e-21 1.6091e-20 0.004878 1 0 BACH1 571 broad.mit.edu 37 21 30714991 30714991 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:30714991G>T ENST00000399921.1 + 5 2291 c.2048G>T c.(2047-2049)tGt>tTt p.C683F BACH1_ENST00000286800.3_Missense_Mutation_p.C683F NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 683 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.C683F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CTGCCTCCCTGTGCCAGAGGA 0.527000 15 54 1.5739e-10 2.05169e-10 0.004007 1 0 RELN 5649 broad.mit.edu 37 7 103205892 103205892 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:103205892A>C ENST00000428762.1 - 34 5202 c.5043T>G c.(5041-5043)agT>agG p.S1681R RELN_ENST00000424685.2_Missense_Mutation_p.S1681R|RELN_ENST00000343529.5_Missense_Mutation_p.S1681R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1681 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S1681R(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAGCTGTACACTGTGGGAGT 0.478000 6 59 0 0 0.001168 0 0 MYO3A 53904 broad.mit.edu 37 10 26465695 26465695 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:26465695G>A ENST00000265944.5 + 31 4525 c.4359G>A c.(4357-4359)caG>caA p.Q1453Q MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1453 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.Q1453Q(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTTTGTCACAGCAACTGAAGT 0.358000 3 67 0 0 0.004672 0 0 CACNA1E 777 broad.mit.edu 37 1 181706768 181706768 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:181706768T>A ENST00000526775.1 + 22 3638 c.3473T>A c.(3472-3474)cTg>cAg p.L1158Q CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1177Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1177Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1128Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L784Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1109Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1158Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1177 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.L1177K(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GACCCCGTCCTGACCAACTCG 0.612000 76 105 0 0 0.014410 0 0 GABRA1 2554 broad.mit.edu 37 5 161302634 161302634 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:161302634T>A ENST00000428797.2 + 7 900 c.545T>A c.(544-546)cTa>cAa p.L182Q GABRA1_ENST00000023897.6_Missense_Mutation_p.L182Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.L182Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.L182Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.L182Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.L182Q NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 182 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.L182Q(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCTTGCCCACTAAAATTTGGA 0.398000 18 93 0 0 0.007413 0 0 DOCK2 1794 broad.mit.edu 37 5 169469116 169469116 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:169469116G>A ENST00000256935.8 + 38 3936 c.3856G>A c.(3856-3858)Ggc>Agc p.G1286S DOCK2_ENST00000520908.1_Missense_Mutation_p.G778S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.G347S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1286 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.G1286S(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACCATCATAGGCTACTTTGA 0.572000 11 16 0 0 0.013537 0 0 OR2W3 343171 broad.mit.edu 37 1 248059635 248059635 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:248059635C>A ENST00000537741.1 + 3 1004 c.747C>A c.(745-747)tcC>tcA p.S249S OR2W3_ENST00000360358.3_Silent_p.S249S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S249S(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTGTGGTCTCCCTTTTCTATG 0.512000 27 169 3.73808e-20 6.02574e-20 0.005443 1 0 ZNF516 9658 broad.mit.edu 37 18 74091436 74091436 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:74091436C>A ENST00000443185.2 - 4 2951 c.2634G>T c.(2632-2634)tgG>tgT p.W878C ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 878 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W878C(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGCCGGGCGCCCACAGAGCGC 0.647000 23 77 1.1804e-14 1.74836e-14 0.003954 1 0 TSSK1B 83942 broad.mit.edu 37 5 112769842 112769842 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:112769842C>A ENST00000390666.3 - 1 886 c.695G>T c.(694-696)cGc>cTc p.R232L MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 232 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R232H(1)|p.R232L(1) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GAAGTTGACGCGGTGCTCCTT 0.587000 33 43 5.90632e-09 7.37929e-09 0.012213 1 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C G rs11540652 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:7577538C>G ENST00000420246.2 - 7 875 c.743G>C c.(742-744)cGg>cCg p.R248P TP53_ENST00000269305.4_Missense_Mutation_p.R248P|TP53_ENST00000445888.2_Missense_Mutation_p.R248P|TP53_ENST00000359597.4_Missense_Mutation_p.R248P|TP53_ENST00000413465.2_Missense_Mutation_p.R248P|TP53_ENST00000455263.2_Missense_Mutation_p.R248P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 43 43 0 0 0.014410 0 0 SMARCA1 6594 broad.mit.edu 37 X 128633819 128633819 + Splice_Site SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:128633819C>G ENST00000371122.4 - 10 1297 c.e10-1 SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.?(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GTTTTAAAACCTAAAAGGTGA 0.289000 28 140 0 0 0.005443 0 0 KNTC1 9735 broad.mit.edu 37 12 123072257 123072257 + Splice_Site SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:123072257G>T ENST00000333479.7 + 39 3907 c.e39-1 KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.?(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TCACTCTGCAGGAGATGGCCT 0.378000 16 10 1.5739e-10 2.05169e-10 0.004007 1 0 CTNNA2 1496 broad.mit.edu 37 2 80831226 80831226 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:80831226T>A ENST00000466387.1 + 20 2941 c.2217T>A c.(2215-2217)tcT>tcA p.S739S AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000361291.4_Silent_p.S773S|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000541047.1_Silent_p.S739S|CTNNA2_ENST00000402739.4_Silent_p.S739S|CTNNA2_ENST00000540488.1_Silent_p.S739S|AC008067.2_ENST00000599412.1_RNA|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.S418S|CTNNA2_ENST00000496558.1_Silent_p.S739S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 739 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.S739S(1)|p.D740E(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAAATACATCTGATGTCATTA 0.418000 10 43 0 0 0.004007 0 0 KBTBD2 25948 broad.mit.edu 37 7 32910171 32910171 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:32910171T>C ENST00000304056.4 - 4 1357 c.658A>G c.(658-660)Atc>Gtc p.I220V AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 220 p.I220V(1) endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TCAATTCTGATTTGGCTAAGA 0.418000 14 57 0 0 0.003163 0 0 ROBO3 64221 broad.mit.edu 37 11 124738967 124738967 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:124738967G>T ENST00000397801.1 + 2 622 c.430G>T c.(430-432)Gtg>Ttg p.V144L ROBO3_ENST00000538940.1_Missense_Mutation_p.V122L NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 144 Ig-like C2-type 1. axon midline choice point recognition integral to membrane receptor activity p.V144L(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTACACTTGCGTGGCTCGCAA 0.682000 7 8 1.76689e-08 2.17562e-08 0.006214 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58549360 58549360 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:58549360G>T ENST00000282326.1 + 3 403 c.156G>T c.(154-156)ccG>ccT p.P52P ZSCAN1_ENST00000391700.1_Silent_p.P52P|ZSCAN1_ENST00000601162.1_Silent_p.P52P NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 52 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P52P(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CGAGCGGGCCGCACCTCGCGC 0.701000 7 6 5.16669e-11 6.8576e-11 0.010729 1 0 OR10T2 128360 broad.mit.edu 37 1 158368639 158368639 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:158368639C>A ENST00000334438.1 - 1 617 c.618G>T c.(616-618)ctG>ctT p.L206L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L206L(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CCATAATTACCAGGATGCTGA 0.448000 15 24 0.00498961 0.00539046 0.004990 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204214839 204214839 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:204214839G>T ENST00000272203.3 - 14 2252 c.1936C>A c.(1936-1938)Cgg>Agg p.R646R PLEKHA6_ENST00000414478.1_Silent_p.R666R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 646 p.R646R(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TGGATTTGCCGGTTCAGCACC 0.582000 30 44 1.34939e-06 1.60731e-06 0.003271 1 0 ARAP2 116984 broad.mit.edu 37 4 36150077 36150077 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:36150077C>T ENST00000303965.4 - 17 3439 c.2950G>A c.(2950-2952)Gga>Aga p.G984R NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 984 PH 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.G984R(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTTTCAGCTCCAAATAAAAAC 0.353000 9 15 0 0 0.008291 0 0 CIITA 4261 broad.mit.edu 37 16 11000871 11000871 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:11000871G>C ENST00000324288.8 + 11 1655 c.1522G>C c.(1522-1524)Gat>Cat p.D508H CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 508 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding p.D508H(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGAAGCGCAAGATGGCTTCCT 0.637000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 15 81 0 0 0.004007 0 0 CELSR2 1952 broad.mit.edu 37 1 109810586 109810586 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:109810586C>T ENST00000271332.3 + 17 6283 c.6222C>T c.(6220-6222)gtC>gtT p.V2074V NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2074 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.V2074V(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCAGCGACGTCAAGGTGGCCT 0.662000 4 29 0 0 0.003080 0 0 NAE1 8883 broad.mit.edu 37 16 66850922 66850922 + Nonsense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:66850922G>A ENST00000379463.2 - 11 868 c.676C>T c.(676-678)Cga>Tga p.R226* NAE1_ENST00000290810.3_Nonsense_Mutation_p.R232*|NAE1_ENST00000394074.2_Nonsense_Mutation_p.R143*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R235* NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 232 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity p.R232*(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TTAGGTATTCGTCCATTTGTC 0.274000 5 46 0 0 0.000602 0 0 SCNM1 79005 broad.mit.edu 37 1 151139642 151139642 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:151139642A>G ENST00000368905.4 + 4 368 c.257A>G c.(256-258)aAg>aGg p.K86R SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 86 mRNA processing|RNA splicing nucleus metal ion binding|protein binding p.K86R(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AAGGAAAGAAAGCAGAATCCA 0.463000 38 137 0 0 0.009718 0 0 C1orf94 84970 broad.mit.edu 37 1 34684357 34684357 + Missense_Mutation SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:34684357T>G ENST00000488417.1 + 7 1912 c.1792T>G c.(1792-1794)Ttt>Gtt p.F598V C1orf94_ENST00000373374.3_Missense_Mutation_p.F408V NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 408 protein binding p.F408V(1)|p.F598V(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGGCATAAACTTTTAGATCTC 0.498000 19 79 0 0 0.012319 0 0 SNHG10 283596 broad.mit.edu 37 14 95999655 95999655 + RNA SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:95999655T>A ENST00000500370.2 - 0 766 SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000553559.1_RNA CCAGCAACATTGTAAAAAAAT 0.338000 17 98 0 0 0.007413 0 0 FGF13 2258 broad.mit.edu 37 X 137793019 137793019 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:137793019G>T ENST00000315930.6 - 1 808 c.147C>A c.(145-147)gtC>gtA p.V49V FGF13_ENST00000441825.2_Intron|FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 49 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity p.V49V(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CGAAGAGTTTGACCCGGGAAA 0.547000 31 163 8.16721e-17 1.25706e-16 0.010818 1 0 HDAC9 9734 broad.mit.edu 37 7 18869106 18869106 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:18869106G>T ENST00000406451.3 + 19 2542 c.2392G>T c.(2392-2394)Gtt>Ttt p.V798F HDAC9_ENST00000401921.1_Missense_Mutation_p.V757F|HDAC9_ENST00000441542.2_Missense_Mutation_p.V801F|HDAC9_ENST00000432645.2_Missense_Mutation_p.V798F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 798 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.V801F(2) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTTTAATTCAGTTGCAATTAC 0.363000 24 49 9.80776e-20 1.56618e-19 0.006320 1 0 CACNG8 59283 broad.mit.edu 37 19 54466459 54466459 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:54466459G>T ENST00000270458.2 + 1 166 c.63G>T c.(61-63)gtG>gtT p.V21V NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 21 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.V21V(1) kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGGTGCAGGTGCTGCTGACGA 0.672000 6 8 5.18039e-06 6.08547e-06 0.003080 1 0 GRIN3A 116443 broad.mit.edu 37 9 104433015 104433015 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:104433015C>A ENST00000361820.3 - 3 2279 c.1679G>T c.(1678-1680)aGc>aTc p.S560I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 560 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding p.S560I(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTATGGAGGCTGCTAAAAAG 0.443000 33 29 4.34311e-12 5.96593e-12 0.003271 1 0 WDR49 151790 broad.mit.edu 37 3 167246840 167246840 + Splice_Site SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:167246840C>A ENST00000308378.3 - 10 1655 c.1350_splice c.e10+1 p.E450_splice WDR49_ENST00000453925.2_Splice_Site_p.E514_splice|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Splice_Site_p.E275_splice NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 450 p.E450D(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTCAATTTACCTCTATATTCC 0.358000 11 28 1.52009e-12 2.12813e-12 0.003163 1 0 ZBTB7B 51043 broad.mit.edu 37 1 154988888 154988888 + Silent SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:154988888C>G ENST00000368426.3 + 4 1484 c.1347C>G c.(1345-1347)ctC>ctG p.L449L ZBTB7B_ENST00000292176.2_Silent_p.L449L|ZBTB7B_ENST00000417934.2_Silent_p.L483L|ZBTB7B_ENST00000535420.1_Silent_p.L449L NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 449 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.L449L(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGCGCCACCTCAAAGGCCAGA 0.652000 5 63 0 0 0.000602 0 0 DARC 2532 broad.mit.edu 37 1 159175317 159175317 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:159175317T>A ENST00000537147.1 + 3 931 c.88T>A c.(88-90)Tat>Aat p.Y30N DARC_ENST00000368122.2_Missense_Mutation_p.Y30N|DARC_ENST00000368121.2_Missense_Mutation_p.Y32N Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 30 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity p.Y32H(1)|p.Y32N(1) large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GAATTCTTCCTATGGTGTGAA 0.542000 18 102 0 0 0.008871 0 0 TXNDC16 57544 broad.mit.edu 37 14 52923870 52923870 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:52923870T>A ENST00000281741.4 - 17 2012 c.1641A>T c.(1639-1641)gcA>gcT p.A547A TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 547 cell redox homeostasis extracellular region p.A547A(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGTAGTTTCCTGCTTCACTAA 0.294000 20 49 0 0 0.008871 0 0 MECP2 4204 broad.mit.edu 37 X 153296370 153296370 + Missense_Mutation SNP G G C rs63749747 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:153296370G>C ENST00000303391.6 - 4 1158 c.909C>G c.(907-909)atC>atG p.I303M MECP2_ENST00000453960.2_Missense_Mutation_p.I315M NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 303 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity p.I303M(1) breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCGCTTCTTGATGGGGAGTA 0.602000 34 132 0 0 0.003755 0 0 PCDH15 65217 broad.mit.edu 37 10 55581628 55581628 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:55581628G>T ENST00000361849.3 - 34 6258 c.5864C>A c.(5863-5865)aCt>aAt p.T1955N PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1953N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1930N|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1950N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1884N|PCDH15_ENST00000373957.3_Missense_Mutation_p.T807N|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1913N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1953 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.T1953N(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTACAGTGAAGTAGATTGACT 0.353000 HNSCC(58;0.16) 14 58 1.49906e-05 1.73308e-05 0.002450 1 0 STAB2 55576 broad.mit.edu 37 12 104100609 104100609 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:104100609C>A ENST00000388887.2 + 38 4240 c.4036C>A c.(4036-4038)Cag>Aag p.Q1346K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1346 Laminin EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.Q1346K(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCCCCAATGCCAGCCCTGCCC 0.547000 67 37 1.93348e-29 3.41871e-29 0.014410 1 0 GRM7 2917 broad.mit.edu 37 3 7721839 7721839 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:7721839C>A ENST00000486284.1 + 9 2829 c.2555C>A c.(2554-2556)cCt>cAt p.P852H GRM7_ENST00000403881.1_Missense_Mutation_p.P852H|GRM7_ENST00000389336.4_Missense_Mutation_p.P852H|GRM7_ENST00000402647.2_Missense_Mutation_p.P852H|GRM7_ENST00000357716.4_Missense_Mutation_p.P852H NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 852 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.P852H(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATTTTCCACCCTGAACTCAAT 0.493000 25 34 2.79863e-10 3.62051e-10 0.004656 1 0 RFWD2 64326 broad.mit.edu 37 1 175957481 175957481 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:175957481G>A ENST00000367669.3 - 17 2429 c.1915C>T c.(1915-1917)Cat>Tat p.H639Y RFWD2_ENST00000308769.8_Missense_Mutation_p.H615Y NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 639 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding p.H639Y(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCATTGATATGACCCTTGAAG 0.393000 36 30 0 0 0.004878 0 0 HKDC1 80201 broad.mit.edu 37 10 71005913 71005913 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:71005913C>T ENST00000354624.5 + 8 1087 c.954C>T c.(952-954)ctC>ctT p.L318L HKDC1_ENST00000395086.2_Silent_p.L318L NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 318 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.L318L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGGCTGGCCTCCTGTTTGGTG 0.537000 27 69 0 0 0.005443 0 0 LVRN 206338 broad.mit.edu 37 5 115351451 115351451 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:115351451T>A ENST00000357872.4 + 18 2869 c.2745T>A c.(2743-2745)gcT>gcA p.A915A AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 915 proteolysis integral to membrane metallopeptidase activity|zinc ion binding p.A915A(1) ACTGGCAAGCTGTGAGTAAAA 0.423000 14 21 0 0 0.002450 0 0 DGAT1 8694 broad.mit.edu 37 8 145541627 145541627 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:145541627G>T ENST00000332324.4 - 9 1078 c.805C>A c.(805-807)Cgc>Agc p.R269S DGAT1_ENST00000531896.1_Missense_Mutation_p.P299Q NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 269 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity p.R269S(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CGGGGAGAGCGGGGAAAGTTG 0.622000 16 46 5.03518e-11 6.70047e-11 0.007413 1 0 CYP4F8 11283 broad.mit.edu 37 19 15734084 15734084 + RNA SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:15734084G>T ENST00000441682.2 + 0 878 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding p.E272*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CGTCATCCAGGAGCGGCGCCG 0.577000 23 29 2.2171e-23 3.67837e-23 0.009535 1 0 AKAP6 9472 broad.mit.edu 37 14 33046386 33046386 + Nonsense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:33046386G>T ENST00000280979.4 + 5 2577 c.2407G>T c.(2407-2409)Gaa>Taa p.E803* AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E803*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.E803* NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 803 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.E803*(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGAAACTACAGAAAATTGGAC 0.393000 23 141 6.44725e-10 8.23636e-10 0.014323 1 0 ERC2 26059 broad.mit.edu 37 3 55922479 55922479 + Missense_Mutation SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:55922479T>G ENST00000288221.6 - 14 2757 c.2502A>C c.(2500-2502)gaA>gaC p.E834D NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 834 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.E834D(2) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAAGTGCGCTTCTTTTTCGG 0.532000 75 85 0 0 0.014410 0 0 SLC39A11 201266 broad.mit.edu 37 17 70845835 70845835 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:70845835C>A ENST00000542342.2 - 6 648 c.560G>T c.(559-561)gGc>gTc p.G187V SLC39A11_ENST00000255559.3_Missense_Mutation_p.G180V|SLC39A11_ENST00000579732.1_Missense_Mutation_p.G180V NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 187 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.G180V(1) endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 GCTGCTGCCGCCGGGCTGTGC 0.597000 35 88 4.67007e-22 7.67332e-22 0.008740 1 0 VPS13A 23230 broad.mit.edu 37 9 79853290 79853290 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:79853290A>G ENST00000360280.3 + 19 2148 c.1888A>G c.(1888-1890)Aag>Gag p.K630E VPS13A_ENST00000357409.5_Missense_Mutation_p.K630E|VPS13A_ENST00000376634.4_Missense_Mutation_p.K630E|VPS13A_ENST00000376636.3_Missense_Mutation_p.K630E NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 630 Golgi to endosome transport|protein transport intracellular protein binding p.K630E(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATTTCGCAGTAAGACAGCAAC 0.333000 21 18 0 0 0.010504 0 0 SETDB1 9869 broad.mit.edu 37 1 150935079 150935079 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:150935079C>G ENST00000271640.5 + 18 3365 c.3175C>G c.(3175-3177)Cga>Gga p.R1059G SETDB1_ENST00000368969.4_Missense_Mutation_p.R1059G NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1059 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.R1059G(1) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TGAAAGCTCTCGAAATTACGG 0.478000 63 87 0 0 0.014410 0 0 SEPT2 4735 broad.mit.edu 37 2 242276804 242276804 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:242276804A>G ENST00000391973.2 + 6 877 c.349A>G c.(349-351)Aca>Gca p.T117A SEPT2_ENST00000360051.3_Missense_Mutation_p.T117A|SEPT2_ENST00000407971.1_Missense_Mutation_p.T77A|SEPT2_ENST00000401990.1_Missense_Mutation_p.T127A|SEPT2_ENST00000391971.2_Missense_Mutation_p.T117A|SEPT2_ENST00000402092.2_Missense_Mutation_p.T117A NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 117 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding p.T117A(1) central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CAGTTTTAAGACAATTATCTC 0.413000 19 131 0 0 0.010504 0 0 SLC15A2 6565 broad.mit.edu 37 3 121634151 121634151 + Silent SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:121634151A>G ENST00000489711.1 + 6 994 c.606A>G c.(604-606)acA>acG p.T202T SLC15A2_ENST00000295605.2_Silent_p.T171T NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 202 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.T202T(1) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CATTTATCACACCCATGCTGA 0.443000 16 85 0 0 0.004990 0 0 SNHG14 104472715 broad.mit.edu 37 15 25458686 25458686 + RNA SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:25458686G>T ENST00000424208.1 + 0 2643 SNHG14_ENST00000424333.1_RNA NR_003305.1 AGCCCCTGGTGCACTGAAGCT 0.602000 15 18 3.27435e-08 4.01246e-08 0.002450 1 0 SFMBT2 57713 broad.mit.edu 37 10 7214469 7214469 + Silent SNP C C A rs145957081 byFrequency TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:7214469C>A ENST00000361972.4 - 18 2229 c.2139G>T c.(2137-2139)gcG>gcT p.A713A SFMBT2_ENST00000397167.1_Silent_p.A713A NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 713 regulation of transcription, DNA-dependent nucleus p.A713A(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CCCCCGAGCCCGCGGTGAAGT 0.642000 8 20 5.4927e-09 6.87934e-09 0.004482 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136594267 136594267 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:136594267G>A ENST00000355849.5 + 6 1168 c.758G>A c.(757-759)gGg>gAg p.G253E KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 253 Pro-rich. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding p.G253E(1) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) CCCCCAACTGGGTACAGACCT 0.557000 16 35 0 0 0.003163 0 0 TRAV7 28686 broad.mit.edu 37 14 22251572 22251572 + RNA SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:22251572G>T ENST00000390429.3 + 0 189 ATACAGGGATGGGTCCCAAAC 0.443000 29 26 1.22384e-17 1.92425e-17 0.013726 1 0 MAPK10 5602 broad.mit.edu 37 4 87080500 87080500 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:87080500G>A ENST00000395169.3 - 4 793 c.73C>T c.(73-75)Cgc>Tgc p.R25C MAPK10_ENST00000361569.2_Missense_Mutation_p.R63C|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000359221.3_Missense_Mutation_p.R63C|MAPK10_ENST00000395166.1_Missense_Mutation_p.R25C|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.R63C|MAPK10_ENST00000449047.2_5'UTR NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 63 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding p.R63C(1) breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTCTGGTAGCGCTTGAGAACT 0.443000 28 71 0 0 0.009535 0 0 MGAM 8972 broad.mit.edu 37 7 141762468 141762468 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:141762468C>A ENST00000475668.2 + 35 4277 c.4223C>A c.(4222-4224)cCa>cAa p.P1408Q MGAM_ENST00000549489.2_Missense_Mutation_p.P1408Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1408 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.P1408Q(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCACAGAATCCAGAGAGGAGC 0.428000 61 33 1.34159e-35 2.43969e-35 0.014410 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129040017 129040017 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:129040017C>T ENST00000274487.4 + 21 3372 c.3227C>T c.(3226-3228)cCc>cTc p.P1076L CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1076 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P1076L(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCTACCAGACCCAGGGAGGCT 0.458000 76 122 0 0 0.014410 0 0 MS4A12 54860 broad.mit.edu 37 11 60264840 60264840 + Missense_Mutation SNP C C T rs138899173 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:60264840C>T ENST00000016913.4 + 2 106 c.49C>T c.(49-51)Ccc>Tcc p.P17S MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P17S NM_017716.2 NP_060186.2 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 12 17 integral to membrane receptor activity p.P17S(1) breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 TGAAACCATACCCAACCCTTA 0.433000 29 113 0 0 0.006999 0 0 OR2M4 26245 broad.mit.edu 37 1 248402987 248402987 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:248402987G>C ENST00000306687.1 + 1 757 c.757G>C c.(757-759)Ggt>Cgt p.G253R NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253R(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTCTACTACGGTGCTGCTAT 0.537000 12 70 0 0 0.001855 0 0 GOT2 2806 broad.mit.edu 37 16 58752583 58752583 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:58752583A>C ENST00000245206.5 - 5 573 c.445T>G c.(445-447)Ttt>Gtt p.F149V GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.F106V NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 149 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.F149V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGAACTTAAAAAATCTTTGC 0.408000 19 87 0 0 0.012319 0 0 MROH8 140699 broad.mit.edu 37 20 35749391 35749391 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:35749391C>T ENST00000400441.3 - 16 2024 c.2025G>A c.(2023-2025)ttG>ttA p.L675L MROH8_ENST00000217333.8_Silent_p.L504L|MROH8_ENST00000441008.2_Silent_p.L661L maestro heat-like repeat family member 8 p.L675L(1) TGAATTCCTGCAAGCAGCATG 0.463000 15 36 0 0 0.004990 0 0 MACC1 346389 broad.mit.edu 37 7 20198853 20198853 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:20198853G>A ENST00000400331.5 - 5 1439 c.1131C>T c.(1129-1131)ccC>ccT p.P377P MACC1_ENST00000332878.4_Silent_p.P377P|MACC1_ENST00000589011.1_Silent_p.P377P NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 377 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity p.P377P(1) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GGATATATTTGGGTCCATAAA 0.393000 16 20 0 0 0.006122 0 0 TNR 7143 broad.mit.edu 37 1 175335155 175335155 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:175335155C>A ENST00000367674.1 - 11 2881 c.2173G>T c.(2173-2175)Ggg>Tgg p.G725W TNR_ENST00000263525.2_Missense_Mutation_p.G725W NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 725 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.G725W(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAGGCAATCCCAGAGGATGGG 0.547000 12 135 2.80697e-09 3.55041e-09 0.010729 1 0 THSD7A 221981 broad.mit.edu 37 7 11501699 11501699 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:11501699A>T ENST00000423059.3 - 10 2691 c.2440T>A c.(2440-2442)Tgc>Agc p.C814S AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 814 TSP type-1 8. integral to membrane p.C814S(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGATCTGTGCAGTCTCGGCCC 0.537000 HNSCC(18;0.044) 28 114 0 0 0.008361 0 0 GDF6 392255 broad.mit.edu 37 8 97156985 97156985 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:97156985G>C ENST00000287020.5 - 2 1273 c.1174C>G c.(1174-1176)Cgc>Ggc p.R392G NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 392 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.R392C(1)|p.R392G(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) AGGTGCGAGCGCAGCGGGAAG 0.632000 22 22 0 0 0.002780 0 0 ABCA12 26154 broad.mit.edu 37 2 215833452 215833452 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:215833452G>T ENST00000272895.7 - 38 5989 c.5770C>A c.(5770-5772)Ctt>Att p.L1924I ABCA12_ENST00000389661.4_Missense_Mutation_p.L1606I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1924 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.L1924I(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACCTTGGCAAGTGTTCTATTG 0.333000 4 36 0.000274275 0.000308032 0.004482 1 0 MALT1 10892 broad.mit.edu 37 18 56363658 56363658 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:56363658T>C ENST00000348428.3 + 3 695 c.437T>C c.(436-438)cTg>cCg p.L146P MALT1_ENST00000345724.3_Missense_Mutation_p.L146P|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 146 Ig-like C2-type 1. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity p.L146P(1) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TTTGTGAAACTGTGTTGCCGG 0.308000 T BIRC3 MALT 5 29 0 0 0.001168 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563490 140563490 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:140563490C>T ENST00000361016.2 + 1 2511 c.1356C>T c.(1354-1356)acC>acT p.T452T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 452 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.T452T(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACTTTCACCCAAACCTCCT 0.567000 57 128 0 0 0.014410 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156910213 156910213 + Silent SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:156910213A>C ENST00000368194.3 - 36 4558 c.3519T>G c.(3517-3519)acT>acG p.T1173T ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.T1133T|ARHGEF11_ENST00000315174.8_Silent_p.T549T NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1133 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.T1173T(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTGGGACCCAGTGCCTGTTT 0.602000 11 46 0 0 0.010729 0 0 CDK6 1021 broad.mit.edu 37 7 92404042 92404042 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:92404042G>T ENST00000265734.4 - 3 748 c.337C>A c.(337-339)Cca>Aca p.P113T CDK6_ENST00000424848.2_Missense_Mutation_p.P113T NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 113 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity p.P113T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCAGGCTCTGGAACTTTATCC 0.408000 T MLLT10 ALL 20 170 2.21704e-12 3.08693e-12 0.002780 1 0 HTR5A 3361 broad.mit.edu 37 7 154862900 154862900 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:154862900C>A ENST00000287907.2 + 1 867 c.291C>A c.(289-291)agC>agA p.S97R AC093726.4_ENST00000395731.2_Missense_Mutation_p.R38S|AC093726.4_ENST00000543018.1_Missense_Mutation_p.R38S|AC093726.4_ENST00000493904.1_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 97 integral to plasma membrane serotonin receptor activity p.S97R(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGCCGCTGAGCCTGGTGCACG 0.672000 5 63 1.23904e-05 1.43571e-05 0.000602 1 0 KLHL31 401265 broad.mit.edu 37 6 53516934 53516934 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:53516934C>A ENST00000370905.3 - 3 1507 c.1367G>T c.(1366-1368)cGc>cTc p.R456L KLHL31_ENST00000407079.1_Missense_Mutation_p.R456L NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent p.R456L(1) autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) GTGGCAGCAGCGCGCCACCTC 0.711000 11 4 1.26454e-06 1.50977e-06 0.005443 1 0 NOS2 4843 broad.mit.edu 37 17 26093575 26093575 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:26093575C>A ENST00000313735.6 - 19 2440 c.2207G>T c.(2206-2208)aGg>aTg p.R736M NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 736 FAD-binding FR-type. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.R736M(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGATTTGAGCCTCATGGTGAA 0.493000 70 208 6.58394e-13 9.31965e-13 0.014410 1 0 MC2R 4158 broad.mit.edu 37 18 13885062 13885062 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:13885062C>T ENST00000327606.3 - 2 636 c.456G>A c.(454-456)acG>acA p.T152T NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 152 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding p.T152T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) TCCAGATGACCGTAAGCACCA 0.582000 13 60 0 0 0.001855 0 0 MGRN1 23295 broad.mit.edu 37 16 4731568 4731568 + Silent SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:4731568A>C ENST00000399577.5 + 13 1242 c.1149A>C c.(1147-1149)ccA>ccC p.P383P MGRN1_ENST00000415496.1_Silent_p.P362P|MGRN1_ENST00000262370.7_Silent_p.P383P|MGRN1_ENST00000586183.1_Silent_p.P361P|MGRN1_ENST00000588994.1_Silent_p.P361P NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 383 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P383P(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 ACAGCGTCCCACCTGGCTACG 0.637000 28 43 0 0 0.012213 0 0 LAT2 7462 broad.mit.edu 37 7 73636006 73636006 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:73636006C>G ENST00000460943.1 + 10 1261 c.372C>G c.(370-372)ttC>ttG p.F124L LAT2_ENST00000344995.5_Missense_Mutation_p.F124L|LAT2_ENST00000398475.1_Missense_Mutation_p.F124L|LAT2_ENST00000275635.7_Missense_Mutation_p.F124L NM_032464.2 NP_115853.2 Q9GZY6 NTAL_HUMAN linker for activation of T cells family, member 2 124 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding p.F124F(1)|p.F124L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 GGGGGCGGTTCTCGAAGCCCC 0.587000 57 385 0 0 0.014410 0 0 ACOXL 55289 broad.mit.edu 37 2 111542323 111542323 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:111542323G>T ENST00000389811.4 + 3 314 c.90G>T c.(88-90)aaG>aaT p.K30N ACOXL_ENST00000340561.4_Missense_Mutation_p.K30N|ACOXL_ENST00000439055.1_Missense_Mutation_p.K30N Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 30 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity p.K30N(2) kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 AGAAAACAAAGAATTTTGTCA 0.438000 17 90 7.45023e-12 1.01793e-11 0.010504 1 0 MAN2C1 4123 broad.mit.edu 37 15 75648297 75648297 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:75648297G>A ENST00000565683.1 - 26 3135 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S MAN2C1_ENST00000569482.1_Missense_Mutation_p.P1002S|MAN2C1_ENST00000267978.5_Missense_Mutation_p.P1025S|MAN2C1_ENST00000563622.1_Missense_Mutation_p.P926S NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 1025 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding p.P1025S(1) central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 ACTTGGAAGGGAGAAAAGGTG 0.582000 13 31 0 0 0.002450 0 0 VCAN 1462 broad.mit.edu 37 5 82833774 82833774 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:82833774C>A ENST00000265077.3 + 8 5517 c.4952C>A c.(4951-4953)aCa>aAa p.T1651K VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T664K|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1651 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.T1651K(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATGAAGATACAATGTTCACC 0.398000 29 38 1.13719e-10 1.49001e-10 0.008361 1 0 CNGA4 1262 broad.mit.edu 37 11 6261575 6261575 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:6261575G>T ENST00000379936.2 + 4 666 c.551G>T c.(550-552)aGc>aTc p.S184I CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 184 response to stimulus|sensory perception of smell cAMP binding p.S184I(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTGGAACAGCTGCCTATAC 0.592000 74 62 1.07363e-35 1.95937e-35 0.014410 1 0 ADAMTS19 171019 broad.mit.edu 37 5 129019893 129019893 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:129019893C>A ENST00000274487.4 + 18 2872 c.2727C>A c.(2725-2727)agC>agA p.S909R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 909 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S909R(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAACCAGAGCTCTAAAGCAC 0.423000 55 88 2.08403e-16 3.19801e-16 0.014410 1 0 CD226 10666 broad.mit.edu 37 18 67534622 67534622 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:67534622G>C ENST00000280200.4 - 6 1124 c.856C>G c.(856-858)Cta>Gta p.L286V CD226_ENST00000577287.1_Missense_Mutation_p.L131V|CD226_ENST00000581982.1_Missense_Mutation_p.L131V|CD226_ENST00000582621.1_Missense_Mutation_p.L286V NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 286 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity p.L286V(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TCTGTAAATAGATCTCTTCTC 0.333000 26 162 0 0 0.006320 0 0 MGRN1 23295 broad.mit.edu 37 16 4727537 4727537 + Silent SNP C C G rs148776960 by1000genomes TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:4727537C>G ENST00000399577.5 + 11 1122 c.1029C>G c.(1027-1029)ccC>ccG p.P343P MGRN1_ENST00000415496.1_Silent_p.P344P|MGRN1_ENST00000262370.7_Silent_p.P343P|MGRN1_ENST00000586183.1_Silent_p.P343P|MGRN1_ENST00000588994.1_Silent_p.P343P NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 343 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P343P(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CCTTCAGCCCCGTCCTGGCCC 0.682000 9 60 0 0 0.006214 0 0 ABCA13 154664 broad.mit.edu 37 7 48311611 48311611 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:48311611G>C ENST00000435803.1 + 17 2372 c.2348G>C c.(2347-2349)aGa>aCa p.R783T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 783 transport integral to membrane ATP binding|ATPase activity p.R728T(1)|p.R783T(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGTTTAAAGAGAGACCCATCT 0.428000 12 17 0 0 0.001855 0 0 PTGFR 5737 broad.mit.edu 37 1 78959227 78959227 + Splice_Site SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:78959227G>T ENST00000370756.3 + 2 1035 c.e2+1 PTGFR_ENST00000370757.3_Splice_Site|PTGFR_ENST00000370758.1_Splice_Site NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.?(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CCCATTTCTGGTAAGAGCCTG 0.418000 5 43 0.00116845 0.00127308 0.001168 1 0 PCDHA4 56144 broad.mit.edu 37 5 140187200 140187200 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:140187200C>A ENST00000530339.1 + 1 428 c.428C>A c.(427-429)gCg>gAg p.A143E PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A143E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A143E NM_018907.2 NP_061730.1 p.A143E(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTCCATCGCGGAATCCAGG 0.562000 23 116 7.92952e-12 1.07766e-11 0.003954 1 0 POTEG 404785 broad.mit.edu 37 14 19553590 19553590 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:19553590G>C ENST00000409832.3 + 1 226 c.174G>C c.(172-174)agG>agC p.R58S NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 58 p.R58S(2) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACACTCAGGAGCAAGATGG 0.612000 30 445 0 0 0.010771 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926439 106926439 + RNA SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:106926439C>A ENST00000434710.1 - 0 182 CTCAGGGACCCCCCAGGCTGT 0.577000 7 154 0.000157383 0.000177534 0.003080 1 0 EYA1 2138 broad.mit.edu 37 8 72182002 72182002 + Silent SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:72182002A>C ENST00000340726.3 - 11 1662 c.1023T>G c.(1021-1023)acT>acG p.T341T EYA1_ENST00000419131.1_Silent_p.T336T|EYA1_ENST00000388740.3_Silent_p.T308T|EYA1_ENST00000388742.4_Silent_p.T341T|EYA1_ENST00000388743.2_Silent_p.T340T|EYA1_ENST00000388741.2_Silent_p.T307T|EYA1_ENST00000303824.7_Silent_p.T335T NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 341 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.T341T(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CGTAGGACCCAGTAAGCAAGG 0.403000 21 38 0 0 0.004656 0 0 IQGAP2 10788 broad.mit.edu 37 5 75902107 75902107 + Nonsense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:75902107C>T ENST00000274364.6 + 12 1633 c.1336C>T c.(1336-1338)Caa>Taa p.Q446* IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.Q5* NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 446 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity p.Q446*(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGTTAATGCTCAAATTCAAGA 0.358000 5 47 0 0 0.001168 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159781811 159781811 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:159781811C>G ENST00000393975.3 - 2 346 c.343G>C c.(343-345)Gga>Cga p.G115R NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 70 Collagen-like. collagen p.G115R(1) breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGTCGTGTCCATCTTGGCCG 0.677000 8 18 0 0 0.010729 0 0 MXRA5 25878 broad.mit.edu 37 X 3241311 3241311 + Silent SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:3241311A>T ENST00000217939.6 - 5 2569 c.2415T>A c.(2413-2415)atT>atA p.I805I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 805 extracellular region p.I805I(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTGTGGTTTTAATCAATGGGG 0.483000 17 112 0 0 0.014410 0 0 ANK2 287 broad.mit.edu 37 4 114279144 114279144 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:114279144T>A ENST00000357077.4 + 38 9423 c.9370T>A c.(9370-9372)Tat>Aat p.Y3124N ANK2_ENST00000264366.6_Missense_Mutation_p.Y3091N|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3091 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.Y3124N(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAAAGGTCCTATGCAGATGA 0.448000 25 52 0 0 0.006320 0 0 SPG11 80208 broad.mit.edu 37 15 44876526 44876526 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:44876526G>A ENST00000261866.7 - 30 5368 c.5352C>T c.(5350-5352)gcC>gcT p.A1784A SPG11_ENST00000427534.2_Silent_p.A1784A|SPG11_ENST00000535302.2_Silent_p.A1784A|SPG11_ENST00000558319.1_Silent_p.A1784A NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1784 cell death cytosol|integral to membrane|nucleus protein binding p.A1784A(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGTCCTCCTGGGCAAGCCAGT 0.582000 7 16 0 0 0.013537 0 0 IKBKE 9641 broad.mit.edu 37 1 206666678 206666678 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:206666678A>C ENST00000367120.3 + 20 2385 c.2012A>C c.(2011-2013)tAc>tCc p.Y671S IKBKE_ENST00000537984.1_Missense_Mutation_p.Y586S|C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000462698.1_3'UTR NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 671 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding p.Y671S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) ATAGCTCCTTACCCCAGCCCT 0.582000 22 138 0 0 0.007291 0 0 OR51V1 283111 broad.mit.edu 37 11 5221019 5221019 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:5221019C>A ENST00000321255.1 - 1 911 c.912G>T c.(910-912)aaG>aaT p.K304N NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K304N(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGTTGGGTCTTGACACTGT 0.408000 28 29 3.99451e-17 6.18544e-17 0.009535 1 0 ABCB4 5244 broad.mit.edu 37 7 87031578 87031578 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:87031578G>T ENST00000265723.4 - 28 3806 c.3695C>A c.(3694-3696)aCc>aAc p.T1232N ABCB4_ENST00000359206.3_Missense_Mutation_p.T1225N|ABCB4_ENST00000453593.1_Missense_Mutation_p.T1178N|ABCB4_ENST00000358400.3_Missense_Mutation_p.T1178N|ABCB4_ENST00000545634.1_Missense_Mutation_p.T1225N NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1232 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.T1225N(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CACAATGCAGGTGCGGCCTTC 0.453000 12 137 0.000978159 0.00107262 0.010729 1 0 CASR 846 broad.mit.edu 37 3 122003461 122003461 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:122003461C>G ENST00000498619.1 + 7 3128 c.2690C>G c.(2689-2691)gCc>gGc p.A897G CASR_ENST00000490131.1_Missense_Mutation_p.A887G|CASR_ENST00000296154.5_Missense_Mutation_p.A887G NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 887 Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.A887G(1)|p.A887V(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GCTGCCCGGGCCACGCTGCGC 0.617000 10 32 0 0 0.010729 0 0 SACS 26278 broad.mit.edu 37 13 23907731 23907731 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:23907731T>A ENST00000382298.3 - 10 10872 c.10284A>T c.(10282-10284)acA>acT p.T3428T SACS_ENST00000382292.3_Silent_p.T3428T|SACS_ENST00000402364.1_Silent_p.T2678T NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3428 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.T3428T(1)|p.T3281T(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTACGTAGCATGTTCCAAATT 0.358000 10 132 0 0 0.008291 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174210776 174210776 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:174210776C>G ENST00000251507.4 + 5 872 c.698C>G c.(697-699)tCc>tGc p.S233C RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S196C|RABGAP1L_ENST00000367689.3_5'UTR NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 233 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity p.S233C(1) NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 CATGTTTTCTCCTGTGAAATT 0.348000 5 65 0 0 0.001168 0 0 TBC1D16 125058 broad.mit.edu 37 17 77921563 77921563 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:77921563C>A ENST00000310924.2 - 9 1724 c.1609G>T c.(1609-1611)Gtg>Ttg p.V537L TBC1D16_ENST00000340848.7_Missense_Mutation_p.V175L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.V176L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.V162L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.V175L NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 537 Rab-GAP TBC. intracellular Rab GTPase activator activity p.V537L(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) ATGGGCGCCACCAGGTCCGAC 0.607000 28 58 1.75199e-13 2.53616e-13 0.007291 1 0 SNRNP200 23020 broad.mit.edu 37 2 96953686 96953686 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:96953686C>T ENST00000323853.5 - 25 3357 c.3280G>A c.(3280-3282)Gcg>Acg p.A1094T SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1094 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.A1094T(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCAAATATCGCTCGCATCAAC 0.507000 10 77 0 0 0.013537 0 0 IPO5 3843 broad.mit.edu 37 13 98641334 98641334 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:98641334A>T ENST00000261574.5 + 7 617 c.437A>T c.(436-438)cAg>cTg p.Q146L IPO5_ENST00000490680.1_Missense_Mutation_p.Q128L|IPO5_ENST00000539640.1_Intron NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 128 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding p.Q146L(1) breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GGCAATAACCAGTGGCCCGAA 0.388000 4 36 0 0 0.000602 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120348166 120348166 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:120348166G>A ENST00000397843.2 + 36 3629 c.3463G>A c.(3463-3465)Gat>Aat p.D1155N ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1136N|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1052N NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1155 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.D1155N(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AGGAGATAATGATGAAGAAGA 0.343000 T MLL AML 5 51 0 0 0.001168 0 0 TRIM16 10626 broad.mit.edu 37 17 15539485 15539485 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:15539485C>A ENST00000455584.2 - 3 757 c.714G>T c.(712-714)gaG>gaT p.E238D TRIM16_ENST00000416464.2_Missense_Mutation_p.E108D|TRIM16_ENST00000336708.7_Missense_Mutation_p.E238D|TRIM16_ENST00000579219.1_Missense_Mutation_p.E22D|TRIM16_ENST00000577886.1_Missense_Mutation_p.E22D|TRIM16_ENST00000578237.1_Missense_Mutation_p.E238D p.E238D(1) GCTCCTTCTCCTCTAAGAAGA 0.572000 12 107 4.36969e-10 5.61033e-10 0.001855 1 0 BRWD3 254065 broad.mit.edu 37 X 79945592 79945592 + Splice_Site SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:79945592C>A ENST00000373275.4 - 32 3819 c.e32-1 BRWD3_ENST00000473691.1_Splice_Site NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 p.?(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TGATATTCTCCTGTGAAAGAA 0.328000 6 27 3.59834e-05 4.15068e-05 0.001168 1 0 TEX14 56155 broad.mit.edu 37 17 56642232 56642232 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:56642232C>G ENST00000389934.3 - 29 4299 c.4182G>C c.(4180-4182)gaG>gaC p.E1394D TEX14_ENST00000240361.8_Missense_Mutation_p.E1400D|TEX14_ENST00000349033.5_Missense_Mutation_p.E1354D NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1400 cytoplasm ATP binding|protein kinase activity p.E1354D(1)|p.E1400D(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTGTTACCTCTCTGTGTCCT 0.318000 11 126 0 0 0.008291 0 0 ATP8B2 57198 broad.mit.edu 37 1 154319197 154319197 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:154319197G>T ENST00000368489.3 + 26 3225 c.3225G>T c.(3223-3225)ggG>ggT p.G1075G NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1061 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.G1075G(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACAGCAATGGGCTCTTCGACA 0.537000 40 187 1.07121e-22 1.76576e-22 0.006999 1 0 TBL1XR1 79718 broad.mit.edu 37 3 176771667 176771667 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:176771667T>C ENST00000430069.1 - 4 357 c.98A>G c.(97-99)cAt>cGt p.H33R TBL1XR1_ENST00000457928.2_Missense_Mutation_p.H33R Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 33 LisH. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding p.H33R(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) CTGACTGATATGGCTTTCTAT 0.378000 23 64 0 0 0.004656 0 0 SOX6 55553 broad.mit.edu 37 11 16071447 16071447 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:16071447C>G ENST00000352083.6 - 11 1366 c.1289G>C c.(1288-1290)cGa>cCa p.R430P SOX6_ENST00000527619.1_Missense_Mutation_p.R392P|SOX6_ENST00000316399.6_Missense_Mutation_p.R430P|SOX6_ENST00000528252.1_Missense_Mutation_p.R389P|SOX6_ENST00000528429.1_Missense_Mutation_p.R430P|SOX6_ENST00000396356.3_Missense_Mutation_p.R430P P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 430 muscle organ development nucleus sequence-specific DNA binding transcription factor activity p.R430P(1)|p.R430Q(1)|p.R392P(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TGTCTTGGGTCGGGATGAGAG 0.458000 28 212 0 0 0.004878 0 0 PARD3B 117583 broad.mit.edu 37 2 206480499 206480499 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:206480499G>T ENST00000406610.2 + 23 3787 c.3580G>T c.(3580-3582)Gat>Tat p.D1194Y PARD3B_ENST00000351153.1_Missense_Mutation_p.D1125Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D1093Y|PARD3B_ENST00000358768.2_Missense_Mutation_p.D1132Y|PARD3B_ENST00000488622.1_3'UTR NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1194 cell cycle|cell division endomembrane system|tight junction p.Q1131_D1132>HY(1)|p.Q1132_D1133>HY(1)|p.Q1124_D1125>HY(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCGAACCCAGGATTCCCGGCA 0.607000 40 72 6.33695e-27 1.10518e-26 0.007835 1 0 FAM172A 83989 broad.mit.edu 37 5 93217245 93217245 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:93217245C>A ENST00000395965.3 - 7 859 c.717G>T c.(715-717)aaG>aaT p.K239N FAM172A_ENST00000509163.1_Missense_Mutation_p.K193N|FAM172A_ENST00000505869.1_Missense_Mutation_p.K129N|FAM172A_ENST00000509739.1_Missense_Mutation_p.K92N NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 239 endoplasmic reticulum|extracellular region p.K239N(1) endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 AATCACGTCGCTTCTTTGTTT 0.358000 27 52 7.01153e-11 9.28211e-11 0.007291 1 0 ZNF354C 30832 broad.mit.edu 37 5 178506304 178506304 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:178506304C>T ENST00000315475.6 + 5 1177 c.871C>T c.(871-873)Ctg>Ttg p.L291L NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L291L(1) endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) TATCAAACATCTGAGAGTGCA 0.413000 38 133 0 0 0.005524 0 0 ZNF395 55893 broad.mit.edu 37 8 28206278 28206278 + Silent SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:28206278C>G ENST00000344423.5 - 10 1631 c.1500G>C c.(1498-1500)acG>acC p.T500T ZNF395_ENST00000523095.1_Silent_p.T500T|ZNF395_ENST00000523202.1_Silent_p.T500T NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 500 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.T500T(1) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) ACCGGCAGGCCGTGCACCACT 0.617000 10 45 0 0 0.001855 0 0 CHM 1121 broad.mit.edu 37 X 85213885 85213885 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:85213885C>A ENST00000357749.2 - 6 829 c.800G>T c.(799-801)cGa>cTa p.R267L CHM_ENST00000537751.1_Missense_Mutation_p.R119L|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 267 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.R267L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCGTCCTTCTCGAAATGCAAG 0.353000 15 105 1.15088e-07 1.40358e-07 0.004007 1 0 KIF4B 285643 broad.mit.edu 37 5 154395531 154395531 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:154395531G>T ENST00000435029.4 + 1 2272 c.2112G>T c.(2110-2112)acG>acT p.T704T NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 704 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.T704T(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GACGTAAAACGGAAGAGGCAG 0.463000 32 43 1.67305e-13 2.43569e-13 0.006230 1 0 PTPRR 5801 broad.mit.edu 37 12 71054797 71054797 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:71054797G>T ENST00000283228.2 - 12 2141 c.1689C>A c.(1687-1689)ccC>ccA p.P563P PTPRR_ENST00000342084.4_Silent_p.P451P|PTPRR_ENST00000378778.1_Silent_p.P357P|PTPRR_ENST00000440835.2_Silent_p.P318P|PTPRR_ENST00000549308.1_Silent_p.P318P|PTPRR_ENST00000537619.2_5'UTR NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 563 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.P563P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCTGTAGGAGGGGCTGGGCAC 0.532000 13 7 0.000422831 0.000473831 0.004007 1 0 KDR 3791 broad.mit.edu 37 4 55981185 55981185 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:55981185G>T ENST00000263923.4 - 5 809 c.514C>A c.(514-516)Cct>Act p.P172T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 172 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.P172N(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTACCATCAGGAACAAATCTC 0.378000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 9 28 0.000673444 0.000740064 0.008291 1 0 ELL3 80237 broad.mit.edu 37 15 44066902 44066902 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:44066902T>C ENST00000319359.3 - 7 1356 c.715A>G c.(715-717)Agc>Ggc p.S239G RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 239 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex p.S239G(1) cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TGTAGGGGGCTTGGCACTAAA 0.463000 45 151 0 0 0.011902 0 0 ZNF17 7565 broad.mit.edu 37 19 57931868 57931868 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:57931868G>A ENST00000307658.7 + 4 1277 c.1014G>A c.(1012-1014)ggG>ggA p.G338G ZNF17_ENST00000601808.1_Silent_p.G336G|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G336G(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) ATGAATGTGGGAAATACTTTA 0.418000 4 71 0 0 0.009096 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562563 140562563 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:140562563G>T ENST00000361016.2 + 1 1584 c.429G>T c.(427-429)ccG>ccT p.P143P NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 143 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.P143P(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAAAATACCGGAAAACAGTC 0.388000 16 40 5.01169e-05 5.755e-05 0.004990 1 0 ABCC11 85320 broad.mit.edu 37 16 48231969 48231969 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:48231969G>T ENST00000394747.1 - 16 2576 c.2227C>A c.(2227-2229)Cag>Aag p.Q743K ABCC11_ENST00000537808.1_Intron|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q743K|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q743K|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q743K NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 743 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Q743K(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCTGTGTCCTGCAACATGTCC 0.572000 37 65 9.85913e-13 1.38788e-12 0.009718 1 0 IGSF9B 22997 broad.mit.edu 37 11 133789800 133789800 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:133789800C>A ENST00000321016.8 - 18 4050 c.3820G>T c.(3820-3822)Ggc>Tgc p.G1274C IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1274C Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1274 Pro-rich. integral to membrane|plasma membrane p.G1274C(1)|p.G730C(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGGTGAAGCCCATGGCGGGC 0.692000 10 20 0.00136819 0.00148755 0.013537 1 0 RAD9A 5883 broad.mit.edu 37 11 67159667 67159667 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:67159667G>T ENST00000307980.2 + 2 163 c.70G>T c.(70-72)Ggg>Tgg p.G24W NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 24 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding p.G24W(1) lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GTCCCGCATCGGGGACGAGCT 0.706000 Other conserved DNA damage response genes 9 20 2.80697e-09 3.55041e-09 0.010729 1 0 NPHP4 261734 broad.mit.edu 37 1 5964716 5964716 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:5964716T>C ENST00000378156.4 - 16 2369 c.2104A>G c.(2104-2106)Atc>Gtc p.I702V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 702 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity p.I702V(1) NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGCACGAGGATGTGGGTCAGG 0.577000 8 41 0 0 0.010729 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053860 95053860 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:95053860G>T ENST00000329597.7 + 3 371 c.161G>T c.(160-162)aGg>aTg p.R54M SERPINA5_ENST00000553780.1_Missense_Mutation_p.R54M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R54M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R54M NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 54 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.R54I(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GACCTCTACAGGGCCTTGGCT 0.627000 12 38 4.14922e-12 5.71496e-12 0.004007 1 0 FOLH1 2346 broad.mit.edu 37 11 49204738 49204738 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:49204738G>T ENST00000340334.7 - 8 1206 c.838C>A c.(838-840)Cat>Aat p.H280N FOLH1_ENST00000356696.3_Missense_Mutation_p.H295N|FOLH1_ENST00000256999.2_Missense_Mutation_p.H295N|FOLH1_ENST00000533034.1_Missense_Mutation_p.H280N|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 295 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.H295N(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CCAATTGGATGAACAGGAATA 0.358000 34 64 1.57351e-24 2.67132e-24 0.003755 1 0 RIMS2 9699 broad.mit.edu 37 8 105001603 105001603 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:105001603G>T ENST00000507740.1 + 14 2610 c.2374G>T c.(2374-2376)Gac>Tac p.D792Y RIMS2_ENST00000436393.2_Missense_Mutation_p.D778Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D839Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1000Y NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1062 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.D792Y(2)|p.D1067Y(1)|p.D1000Y(1)|p.D778Y(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TAGCCGAATGGACAGACATCG 0.368000 HNSCC(12;0.0054) 16 127 1.22574e-08 1.52769e-08 0.014323 1 0 CPS1 1373 broad.mit.edu 37 2 211525369 211525369 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:211525369T>C ENST00000233072.5 + 32 4113 c.3917T>C c.(3916-3918)gTt>gCt p.V1306A CPS1_ENST00000430249.2_Missense_Mutation_p.V1312A|CPS1_ENST00000451903.2_Missense_Mutation_p.V855A NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1306 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V1312A(1)|p.V1306A(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GCTGACTATGTTGCAATTAAG 0.318000 22 75 0 0 0.003954 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455381 84455381 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:84455381G>T ENST00000377084.2 - 1 1147 c.262C>A c.(262-264)Cac>Aac p.H88N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 88 integral to membrane p.H88N(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTTTCCATGTGCAAACTAACC 0.448000 26 48 1.45844e-13 2.13542e-13 0.013726 1 0 SLC12A1 6557 broad.mit.edu 37 15 48524927 48524927 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:48524927C>A ENST00000396577.3 + 8 1194 c.979C>A c.(979-981)Caa>Aaa p.Q327K SLC12A1_ENST00000558405.1_Missense_Mutation_p.Q327K|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000330289.6_Missense_Mutation_p.Q327K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.Q327K NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 327 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.Q327K(2) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATTCCAGGCCCAAGTCATTCT 0.338000 41 51 8.16277e-20 1.30758e-19 0.006999 1 0 ADH1B 125 broad.mit.edu 37 4 100232725 100232725 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:100232725G>T ENST00000305046.8 - 7 984 c.917C>A c.(916-918)cCt>cAt p.P306H ADH1B_ENST00000394887.3_Missense_Mutation_p.P266H P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 306 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.P306H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TAGCAGCATAGGGTTTATTGA 0.468000 26 134 1.74807e-11 2.33839e-11 0.010818 1 0 RANBP17 64901 broad.mit.edu 37 5 170305133 170305133 + Silent SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:170305133T>C ENST00000523189.1 + 2 215 c.51T>C c.(49-51)caT>caC p.H17H NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 17 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.H17H(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TATGTACTCATCTCTACATAG 0.323000 T TRD@ ALL 9 33 0 0 0.004482 0 0 FSTL5 56884 broad.mit.edu 37 4 162697067 162697067 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:162697067T>A ENST00000306100.5 - 5 1005 c.569A>T c.(568-570)gAc>gTc p.D190V FSTL5_ENST00000379164.4_Missense_Mutation_p.D189V|FSTL5_ENST00000536695.1_Missense_Mutation_p.D189V|FSTL5_ENST00000427802.2_Missense_Mutation_p.D189V NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 190 EF-hand 1. extracellular region calcium ion binding p.D190V(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCCATTACTGTCTGCATCAAA 0.289000 4 54 0 0 0.000602 0 0 OR5B3 441608 broad.mit.edu 37 11 58170869 58170869 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:58170869G>A ENST00000309403.2 - 1 13 c.14C>T c.(13-15)aCa>aTa p.T5I NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T5I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGTTACTTCTGTCTTATTTTC 0.358000 31 114 0 0 0.008361 0 0 LRP1B 53353 broad.mit.edu 37 2 141004719 141004719 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:141004719G>A ENST00000389484.3 - 87 14231 c.13260C>T c.(13258-13260)aaC>aaT p.N4420N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4420 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.N4420N(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGCCTGACCAGTTGGTGGAGC 0.393000 TSP Lung(27;0.18) 14 23 0 0 0.007413 0 0 HUWE1 10075 broad.mit.edu 37 X 53674396 53674396 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:53674396A>T ENST00000342160.3 - 5 723 c.266T>A c.(265-267)cTg>cAg p.L89Q HUWE1_ENST00000218328.8_Missense_Mutation_p.L89Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.L89Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 89 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.L89Q(2) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AAGCATTTTCAGTTGCTCTCT 0.478000 18 71 0 0 0.006122 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558901 113558901 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:113558901C>A ENST00000284601.3 - 1 219 c.151G>T c.(151-153)Gac>Tac p.D51Y NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 51 glycogen metabolic process integral to membrane p.D51Y(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AGGTATATGTCTTCAGAAGAA 0.393000 18 170 4.35082e-09 5.47603e-09 0.010504 1 0 SNHG14 104472715 broad.mit.edu 37 15 25458687 25458687 + RNA SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:25458687C>T ENST00000424208.1 + 0 2644 SNHG14_ENST00000424333.1_RNA NR_003305.1 GCCCCTGGTGCACTGAAGCTC 0.607000 15 18 0 0 0.002450 0 0 DCAF4 26094 broad.mit.edu 37 14 73421133 73421133 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:73421133G>T ENST00000553457.1 + 10 937 c.647G>T c.(646-648)gGa>gTa p.G216V DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Missense_Mutation_p.G316V|DCAF4_ENST00000555042.1_Missense_Mutation_p.G317V|DCAF4_ENST00000509153.1_Missense_Mutation_p.G256V|DCAF4_ENST00000394234.2_Missense_Mutation_p.G216V Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 316 CUL4 RING ubiquitin ligase complex p.G316V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GTGGTGACGGGACACCGGCAG 0.542000 9 68 1.12685e-05 1.30868e-05 0.004482 1 0 BRINP3 339479 broad.mit.edu 37 1 190067649 190067649 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:190067649C>A ENST00000367462.3 - 8 2031 c.1800G>T c.(1798-1800)aaG>aaT p.K600N FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.K498N NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 600 extracellular region p.K600N(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GTAGGTCCAACTTAGTCCGCT 0.468000 75 373 5.72124e-26 9.91035e-26 0.014410 1 0 KRT1 3848 broad.mit.edu 37 12 53073922 53073922 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:53073922C>T ENST00000252244.3 - 1 269 c.211G>A c.(211-213)Ggt>Agt p.G71S NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 71 Gly/Phe/Ser-rich.|Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.G71S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 TTACTGCCACCAAGGTTAACA 0.542000 10 7 0 0 0.002450 0 0 POTEM 641455 broad.mit.edu 37 14 20020047 20020047 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:20020047C>G ENST00000551509.1 - 1 225 c.174G>C c.(172-174)agG>agC p.R58S NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 58 p.R58S(2) endometrium(4)|kidney(1)|lung(4) 9 CCATCTTGCTCCTGAGTGTCT 0.612000 7 133 0 0 0.013537 0 0 DCHS2 54798 broad.mit.edu 37 4 155156682 155156682 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:155156682C>A ENST00000357232.3 - 25 7756 c.7757G>T c.(7756-7758)aGa>aTa p.R2586I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2586 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2586I(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCGGGTCACTCTCAAGTCCGC 0.428000 29 100 3.1745e-13 4.54389e-13 0.008361 1 0 TENM4 26011 broad.mit.edu 37 11 78412990 78412990 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:78412990C>T ENST00000278550.7 - 28 5130 c.4668G>A c.(4666-4668)ggG>ggA p.G1556G NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.G1556G(2) TTCGGATGTTCCCAAGGTCGG 0.483000 41 84 0 0 0.011902 0 0 ATRX 546 broad.mit.edu 37 X 76920178 76920178 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:76920178T>C ENST00000373344.5 - 11 4113 c.3899A>G c.(3898-3900)aAa>aGa p.K1300R ATRX_ENST00000395603.3_Missense_Mutation_p.K1262R|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1300 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.K1300R(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTTCTTTTTTTCCCTTCTTC 0.373000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 70 83 0 0 0.014410 0 0 MXRA8 54587 broad.mit.edu 37 1 1289872 1289872 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:1289872C>T ENST00000309212.6 - 6 997 c.967G>A c.(967-969)Ggc>Agc p.G323S MXRA8_ENST00000342753.4_Missense_Mutation_p.G222S|MXRA8_ENST00000445648.2_Missense_Mutation_p.G323S NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 323 integral to membrane p.G323S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACGTTGTGGCCGCGCGCCAGT 0.692000 6 56 0 0 0.010729 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918707 154918707 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:154918707C>T ENST00000368463.3 - 10 1514 c.1443G>A c.(1441-1443)ggG>ggA p.G481G PBXIP1_ENST00000542459.1_Silent_p.G326G|PBXIP1_ENST00000539880.1_Silent_p.G308G|PBXIP1_ENST00000368465.1_Silent_p.G452G NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 481 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity p.G481G(1) breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTCTCTCTGCCCATCCCACC 0.562000 92 499 0 0 0.014410 0 0 IDUA 3425 broad.mit.edu 37 4 994668 994668 + Splice_Site SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:994668A>C ENST00000453894.1 + 3 332 c.e3-1 IDUA_ENST00000247933.4_Splice_Site|IDUA_ENST00000514224.1_Splice_Site P35475 IDUA_HUMAN iduronidase, alpha-L- disaccharide metabolic process lysosome cation binding|L-iduronidase activity p.?(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CCTGTGTTCCAGGGTTTGAGC 0.622000 10 53 0 0 0.001855 0 0 RYR3 6263 broad.mit.edu 37 15 33926924 33926924 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:33926924C>A ENST00000389232.4 + 25 3235 c.3165C>A c.(3163-3165)gaC>gaA p.D1055E RYR3_ENST00000415757.3_Missense_Mutation_p.D1055E NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1055 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.D1055E(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCCATCAGACCAAGAACTAG 0.453000 31 53 4.65686e-17 7.1893e-17 0.003755 1 0 CASP2 835 broad.mit.edu 37 7 142985564 142985564 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:142985564G>T ENST00000310447.5 + 1 257 c.16G>T c.(16-18)Gcg>Tcg p.A6S CASP2_ENST00000392925.2_Missense_Mutation_p.A6S NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 6 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding p.A6S(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) GGCGCCGAGCGCGGGGTCTTG 0.672000 32 19 1.45844e-13 2.13542e-13 0.013726 1 0 ZNF761 388561 broad.mit.edu 37 19 53957975 53957975 + RNA SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:53957975G>T ENST00000454407.1 + 0 667 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G18W(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GTTCCATGCAGGGACATTGCA 0.383000 31 45 4.02929e-09 5.08387e-09 0.010818 1 0 KRT85 3891 broad.mit.edu 37 12 52760934 52760934 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:52760934C>A ENST00000257901.3 - 1 331 c.256G>T c.(256-258)Ggc>Tgc p.G86C NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 86 Head. epidermis development keratin filament protein binding|structural molecule activity p.G86C(1) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCGCACACGCCCCCGGAGCGG 0.687000 29 26 7.53189e-24 1.25778e-23 0.007835 1 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858837 149858837 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:149858837C>G ENST00000331380.2 + 1 313 c.313C>G c.(313-315)Cag>Gag p.Q105E NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 105 nucleosome assembly nucleosome|nucleus DNA binding p.Q105E(1) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CACCATCGCCCAGGGCGGCGT 0.527000 25 130 0 0 0.006320 0 0 AP3S1 1176 broad.mit.edu 37 5 115249134 115249134 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:115249134A>G ENST00000316788.7 + 6 1086 c.529A>G c.(529-531)Att>Gtt p.I177V AP3S1_ENST00000505423.1_3'UTR NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 177 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity p.I177V(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) CCCAAGAAATATTAACATTGG 0.408000 10 139 0 0 0.001855 0 0 GFI1B 8328 broad.mit.edu 37 9 135865148 135865148 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:135865148G>T ENST00000339463.3 + 10 1487 c.668G>T c.(667-669)cGc>cTc p.R223L GFI1B_ENST00000372123.1_Missense_Mutation_p.R177L|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177L|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177L|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223L|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223L Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 223 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.R223F(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TTCGAGTGCCGCATGTGCGGC 0.677000 16 15 1.01871e-10 1.34165e-10 0.008871 1 0 PLOD3 8985 broad.mit.edu 37 7 100853847 100853847 + Missense_Mutation SNP G G A rs145508748 byFrequency TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:100853847G>A ENST00000223127.3 - 13 1864 c.1466C>T c.(1465-1467)cCg>cTg p.P489L NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 489 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.P489L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) GGCCATGTCCGGGTCTGTGTC 0.612000 10 85 0 0 0.008291 0 0 OR10G2 26534 broad.mit.edu 37 14 22102444 22102444 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:22102444G>A ENST00000542433.1 - 1 652 c.555C>T c.(553-555)gaC>gaT p.D185D NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D185D(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CTGCGCGGATGTCACAGATAA 0.552000 19 90 0 0 0.004656 0 0 RYR2 6262 broad.mit.edu 37 1 237813270 237813270 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:237813270G>T ENST00000366574.2 + 50 7923 c.7606G>T c.(7606-7608)Gct>Tct p.A2536S RYR2_ENST00000360064.6_Missense_Mutation_p.A2534S|RYR2_ENST00000542537.1_Missense_Mutation_p.A2520S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2536 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A2534S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCTCTCTTTGCTGGCACAGA 0.478000 25 161 7.92952e-12 1.07766e-11 0.003954 1 0 SLC15A3 51296 broad.mit.edu 37 11 60711180 60711180 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:60711180T>C ENST00000227880.3 - 3 1210 c.977A>G c.(976-978)tAc>tGc p.Y326C NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 326 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity p.Y326C(1) central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GACCATCCAGTAGGGCACCAG 0.592000 14 26 0 0 0.004007 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900849 4900849 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:4900849C>A ENST00000404991.1 - 1 776 c.590G>T c.(589-591)tGc>tTc p.C197F RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 197 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GCTTCTTATGCATCTAATGTC 0.368000 23 49 9.57634e-11 1.26447e-10 0.003330 1 0 CSNK1G3 1456 broad.mit.edu 37 5 122950054 122950054 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:122950054A>C ENST00000395412.1 + 14 2051 c.1332A>C c.(1330-1332)aaA>aaC p.K444N CSNK1G3_ENST00000521364.1_Missense_Mutation_p.K412N|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.K413N|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.K337N|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.K436N|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.K300N|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.K436N|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.K444N|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.K412N NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 436 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.K436N(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) GTTTTTTCAAACGAAGGAAAA 0.368000 20 37 0 0 0.012319 0 0 LMOD1 25802 broad.mit.edu 37 1 201868511 201868511 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:201868511G>T ENST00000367288.4 - 2 1876 c.1630C>A c.(1630-1632)Ccc>Acc p.P544T RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 544 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding p.P544T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ATGATAAGGGGTGGAGCCAAG 0.567000 7 27 0.000157383 0.000177534 0.003080 1 0 NPFFR2 10886 broad.mit.edu 37 4 73013093 73013093 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:73013093T>A ENST00000308744.6 + 4 1231 c.1133T>A c.(1132-1134)cTc>cAc p.L378H NPFFR2_ENST00000358749.3_Missense_Mutation_p.L276H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L279H NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 378 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.L378H(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ATTAAGATGCTCCTGATTGTG 0.502000 18 53 0 0 0.007413 0 0 OR52K1 390036 broad.mit.edu 37 11 4510855 4510855 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:4510855C>A ENST00000307632.3 + 1 747 c.725C>A c.(724-726)aCa>aAa p.T242K NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T242K(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GCATTTGGGACATGTGTGTCT 0.542000 130 100 8.39346e-61 1.58854e-60 0.014410 1 0 TXLNG 55787 broad.mit.edu 37 X 16859727 16859727 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chrX:16859727T>A ENST00000380122.5 + 10 1486 c.1425T>A c.(1423-1425)ccT>ccA p.P475P TXLNG_ENST00000398155.4_Silent_p.P343P|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 475 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane p.P475P(1) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 TAGCAACACCTGTGATGCAGC 0.532000 14 45 0 0 0.001855 0 0 SERPINA3 12 broad.mit.edu 37 14 95088697 95088697 + Missense_Mutation SNP C C G rs144438452 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:95088697C>G ENST00000553947.1 + 7 1900 c.1012C>G c.(1012-1014)Ctg>Gtg p.L338V SERPINA3_ENST00000467132.1_Missense_Mutation_p.L313V|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.L95V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L313V|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L313V P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 313 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.L313V(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TGAGCTCTACCTGCCAAAGTT 0.498000 35 143 0 0 0.006999 0 0 LILRB1 10859 broad.mit.edu 37 19 55143080 55143080 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:55143080C>A ENST00000396331.1 + 5 557 c.200C>A c.(199-201)gCa>gAa p.A67E LILRB1_ENST00000396327.3_Missense_Mutation_p.A67E|LILRB1_ENST00000324602.7_Missense_Mutation_p.A67E|LILRB1_ENST00000396317.1_Missense_Mutation_p.A67E|LILRB1_ENST00000418536.2_Missense_Mutation_p.A67E|LILRB1_ENST00000448689.1_Missense_Mutation_p.A67E|LILRB1_ENST00000396321.2_Missense_Mutation_p.A67E|LILRB1_ENST00000434867.2_Missense_Mutation_p.A67E|LILRB1_ENST00000396332.4_Missense_Mutation_p.A67E|LILRB1_ENST00000396315.1_Missense_Mutation_p.A67E|LILRB1_ENST00000427581.2_Missense_Mutation_p.A103E NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 67 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.A67E(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AAGAAAACAGCACTCTGGATT 0.552000 HNSCC(37;0.09) 50 60 4.78724e-31 8.52363e-31 0.014410 1 0 NEGR1 257194 broad.mit.edu 37 1 72400950 72400950 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:72400950C>A ENST00000357731.4 - 2 460 c.221G>T c.(220-222)cGg>cTg p.R74L NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.R72L NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 74 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane p.R74L(1) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AATACTTGACCGGTTCAGCCA 0.383000 22 43 2.32416e-17 3.62087e-17 0.014323 1 0 LPA 4018 broad.mit.edu 37 6 161016486 161016486 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:161016486C>A ENST00000447678.1 - 22 3489 c.3369G>T c.(3367-3369)tgG>tgT p.W1123C LPA_ENST00000316300.5_Missense_Mutation_p.W1123C NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3631 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.W1123C(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGCAGTACTCCCACCTGACAC 0.507000 37 60 2.13384e-23 3.55176e-23 0.014410 1 0 ERICH1 157697 broad.mit.edu 37 8 618725 618725 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:618725C>A ENST00000262109.7 - 5 1208 c.1131G>T c.(1129-1131)gcG>gcT p.A377A ERICH1_ENST00000522706.1_Silent_p.A283A NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 377 p.A377A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TGCTGTGTGACGCAAGGCGGT 0.522000 26 46 2.24059e-21 3.65797e-21 0.006320 1 0 NPY5R 4889 broad.mit.edu 37 4 164271917 164271917 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:164271917G>T ENST00000515560.1 + 4 2014 c.492G>T c.(490-492)tgG>tgT p.W164C NPY5R_ENST00000506953.1_Missense_Mutation_p.W164C|NPY5R_ENST00000338566.3_Missense_Mutation_p.W164C Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 164 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.W164C(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CTACTGTCTGGACACTAGGTT 0.378000 54 240 5.73376e-24 9.60639e-24 0.014410 1 0 PSD2 84249 broad.mit.edu 37 5 139216501 139216501 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:139216501G>T ENST00000274710.3 + 10 1714 c.1509G>T c.(1507-1509)ctG>ctT p.L503L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 503 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.L503L(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCCTTCCTGGATGTCCCAC 0.592000 90 144 3.29526e-42 6.12319e-42 0.014410 1 0 RIMS4 140730 broad.mit.edu 37 20 43384969 43384969 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:43384969G>A ENST00000372851.3 - 6 682 c.616C>T c.(616-618)Cgg>Tgg p.R206W RIMS4_ENST00000541604.2_Missense_Mutation_p.R207W NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 206 C2. exocytosis|neurotransmitter transport cell junction|synapse p.R206W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CGCTCCATCCGCCCGTAGTTC 0.627000 5 24 0 0 0.006214 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563649 140563649 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:140563649C>A ENST00000361016.2 + 1 2670 c.1515C>A c.(1513-1515)tcC>tcA p.S505S NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 505 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S505S(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGGTCTCCATCAACGCAG 0.687000 13 35 7.11191e-15 1.05645e-14 0.013726 1 0 MYLK 4638 broad.mit.edu 37 3 123458844 123458844 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:123458844A>T ENST00000360772.3 - 7 756 c.378T>A c.(376-378)agT>agA p.S126R MYLK_ENST00000360304.3_Missense_Mutation_p.S126R|MYLK_ENST00000359169.1_Missense_Mutation_p.S126R|MYLK_ENST00000346322.5_Missense_Mutation_p.S126R|MYLK_ENST00000475616.1_Missense_Mutation_p.S126R Q15746 MYLK_HUMAN myosin light chain kinase 126 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.S126R(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTTCGCAAAACTTCCTGCAA 0.463000 65 156 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181701768 181701768 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:181701768G>C ENST00000526775.1 + 19 2654 c.2489G>C c.(2488-2490)cGc>cCc p.R830P CACNA1E_ENST00000367570.1_Missense_Mutation_p.R849P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R849P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R800P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R456P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R781P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R830P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 849 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R849P(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAGGAGGAGCGCATCAGCCGT 0.677000 3 2 0 0 0.009096 0 0 BDP1 55814 broad.mit.edu 37 5 70808256 70808256 + Splice_Site SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:70808256G>T ENST00000358731.4 + 18 4510 c.e18+1 BDP1_ENST00000380675.2_Splice_Site NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.?(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTAATTTAAGGTACAAGTGTG 0.313000 16 48 6.94344e-10 8.84813e-10 0.006122 1 0 RAD51D 5892 broad.mit.edu 37 17 33434066 33434066 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:33434066G>T ENST00000345365.6 - 5 676 c.421C>A c.(421-423)Ctg>Atg p.L141M RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000590016.1_Missense_Mutation_p.L161M|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000394589.4_Missense_Mutation_p.L141M|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000460118.2_Missense_Mutation_p.L22M NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 141 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding p.L141M(1)|p.L161M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GAAGCTGTCAGCCCTCCATTG 0.542000 Direct reversal of damage 23 115 5.45024e-15 8.11975e-15 0.003330 1 0 FUT10 84750 broad.mit.edu 37 8 33246950 33246950 + Missense_Mutation SNP C C T rs149448636 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:33246950C>T ENST00000327671.5 - 4 1374 c.743G>A c.(742-744)cGa>cAa p.R248Q FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.R220Q|FUT10_ENST00000335589.3_Missense_Mutation_p.R186Q|FUT10_ENST00000524021.1_Missense_Mutation_p.R220Q NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 248 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.R248Q(1) cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GTCTTTGTTTCGTAAACATTC 0.453000 9 135 0 0 0.010729 0 0 NOD2 64127 broad.mit.edu 37 16 50744658 50744658 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:50744658A>T ENST00000300589.2 + 4 941 c.836A>T c.(835-837)gAg>gTg p.E279V NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 279 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding p.E279V(1) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CTGGGCCTGGAGGAGCTCTTC 0.642000 12 22 0 0 0.002450 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045394 142045394 + RNA SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:142045394T>A ENST00000390392.3 + 0 143 TGTGCGGTTCTCTGTCTCCTG 0.587000 75 244 0 0 0.014410 0 0 ZEB1 6935 broad.mit.edu 37 10 31809437 31809437 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:31809437C>A ENST00000446923.2 + 7 1517 c.1126C>A c.(1126-1128)Caa>Aaa p.Q376K ZEB1_ENST00000361642.5_Missense_Mutation_p.Q393K|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q372K|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q325K|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q392K|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 392 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.Q392K(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GGGCATGGTGCAAGCTGTTGT 0.438000 14 60 1.3612e-06 1.61762e-06 0.003163 1 0 SERPINA5 5104 broad.mit.edu 37 14 95053861 95053861 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:95053861G>T ENST00000329597.7 + 3 372 c.162G>T c.(160-162)agG>agT p.R54S SERPINA5_ENST00000553780.1_Missense_Mutation_p.R54S|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R54S|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R54S NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 54 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.R54I(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ACCTCTACAGGGCCTTGGCTT 0.622000 12 38 4.14922e-12 5.71496e-12 0.004007 1 0 LATS2 26524 broad.mit.edu 37 13 21620119 21620119 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:21620119C>A ENST00000382592.4 - 2 452 c.47G>T c.(46-48)cGg>cTg p.R16L LATS2_ENST00000542899.1_Missense_Mutation_p.R16L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 16 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R16L(2) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CAGTCGCTGCCGGCTATTTCC 0.458000 31 71 6.70999e-13 9.47183e-13 0.004289 1 0 NLRP4 147945 broad.mit.edu 37 19 56373482 56373482 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:56373482T>A ENST00000301295.6 + 5 2565 c.2143T>A c.(2143-2145)Tgt>Agt p.C715S NLRP4_ENST00000587891.1_Missense_Mutation_p.C640S|NLRP4_ENST00000346986.5_Missense_Mutation_p.C715S NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 715 ATP binding p.C715S(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CAGGTCCCTCTGTGATGCCTT 0.478000 55 50 0 0 0.014410 0 0 DAGLA 747 broad.mit.edu 37 11 61511535 61511535 + Silent SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:61511535C>G ENST00000257215.5 + 20 2819 c.2703C>G c.(2701-2703)cgC>cgG p.R901R NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 901 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R901R(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) ACAATGGGCGCCTGGGGGACT 0.667000 10 43 0 0 0.008291 0 0 NLRP2 55655 broad.mit.edu 37 19 55493644 55493644 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:55493644T>C ENST00000543010.1 + 6 721 c.578T>C c.(577-579)aTc>aCc p.I193T NLRP2_ENST00000538819.1_Missense_Mutation_p.I169T|NLRP2_ENST00000537859.1_Missense_Mutation_p.I171T|NLRP2_ENST00000263437.6_Missense_Mutation_p.I190T|NLRP2_ENST00000391721.4_Missense_Mutation_p.I169T|NLRP2_ENST00000427260.2_Missense_Mutation_p.I170T|NLRP2_ENST00000339757.7_Missense_Mutation_p.I171T|NLRP2_ENST00000448584.2_Missense_Mutation_p.I193T NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 193 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.I193T(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AAGATGCTGATCCCATTCAGC 0.537000 91 121 0 0 0.014410 0 0 SYT4 6860 broad.mit.edu 37 18 40854041 40854041 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr18:40854041A>T ENST00000255224.3 - 2 721 c.353T>A c.(352-354)cTg>cAg p.L118Q SYT4_ENST00000590752.1_Missense_Mutation_p.L100Q|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 118 cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.L118Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TGCATTCTCCAGATCAGAAGG 0.438000 18 87 0 0 0.008871 0 0 GABRB3 2562 broad.mit.edu 37 15 26806188 26806188 + Missense_Mutation SNP T T G rs149963014 by1000genomes TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:26806188T>G ENST00000541819.2 - 9 1241 c.1139A>C c.(1138-1140)tAt>tCt p.Y380S GABRB3_ENST00000545868.1_Missense_Mutation_p.Y239S|GABRB3_ENST00000299267.4_Missense_Mutation_p.Y324S|GABRB3_ENST00000311550.5_Missense_Mutation_p.Y324S|GABRB3_ENST00000400188.3_Missense_Mutation_p.Y253S P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 324 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.Y324S(2)|p.Y380S(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GACAAAGGCATACTCCAGAAG 0.483000 18 78 0 0 0.008871 0 0 NPY5R 4889 broad.mit.edu 37 4 164271576 164271576 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:164271576G>T ENST00000515560.1 + 4 1673 c.151G>T c.(151-153)Gta>Tta p.V51L NPY5R_ENST00000506953.1_Missense_Mutation_p.V51L|NPY5R_ENST00000338566.3_Missense_Mutation_p.V51L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 51 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.V51L(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CTATACATTTGTAAGTCTTCT 0.393000 55 103 1.0442e-30 1.85273e-30 0.014410 1 0 EXOSC7 23016 broad.mit.edu 37 3 45030648 45030648 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:45030648A>G ENST00000265564.7 + 2 122 c.74A>G c.(73-75)gAt>gGt p.D25G EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 25 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding p.D25G(1) endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) CTCCGTGTGGATGGCCGTGGC 0.522000 15 21 0 0 0.008871 0 0 ADCY2 108 broad.mit.edu 37 5 7695931 7695931 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:7695931C>A ENST00000338316.4 + 6 1025 c.936C>A c.(934-936)gtC>gtA p.V312V ADCY2_ENST00000537121.1_Silent_p.V132V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 312 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.V312V(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGAACTAGTCCACATGCTGA 0.443000 13 50 7.93312e-07 9.51602e-07 0.002450 1 0 TRIML2 205860 broad.mit.edu 37 4 189012595 189012595 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:189012595C>A ENST00000512729.1 - 7 1470 c.1096G>T c.(1096-1098)Gac>Tac p.D366Y TRIML2_ENST00000326754.3_Missense_Mutation_p.D391Y NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 366 B30.2/SPRY. ligase activity p.D366Y(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGACTTGTGTCTCCATTTGGG 0.463000 66 85 1.21705e-43 2.26975e-43 0.014410 1 0 ANXA11 311 broad.mit.edu 37 10 81926685 81926685 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:81926685C>T ENST00000438331.1 - 8 1187 c.705G>A c.(703-705)cgG>cgA p.R235R ANXA11_ENST00000265447.4_Silent_p.R235R|ANXA11_ENST00000372231.3_Silent_p.R235R|ANXA11_ENST00000535999.1_Silent_p.R235R|ANXA11_ENST00000537102.1_Silent_p.R202R|ANXA11_ENST00000360615.4_Silent_p.R235R|ANXA11_ENST00000422982.3_Silent_p.R235R NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 235 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding p.R235R(1) endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GGATCTGCTGCCGCTGCTTGT 0.647000 9 12 0 0 0.006214 0 0 ZNF827 152485 broad.mit.edu 37 4 146823533 146823533 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:146823533T>A ENST00000508784.1 - 2 1105 c.878A>T c.(877-879)gAg>gTg p.E293V ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.E293V Q17R98 ZN827_HUMAN zinc finger protein 827 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E293V(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TGCGGCCACCTCCTTCAGAAG 0.587000 40 70 0 0 0.013114 0 0 TRIML1 339976 broad.mit.edu 37 4 189065202 189065202 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:189065202C>T ENST00000332517.3 + 5 911 c.771C>T c.(769-771)ctC>ctT p.L257L TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 257 multicellular organismal development ligase activity|zinc ion binding p.L257L(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCGAGCCACTCTTGCTTCAGT 0.562000 8 13 0 0 0.008291 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156910211 156910211 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:156910211C>A ENST00000368194.3 - 36 4560 c.3521G>T c.(3520-3522)gGg>gTg p.G1174V ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1134V|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G550V NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1134 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.G1174V(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCTGGGACCCAGTGCCTGT 0.602000 12 46 5.50884e-06 6.44168e-06 0.013537 1 0 PRR23A 729627 broad.mit.edu 37 3 138724774 138724774 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:138724774C>A ENST00000383163.2 - 1 336 c.337G>T c.(337-339)Gga>Tga p.G113* MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 113 p.G113*(1) endometrium(3)|kidney(1)|lung(7) 11 TCCTGCGCTCCTGAGCGTTCG 0.612000 11 34 3.86212e-05 4.44492e-05 0.008291 1 0 SPAST 6683 broad.mit.edu 37 2 32289037 32289037 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:32289037A>C ENST00000315285.3 + 1 262 c.137A>C c.(136-138)cAt>cCt p.H46P SPAST_ENST00000345662.1_Missense_Mutation_p.H46P NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 46 Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity p.H46P(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) gAGTCGCCGCATAAGCGGAAC 0.711000 6 24 0 0 0.004482 0 0 OR5T2 219464 broad.mit.edu 37 11 55999812 55999812 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:55999812G>C ENST00000313264.4 - 1 925 c.850C>G c.(850-852)Cta>Gta p.L284V NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L284V(2) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACTCCAGTTAGGTGAGCTCCA 0.418000 53 204 0 0 0.014410 0 0 TIGIT 201633 broad.mit.edu 37 3 114026903 114026903 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:114026903C>T ENST00000481065.1 + 5 3476 c.861C>T c.(859-861)gcC>gcT p.A287A TIGIT_ENST00000486257.1_Silent_p.A220A|TIGIT_ENST00000383671.3_Silent_p.A220A Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 220 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.A220A(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 AGGACTGTGCCGAGCTGCATG 0.567000 31 204 0 0 0.005524 0 0 CAPN13 92291 broad.mit.edu 37 2 30977208 30977208 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:30977208A>T ENST00000295055.8 - 9 1065 c.889T>A c.(889-891)Tgt>Agt p.C297S CAPN13_ENST00000534090.2_Missense_Mutation_p.C297S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 297 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.C297S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CGCGGATCACAGGTTTCCTCC 0.453000 3 19 0 0 0.004672 0 0 NCOA6 23054 broad.mit.edu 37 20 33328755 33328755 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr20:33328755C>A ENST00000374796.2 - 12 7875 c.5305G>T c.(5305-5307)Gat>Tat p.D1769Y NCOA6_ENST00000359003.2_Missense_Mutation_p.D1769Y Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1769 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.D1769Y(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTAGCCTCATCTGGATTCAAT 0.517000 28 59 1.50538e-07 1.83155e-07 0.006320 1 0 PARD3B 117583 broad.mit.edu 37 2 206480498 206480498 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:206480498G>T ENST00000406610.2 + 23 3786 c.3579G>T c.(3577-3579)caG>caT p.Q1193H PARD3B_ENST00000351153.1_Missense_Mutation_p.Q1124H|PARD3B_ENST00000349953.3_Missense_Mutation_p.Q1092H|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q1131H|PARD3B_ENST00000488622.1_3'UTR NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1193 cell cycle|cell division endomembrane system|tight junction p.Q1131_D1132>HY(1)|p.Q1132_D1133>HY(1)|p.Q1124_D1125>HY(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACCGAACCCAGGATTCCCGGC 0.612000 40 71 9.73076e-26 1.67987e-25 0.006999 1 0 MUC16 94025 broad.mit.edu 37 19 9064676 9064676 + Silent SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:9064676A>G ENST00000397910.4 - 3 22973 c.22770T>C c.(22768-22770)ccT>ccC p.P7590P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7592 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P7590P(2)|p.P3223P(1) 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 TGGACTGCTCAGGGCCTGACA 0.488000 3 98 0 0 0.004672 0 0 KCNK13 56659 broad.mit.edu 37 14 90650865 90650865 + Missense_Mutation SNP G G A rs115329697 byFrequency TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:90650865G>A ENST00000282146.4 + 2 1186 c.745G>A c.(745-747)Gcc>Acc p.A249T NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 249 integral to membrane potassium channel activity|voltage-gated ion channel activity p.A249T(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CAGCCAGAACGCCCACTATGA 0.507000 26 97 0 0 0.007291 0 0 MYO1H 283446 broad.mit.edu 37 12 109853423 109853423 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:109853423A>T ENST00000310903.5 + 15 1653 c.1547A>T c.(1546-1548)aAg>aTg p.K516M MYO1H_ENST00000431443.2_Missense_Mutation_p.K526M B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity p.K516M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TACTGCACCAAGGGTGAGTGG 0.562000 10 7 0 0 0.010729 0 0 CAPN7 23473 broad.mit.edu 37 3 15282026 15282026 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:15282026G>T ENST00000253693.2 + 13 1707 c.1454G>T c.(1453-1455)tGg>tTg p.W485L NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 485 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity p.W485L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 CATTTACGTTGGAAAGGAAGA 0.348000 25 33 3.28513e-13 4.67604e-13 0.003954 1 0 HUNK 30811 broad.mit.edu 37 21 33371024 33371024 + Missense_Mutation SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:33371024A>G ENST00000270112.2 + 11 2032 c.1672A>G c.(1672-1674)Atg>Gtg p.M558V NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 558 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity p.M558V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GATGCTGGACATGGTGCGCTC 0.612000 9 40 0 0 0.006214 0 0 GFI1B 8328 broad.mit.edu 37 9 135865147 135865147 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:135865147C>T ENST00000339463.3 + 10 1486 c.667C>T c.(667-669)Cgc>Tgc p.R223C GFI1B_ENST00000372123.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177C|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177C|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223C Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 223 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.R223F(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CTTCGAGTGCCGCATGTGCGG 0.682000 16 13 0 0 0.008871 0 0 NBAS 51594 broad.mit.edu 37 2 15555760 15555760 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:15555760C>A ENST00000281513.5 - 25 2872 c.2847G>T c.(2845-2847)gtG>gtT p.V949V NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 949 p.V949V(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GCTCATTAGCCACACCAGGCG 0.383000 29 58 1.13719e-10 1.49001e-10 0.008361 1 0 KIAA1551 55196 broad.mit.edu 37 12 32137950 32137950 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:32137950G>C ENST00000312561.4 + 4 4475 c.4061G>C c.(4060-4062)gGa>gCa p.G1354A KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.G1354A(1) AGTTCTTTGGGACAGTCATTA 0.343000 85 43 0 0 0.014410 0 0 CYYR1 116159 broad.mit.edu 37 21 27840859 27840859 + Silent SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:27840859A>G ENST00000299340.4 - 4 769 c.426T>C c.(424-426)cgT>cgC p.R142R CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 142 integral to membrane p.R142R(1) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GGGGTGGAGAACGCTGTGCTG 0.532000 7 50 0 0 0.003080 0 0 PTGFR 5737 broad.mit.edu 37 1 78959226 78959226 + Splice_Site SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:78959226G>T ENST00000370756.3 + 2 1035 c.798_splice c.e2+1 p.L266_splice PTGFR_ENST00000370757.3_Splice_Site_p.L266_splice|PTGFR_ENST00000370758.1_Splice_Site_p.L266_splice NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 266 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.?(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GCCCATTTCTGGTAAGAGCCT 0.418000 5 44 0.00116845 0.00127308 0.001168 1 0 DNAH9 1770 broad.mit.edu 37 17 11865411 11865411 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:11865411T>A ENST00000262442.3 + 68 13139 c.13071T>A c.(13069-13071)acT>acA p.T4357T DNAH9_ENST00000454412.2_Silent_p.T4281T|DNAH9_ENST00000396001.2_Silent_p.T669T|RP11-1096G20.5_ENST00000580270.1_RNA NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4357 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.T4357T(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGTTCCTGACTGCCATCATGC 0.532000 16 38 0 0 0.006122 0 0 SCN2A 6326 broad.mit.edu 37 2 166243334 166243334 + Missense_Mutation SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:166243334A>T ENST00000375437.2 + 26 4920 c.4630A>T c.(4630-4632)Aac>Tac p.N1544Y SCN2A_ENST00000357398.3_Missense_Mutation_p.N1544Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1544Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1544Y NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1544 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.N1544Y(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CATCTGCCTTAACATGGTCAC 0.368000 28 53 0 0 0.007291 0 0 MME 4311 broad.mit.edu 37 3 154889939 154889939 + Missense_Mutation SNP G G C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:154889939G>C ENST00000460393.1 + 21 2134 c.2014G>C c.(2014-2016)Gaa>Caa p.E672Q MME_ENST00000492661.1_Missense_Mutation_p.E672Q|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.E672Q|MME_ENST00000360490.2_Missense_Mutation_p.E672Q|MME_ENST00000493237.1_Missense_Mutation_p.E672Q NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 672 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.E672Q(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GAATGGCGAAGAAAAATTACT 0.284000 6 66 0 0 0.003080 0 0 TTC18 118491 broad.mit.edu 37 10 75072314 75072314 + Nonsense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr10:75072314T>A ENST00000310715.3 - 11 1330 c.1210A>T c.(1210-1212)Aaa>Taa p.K404* TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Nonsense_Mutation_p.K404*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.K404* NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 404 binding p.K404*(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) ACAGCTTGTTTGGACAGCAGA 0.378000 55 168 0 0 0.014410 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 43 0 0 0.000602 0 0 RP1L1 94137 broad.mit.edu 37 8 10480543 10480543 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:10480543C>T ENST00000382483.3 - 2 392 c.169G>A c.(169-171)Gcc>Acc p.A57T RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 57 intracellular signal transduction p.A57T(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTCTTAAAGGCGCGCTGGTGA 0.647000 24 52 0 0 0.003954 0 0 CATSPERB 79820 broad.mit.edu 37 14 92054420 92054420 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:92054420G>A ENST00000256343.3 - 25 3115 c.2959C>T c.(2959-2961)Cac>Tac p.H987Y NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 987 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.H987Y(1) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GGCACAGTGTGTTCTAAAAAT 0.299000 11 17 0 0 0.010729 0 0 KMT2B 9757 broad.mit.edu 37 19 36218608 36218608 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:36218608G>A ENST00000222270.7 + 17 4312 c.4312G>A c.(4312-4314)Gat>Aat p.D1438N WBP7_ENST00000420124.1_Missense_Mutation_p.D1438N|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 p.D1440N(1) GTGTGGGCCAGATGGGAAGCA 0.652000 30 37 0 0 0.012213 0 0 ZNF524 147807 broad.mit.edu 37 19 56114114 56114114 + Silent SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr19:56114114G>T ENST00000591046.1 + 1 870 c.636G>T c.(634-636)acG>acT p.T212T ZNF524_ENST00000301073.3_Silent_p.T212T Q96C55 ZN524_HUMAN zinc finger protein 524 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T212T(1) breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AGGCCAACACGCTCCGGCGCC 0.706000 8 16 1.76689e-08 2.17562e-08 0.006214 1 0 ZAN 7455 broad.mit.edu 37 7 100349490 100349490 + RNA SNP A A G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:100349490A>G ENST00000542585.1 + 0 1910 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.K588E(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACAGTCCCCAAAGAAAAGCC 0.468000 24 99 0 0 0.003330 0 0 DNAH2 146754 broad.mit.edu 37 17 7705029 7705029 + Splice_Site SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:7705029G>A ENST00000572933.1 + 57 10292 c.e57+1 DNAH2_ENST00000389173.2_Splice_Site Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.?(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCAGGAGAATGTGAGcccctc 0.612000 12 83 0 0 0.001855 0 0 GPR150 285601 broad.mit.edu 37 5 94956174 94956174 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:94956174C>T ENST00000380007.2 + 1 393 c.195C>T c.(193-195)tgC>tgT p.C65C NM_199243.1 NP_954713.1 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 65 integral to membrane|plasma membrane G-protein coupled receptor activity p.C65C(1) lung(2) 2 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) CAGTGCTGTGCCGCCTGTgcg 0.736000 8 10 0 0 0.008291 0 0 RGS6 9628 broad.mit.edu 37 14 72924983 72924983 + Missense_Mutation SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr14:72924983A>C ENST00000553530.1 + 5 447 c.240A>C c.(238-240)gaA>gaC p.E80D RGS6_ENST00000556437.1_Missense_Mutation_p.E80D|RGS6_ENST00000434263.2_Missense_Mutation_p.E11D|RGS6_ENST00000553525.1_Missense_Mutation_p.E80D|RGS6_ENST00000404301.2_Missense_Mutation_p.E80D|RGS6_ENST00000406236.4_Missense_Mutation_p.E80D|RGS6_ENST00000355512.6_Missense_Mutation_p.E80D|RGS6_ENST00000407322.4_Missense_Mutation_p.E80D|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.E80D|RGS6_ENST00000402788.2_Missense_Mutation_p.E80D|RGS6_ENST00000343854.6_Missense_Mutation_p.E80D NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 80 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity p.E80D(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTACAGTTGAAGCAATACACT 0.458000 11 85 0 0 0.010729 0 0 IGSF5 150084 broad.mit.edu 37 21 41143096 41143096 + Silent SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:41143096C>A ENST00000380588.4 + 4 775 c.672C>A c.(670-672)gcC>gcA p.A224A IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 224 Ig-like V-type 2. integral to membrane|tight junction p.A224A(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) GCCTGAAGGCCCGCAAGTCTG 0.488000 17 63 1.67942e-08 2.08296e-08 0.006122 1 0 CCKAR 886 broad.mit.edu 37 4 26490990 26490990 + Missense_Mutation SNP T T G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:26490990T>G ENST00000295589.3 - 2 423 c.229A>C c.(229-231)Aac>Cac p.N77H NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 77 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity p.N77H(1) NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGGAAGATGTTGGTGACCGTC 0.537000 18 50 0 0 0.014323 0 0 OR10J1 26476 broad.mit.edu 37 1 159410315 159410315 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:159410315C>T ENST00000423932.3 + 1 804 c.767C>T c.(766-768)aCt>aTt p.T256I RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 256 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.T256I(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCCCACCTCACTGTGGTCATT 0.488000 41 59 0 0 0.009718 0 0 TBC1D32 221322 broad.mit.edu 37 6 121401997 121401997 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:121401997C>G ENST00000275159.6 - 33 3816 c.3817G>C c.(3817-3819)Gaa>Caa p.E1273Q TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.E1232Q TBC1 domain family, member 32 p.E1232Q(1) TCCATGTATTCAAAATAATCA 0.383000 44 44 0 0 0.014410 0 0 DOK2 9046 broad.mit.edu 37 8 21769797 21769797 + Silent SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr8:21769797C>T ENST00000276420.4 - 2 546 c.288G>A c.(286-288)gcG>gcA p.A96A DOK2_ENST00000544659.1_5'UTR NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 96 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding p.A96A(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CTGCAGGGGCCGCCAGGAGGT 0.731000 3 5 0 0 0.009096 0 0 CACNG3 10368 broad.mit.edu 37 16 24268274 24268274 + Missense_Mutation SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr16:24268274T>A ENST00000005284.3 + 1 1401 c.199T>A c.(199-201)Tgc>Agc p.C67S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 67 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.C67S(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GTGGAGGACCTGCTGCCTAGA 0.428000 17 45 0 0 0.006122 0 0 POU5F2 134187 broad.mit.edu 37 5 93076803 93076803 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:93076803C>A ENST00000510627.4 - 1 540 c.467G>T c.(466-468)gGg>gTg p.G156V FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 156 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) AAGCACCTTCCCAAACAGAGC 0.572000 8 36 0.00829132 0.00891971 0.008291 1 0 PLXNA4 91584 broad.mit.edu 37 7 131925827 131925827 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:131925827G>T ENST00000359827.3 - 5 2564 c.1602C>A c.(1600-1602)aaC>aaA p.N534K PLXNA4_ENST00000321063.4_Missense_Mutation_p.N534K Q9HCM2 PLXA4_HUMAN plexin A4 534 PSI 1. integral to membrane|intracellular|plasma membrane p.N534K(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GTACTCACGTGTTGTGCAGCA 0.592000 5 55 0.000602214 0.00066753 0.000602 1 0 PER3 8863 broad.mit.edu 37 1 7890002 7890002 + Silent SNP C C T rs57875989 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:7890002C>T ENST00000377532.3 + 18 3219 c.2995C>T c.(2995-2997)Ctg>Ttg p.L999L PER3_ENST00000361923.2_Silent_p.L990L P56645 PER3_HUMAN period circadian clock 3 990 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.L990L(1) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TGCCAGCGCTCTGTCCACAGG 0.577000 18 76 0 0 0.010504 0 0 CPEB1 64506 broad.mit.edu 37 15 83226624 83226624 + Silent SNP T T A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr15:83226624T>A ENST00000563800.1 - 4 2298 c.573A>T c.(571-573)tcA>tcT p.S191S CPEB1_ENST00000562019.1_Silent_p.S164S|CPEB1_ENST00000564522.1_Silent_p.S89S|CPEB1_ENST00000568757.1_Silent_p.S89S|CPEB1_ENST00000568128.1_Silent_p.S164S|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000398591.2_Silent_p.S89S|CPEB1_ENST00000450751.2_Silent_p.S89S|CPEB1_ENST00000423133.2_Silent_p.S89S|CPEB1_ENST00000261723.6_Silent_p.S167S|RP11-379H8.1_ENST00000568285.1_Intron Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 164 Ser-rich. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding p.S164S(1)|p.S89S(1) breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) ATCCTCTAACTGAGGGTGCTG 0.562000 42 40 0 0 0.014410 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919174 8919174 + Silent SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:8919174C>G ENST00000256707.3 - 19 2647 c.2466G>C c.(2464-2466)gtG>gtC p.V822V KIDINS220_ENST00000473731.1_Silent_p.V822V|KIDINS220_ENST00000319688.5_Silent_p.V823V|KIDINS220_ENST00000427284.1_Silent_p.V822V|KIDINS220_ENST00000418530.1_Silent_p.V780V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 822 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.V822V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AATCCCGAAGCACACTATTGA 0.408000 32 194 0 0 0.012213 0 0 NME5 8382 broad.mit.edu 37 5 137454515 137454515 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:137454515C>A ENST00000265191.2 - 5 596 c.547G>T c.(547-549)Gat>Tat p.D183Y NM_003551.2 NP_003542.1 P56597 NDK5_HUMAN NME/NM23 family member 5 183 anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process ATP binding|nucleoside diphosphate kinase activity|protein binding p.D183Y(1) kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACCAAAGGATCTGCTGGTTTT 0.433000 11 72 0.000673444 0.000740064 0.008291 1 0 LPPR5 163404 broad.mit.edu 37 1 99418635 99418635 + Missense_Mutation SNP C C T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:99418635C>T ENST00000370188.3 - 3 972 c.612G>A c.(610-612)atG>atA p.M204I LPPR5_ENST00000263177.4_Missense_Mutation_p.M204I NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 204 integral to membrane hydrolase activity p.M204I(1) CGGTCAGATACATAGCTGCAT 0.393000 15 66 0 0 0.004007 0 0 TENM2 57451 broad.mit.edu 37 5 167489128 167489128 + Missense_Mutation SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:167489128C>G ENST00000519204.1 + 6 1128 c.1010C>G c.(1009-1011)aCa>aGa p.T337R TENM2_ENST00000520394.1_Missense_Mutation_p.T226R|TENM2_ENST00000545108.1_Missense_Mutation_p.T458R|TENM2_ENST00000403607.2_Missense_Mutation_p.T291R|TENM2_ENST00000518659.1_Missense_Mutation_p.T458R teneurin transmembrane protein 2 p.T337R(1)|p.T458R(1)|p.T291R(1) CGGCGGGTAACACAAGAAGTC 0.468000 10 14 0 0 0.010729 0 0 CYLC2 1539 broad.mit.edu 37 9 105767378 105767378 + Silent SNP A A T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:105767378A>T ENST00000374798.3 + 5 535 c.465A>T c.(463-465)ctA>ctT p.L155L CYLC2_ENST00000487798.1_Silent_p.L155L NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 155 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.D156Y(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) aagaaaagctagatgcaaaga 0.358000 20 9 0 0 0.007413 0 0 DBN1 1627 broad.mit.edu 37 5 176885479 176885479 + Silent SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr5:176885479G>A ENST00000292385.5 - 13 1971 c.1362C>T c.(1360-1362)acC>acT p.T454T DBN1_ENST00000393563.4_Silent_p.T184T|DBN1_ENST00000512501.1_Silent_p.T184T|DBN1_ENST00000309007.5_Silent_p.T452T|DBN1_ENST00000393565.1_Silent_p.T498T NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 452 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding p.T454T(1)|p.T452T(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTTTCAATGGTGTCAGCTG 0.607000 38 80 0 0 0.014410 0 0 ASB15 142685 broad.mit.edu 37 7 123269175 123269175 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr7:123269175C>A ENST00000451558.1 + 12 1648 c.1127C>A c.(1126-1128)cCa>cAa p.P376Q ASB15_ENST00000540573.1_Missense_Mutation_p.P376Q|ASB15_ENST00000451215.1_Missense_Mutation_p.P376Q|ASB15_ENST00000275699.3_Missense_Mutation_p.P376Q|ASB15_ENST00000434204.1_Missense_Mutation_p.P376Q Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 376 intracellular signal transduction p.P376Q(1) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GGTGCAGACCCAAACTTAGAT 0.453000 16 142 3.41278e-10 4.40387e-10 0.004990 1 0 UBQLN1 29979 broad.mit.edu 37 9 86278912 86278912 + Nonsense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:86278912C>A ENST00000376395.4 - 10 2018 c.1495G>T c.(1495-1497)Gga>Tga p.G499* UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.G471* NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 499 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding p.G499*(1) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 CCATTAGTTCCCGAAGAGCCT 0.493000 80 70 7.68447e-34 1.38755e-33 0.014410 1 0 PCDH17 27253 broad.mit.edu 37 13 58299073 58299073 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:58299073C>A ENST00000377918.3 + 4 3151 c.3125C>A c.(3124-3126)gCg>gAg p.A1042E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1042 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.A1042E(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAACCAAGGCGTGCATCGAG 0.532000 21 43 9.95505e-16 1.50504e-15 0.014323 1 0 OTOGL 283310 broad.mit.edu 37 12 80752535 80752535 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr12:80752535G>T ENST00000458043.2 + 50 6185 c.6179G>T c.(6178-6180)tGt>tTt p.C2060F OTOGL_ENST00000546620.1_Missense_Mutation_p.C79F|OTOGL_ENST00000547103.1_Missense_Mutation_p.C2048F NM_173591.3 NP_775862.3 otogelin-like p.C425F(1)|p.C2060F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCTGGTCAATGTTGCCCAACA 0.294000 19 9 2.37509e-13 3.41879e-13 0.010504 1 0 DOCK3 1795 broad.mit.edu 37 3 51264852 51264852 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:51264852C>A ENST00000266037.9 + 16 1539 c.1516C>A c.(1516-1518)Cgc>Agc p.R506S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 506 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.R495S(1)|p.R506S(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CTCCCACCTGCGCTTTGAGTT 0.468000 31 34 3.11337e-16 4.74906e-16 0.013726 1 0 OR5M9 390162 broad.mit.edu 37 11 56230498 56230498 + Missense_Mutation SNP G G T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:56230498G>T ENST00000279791.1 - 1 379 c.380C>A c.(379-381)cCt>cAt p.P127H NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P127H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) ATAAAGCAGAGGGTTGCAGCC 0.493000 19 77 9.90768e-06 1.15326e-05 0.004656 1 0 PALMD 54873 broad.mit.edu 37 1 100154432 100154432 + Missense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr1:100154432G>A ENST00000263174.4 + 7 991 c.616G>A c.(616-618)Gga>Aga p.G206R PALMD_ENST00000605497.1_Missense_Mutation_p.G206R NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 206 regulation of cell shape cytoplasm|membrane p.G206R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TAAAGGTACAGGAATAAAAGT 0.393000 21 74 0 0 0.003330 0 0 MGAT5 4249 broad.mit.edu 37 2 135075164 135075164 + Frame_Shift_Del DEL G G - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:135075164delG ENST00000409645.1 + 4 723 c.471delG c.(469-471)gafs p.E157fs MGAT5_ENST00000281923.2_Frame_Shift_Del_p.E157fs Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 157 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CTCACTGTGAGGGAAAGATCA 0.438 14 37 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141128282 141128282 + Frame_Shift_Del DEL T T - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:141128282delT ENST00000389484.3 - 71 11976 c.11005delA c.(11005-11007)gafs p.R3669fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3669 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTTACCTCTTTCACAGTTC 0.403 TSP Lung(27;0.18) 94 173 --- --- --- --- KCNH7 90134 broad.mit.edu 37 2 163279808 163279808 + Frame_Shift_Del DEL C C - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr2:163279808delC ENST00000328032.4 - 8 2382 c.2171delG c.(2170-2172)gcfs p.G724fs KCNH7_ENST00000332142.5_Intron NM_173162.2 NP_775185.1 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 0 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CACTATAATGCCTGCGGCACT 0.423 59 112 --- --- --- --- ILDR1 286676 broad.mit.edu 37 3 121712106 121712106 + Frame_Shift_Del DEL C C - rs146620043 TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:121712106delC ENST00000273691.3 - 6 1463 c.1358delG c.(1357-1359)ccfs p.R453fs ILDR1_ENST00000393631.1_Frame_Shift_Del_p.R408fs|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Frame_Shift_Del_p.R465fs|ILDR1_ENST00000344209.5_Frame_Shift_Del_p.R497fs NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 497 Arg-rich. R -> Q (in DFNB42; uncertain pathological significance). cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GTGCGAGCCGCGGCGGTGGGC 0.632 20 17 --- --- --- --- PIK3R4 30849 broad.mit.edu 37 3 130463531 130463549 + Frame_Shift_Del DEL CTTCTGGAAGATAAGTGGG CTTCTGGAAGATAAGTGGG - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr3:130463531_130463549delCTTCTGGAAGATAAGTGGG ENST00000356763.3 - 2 1071_1089 c.514_532delCCCACTTATCTTCCAGAAG c.(514-534)acfs p.PTYLPED172fs NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 172 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.T173T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GCCGGGTTGTCTTCTGGAAGATAAGTGGGCTTAAAACTG 0.434 15 87 --- --- --- --- SPOCK3 50859 broad.mit.edu 37 4 167663162 167663163 + Frame_Shift_Ins INS - - C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr4:167663162_167663163insC ENST00000357154.3 - 10 1125_1126 c.988_989insG c.(988-990)aaafs p.K330fs SPOCK3_ENST00000511531.1_Frame_Shift_Ins_p.K330fs|SPOCK3_ENST00000504953.1_Frame_Shift_Ins_p.K327fs|SPOCK3_ENST00000511269.1_Frame_Shift_Ins_p.K327fs|SPOCK3_ENST00000541354.1_Frame_Shift_Ins_p.K210fs|SPOCK3_ENST00000535728.1_Frame_Shift_Ins_p.K198fs|SPOCK3_ENST00000502330.1_Frame_Shift_Ins_p.K330fs|SPOCK3_ENST00000534949.1_Frame_Shift_Ins_p.K234fs|SPOCK3_ENST00000510741.1_Frame_Shift_Ins_p.K287fs|SPOCK3_ENST00000357545.4_Frame_Shift_Ins_p.K327fs|SPOCK3_ENST00000541637.1_Frame_Shift_Ins_p.K232fs|SPOCK3_ENST00000421836.2_Frame_Shift_Ins_p.K279fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Frame_Shift_Ins_p.K330fs|SPOCK3_ENST00000512681.1_Frame_Shift_Ins_p.K232fs NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 330 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GAGCTTCTTTACCCCTTGCCGC 0.376 19 90 --- --- --- --- DEFB112 245915 broad.mit.edu 37 6 50016286 50016286 + Frame_Shift_Del DEL C C - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:50016286delC ENST00000322246.4 - 1 78 c.79delG c.(79-81)aafs p.E27fs NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 27 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) CGGGCCTTTTCAAATATTGTG 0.318 49 64 --- --- --- --- GCLC 2729 broad.mit.edu 37 6 53372308 53372311 + Frame_Shift_Del DEL TATC TATC - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr6:53372308_53372311delTATC ENST00000229416.6 - 9 1534_1537 c.1051_1054delGATA c.(1051-1056)aafs p.DK351fs NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 351 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TAGATCTCTTTATCTATCGTCAAG 0.373 63 132 --- --- --- --- PKN3 29941 broad.mit.edu 37 9 131467820 131467820 + Frame_Shift_Del DEL C C - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr9:131467820delC ENST00000291906.4 + 2 656 c.263delC c.(262-264)gtfs p.A88fs NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 88 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CCTGGCCCAGCTGGTGAGTGA 0.692 2 4 --- --- --- --- PRR5L 79899 broad.mit.edu 37 11 36484020 36484021 + Frame_Shift_Ins INS - - T TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr11:36484020_36484021insT ENST00000378867.3 + 10 1196_1197 c.841_842insT c.(841-843)ggafs p.G281fs PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.G281fs|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.G208fs NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 281 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GGAAGCCTACCTGGAGAAGTGT 0.634 40 30 --- --- --- --- CSNK1A1L 122011 broad.mit.edu 37 13 37679171 37679171 + Frame_Shift_Del DEL G G - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr13:37679171delG ENST00000379800.3 - 1 632 c.223delC c.(223-225)acfs p.H75fs NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 75 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CAGTGCATGTGGGGGATGCCA 0.493 34 195 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7749462 7749462 + Frame_Shift_Del DEL C C - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:7749462delC ENST00000254846.5 + 6 692 c.303delC c.(301-303)ctfs p.L101fs KDM6B_ENST00000448097.2_Frame_Shift_Del_p.L101fs NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 101 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 AGGCATTGCTCCGGGAGCCAG 0.637 20 52 --- --- --- --- KRT14 3861 broad.mit.edu 37 17 39742827 39742827 + Frame_Shift_Del DEL C C - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:39742827delC ENST00000167586.6 - 1 346 c.260delG c.(259-261)gafs p.G87fs NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 87 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) accaccatatcctcccccaaa 0.637 13 28 --- --- --- --- TANC2 26115 broad.mit.edu 37 17 61432309 61432309 + Frame_Shift_Del DEL G G - TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr17:61432309delG ENST00000424789.2 + 12 1922 c.1918delG c.(1918-1920)gcfs p.G640fs TANC2_ENST00000389520.4_Frame_Shift_Del_p.G640fs NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 640 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TACTACATTTGGCAAACTCAG 0.423 33 209 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f49fc77e-03cd-423c-b3e1-18bb19568650 cd39ef64-de54-4f7b-abd8-5bee411ce8dd g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 4 3 --- --- --- ---