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 C9orf129 445577 broad.mit.edu 37 9 96080730 96080730 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:96080730G>A ENST00000375419.1 - 5 904 c.541C>T c.(541-543)Ccg>Tcg p.P181S WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron NM_001098808.1 NP_001092278.1 Q5T035 CI129_HUMAN chromosome 9 open reading frame 129 181 endometrium(2)|large_intestine(1)|lung(1)|ovary(2) 6 CACACTGGCGGAGCTGCTTGC 0.612000 8 86 0 0 0.006214 0 0 PRKCH 5583 broad.mit.edu 37 14 61997242 61997242 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:61997242G>A ENST00000332981.5 + 12 2075 c.1690G>A c.(1690-1692)Gag>Aag p.E564K PRKCH_ENST00000555082.1_Missense_Mutation_p.E403K|RP11-47I22.4_ENST00000556347.1_Silent_p.L68L NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 564 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGACCTCTTTGAGGCCATACT 0.522000 12 86 0 0 0.001855 0 0 DNAH7 56171 broad.mit.edu 37 2 196740445 196740445 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:196740445C>A ENST00000312428.6 - 38 6340 c.6240G>T c.(6238-6240)atG>atT p.M2080I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2080 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTAGTTTAATCATGGAACAAT 0.418000 9 32 3.09899e-07 4.02868e-07 0.004482 1 0 ABCC6 368 broad.mit.edu 37 16 16302622 16302622 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:16302622C>G ENST00000205557.7 - 7 786 c.757G>C c.(757-759)Gaa>Caa p.E253Q ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 253 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CACTCCTTTTCAAGCCGGGAA 0.542000 9 85 0 0 0.004482 0 0 RLIM 51132 broad.mit.edu 37 X 73811920 73811920 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:73811920C>G ENST00000332687.6 - 4 1448 c.1230G>C c.(1228-1230)atG>atC p.M410I RLIM_ENST00000349225.2_Missense_Mutation_p.M410I NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 410 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAAAACCTGTCATTATCTGCC 0.408000 8 91 0 0 0.004482 0 0 CARKD 55739 broad.mit.edu 37 13 111290831 111290831 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:111290831A>T ENST00000309957.2 + 10 1150 c.1136A>T c.(1135-1137)gAt>gTt p.D379V CARKD_ENST00000458711.2_Missense_Mutation_p.I203F|CARKD_ENST00000424185.2_Missense_Mutation_p.I224F|CARKD_ENST00000470164.2_3'UTR NM_001242881.1|NM_018210.3 NP_001229810.1|NP_060680.2 Q8IW45 CARKD_HUMAN carbohydrate kinase domain containing 0 NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 CTCCGACATGATCGCCGAGGT 0.632000 15 64 0 0 0.004007 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383245 41383245 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:41383245C>G ENST00000301146.4 - 7 1552 c.1011G>C c.(1009-1011)aaG>aaC p.K337N CYP2A7_ENST00000291764.3_Missense_Mutation_p.K286N|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 337 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GCTGCCGGTTCTTGCCGATCA 0.532000 6 59 0 0 0.004482 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763244 5763244 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:5763244G>C ENST00000414202.2 + 19 2408 c.2217G>C c.(2215-2217)ctG>ctC p.L739L KIAA1432_ENST00000251879.6_Silent_p.L739L|KIAA1432_ENST00000449720.2_Silent_p.L623L|KIAA1432_ENST00000418622.3_Silent_p.L660L|KIAA1432_ENST00000381532.2_Silent_p.L660L NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 739 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCCTCTGGCTGAGCTGTGGTG 0.532000 5 114 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70805797 70805797 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:70805797A>T ENST00000358731.4 + 17 3141 c.2878A>T c.(2878-2880)Act>Tct p.T960S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 960 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 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) TTTGAAAGCAACTGGAAATGA 0.428000 17 59 0 0 0.004007 0 0 OR2L13 284521 broad.mit.edu 37 1 248263108 248263108 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248263108T>C ENST00000366478.2 + 3 768 c.431T>C c.(430-432)aTt>aCt p.I144T OR2L13_ENST00000358120.2_Missense_Mutation_p.I144T NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTGAAGATGATTGGAGGCTCT 0.488000 26 206 0 0 0.003954 0 0 CD180 4064 broad.mit.edu 37 5 66479858 66479858 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:66479858G>C ENST00000256447.4 - 3 970 c.813C>G c.(811-813)ctC>ctG p.L271L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 271 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) ACATTTCACAGAGTCCCTTGA 0.463000 5 59 0 0 0.000602 0 0 EGFL8 80864 broad.mit.edu 37 6 32134567 32134567 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:32134567C>A ENST00000395512.1 + 4 419 c.314C>A c.(313-315)cCg>cAg p.P105Q PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.P105Q Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 105 EMI. extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 AAGCGGCACCCGGGGGCGCTC 0.667000 3 43 0.004672 0.00515013 0.004672 1 0 IGKV1-9 28941 broad.mit.edu 37 2 89309562 89309562 + RNA SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:89309562C>T ENST00000493819.1 - 0 325 AATTCTGTCCCAGATCCACTG 0.478000 23 198 0 0 0.012319 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:31237922G>C ENST00000251758.5 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 3 14 0 0 0.009096 0 0 HUWE1 10075 broad.mit.edu 37 X 53591666 53591666 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:53591666C>G ENST00000342160.3 - 50 7355 c.6898G>C c.(6898-6900)Gaa>Caa p.E2300Q HUWE1_ENST00000262854.6_Missense_Mutation_p.E2300Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2300 Glu-rich. 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 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 TCCTGCACTTCTGCTTCCCCA 0.517000 5 107 0 0 0.001984 0 0 CD93 22918 broad.mit.edu 37 20 23066051 23066051 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:23066051G>A ENST00000246006.4 - 1 926 c.779C>T c.(778-780)cCc>cTc p.P260L NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 260 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCATACTTGGGGCTGACACA 0.602000 14 172 0 0 0.002450 0 0 USP26 83844 broad.mit.edu 37 X 132160973 132160973 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:132160973C>G ENST00000511190.1 - 6 1745 c.1276G>C c.(1276-1278)Gac>Cac p.D426H USP26_ENST00000370832.1_Missense_Mutation_p.D426H|USP26_ENST00000406273.1_Missense_Mutation_p.D426H NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 426 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CCACTGGTGTCAGGATCATCA 0.378000 11 80 0 0 0.008291 0 0 ABLIM3 22885 broad.mit.edu 37 5 148632354 148632354 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:148632354G>A ENST00000506113.1 + 22 2374 c.1892G>A c.(1891-1893)aGa>aAa p.R631K ABLIM3_ENST00000309868.7_Missense_Mutation_p.R631K|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R598K|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R117K|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R536K|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R520K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R520K|AC012613.2_ENST00000523176.1_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 631 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACTACAAGAGGAAGAAAC 0.488000 5 75 0 0 0.000602 0 0 PDZD2 23037 broad.mit.edu 37 5 32010523 32010523 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:32010523G>A ENST00000438447.1 + 6 1730 c.1342G>A c.(1342-1344)Gat>Aat p.D448N PDZD2_ENST00000282493.3_Missense_Mutation_p.D448N O15018 PDZD2_HUMAN PDZ domain containing 2 448 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCCTGGACTGATAACGAAGA 0.532000 8 76 0 0 0.003080 0 0 PFKL 5211 broad.mit.edu 37 21 45741720 45741720 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:45741720G>T ENST00000403390.1 + 14 1441 c.1441G>T c.(1441-1443)Gtg>Ttg p.V481L PFKL_ENST00000349048.4_Missense_Mutation_p.V434L P17858 K6PL_HUMAN phosphofructokinase, liver 434 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CACAGTATACGTGGTGCACGA 0.647000 19 85 5.03518e-11 7.03061e-11 0.007413 1 0 SSPO 23145 broad.mit.edu 37 7 149528279 149528279 + RNA SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:149528279G>T ENST00000378016.2 + 0 15198 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCACCAAAGGGACCTGTTACC 0.617000 4 24 1.23904e-05 1.53153e-05 0.000602 1 0 HSF2 3298 broad.mit.edu 37 6 122744757 122744757 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:122744757G>C ENST00000452194.1 + 10 1289 c.1102G>C c.(1102-1104)Gac>Cac p.D368H HSF2_ENST00000368455.4_Missense_Mutation_p.D368H|HSF2_ENST00000465214.1_3'UTR NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 368 Hydrophobic repeat HR-C. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TGACAGTATTGACTGCAGTTT 0.343000 7 61 0 0 0.004482 0 0 RBMX 27316 broad.mit.edu 37 X 135960088 135960088 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:135960088C>A ENST00000562646.1 - 4 528 c.374G>T c.(373-375)cGg>cTg p.R125L RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.R125L|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 125 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GTGTCCTCCCCGTGAGGGAGG 0.547000 7 76 8.12818e-05 9.63624e-05 0.001984 1 0 RASAL2 9462 broad.mit.edu 37 1 178421649 178421649 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:178421649C>G ENST00000448150.3 + 11 2635 c.1817C>G c.(1816-1818)tCa>tGa p.S606* RASAL2_ENST00000462775.1_Nonsense_Mutation_p.S476*|RASAL2_ENST00000367649.3_Nonsense_Mutation_p.S624* NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 476 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ATCAGTGCCTCATTATTTCTC 0.478000 10 200 0 0 0.006214 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600659 232600659 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:232600659C>G ENST00000366630.1 - 8 3105 c.2747G>C c.(2746-2748)aGa>aCa p.R916T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R916T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 916 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACATTCTCCTCTTTCGTAAAA 0.413000 4 53 0 0 0.000602 0 0 KIAA1045 23349 broad.mit.edu 37 9 34977173 34977173 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:34977173G>C ENST00000242315.3 + 6 1025 c.943G>C c.(943-945)Gag>Cag p.E315Q KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E315Q NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 315 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CAGTGAGGCAGAGTGCCGCCG 0.632000 8 104 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141680547 141680547 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:141680547G>T ENST00000389484.3 - 21 4277 c.3306C>A c.(3304-3306)tcC>tcA p.S1102S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1102 LDL-receptor class A 9. 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) TACTCCAACAGGAAAACTTGG 0.438000 TSP Lung(27;0.18) 7 41 5.18039e-06 6.44557e-06 0.003080 1 0 LRRC8C 84230 broad.mit.edu 37 1 90180404 90180404 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:90180404G>A ENST00000370454.4 + 3 2530 c.2275G>A c.(2275-2277)Gta>Ata p.V759I RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 759 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTACTTAGATGTAAAAGGTAA 0.393000 5 55 0 0 0.000602 0 0 CDH10 1008 broad.mit.edu 37 5 24498546 24498546 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:24498546G>T ENST00000264463.4 - 9 1983 c.1476C>A c.(1474-1476)ttC>ttA p.F492L CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 492 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AAGTGTCATAGAACACAGCAA 0.398000 HNSCC(23;0.051) 8 39 3.09899e-07 4.02868e-07 0.004482 1 0 TCEAL5 340543 broad.mit.edu 37 X 102529098 102529098 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:102529098G>A ENST00000372680.1 - 3 688 c.394C>T c.(394-396)Cag>Tag p.Q132* NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 AAGTCCTCCTGAGAGTCCTTG 0.532000 6 166 0 0 0.001984 0 0 BTBD9 114781 broad.mit.edu 37 6 38562074 38562074 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:38562074G>C ENST00000481247.1 - 3 366 c.215C>G c.(214-216)tCt>tGt p.S72C BTBD9_ENST00000408958.1_Missense_Mutation_p.S4C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S13C|BTBD9_ENST00000403056.1_Missense_Mutation_p.S72C|BTBD9_ENST00000314100.6_Missense_Mutation_p.S4C NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 72 BTB. cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 TTCAGGCTGAGACTCTCGCAT 0.428000 6 68 0 0 0.001168 0 0 U2AF2 11338 broad.mit.edu 37 19 56180086 56180086 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:56180086C>G ENST00000450554.2 + 9 1832 c.873C>G c.(871-873)gtC>gtG p.V291V U2AF2_ENST00000590551.1_Silent_p.V127V|U2AF2_ENST00000308924.4_Silent_p.V291V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 291 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCAACCTGGTCAAGGACAGTG 0.632000 9 65 0 0 0.008291 0 0 PRAM1 84106 broad.mit.edu 37 19 8563881 8563881 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:8563881T>C ENST00000423345.4 - 2 1331 c.811A>G c.(811-813)Aaa>Gaa p.K271E PRAM1_ENST00000255612.3_Missense_Mutation_p.K271E Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 319 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GAGGCCTTTTTGGGAAAGGCG 0.632000 14 40 0 0 0.002450 0 0 CCL16 6360 broad.mit.edu 37 17 34304721 34304721 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:34304721C>T ENST00000293275.3 - 3 319 c.244G>A c.(244-246)Gac>Aac p.D82N NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 82 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGACCCAGTCGTCATTGGGG 0.522000 8 110 0 0 0.004482 0 0 WNK1 65125 broad.mit.edu 37 12 1006841 1006841 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:1006841C>T ENST00000537687.1 + 25 7865 c.7222C>T c.(7222-7224)Ctt>Ttt p.L2408F WNK1_ENST00000535572.1_Missense_Mutation_p.L1900F|WNK1_ENST00000530271.2_Missense_Mutation_p.L2646F|WNK1_ENST00000315939.6_Missense_Mutation_p.L2148F|WNK1_ENST00000340908.4_Missense_Mutation_p.L1741F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2148 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAGCCCCCAGCTTTCAGGTAA 0.488000 3 25 0 0 0.004672 0 0 PAK7 57144 broad.mit.edu 37 20 9561232 9561232 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:9561232C>T ENST00000378429.3 - 5 1096 c.550G>A c.(550-552)Gag>Aag p.E184K PAK7_ENST00000378423.1_Missense_Mutation_p.E184K|PAK7_ENST00000353224.5_Missense_Mutation_p.E184K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 184 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTTCACCTCAGAATAGTAG 0.458000 12 117 0 0 0.001368 0 0 DDX4 54514 broad.mit.edu 37 5 55083796 55083796 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:55083796G>A ENST00000505374.1 + 15 1232 c.1140G>A c.(1138-1140)caG>caA p.Q380Q DDX4_ENST00000353507.5_Silent_p.Q346Q|DDX4_ENST00000511853.1_Silent_p.Q231Q|DDX4_ENST00000354991.5_Silent_p.Q346Q|DDX4_ENST00000514278.2_Silent_p.Q360Q NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 380 Helicase ATP-binding. Q -> K (in Ref. 5; AAH47455). multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGTCAACCAGATTTATTTGG 0.373000 3 28 0 0 0.009096 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53977961 53977961 + Missense_Mutation SNP G G C rs139014010 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:53977961G>C ENST00000263634.3 - 3 448 c.314C>G c.(313-315)cCt>cGt p.P105R ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P143R|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P32R|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P32R|ASB3_ENST00000406625.2_Missense_Mutation_p.P140R|GPR75-ASB3_ENST00000482829.1_5'UTR NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 140 intracellular signal transduction AGTTGCATTAGGATCTGCCCC 0.353000 9 45 0 0 0.006214 0 0 CNTRL 11064 broad.mit.edu 37 9 123919802 123919802 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:123919802G>C ENST00000373855.1 + 28 4680 c.4420G>C c.(4420-4422)Gag>Cag p.E1474Q CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1474Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E922Q Q7Z7A1 CNTRL_HUMAN centriolin 1474 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATTGCAAACTGAGTCAGATGC 0.408000 4 41 0 0 0.009096 0 0 CHD1L 9557 broad.mit.edu 37 1 146756095 146756095 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:146756095G>C ENST00000369258.4 + 16 1797 c.1777G>C c.(1777-1779)Gaa>Caa p.E593Q CHD1L_ENST00000361293.5_Missense_Mutation_p.E312Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E389Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E499Q|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 593 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) AAAATCATTTGAACAACTGGT 0.333000 8 88 0 0 0.006214 0 0 LCT 3938 broad.mit.edu 37 2 136547323 136547323 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:136547323G>A ENST00000264162.2 - 16 5391 c.5381C>T c.(5380-5382)gCg>gTg p.A1794V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1794 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATTGTCCATCGCACTCCAAAC 0.483000 13 128 0 0 0.001368 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604343 140604343 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140604343C>A ENST00000239449.4 + 1 1266 c.1266C>A c.(1264-1266)acC>acA p.T422T PCDHB14_ENST00000515856.2_Silent_p.T269T NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 422 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACGATCACCGTCACAGACT 0.498000 10 141 0.00621372 0.00682965 0.006214 1 0 MGA 23269 broad.mit.edu 37 15 42041375 42041375 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:42041375C>T ENST00000219905.7 + 17 5751 c.5570C>T c.(5569-5571)tCg>tTg p.S1857L MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L|MGA_ENST00000545763.1_Missense_Mutation_p.S1648L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1818 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTCCACTTCGTCCTCTGCT 0.443000 6 81 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047735 42047735 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:42047735C>G ENST00000372584.1 - 3 3748 c.2734G>C c.(2734-2736)Gag>Cag p.E912Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.E912Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E912Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E912Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 912 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGGCCATCTCTGCCAGGCGC 0.592000 8 127 0 0 0.003080 0 0 SRGAP1 57522 broad.mit.edu 37 12 64437229 64437229 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:64437229A>G ENST00000355086.3 + 6 1199 c.675A>G c.(673-675)agA>agG p.R225R RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.R225R|SRGAP1_ENST00000543397.1_Silent_p.R185R NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 225 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CATTCCAGAGACAAGCAAAAT 0.333000 4 21 0 0 0.009096 0 0 MMP19 4327 broad.mit.edu 37 12 56232375 56232375 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:56232375G>A ENST00000409200.3 - 5 769 c.664C>T c.(664-666)Ctc>Ttc p.L222F MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 0 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 ACAGCCTGGAGGGGAGGGGCC 0.617000 7 53 0 0 0.001984 0 0 AR 367 broad.mit.edu 37 X 66863140 66863140 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:66863140C>G ENST00000374690.3 + 2 2183 c.1659C>G c.(1657-1659)taC>taG p.Y553* AR_ENST00000504326.1_Nonsense_Mutation_p.Y553*|AR_ENST00000396044.3_Nonsense_Mutation_p.Y553*|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Nonsense_Mutation_p.Y21* NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 552 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGACTATTACTTTCCACCCC 0.468000 Androgen Insensitivity Syndrome 7 58 0 0 0.003080 0 0 BBS1 582 broad.mit.edu 37 11 66282012 66282012 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:66282012C>T ENST00000419755.3 + 4 484 c.406C>T c.(406-408)Ccc>Tcc p.P136S BBS1_ENST00000537537.1_Silent_p.S2S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.P99S|BBS1_ENST00000455748.2_Missense_Mutation_p.P99S|BBS1_ENST00000393994.2_Missense_Mutation_p.P99S GCAACATGAGCCCCGGACCCC 0.572000 13 184 0 0 0.001855 0 0 EPHA8 2046 broad.mit.edu 37 1 22915468 22915468 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:22915468T>C ENST00000166244.3 + 5 1156 c.1084T>C c.(1084-1086)Tac>Cac p.Y362H EPHA8_ENST00000374644.4_Missense_Mutation_p.Y362H|EPHA8_ENST00000538803.1_Missense_Mutation_p.Y362H NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 362 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGACATCACCTACAATGCCGT 0.657000 4 27 0 0 0.000602 0 0 TREM2 54209 broad.mit.edu 37 6 41126515 41126515 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:41126515A>C ENST00000373113.3 - 5 773 c.680T>G c.(679-681)cTg>cGg p.L227R TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000338469.3_Silent_p.A162A NM_018965.2 NP_061838.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 227 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) CGTGTCTCTCAGCCCTGCAAT 0.617000 10 93 0 0 0.006214 0 0 GPR98 84059 broad.mit.edu 37 5 89985761 89985761 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:89985761G>C ENST00000405460.2 + 30 6670 c.6574G>C c.(6574-6576)Gat>Cat p.D2192H NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2192 Calx-beta 15. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTCATTAATGATATCTATCC 0.393000 5 20 0 0 0.000602 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432960 140432960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140432960C>G ENST00000306549.3 + 1 1982 c.1905C>G c.(1903-1905)gaC>gaG p.D635E NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 635 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAGAGAGACCCCATGATGC 0.428000 7 107 0 0 0.004482 0 0 PDE3B 5140 broad.mit.edu 37 11 14865513 14865513 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:14865513C>A ENST00000282096.4 + 12 2814 c.2461C>A c.(2461-2463)Cat>Aat p.H821N PDE3B_ENST00000455098.2_Missense_Mutation_p.H770N NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 821 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGCTGCCATGCATGATTATGA 0.418000 23 62 1.42536e-11 2.01258e-11 0.004656 1 0 ALG13 79868 broad.mit.edu 37 X 110951607 110951607 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:110951607G>T ENST00000394780.3 + 4 748 c.736G>T c.(736-738)Gcc>Tcc p.A246S ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.A142S NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 246 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CCTCTTTCGGGCCATTTCGGA 0.448000 12 146 7.93312e-07 1.02424e-06 0.002450 1 0 ADCK2 90956 broad.mit.edu 37 7 140390572 140390572 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:140390572A>C ENST00000072869.4 + 7 1877 c.1699A>C c.(1699-1701)Agc>Cgc p.S567R ADCK2_ENST00000476491.1_Missense_Mutation_p.S567R NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 567 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TCATGTGTCCAGCCTTCTCTC 0.547000 26 293 0 0 0.006320 0 0 OR5B21 219968 broad.mit.edu 37 11 58275352 58275352 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:58275352G>A ENST00000360374.2 - 1 226 c.227C>T c.(226-228)gCc>gTc p.A76V NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CGTTTTGGGGGCTACAGCTGA 0.507000 6 54 0 0 0.003080 0 0 F8 2157 broad.mit.edu 37 X 154221309 154221309 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:154221309G>A ENST00000360256.4 - 4 703 c.503C>T c.(502-504)tCt>tTt p.S168F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 168 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAGTGGGTCAGAGGCCATTGG 0.463000 16 193 0 0 0.006122 0 0 MBOAT2 129642 broad.mit.edu 37 2 9008594 9008594 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:9008594C>G ENST00000305997.3 - 9 1167 c.969G>C c.(967-969)ttG>ttC p.L323F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 323 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGAATTCTCAAATTGGAAA 0.363000 8 58 0 0 0.003080 0 0 C19orf43 79002 broad.mit.edu 37 19 12842184 12842184 + Missense_Mutation SNP C C A rs11542951 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:12842184C>A ENST00000242784.4 - 2 514 c.397G>T c.(397-399)Gcc>Tcc p.A133S C19orf43_ENST00000588213.1_Missense_Mutation_p.S125I|C19orf43_ENST00000592273.1_Intron NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 133 endometrium(2)|large_intestine(2) 4 TGCTTCTTGGCTACTATTCCC 0.597000 11 58 3.07112e-06 3.88527e-06 0.010729 1 0 FIGN 55137 broad.mit.edu 37 2 164468312 164468312 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:164468312C>G ENST00000333129.3 - 3 344 c.30G>C c.(28-30)ttG>ttC p.L10F FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 10 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 ACTGCATCTTCAAGCCTAAGA 0.443000 3 42 0 0 0.004672 0 0 SDK2 54549 broad.mit.edu 37 17 71427671 71427671 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:71427671C>T ENST00000392650.3 - 11 1450 c.1450G>A c.(1450-1452)Gat>Aat p.D484N SDK2_ENST00000388726.3_Missense_Mutation_p.D484N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 484 Ig-like C2-type 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAGGCCTCATCGACCCCCCGA 0.597000 19 172 0 0 0.010504 0 0 BICC1 80114 broad.mit.edu 37 10 60566792 60566792 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:60566792G>A ENST00000373886.3 + 17 2254 c.2250G>A c.(2248-2250)gaG>gaA p.E750E BICC1_ENST00000263103.1_Silent_p.E376E NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 750 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TGGTGACGGAGGTCAGAACGC 0.398000 7 48 0 0 0.003080 0 0 STK11 6794 broad.mit.edu 37 19 1218415 1218415 + Splice_Site SNP G G T rs112675807 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:1218415G>T ENST00000326873.7 + 2 1463 c.e2-1 STK11_ENST00000585748.1_Splice_Site NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGTCCCAGGGAAATTCAA 0.522000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 23 106 3.62473e-10 4.98731e-10 0.012319 1 0 PCDH9 5101 broad.mit.edu 37 13 67801390 67801390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:67801390C>A ENST00000544246.1 - 2 1874 c.1183G>T c.(1183-1185)Gtg>Ttg p.V395L PCDH9_ENST00000456367.1_Missense_Mutation_p.V395L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V395L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V395L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V395L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 395 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTGCCATTCACATCTGTGTCC 0.373000 4 82 0.00909568 0.00985365 0.009096 1 0 MUC16 94025 broad.mit.edu 37 19 9061796 9061796 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9061796C>T ENST00000397910.4 - 3 25853 c.25650G>A c.(25648-25650)ccG>ccA p.P8550P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8552 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGAAGGCTCGGCCATGGCA 0.498000 5 42 0 0 0.000602 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422873 37422873 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:37422873G>A ENST00000374660.1 + 5 578 c.479G>A c.(478-480)gGa>gAa p.G160E ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 216 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTATGTCATGGATCATCAGAG 0.378000 11 137 0 0 0.001368 0 0 GPR176 11245 broad.mit.edu 37 15 40093560 40093560 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:40093560C>A ENST00000299092.3 - 4 1516 c.1318G>T c.(1318-1320)Gaa>Taa p.E440* GPR176_ENST00000561100.1_Nonsense_Mutation_p.E441*|GPR176_ENST00000543580.1_Nonsense_Mutation_p.E396* NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 441 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GTTTCAGGTTCCACAGGGGCT 0.592000 6 140 0.00116845 0.00130713 0.001168 1 0 SI 6476 broad.mit.edu 37 3 164757724 164757724 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:164757724G>C ENST00000264382.3 - 19 2257 c.2195C>G c.(2194-2196)aCt>aGt p.T732S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 732 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.T732N(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAAAAACTCAGTGTCCTCAAT 0.333000 HNSCC(35;0.089) 7 102 0 0 0.001984 0 0 SIRT7 51547 broad.mit.edu 37 17 79875977 79875977 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:79875977G>A ENST00000328666.6 - 1 93 c.31C>T c.(31-33)Cgc>Tgc p.R11C NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 11 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCGCTTTGCGCTCGGAGCGG 0.756000 5 39 0 0 0.001984 0 0 ZNF841 284371 broad.mit.edu 37 19 52568907 52568907 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:52568907C>A ENST00000389534.4 - 7 2687 c.2228G>T c.(2227-2229)gGg>gTg p.G743V ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.G627V|ZNF841_ENST00000594295.1_Missense_Mutation_p.G743V NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 AAAGACTTTCCCACATTCAAT 0.393000 7 12 8.12818e-05 9.63624e-05 0.001984 1 0 COL27A1 85301 broad.mit.edu 37 9 116930955 116930955 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:116930955G>T ENST00000356083.3 + 3 1511 c.1120G>T c.(1120-1122)Gcc>Tcc p.A374S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 374 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAAGCCTTCGGCCCCTTCTAC 0.537000 10 99 1.58986e-06 2.03179e-06 0.008291 1 0 GHITM 27069 broad.mit.edu 37 10 85909813 85909813 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:85909813G>T ENST00000372134.3 + 7 788 c.595G>T c.(595-597)Gtg>Ttg p.V199L NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 199 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TTCTCCAGGTGTGATGGGTGC 0.433000 17 62 3.5997e-14 5.19957e-14 0.002299 1 0 NUP98 4928 broad.mit.edu 37 11 3733881 3733881 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:3733881C>G ENST00000324932.7 - 20 3075 c.2655G>C c.(2653-2655)aaG>aaC p.K885N NUP98_ENST00000397007.4_Missense_Mutation_p.K902N|NUP98_ENST00000359171.4_Missense_Mutation_p.K885N|NUP98_ENST00000355260.3_Missense_Mutation_p.K885N|NUP98_ENST00000397004.4_Missense_Mutation_p.K885N NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 902 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCTTCAACTTCTTTGTACTAG 0.478000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 109 0 0 0.008291 0 0 C17orf50 146853 broad.mit.edu 37 17 34091593 34091593 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:34091593G>A ENST00000285023.4 + 3 513 c.481G>A c.(481-483)Gat>Aat p.D161N C17orf50_ENST00000588628.1_Missense_Mutation_p.G168E|C17orf50_ENST00000586491.1_Missense_Mutation_p.G131E NM_145272.3 NP_660315.2 Q8WW18 CQ050_HUMAN chromosome 17 open reading frame 50 161 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCGTTCTGGATCACCCGGA 0.662000 12 23 0 0 0.003163 0 0 FREM2 341640 broad.mit.edu 37 13 39266294 39266294 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:39266294A>C ENST00000280481.7 + 1 5029 c.4813A>C c.(4813-4815)Aaa>Caa p.K1605Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1605 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AATCAGCTACAAACATGATGG 0.418000 4 67 0 0 0.009096 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378876 55378876 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:55378876G>T ENST00000398661.2 - 6 733 c.602C>A c.(601-603)tCt>tAt p.S201Y HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S171Y|HMGCLL1_ENST00000508459.1_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 201 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GTGTCTTGCAGACTTAACAAC 0.338000 6 32 5.9392e-07 7.69443e-07 0.001168 1 0 MUC4 4585 broad.mit.edu 37 3 195518150 195518150 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195518150G>C ENST00000463781.3 - 2 760 c.301C>G c.(301-303)Ctt>Gtt p.L101V MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L101V NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 101 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAGAAAAAAGAGTTGATGTC 0.478000 7 75 0 0 0.001984 0 0 ATAD5 79915 broad.mit.edu 37 17 29205039 29205039 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:29205039G>A ENST00000321990.4 + 17 4315 c.3937G>A c.(3937-3939)Gaa>Aaa p.E1313K NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1313 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AATTTTTGATGAAGATGCTGG 0.284000 7 84 0 0 0.001984 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576991 158576991 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:158576991G>C ENST00000361284.1 + 1 763 c.763G>C c.(763-765)Gct>Cct p.A255P NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TTATGGCTGTGCTTCCTTCGT 0.512000 52 223 0 0 0.003610 0 0 ATP1B4 23439 broad.mit.edu 37 X 119513442 119513442 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:119513442G>A ENST00000218008.3 + 8 1084 c.1027G>A c.(1027-1029)Gat>Aat p.D343N ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 343 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TGTCATCAATGATCGTTTTGT 0.453000 6 84 0 0 0.001168 0 0 PKLR 5313 broad.mit.edu 37 1 155264172 155264172 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:155264172C>G ENST00000392414.3 - 7 990 c.877G>C c.(877-879)Gat>Cat p.D293H PKLR_ENST00000342741.4_Missense_Mutation_p.D324H NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 324 D -> N (in PKRD). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.D324N(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGGATTTCATCAAACCTGAGA 0.562000 5 48 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152284856 152284856 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:152284856C>T ENST00000368799.1 - 3 2541 c.2506G>A c.(2506-2508)Gat>Aat p.D836N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 836 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGACCATCTTGGGATGCT 0.587000 Ichthyosis 34 555 0 0 0.004878 0 0 ELF4 2000 broad.mit.edu 37 X 129201451 129201451 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:129201451A>C ENST00000308167.5 - 9 1616 c.1237T>G c.(1237-1239)Tcg>Gcg p.S413A ELF4_ENST00000335997.7_Missense_Mutation_p.S413A NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 413 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCGAGCCCGACCCCACGGGG 0.597000 T ERG AML 4 95 0 0 0.009096 0 0 CCBE1 147372 broad.mit.edu 37 18 57103325 57103325 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr18:57103325G>T ENST00000439986.4 - 11 1073 c.1036C>A c.(1036-1038)Cgc>Agc p.R346S CCBE1_ENST00000398179.2_Missense_Mutation_p.R75S NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 346 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.R346C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) ATGTCATTGCGGATGTCAGCC 0.522000 13 118 3.27435e-08 4.39299e-08 0.002450 1 0 ABCG4 64137 broad.mit.edu 37 11 119027683 119027683 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:119027683G>A ENST00000307417.3 + 9 1391 c.1027G>A c.(1027-1029)Gag>Aag p.E343K AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K|ABCG4_ENST00000449422.2_Missense_Mutation_p.E343K NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 343 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAGCAGCCCTGAGAAGAACGA 0.607000 8 104 0 0 0.006214 0 0 OR2G6 391211 broad.mit.edu 37 1 248685329 248685329 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248685329C>A ENST00000343414.4 + 1 414 c.382C>A c.(382-384)Cgg>Agg p.R128R NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTGTCTGCCGGCCACTGCG 0.597000 17 57 1.15088e-07 1.50653e-07 0.004007 1 0 JAK1 3716 broad.mit.edu 37 1 65332689 65332689 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:65332689C>T ENST00000342505.4 - 7 1098 c.850G>A c.(850-852)Gaa>Aaa p.E284K NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 284 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAAATATTTCAGCACCGTAA 0.398000 Mis ALL 9 100 0 0 0.004482 0 0 INTS3 65123 broad.mit.edu 37 1 153740270 153740270 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:153740270C>T ENST00000456435.1 + 21 2779 c.1593C>T c.(1591-1593)ctC>ctT p.L531L INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L737L|INTS3_ENST00000512605.1_Silent_p.L531L|INTS3_ENST00000318967.2_Silent_p.L737L Q68E01 INT3_HUMAN integrator complex subunit 3 738 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATGTGCGGCTCCTGTGCCACC 0.592000 7 74 0 0 0.003080 0 0 LZTS1 11178 broad.mit.edu 37 8 20110422 20110422 + Missense_Mutation SNP C C A rs147904321 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:20110422C>A ENST00000381569.1 - 3 1377 c.1020G>T c.(1018-1020)caG>caT p.Q340H LZTS1_ENST00000265801.6_Missense_Mutation_p.Q340H|LZTS1_ENST00000522290.1_Missense_Mutation_p.Q340H Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 340 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCCGCTTCTCCTGCTGAAGCT 0.642000 4 32 0.00024832 0.000286289 0.009096 1 0 KDM1B 221656 broad.mit.edu 37 6 18222215 18222215 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:18222215G>A ENST00000388870.2 + 22 2705 c.2464G>A c.(2464-2466)Gca>Aca p.A822T KDM1B_ENST00000397244.1_Missense_Mutation_p.A590T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A589T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A112T Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 821 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 CAAGATTGCAGCATTTTAAGA 0.408000 5 51 0 0 0.000602 0 0 SNX15 29907 broad.mit.edu 37 11 64807160 64807160 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:64807160G>A ENST00000377244.3 + 8 1055 c.925G>A c.(925-927)Gac>Aac p.D309N SNX15_ENST00000301886.3_3'UTR NM_013306.4|NM_147777.3 NP_037438.2|NP_680086.2 Q9NRS6 SNX15_HUMAN sorting nexin 15 309 MIT. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 CTCCACAGGTGACCCGTTGCC 0.602000 5 14 0 0 0.001168 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528512 6528512 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:6528512G>A ENST00000377748.1 - 21 3112 c.2615C>T c.(2614-2616)tCt>tTt p.S872F PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S851F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S832F|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S864F|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S874F|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S795F NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 851 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGCGTGGCAGATGAGGCAGT 0.637000 5 22 0 0 0.001168 0 0 KCNH5 27133 broad.mit.edu 37 14 63174541 63174541 + Silent SNP C C A rs143147156 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:63174541C>A ENST00000322893.7 - 11 2920 c.2652G>T c.(2650-2652)ccG>ccT p.P884P KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 884 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGTGCTCTAGCGGACTTCGGG 0.502000 16 100 4.7546e-09 6.44779e-09 0.004007 1 0 TCF20 6942 broad.mit.edu 37 22 42605678 42605678 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr22:42605678C>A ENST00000359486.3 - 1 5770 c.5634G>T c.(5632-5634)gcG>gcT p.A1878A TCF20_ENST00000404876.1_Silent_p.A179A|TCF20_ENST00000335626.4_Silent_p.A1878A NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1878 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTATTTCCAGCGCTTCCTGCA 0.433000 5 116 3.59834e-05 4.3341e-05 0.001168 1 0 CSNK2A1 1457 broad.mit.edu 37 20 485802 485802 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:485802T>C ENST00000217244.3 - 4 548 c.173A>G c.(172-174)aAc>aGc p.N58S CSNK2A1_ENST00000400217.1_5'UTR|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N58S|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N58S NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 58 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATTTGTGATGTTGATGGCTTC 0.313000 5 28 0 0 0.001168 0 0 TAGAP 117289 broad.mit.edu 37 6 159456967 159456967 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:159456967G>T ENST00000367066.3 - 10 2419 c.2088C>A c.(2086-2088)acC>acA p.T696T RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.T518T NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 696 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACTCGGAGACGGTCCTCAGCG 0.582000 10 38 2.17888e-05 2.6498e-05 0.006214 1 0 CPNE4 131034 broad.mit.edu 37 3 131388587 131388587 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:131388587G>A ENST00000512055.1 - 11 2739 c.613C>T c.(613-615)Cca>Tca p.P205S CPNE4_ENST00000512332.1_Missense_Mutation_p.P223S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P205S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P223S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P205S Q96A23 CPNE4_HUMAN copine IV 205 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTCCAGGCTGGGCTTAAGTTA 0.428000 6 80 0 0 0.001168 0 0 CNR1 1268 broad.mit.edu 37 6 88854258 88854258 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:88854258C>T ENST00000537554.1 - 2 4298 c.736G>A c.(736-738)Gtg>Atg p.V246M CNR1_ENST00000549890.1_Missense_Mutation_p.V246M|CNR1_ENST00000369499.2_Missense_Mutation_p.V246M|CNR1_ENST00000369501.2_Missense_Mutation_p.V246M|CNR1_ENST00000549716.1_Missense_Mutation_p.V185M|CNR1_ENST00000468898.1_Missense_Mutation_p.V213M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.V246M|CNR1_ENST00000535130.1_Missense_Mutation_p.V246M NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 246 V -> A (in Ref. 5; AAD34320). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACGGCGATCACAATGGCTATG 0.527000 7 57 0 0 0.003080 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132935 48132935 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:48132935G>A ENST00000405493.2 - 24 2535 c.2326C>T c.(2326-2328)Ctt>Ttt p.L776F RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L776F|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L818F|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L709F|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L818F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L776F NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 776 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCTTTGAGAAGAAGGGGCATG 0.602000 6 28 0 0 0.003080 0 0 CLCN3 1182 broad.mit.edu 37 4 170613428 170613428 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:170613428A>G ENST00000513761.1 + 7 1452 c.893A>G c.(892-894)tAc>tGc p.Y298C CLCN3_ENST00000504131.2_Missense_Mutation_p.Y281C|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y298C|CLCN3_ENST00000360642.3_Missense_Mutation_p.Y298C NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 298 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) ATCTTTTCCTACCTCTTTCCA 0.358000 8 107 0 0 0.003080 0 0 HELZ 9931 broad.mit.edu 37 17 65103325 65103325 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:65103325G>C ENST00000358691.5 - 31 5367 c.5201C>G c.(5200-5202)tCt>tGt p.S1734C HELZ_ENST00000580168.1_Missense_Mutation_p.S1735C NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACTGTTCGAGATGACAATGG 0.398000 7 147 0 0 0.001984 0 0 DLG1 1739 broad.mit.edu 37 3 196831852 196831852 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:196831852C>A ENST00000346964.2 - 15 1756 c.1567G>T c.(1567-1569)Gct>Tct p.A523S DLG1_ENST00000422288.1_Missense_Mutation_p.A472S|DLG1_ENST00000419354.1_Missense_Mutation_p.A523S|DLG1_ENST00000452595.1_Missense_Mutation_p.A407S|DLG1_ENST00000392382.2_Missense_Mutation_p.A490S|DLG1_ENST00000450955.1_Missense_Mutation_p.A490S|DLG1_ENST00000314062.3_Missense_Mutation_p.A472S|DLG1_ENST00000448528.2_Missense_Mutation_p.A523S|DLG1_ENST00000357674.4_Missense_Mutation_p.A490S|DLG1_ENST00000443183.1_Missense_Mutation_p.A407S NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 523 PDZ 3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCATGACTAGCAGCTCTGAGG 0.388000 4 47 0.00909568 0.00985365 0.009096 1 0 LRP1B 53353 broad.mit.edu 37 2 141680548 141680548 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:141680548G>T ENST00000389484.3 - 21 4276 c.3305C>A c.(3304-3306)tCc>tAc p.S1102Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1102 LDL-receptor class A 9. 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) ACTCCAACAGGAAAACTTGGT 0.443000 TSP Lung(27;0.18) 7 40 5.18039e-06 6.44557e-06 0.003080 1 0 AFF2 2334 broad.mit.edu 37 X 148037467 148037467 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:148037467C>A ENST00000370460.2 + 11 2371 c.1892C>A c.(1891-1893)cCc>cAc p.P631H AFF2_ENST00000370457.5_Missense_Mutation_p.P598H|AFF2_ENST00000286437.5_Missense_Mutation_p.P272H|AFF2_ENST00000342251.3_Missense_Mutation_p.P598H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 631 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAAAAACAGCCCAAAAAAGTT 0.433000 15 134 0.00244969 0.00273235 0.002450 1 0 ESRRB 2103 broad.mit.edu 37 14 76948464 76948464 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:76948464A>T ENST00000380887.2 + 4 692 c.620A>T c.(619-621)aAg>aTg p.K207M ESRRB_ENST00000556177.1_Missense_Mutation_p.K207M|ESRRB_ENST00000261532.7_Missense_Mutation_p.K207M|ESRRB_ENST00000509242.1_Missense_Mutation_p.K207M|ESRRB_ENST00000507951.1_3'UTR A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCTGCTAAAAAGCCATGTGAG 0.542000 5 42 0 0 0.000602 0 0 MEGF8 1954 broad.mit.edu 37 19 42853690 42853690 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:42853690A>C ENST00000334370.4 + 13 2772 c.2137A>C c.(2137-2139)Acg>Ccg p.T713P MEGF8_ENST00000251268.6_Missense_Mutation_p.T780P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 780 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGAGAAGGAGACGCGGCGGCT 0.647000 5 27 0 0 0.001168 0 0 ASXL2 55252 broad.mit.edu 37 2 25966745 25966745 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:25966745G>A ENST00000435504.4 - 13 2754 c.2461C>T c.(2461-2463)Cca>Tca p.P821S ASXL2_ENST00000336112.4_Missense_Mutation_p.P793S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P561S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P561S Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCCTTGTGGATGGCTGACA 0.522000 16 199 0 0 0.004007 0 0 KRT7 3855 broad.mit.edu 37 12 52635264 52635264 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:52635264A>T ENST00000331817.5 + 5 885 c.702A>T c.(700-702)acA>acT p.T234T NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 234 Coil 1B.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) AGGAGTTGACAGAGCTGCAGT 0.577000 4 64 0 0 0.001168 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883032 64883032 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:64883032G>C ENST00000279263.7 + 9 1220 c.1058G>C c.(1057-1059)gGa>gCa p.G353A TM7SF2_ENST00000540748.1_Missense_Mutation_p.G237A|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G326A NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 353 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AACTATCTTGGAGACCTCATC 0.592000 3 50 0 0 0.004672 0 0 ZBTB12 221527 broad.mit.edu 37 6 31869005 31869005 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:31869005G>A ENST00000375527.2 - 2 253 c.78C>T c.(76-78)ctC>ctT p.L26L C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CCTCTGCCCGGAGCTGGTTCA 0.657000 4 36 0 0 0.009096 0 0 MID2 11043 broad.mit.edu 37 X 107160843 107160843 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:107160843C>A ENST00000262843.6 + 7 1857 c.1309C>A c.(1309-1311)Cag>Aag p.Q437K RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.Q437K NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 437 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CTATGAGCTTCAGTACACCAT 0.488000 18 274 3.52763e-06 4.43306e-06 0.004990 1 0 SNHG14 104472715 broad.mit.edu 37 15 25425721 25425721 + RNA SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:25425721G>A ENST00000441592.2 + 0 575 SNORD115-6_ENST00000363942.1_RNA ATTACGCTGAGGCCCAGCCTA 0.502000 8 273 0 0 0.010729 0 0 CADPS2 93664 broad.mit.edu 37 7 122131426 122131426 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:122131426C>T ENST00000334010.7 - 10 2012 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K CADPS2_ENST00000412584.2_Missense_Mutation_p.E531K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E531K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E531K NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 531 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCTTGTGGTTCAGACTTCTTT 0.353000 3 6 0 0 0.004672 0 0 HYOU1 10525 broad.mit.edu 37 11 118925964 118925964 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:118925964C>A ENST00000404233.3 - 5 476 c.352G>T c.(352-354)Gcc>Tcc p.A118S HYOU1_ENST00000525859.1_Missense_Mutation_p.A118S|HYOU1_ENST00000529972.1_Missense_Mutation_p.A118S|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31S NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 118 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGGAAGCGGGCCTGGTAAAGA 0.567000 16 102 8.60227e-14 1.23781e-13 0.004007 1 0 MAML1 9794 broad.mit.edu 37 5 179192956 179192956 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:179192956A>G ENST00000292599.3 + 2 1208 c.945A>G c.(943-945)ccA>ccG p.P315P MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 315 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGCTCTCCACAAGTGAGGG 0.552000 4 64 0 0 0.009096 0 0 DBF4B 80174 broad.mit.edu 37 17 42818707 42818707 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:42818707G>C ENST00000315005.3 + 10 855 c.717G>C c.(715-717)aaG>aaC p.K239N DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.K239N NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 239 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) GTTGCAGGAAGTTTCGTCCTT 0.493000 9 94 0 0 0.010729 0 0 TRIB1 10221 broad.mit.edu 37 8 126448348 126448348 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:126448348G>T ENST00000311922.3 + 3 1336 c.754G>T c.(754-756)Gag>Tag p.E252* TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E86*|TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E21* NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 252 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CGTGAGCCCTGAGATCCTCAA 0.532000 5 62 1.23904e-05 1.53153e-05 0.000602 1 0 SPATA32 124783 broad.mit.edu 37 17 43333147 43333147 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:43333147C>G ENST00000543122.1 - 6 1120 c.339G>C c.(337-339)cgG>cgC p.R113R SPATA32_ENST00000331780.4_Silent_p.R134R|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA spermatogenesis associated 32 CCGTGAAACTCCGGCAGTTTG 0.567000 6 107 0 0 0.001168 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622209 234622209 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:234622209C>G ENST00000373414.3 + 1 572 c.572C>G c.(571-573)tCc>tGc p.S191C UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCAAACCCTTCCTCCTATATT 0.478000 14 201 0 0 0.001855 0 0 MUC4 4585 broad.mit.edu 37 3 195516687 195516687 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516687C>T ENST00000463781.3 - 2 2223 c.1764G>A c.(1762-1764)caG>caA p.Q588Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q588Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 593 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTTTTATCATCTGAGTCACAC 0.488000 25 335 0 0 0.005443 0 0 TARS2 80222 broad.mit.edu 37 1 150477190 150477190 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:150477190G>A ENST00000369064.3 + 15 1835 c.1801G>A c.(1801-1803)Gaa>Aaa p.E601K TARS2_ENST00000606933.1_Missense_Mutation_p.E519K|TARS2_ENST00000369054.2_Missense_Mutation_p.E471K NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 601 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) AGTGCTGGCAGAAAGCTGCGG 0.567000 8 153 0 0 0.003080 0 0 C10orf53 282966 broad.mit.edu 37 10 50916560 50916560 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:50916560G>A ENST00000374112.3 + 3 383 c.371G>A c.(370-372)gGa>gAa p.G124E C10orf53_ENST00000535836.1_Missense_Mutation_p.G124E NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 endometrium(1)|lung(6) 7 all_neural(218;0.107) gcccagattggatcatgtatc 0.488000 19 181 0 0 0.007413 0 0 DIS3L 115752 broad.mit.edu 37 15 66621441 66621441 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:66621441G>A ENST00000319194.5 + 13 2347 c.2086G>A c.(2086-2088)Gag>Aag p.E696K DIS3L_ENST00000319212.4_Missense_Mutation_p.E779K|RP11-352G18.2_ENST00000565993.1_RNA NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 779 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCCTGTGCGGAGGAGGAGTT 0.468000 5 61 0 0 0.000602 0 0 CFB 629 broad.mit.edu 37 6 31911243 31911243 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:31911243C>G ENST00000556679.1 + 9 1102 c.1047C>G c.(1045-1047)gtC>gtG p.V349V C2_ENST00000299367.5_Silent_p.V502V|CFB_ENST00000477310.1_Silent_p.V273V|C2_ENST00000452323.2_Silent_p.V288V|C2_ENST00000442278.2_Silent_p.V370V|CFB_ENST00000456570.1_Silent_p.V349V|C2_ENST00000469372.1_Silent_p.V256V P00751 CFAB_HUMAN complement factor B 521 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACCAATGGGTCCTGACAGCAG 0.597000 11 156 0 0 0.001855 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472433 69472433 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:69472433C>G ENST00000303714.4 + 18 1833 c.1511C>G c.(1510-1512)tCc>tGc p.S504C NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 504 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TACCACAcctcctcgccgcct 0.642000 Familial Infantile Hemangioma 3 53 0 0 0.009096 0 0 INSRR 3645 broad.mit.edu 37 1 156823675 156823675 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:156823675C>G ENST00000368195.3 - 2 902 c.506G>C c.(505-507)gGc>gCc p.G169A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 169 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGCTTGTTGCCCACGATGTG 0.637000 11 29 0 0 0.010729 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403713 47403713 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:47403713G>T ENST00000310638.4 - 2 323 c.292C>A c.(292-294)Cag>Aag p.Q98K CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q98K NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 98 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCATAGAGCTGGACACGAACT 0.517000 10 86 2.17888e-05 2.6498e-05 0.006214 1 0 GNA12 2768 broad.mit.edu 37 7 2771079 2771079 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:2771079G>A ENST00000275364.3 - 4 1044 c.882C>T c.(880-882)ttC>ttT p.F294F GNA12_ENST00000407904.3_Silent_p.F235F|GNA12_ENST00000544127.1_Silent_p.F201F|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Silent_p.F218F|GNA12_ENST00000396960.3_Silent_p.F146F NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 294 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TCTTGTTGAGGAAGAGAATGA 0.557000 6 64 0 0 0.001168 0 0 LIPC 3990 broad.mit.edu 37 15 58853108 58853108 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:58853108C>G ENST00000414170.3 + 8 1384 c.1097C>G c.(1096-1098)aCa>aGa p.T366R LIPC_ENST00000299022.5_Missense_Mutation_p.T366R|LIPC_ENST00000433326.2_Missense_Mutation_p.T305R|LIPC_ENST00000356113.6_Missense_Mutation_p.T366R P11150 LIPC_HUMAN lipase, hepatic 366 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.T366K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CAAACTGAGACACCAATACAA 0.393000 3 40 0 0 0.004672 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632712 122632712 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:122632712C>T ENST00000195173.4 - 15 2428 c.2125G>A c.(2125-2127)Gag>Aag p.E709K SEMA5B_ENST00000451055.2_Missense_Mutation_p.E763K|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E709K Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 709 TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CACCGTTCCTCCCGGCTCTTG 0.662000 8 95 0 0 0.008291 0 0 TTLL4 9654 broad.mit.edu 37 2 219602948 219602948 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:219602948C>G ENST00000392102.1 + 3 889 c.549C>G c.(547-549)ctC>ctG p.L183L TTLL4_ENST00000442769.1_Silent_p.L183L|TTLL4_ENST00000457313.1_Silent_p.L18L|TTLL4_ENST00000258398.4_Silent_p.L183L NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 183 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AACCATACCTCTGCTTGGCAG 0.567000 6 113 0 0 0.001168 0 0 PLG 5340 broad.mit.edu 37 6 161127552 161127552 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:161127552G>T ENST00000308192.9 + 2 226 c.163G>T c.(163-165)Gag>Tag p.E55* PLG_ENST00000366924.2_Nonsense_Mutation_p.E55*|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 55 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAAATGTGAGGAGGACGAAGA 0.428000 18 99 1.01871e-10 1.41197e-10 0.008871 1 0 GPR112 139378 broad.mit.edu 37 X 135426905 135426905 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:135426905C>A ENST00000394143.1 + 6 1331 c.1040C>A c.(1039-1041)tCt>tAt p.S347Y GPR112_ENST00000287534.4_Missense_Mutation_p.S284Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S142Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S347Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S142Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 347 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAATCTCCATCTTCAGAAAGC 0.393000 6 47 0.00116845 0.00130713 0.001168 1 0 ZNF592 9640 broad.mit.edu 37 15 85345225 85345225 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:85345225G>A ENST00000299927.3 + 8 3427 c.3405G>A c.(3403-3405)tcG>tcA p.S1135S ZNF592_ENST00000560079.2_Silent_p.S1135S Q92610 ZN592_HUMAN zinc finger protein 592 1135 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACAGACTCGGGGCTCGAGT 0.562000 5 43 0 0 0.000602 0 0 SPINK5 11005 broad.mit.edu 37 5 147473998 147473998 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:147473998G>C ENST00000359874.3 + 9 821 c.748G>C c.(748-750)Gac>Cac p.D250H SPINK5_ENST00000256084.7_Missense_Mutation_p.D250H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D250H|SPINK5_ENST00000476608.1_3'UTR NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 250 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTGGCCCTGACGGCAGGAT 0.423000 4 94 0 0 0.000602 0 0 CHIT1 1118 broad.mit.edu 37 1 203186907 203186907 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:203186907C>T ENST00000367229.1 - 10 1150 c.1116G>A c.(1114-1116)caG>caA p.Q372Q CHIT1_ENST00000255427.3_Silent_p.Q353Q|CHIT1_ENST00000535569.1_Silent_p.Q363Q|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 372 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGTATCGGCCCTGGTTGCAGG 0.597000 4 61 0 0 0.000602 0 0 CACNA1S 779 broad.mit.edu 37 1 201009787 201009787 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:201009787G>T ENST00000362061.3 - 42 5415 c.5189C>A c.(5188-5190)gCa>gAa p.A1730E CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1711E|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1730 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGGGCATTGCCCTCTGGGT 0.607000 10 61 2.68362e-12 3.81783e-12 0.001368 1 0 KCNA4 3739 broad.mit.edu 37 11 30033840 30033840 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:30033840T>G ENST00000328224.6 - 2 1619 c.386A>C c.(385-387)gAg>gCg p.E129A NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 129 Poly-Glu. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ttcctcctcctcctcatcttc 0.547000 6 41 0 0 0.001168 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895869 24895869 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:24895869C>A ENST00000382071.2 + 4 1050 c.965C>A c.(964-966)aCa>aAa p.T322K C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T322K P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 322 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GACGATGACACAACTTTCACA 0.517000 16 172 0.000422831 0.000484521 0.004007 1 0 COL2A1 1280 broad.mit.edu 37 12 48372469 48372469 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:48372469C>T ENST00000380518.3 - 42 2970 c.2806G>A c.(2806-2808)Ggc>Agc p.G936S COL2A1_ENST00000337299.6_Missense_Mutation_p.G867S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 936 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGGGGGGCCGCTGTCTCCT 0.637000 6 33 0 0 0.001984 0 0 EIF6 3692 broad.mit.edu 37 20 33867912 33867912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:33867912C>T ENST00000374450.3 - 5 643 c.379G>A c.(379-381)Gaa>Aaa p.E127K EIF6_ENST00000374443.3_Missense_Mutation_p.E108K|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Missense_Mutation_p.E127K NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 127 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCAGAATTTCTTCTGTCTCC 0.517000 6 156 0 0 0.001168 0 0 P2RY10 27334 broad.mit.edu 37 X 78216469 78216469 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:78216469G>C ENST00000171757.2 + 4 732 c.452G>C c.(451-453)gGc>gCc p.G151A P2RY10_ENST00000544091.1_Missense_Mutation_p.G151A|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 151 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TACGATGTGGGCATCAGTGCT 0.498000 23 71 0 0 0.012319 0 0 SV2C 22987 broad.mit.edu 37 5 75427941 75427941 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:75427941G>C ENST00000502798.2 + 2 808 c.366G>C c.(364-366)gaG>gaC p.E122D SV2C_ENST00000322285.7_Missense_Mutation_p.E122D NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 122 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACCGGCGGGAGCTGGAATCAG 0.547000 8 52 0 0 0.004482 0 0 ADCK1 57143 broad.mit.edu 37 14 78353523 78353523 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:78353523G>T ENST00000238561.5 + 5 612 c.513G>T c.(511-513)cgG>cgT p.R171R ADCK1_ENST00000341211.5_Silent_p.R103R NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 178 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATGATGGGCGGACGGTGGCCG 0.607000 8 98 0.000157383 0.000183695 0.003080 1 0 TRIML1 339976 broad.mit.edu 37 4 189068192 189068192 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:189068192G>T ENST00000332517.3 + 6 1213 c.1073G>T c.(1072-1074)tGc>tTc p.C358F TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 358 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding 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) GTGGGCATCTGCAAGGACTCT 0.537000 9 66 0.000274275 0.000315249 0.004482 1 0 MGLL 11343 broad.mit.edu 37 3 127439934 127439934 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:127439934G>A ENST00000434178.2 - 5 1338 c.442C>T c.(442-444)Ctg>Ttg p.L148L MGLL_ENST00000398104.1_Silent_p.L148L|MGLL_ENST00000453507.2_Silent_p.L158L|MGLL_ENST00000398101.3_Silent_p.L122L|MGLL_ENST00000265052.5_Silent_p.L158L Q99685 MGLL_HUMAN monoglyceride lipase 148 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity p.L148L(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GCAAGAACCAGAGGCGAAATG 0.552000 6 48 0 0 0.001984 0 0 BTBD10 84280 broad.mit.edu 37 11 13435091 13435091 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:13435091T>G ENST00000278174.5 - 6 1039 c.794A>C c.(793-795)aAa>aCa p.K265T BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 265 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) ATCTCTACATTTAATAGTGCT 0.323000 3 44 0 0 0.009096 0 0 TRIP13 9319 broad.mit.edu 37 5 908512 908512 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:908512A>T ENST00000166345.3 + 9 1158 c.802A>T c.(802-804)Acc>Tcc p.T268S NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 268 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CAGGGCGGGCACCGAGCCATC 0.557000 8 59 0 0 0.003080 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691969 31691969 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:31691969G>T ENST00000360542.3 - 1 638 c.385C>A c.(385-387)Ctc>Atc p.L129I NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 129 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TAACTATTGAGCAGCGGCCTC 0.537000 29 156 1.39806e-14 2.02718e-14 0.008361 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383027 7383027 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:7383027C>T ENST00000355637.4 + 1 277 c.25C>T c.(25-27)Ctg>Ttg p.L9L RBFOX1_ENST00000311745.5_Silent_p.L9L|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.L9L NM_145893.2 NP_665900.1 Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 0 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGGAGTTCTCCTGCATCCTTA 0.483000 7 101 0 0 0.003080 0 0 GPR176 11245 broad.mit.edu 37 15 40093561 40093561 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:40093561C>T ENST00000299092.3 - 4 1515 c.1317G>A c.(1315-1317)gtG>gtA p.V439V GPR176_ENST00000561100.1_Silent_p.V440V|GPR176_ENST00000543580.1_Silent_p.V395V NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 440 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) TTTCAGGTTCCACAGGGGCTG 0.592000 6 142 0 0 0.001168 0 0 C17orf47 284083 broad.mit.edu 37 17 56621265 56621265 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:56621265C>G ENST00000321691.3 - 1 464 c.283G>C c.(283-285)Gaa>Caa p.E95Q RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 95 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGATGATTCTGTTCTTGGT 0.537000 5 55 0 0 0.000602 0 0 PACS1 55690 broad.mit.edu 37 11 65983614 65983614 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:65983614G>T ENST00000320580.4 + 5 718 c.685G>T c.(685-687)Gca>Tca p.A229S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 229 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TAATGAAGGCGCACTGGTGCT 0.537000 13 58 2.61681e-11 3.66743e-11 0.002450 1 0 GPRIN1 114787 broad.mit.edu 37 5 176025501 176025501 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:176025501C>A ENST00000303991.4 - 2 1512 c.1335G>T c.(1333-1335)gtG>gtT p.V445V NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 445 growth cone|plasma membrane 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) CTGCCTTTCCCACAGACACAC 0.532000 11 97 0.00010058 0.000118496 0.001368 1 0 CRTAM 56253 broad.mit.edu 37 11 122738175 122738175 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:122738175G>T ENST00000227348.4 + 8 923 c.876G>T c.(874-876)acG>acT p.T292T CRTAM_ENST00000533709.1_Silent_p.T93T NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 292 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 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;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCTGCTCACGCTGGTGTCCT 0.418000 3 20 0.004672 0.00515013 0.004672 1 0 OR2T2 401992 broad.mit.edu 37 1 248616344 248616344 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248616344G>T ENST00000342927.3 + 1 268 c.246G>T c.(244-246)atG>atT p.M82I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M82I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|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;0.0265) TCCCCAAGATGCTCCAGGACC 0.527000 11 200 6.31663e-08 8.35568e-08 0.003163 1 0 NGEF 25791 broad.mit.edu 37 2 233745891 233745891 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:233745891G>T ENST00000264051.3 - 14 2185 c.1907C>A c.(1906-1908)gCc>gAc p.A636D NGEF_ENST00000539537.1_Missense_Mutation_p.A359D|NGEF_ENST00000373552.4_Missense_Mutation_p.A544D NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 636 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GAGGATGTCGGCGAGCTCCAG 0.662000 13 73 2.61681e-11 3.66743e-11 0.002450 1 0 LOXL1 4016 broad.mit.edu 37 15 74219600 74219600 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:74219600C>G ENST00000261921.7 + 1 802 c.476C>G c.(475-477)tCg>tGg p.S159W LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 159 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 TCCTCGGTCTCGGCTTCGGCC 0.711000 7 76 0 0 0.003080 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655756 40655756 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:40655756G>T ENST00000406785.1 - 2 1854 c.1665C>A c.(1663-1665)atC>atA p.I555I SLC8A1_ENST00000403092.1_Silent_p.I555I|SLC8A1_ENST00000406391.2_Silent_p.I555I|SLC8A1_ENST00000405269.1_Silent_p.I555I|SLC8A1_ENST00000405901.3_Silent_p.I555I|SLC8A1_ENST00000402441.1_Silent_p.I555I|SLC8A1_ENST00000332839.4_Silent_p.I555I|SLC8A1_ENST00000542024.1_Silent_p.I555I|SLC8A1_ENST00000542756.1_Silent_p.I555I|SLC8A1_ENST00000408028.2_Silent_p.I555I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 555 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding 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) TCACCTCCATGATGCCAATGC 0.458000 9 97 2.17888e-05 2.6498e-05 0.006214 1 0 LRP1 4035 broad.mit.edu 37 12 57590912 57590912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:57590912C>T ENST00000243077.3 + 56 9506 c.9040C>T c.(9040-9042)Cgc>Tgc p.R3014C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3014 EGF-like 12; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTATGCACCCCGCGGCGGCGA 0.637000 9 72 0 0 0.004482 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038216 5038216 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:5038216C>G ENST00000251170.7 + 4 460 c.280C>G c.(280-282)Ctc>Gtc p.L94V NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 94 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GAGGACGCTCCTCATCGAAGC 0.632000 5 38 0 0 0.000602 0 0 KIF19 124602 broad.mit.edu 37 17 72350304 72350304 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:72350304G>A ENST00000389916.4 + 18 2450 c.2312G>A c.(2311-2313)aGg>aAg p.R771K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 771 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCTGCAGAGAGGAAGGAGATC 0.662000 5 84 0 0 0.000602 0 0 OR5J2 282775 broad.mit.edu 37 11 55944298 55944298 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:55944298G>T ENST00000312298.1 + 1 205 c.205G>T c.(205-207)Gtg>Ttg p.V69L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TCTTTCATTTGTGGATGCCTG 0.443000 10 147 0.000442599 0.000504109 0.006214 1 0 HUWE1 10075 broad.mit.edu 37 X 53616620 53616620 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:53616620G>T ENST00000342160.3 - 35 4805 c.4348C>A c.(4348-4350)Ctt>Att p.L1450I HUWE1_ENST00000262854.6_Missense_Mutation_p.L1450I|HUWE1_ENST00000218328.8_Missense_Mutation_p.L1450I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1450 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 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 TCATCAAGAAGGTGGAAGCAG 0.468000 9 93 0.00448238 0.00497017 0.004482 1 0 ATF2 1386 broad.mit.edu 37 2 175957959 175957959 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:175957959T>C ENST00000264110.2 - 12 1313 c.1015A>G c.(1015-1017)Aca>Gca p.T339A ATF2_ENST00000409635.1_Missense_Mutation_p.T281A|ATF2_ENST00000392544.1_Missense_Mutation_p.T339A|ATF2_ENST00000409437.1_Missense_Mutation_p.T223A|ATF2_ENST00000345739.5_Missense_Mutation_p.T281A|ATF2_ENST00000538946.1_Missense_Mutation_p.T321A|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.T321A NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 339 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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CGACCACTTGTACTTTGGGTC 0.413000 4 32 0 0 0.009096 0 0 GABRE 2564 broad.mit.edu 37 X 151128375 151128375 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:151128375C>A ENST00000370325.1 - 6 773 c.720G>T c.(718-720)tgG>tgT p.W240C GABRE_ENST00000370328.3_Missense_Mutation_p.W240C|GABRE_ENST00000393914.3_Missense_Mutation_p.W47C P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 240 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGAGCTTCCAGGAGTTCT 0.443000 8 81 0.000157383 0.000183695 0.003080 1 0 ZNF518B 85460 broad.mit.edu 37 4 10447569 10447569 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:10447569C>G ENST00000326756.3 - 3 822 c.384G>C c.(382-384)agG>agC p.R128S NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GCTTAAAGTTCCTTACCTTAA 0.373000 7 86 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20525659 20525659 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:20525659A>G ENST00000504154.1 + 14 1549 c.1297A>G c.(1297-1299)Att>Gtt p.I433V SLIT2_ENST00000273739.5_Missense_Mutation_p.I437V|SLIT2_ENST00000503823.1_Missense_Mutation_p.I433V|SLIT2_ENST00000503837.1_Missense_Mutation_p.I437V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 433 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GAACCCCTTTATTTGTGACTG 0.488000 6 146 0 0 0.003080 0 0 AC015849.16 0 broad.mit.edu 37 17 34236567 34236567 + RNA SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:34236567G>A ENST00000587132.1 - 0 1460 CTGGAGTGATGATAAACCCCA 0.473000 6 33 0 0 0.001168 0 0 SH3TC2 79628 broad.mit.edu 37 5 148411177 148411177 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:148411177C>G ENST00000515425.1 - 9 1176 c.1075G>C c.(1075-1077)Gag>Cag p.E359Q SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E352Q|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E244Q|SH3TC2_ENST00000538184.1_5'UTR NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 359 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAACACTCAGTCTGCTTA 0.537000 6 39 0 0 0.001168 0 0 ZNF41 7592 broad.mit.edu 37 X 47306910 47306910 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:47306910C>G ENST00000377065.4 - 5 2898 c.2259G>C c.(2257-2259)caG>caC p.Q753H ZNF41_ENST00000313116.7_Missense_Mutation_p.Q753H|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q763H NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 795 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TAAAGGCCTTCTGACATTCTG 0.383000 13 70 0 0 0.001368 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599538 128599538 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:128599538G>A ENST00000371122.4 - 23 3118 c.2989C>T c.(2989-2991)Cag>Tag p.Q997* SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q985*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q985* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 997 SANT 2. 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 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 AATCTAAACTGGGGAGCATTT 0.343000 5 66 0 0 0.000602 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068888 193068888 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:193068888A>T ENST00000342358.4 - 7 826 c.709T>A c.(709-711)Tcc>Acc p.S237T NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 237 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGACAATGGAGATAACAGTC 0.388000 5 22 0 0 0.000602 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 52 0 0 0.009096 0 0 IFI6 2537 broad.mit.edu 37 1 27992960 27992960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:27992960C>G ENST00000361157.6 - 5 452 c.325G>C c.(325-327)Ggt>Cgt p.G109R IFI6_ENST00000339145.4_Missense_Mutation_p.G117R|IFI6_ENST00000362020.4_Missense_Mutation_p.G113R NM_002038.3|NM_022872.2|NM_022873.2 NP_002029.3|NP_075010.1|NP_075011.1 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 109 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding lung(1)|ovary(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCAATATTACCTATGACGACG 0.537000 6 44 0 0 0.003080 0 0 OR4E2 26686 broad.mit.edu 37 14 22133768 22133768 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:22133768G>T ENST00000408935.1 + 1 472 c.472G>T c.(472-474)Ggg>Tgg p.G158W NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G158W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCACTCACTAGGGCAGACCTT 0.488000 15 114 2.32078e-09 3.18158e-09 0.003163 1 0 CLPB 81570 broad.mit.edu 37 11 72145270 72145270 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:72145270G>C ENST00000437826.2 - 1 156 c.7C>G c.(7-9)Cgc>Ggc p.R3G CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 0 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCAGCCGCGAGGCATTTGG 0.692000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 69 0 0 0.006214 0 0 EPPK1 83481 broad.mit.edu 37 8 144945369 144945369 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:144945369C>G ENST00000525985.1 - 2 2124 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q P58107 EPIPL_HUMAN epiplakin 1 685 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGCGCGCTCAGCCGACAGC 0.612000 6 50 0 0 0.001168 0 0 FSD2 123722 broad.mit.edu 37 15 83456108 83456108 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:83456108T>G ENST00000334574.8 - 2 216 c.35A>C c.(34-36)gAc>gCc p.D12A FSD2_ENST00000541889.1_Missense_Mutation_p.D12A A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 12 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 AGTAGACCTGTCCAGCCCCAG 0.468000 6 64 0 0 0.001168 0 0 PTPRA 5786 broad.mit.edu 37 20 3005234 3005234 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:3005234G>A ENST00000216877.6 + 16 1954 c.1554G>A c.(1552-1554)ggG>ggA p.G518G PTPRA_ENST00000425918.2_Silent_p.G538G|PTPRA_ENST00000380393.3_Silent_p.G527G|PTPRA_ENST00000356147.3_Silent_p.G518G|PTPRA_ENST00000318266.5_Silent_p.G518G|PTPRA_ENST00000399903.2_Silent_p.G527G|PTPRA_ENST00000358719.4_Silent_p.G383G NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 527 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAATCCCAGGGACCAGCAACA 0.453000 7 121 0 0 0.001984 0 0 RHEBL1 121268 broad.mit.edu 37 12 49460259 49460259 + Splice_Site SNP C C T rs148047837 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:49460259C>T ENST00000301068.6 - 5 571 c.332_splice c.e5+1 p.R111_splice NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 111 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 GGCCACTTACCGGGTTTTCCC 0.483000 14 457 0 0 0.004007 0 0 PCNXL2 80003 broad.mit.edu 37 1 233161085 233161085 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:233161085C>A ENST00000258229.8 - 26 4646 c.4412G>T c.(4411-4413)gGc>gTc p.G1471V PCNXL2_ENST00000344698.2_Missense_Mutation_p.G123V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1471 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCAGCAGCAGCCTCTGTCCTC 0.587000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 81 0.000442599 0.000504109 0.006214 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 3 6 0 0 0.004672 0 0 TECTA 7007 broad.mit.edu 37 11 121032845 121032845 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:121032845G>T ENST00000392793.1 + 16 5309 c.5038G>T c.(5038-5040)Gtg>Ttg p.V1680L TECTA_ENST00000264037.2_Missense_Mutation_p.V1680L O75443 TECTA_HUMAN tectorin alpha 1680 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTGTGACAATGTGCACATCCA 0.537000 10 93 2.17888e-05 2.6498e-05 0.006214 1 0 VSIG4 11326 broad.mit.edu 37 X 65253491 65253491 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:65253491C>T ENST00000455586.2 - 2 363 c.237G>A c.(235-237)caG>caA p.Q79Q VSIG4_ENST00000374737.4_Silent_p.Q79Q|VSIG4_ENST00000412866.2_Silent_p.Q79Q NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 79 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTACTTTGCCTGCTGGATAT 0.547000 13 101 0 0 0.001855 0 0 SCN3A 6328 broad.mit.edu 37 2 165947170 165947170 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:165947170T>A ENST00000360093.3 - 28 5984 c.5493A>T c.(5491-5493)aaA>aaT p.K1831N AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1831N|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1782N|SCN3A_ENST00000540861.1_Missense_Mutation_p.K314N NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1831 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAAGCTGGACTTTGTTGGGTT 0.453000 9 99 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179591958 179591958 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:179591958C>T ENST00000589042.1 - 69 20358 c.20134G>A c.(20134-20136)Gat>Aat p.D6712N TTN_ENST00000591111.1_Missense_Mutation_p.D6395N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5468N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6395 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTACTTATCACTGGCTGGA 0.443000 7 52 0 0 0.003080 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999139 83999139 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:83999139G>C ENST00000343939.2 + 7 1593 c.1210G>C c.(1210-1212)Gac>Cac p.D404H OSGIN1_ENST00000393306.1_Missense_Mutation_p.D321H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D321H Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 404 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGCCGTGGACGACCCTGGCCT 0.652000 4 46 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34151830 34151830 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:34151830G>C ENST00000389232.4 + 100 14267 c.14197G>C c.(14197-14199)Gaa>Caa p.E4733Q RYR3_ENST00000415757.3_Missense_Mutation_p.E4728Q|RP11-3D4.2_ENST00000560268.1_RNA NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4733 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity 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) CATTGGTGATGAAATTGAAGA 0.423000 4 41 0 0 0.009096 0 0 OR52E8 390079 broad.mit.edu 37 11 5878756 5878756 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:5878756C>A ENST00000537935.1 - 1 208 c.177G>T c.(175-177)caG>caT p.Q59H TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGAGACTCTGCTCAGTCT 0.468000 21 117 1.64113e-05 2.02192e-05 0.010504 1 0 ADCY9 115 broad.mit.edu 37 16 4164189 4164189 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:4164189G>A ENST00000294016.3 - 2 1793 c.1255C>T c.(1255-1257)Ctg>Ttg p.L419L NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 419 Guanylate cyclase 1. 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 integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AGATCGTTCAGGAGACCCACC 0.532000 10 65 0 0 0.006214 0 0 IGLV1-40 28825 broad.mit.edu 37 22 22764329 22764329 + RNA SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr22:22764329C>T ENST00000390299.2 + 0 122 TCTGTGCTGACGCAGCCGCCC 0.577000 OREG0026360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 172 0 0 0.003080 0 0 PRDM9 56979 broad.mit.edu 37 5 23526991 23526991 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:23526991C>A ENST00000296682.3 + 11 1976 c.1794C>A c.(1792-1794)caC>caA p.H598Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 598 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding 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 TCCTCACTCACCAGAGGACAC 0.597000 HNSCC(3;0.000094) 11 104 3.52763e-06 4.43306e-06 0.004990 1 0 OTOGL 283310 broad.mit.edu 37 12 80750261 80750261 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:80750261G>T ENST00000458043.2 + 47 5851 c.5845G>T c.(5845-5847)Ggc>Tgc p.G1949C OTOGL_ENST00000547103.1_Missense_Mutation_p.G1937C|OTOGL_ENST00000546620.1_5'UTR NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATTGATTGTTGGCCACAGTCC 0.323000 4 58 0.00024832 0.000286289 0.009096 1 0 KCNU1 157855 broad.mit.edu 37 8 36766899 36766899 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:36766899C>G ENST00000399881.3 + 21 2214 c.2177C>G c.(2176-2178)tCa>tGa p.S726* NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 726 Segment S9. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GATGCCCACTCAGCCCCGATG 0.468000 33 236 0 0 0.004289 0 0 C11orf54 28970 broad.mit.edu 37 11 93488502 93488502 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:93488502C>T ENST00000528288.1 + 6 692 c.457C>T c.(457-459)Cag>Tag p.Q153* C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000331239.4_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Q134* NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 153 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCATGATTTTCAGTGTGCATT 0.423000 4 42 0 0 0.009096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905639 54905639 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:54905639G>A ENST00000474759.1 + 18 1748 c.1700G>A c.(1699-1701)cGa>cAa p.R567Q CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R473Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R567Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 567 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGGGAAGACCGAGATGACGTG 0.493000 4 47 0 0 0.001168 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047774 42047774 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:42047774C>G ENST00000372584.1 - 3 3709 c.2695G>C c.(2695-2697)Gag>Cag p.E899Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 899 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCAGCTTCTCAGCTGGGAGC 0.622000 8 86 0 0 0.004482 0 0 TG 7038 broad.mit.edu 37 8 133883593 133883593 + Splice_Site SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:133883593G>T ENST00000220616.4 + 4 315 c.274_splice c.e4-1 p.C92_splice TG_ENST00000377869.1_Splice_Site_p.C92_splice NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 92 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTACCCACAGGTCTGTCATTT 0.507000 13 95 1.5842e-08 2.14066e-08 0.001855 1 0 ANK2 287 broad.mit.edu 37 4 114274912 114274912 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:114274912A>T ENST00000357077.4 + 38 5191 c.5138A>T c.(5137-5139)aAa>aTa p.K1713I ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K1680I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1680 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding 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) GAAAAGCAGAAACAAAAAGAG 0.403000 8 114 0 0 0.004482 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606644 13606644 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:13606644G>C ENST00000040738.5 - 10 2015 c.1880C>G c.(1879-1881)cCa>cGa p.P627R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 627 Lys-rich. DNA binding AGGTTTACTTGGTTCACTTTT 0.353000 7 51 0 0 0.001984 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685379 125685379 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:125685379C>A ENST00000371126.1 - 1 1455 c.1213G>T c.(1213-1215)Gcc>Tcc p.A405S NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 405 p.A405S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTGCCACAGGCAAGCCTGAGC 0.557000 15 110 1.5739e-10 2.17348e-10 0.004007 1 0 RUSC1 23623 broad.mit.edu 37 1 155292113 155292113 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:155292113C>A ENST00000368352.5 + 2 700 c.549C>A c.(547-549)aaC>aaA p.N183K RUSC1_ENST00000368354.3_Missense_Mutation_p.N183K|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 183 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CGAACTGCAACGCCCTGACCA 0.627000 6 104 0.00307968 0.00342489 0.003080 1 0 LDOC1 23641 broad.mit.edu 37 X 140270995 140270995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:140270995G>C ENST00000370526.2 - 1 315 c.212C>G c.(211-213)aCg>aGg p.T71R LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 71 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GTAAGACGCCGTCTGCACGAT 0.622000 9 91 0 0 0.004482 0 0 KCNA4 3739 broad.mit.edu 37 11 30033664 30033664 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:30033664C>A ENST00000328224.6 - 2 1795 c.562G>T c.(562-564)Gag>Tag p.E188* NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 188 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.E188K(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATTTGGGTCTCAAAGCGTAGG 0.498000 15 39 1.3612e-06 1.75145e-06 0.003163 1 0 ZNF521 25925 broad.mit.edu 37 18 22804498 22804498 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr18:22804498C>T ENST00000361524.3 - 4 3532 c.3384G>A c.(3382-3384)gaG>gaA p.E1128E ZNF521_ENST00000538137.2_Silent_p.E1128E|ZNF521_ENST00000584787.1_Silent_p.E908E NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1128 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCCTTTCCCCTCAATGGCAC 0.542000 T PAX5 ALL 9 51 0 0 0.004482 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 44 0 0 0.009096 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481446 140481446 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140481446T>A ENST00000231130.2 + 1 1213 c.1213T>A c.(1213-1215)Tca>Aca p.S405T AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 405 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCCTAGTGTCAGAAGGCGC 0.468000 7 67 0 0 0.001984 0 0 KCNMA1 3778 broad.mit.edu 37 10 78637593 78637593 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:78637593G>C ENST00000404771.3 - 30 3886 c.3771C>G c.(3769-3771)atC>atG p.I1257M KCNMA1_ENST00000372440.1_3'UTR|KCNMA1_ENST00000372443.1_3'UTR Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 0 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCATGGGCTTGATTTGAATGT 0.403000 3 7 0 0 0.004672 0 0 TM2D1 83941 broad.mit.edu 37 1 62190779 62190779 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:62190779C>G ENST00000371177.2 - 1 26 c.14G>C c.(13-15)tGg>tCg p.W5S TM2D1_ENST00000371180.2_Missense_Mutation_p.W67S|TM2D1_ENST00000606498.1_Missense_Mutation_p.W5S|TM2D1_ENST00000294613.5_Missense_Mutation_p.W5S Q9BX74 TM2D1_HUMAN TM2 domain containing 1 5 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 ACCAGACGGCCAGGCGGCCGC 0.652000 7 81 0 0 0.004482 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 58 0 0 0.000602 0 0 TNS4 84951 broad.mit.edu 37 17 38643291 38643291 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:38643291C>A ENST00000254051.6 - 4 1443 c.1285G>T c.(1285-1287)Gag>Tag p.E429* NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 429 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GACGTACCCTCTGGGCATGTG 0.512000 23 347 6.21321e-17 9.04394e-17 0.002780 1 0 GABRE 2564 broad.mit.edu 37 X 151124235 151124235 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:151124235G>C ENST00000370325.1 - 7 935 c.882C>G c.(880-882)ctC>ctG p.L294L GABRE_ENST00000370328.3_Silent_p.L294L|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 294 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAACCCAGGAGAGCATCGTGG 0.498000 7 105 0 0 0.001984 0 0 ZNF526 116115 broad.mit.edu 37 19 42729969 42729969 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:42729969C>T ENST00000301215.3 + 3 1639 c.1414C>T c.(1414-1416)Cac>Tac p.H472Y NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) TGAACGGCGTCACCGCTGTGG 0.652000 12 107 0 0 0.002450 0 0 LRP2 4036 broad.mit.edu 37 2 170042448 170042448 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:170042448C>G ENST00000263816.3 - 50 9695 c.9410G>C c.(9409-9411)tGt>tCt p.C3137S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3137 EGF-like 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCAGGACGACAGGAACAATA 0.438000 7 66 0 0 0.001984 0 0 NID1 4811 broad.mit.edu 37 1 236205225 236205225 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:236205225C>G ENST00000264187.6 - 4 1202 c.1120G>C c.(1120-1122)Gag>Cag p.E374Q NID1_ENST00000366595.3_Missense_Mutation_p.E374Q NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 374 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTGTTTCCTCAACTTCATCC 0.512000 11 67 0 0 0.010729 0 0 OR5L1 219437 broad.mit.edu 37 11 55579362 55579362 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:55579362G>T ENST00000333973.2 + 1 509 c.420G>T c.(418-420)gtG>gtT p.V140V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTTGGAAGGTGCGTGTGGAGC 0.502000 14 106 0.000151284 0.000177677 0.001855 1 0 ELF2 1998 broad.mit.edu 37 4 139983041 139983041 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:139983041C>T ENST00000394235.2 - 8 1250 c.748G>A c.(748-750)Gaa>Aaa p.E250K ELF2_ENST00000510408.1_Missense_Mutation_p.E190K|ELF2_ENST00000379550.1_Missense_Mutation_p.E262K|ELF2_ENST00000265495.4_Missense_Mutation_p.E250K|ELF2_ENST00000379549.2_Missense_Mutation_p.E173K|ELF2_ENST00000358635.3_Missense_Mutation_p.E202K NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 262 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CCCATGGTTTCATAGTTCATG 0.358000 6 46 0 0 0.001984 0 0 CARM1 10498 broad.mit.edu 37 19 11032406 11032406 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:11032406G>A ENST00000327064.4 + 16 1990 c.1800G>A c.(1798-1800)ccG>ccA p.P600P CARM1_ENST00000344150.4_Silent_p.P577P NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 600 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGTCCATCCCGACCAACACCA 0.672000 8 84 0 0 0.006214 0 0 TRRAP 8295 broad.mit.edu 37 7 98528293 98528293 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:98528293G>C ENST00000359863.4 + 25 3640 c.3431G>C c.(3430-3432)cGc>cCc p.R1144P TRRAP_ENST00000355540.3_Missense_Mutation_p.R1144P|TRRAP_ENST00000446306.3_Missense_Mutation_p.R1143P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1144 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCGTGGAGCGCCTGTGTGCA 0.493000 16 186 0 0 0.004007 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760837 15760837 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:15760837G>A ENST00000221307.7 + 7 810 c.762G>A c.(760-762)caG>caA p.Q254Q CYP4F3_ENST00000591058.1_Silent_p.Q254Q|CYP4F3_ENST00000586182.1_Silent_p.Q254Q|CYP4F3_ENST00000585846.1_Silent_p.Q254Q|CYP4F3_ENST00000592424.1_3'UTR NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 254 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTGATGGGCAGCGTTTCCGCA 0.577000 37 103 0 0 0.005524 0 0 KCTD19 146212 broad.mit.edu 37 16 67325290 67325290 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:67325290G>T ENST00000304372.5 - 14 2542 c.2487C>A c.(2485-2487)gaC>gaA p.D829E NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 829 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCATGATGATGTCAGCCAGGA 0.517000 4 47 0.000602214 0.000679745 0.000602 1 0 ADCY1 107 broad.mit.edu 37 7 45614412 45614412 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:45614412G>T ENST00000297323.7 + 1 292 c.270G>T c.(268-270)ctG>ctT p.L90L ADCY1_ENST00000432715.1_Intron NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 90 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) cgcccggccTGGCCAAGGGCT 0.751000 4 20 0.00024832 0.000286289 0.009096 1 0 BAHCC1 57597 broad.mit.edu 37 17 79410070 79410070 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:79410070G>C ENST00000307745.7 + 9 1695 c.1695G>C c.(1693-1695)aaG>aaC p.K565N CTGAGGCCAAGCGCAAGTCCC 0.716000 4 42 0 0 0.009096 0 0 MUC4 4585 broad.mit.edu 37 3 195516684 195516684 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516684C>T ENST00000463781.3 - 2 2226 c.1767G>A c.(1765-1767)atG>atA p.M589I MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.M589I NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 594 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCGTTTTTATCATCTGAGTCA 0.478000 24 338 0 0 0.004656 0 0 HSPA12B 116835 broad.mit.edu 37 20 3725682 3725682 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:3725682G>C ENST00000254963.2 + 5 545 c.400G>C c.(400-402)Gcg>Ccg p.A134P HSPA12B_ENST00000542646.1_5'UTR NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 134 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 CCCCGAAGAGGCGCGGGACTG 0.622000 21 203 0 0 0.012319 0 0 GPT 2875 broad.mit.edu 37 8 145730156 145730156 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:145730156C>G ENST00000394955.2 + 3 478 c.255C>G c.(253-255)gtC>gtG p.V85V GPT_ENST00000528431.1_Silent_p.V85V NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 85 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTTCCCAGGTCTTGGCCCTCT 0.647000 29 296 0 0 0.009535 0 0 TP53I3 9540 broad.mit.edu 37 2 24305854 24305854 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:24305854C>T ENST00000238721.4 - 2 1161 c.307G>A c.(307-309)Gaa>Aaa p.E103K TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 103 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGCCCTTCGGGGACAGTG 0.652000 4 41 0 0 0.009096 0 0 TTYH3 80727 broad.mit.edu 37 7 2696097 2696097 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:2696097C>T ENST00000258796.7 + 11 1384 c.1179C>T c.(1177-1179)ctC>ctT p.L393L TTYH3_ENST00000403167.1_Silent_p.L222L|TTYH3_ENST00000407643.1_Silent_p.L361L NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 393 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) ACCTGGCCCTCTTCTCCTTCG 0.627000 10 84 0 0 0.006214 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47582495 47582495 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:47582495G>C ENST00000371917.4 + 8 994 c.994G>C c.(994-996)Gat>Cat p.D332H NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 332 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCCAGGAGTTGATGAAAACTC 0.483000 5 29 0 0 0.000602 0 0 SYNJ2 8871 broad.mit.edu 37 6 158492658 158492658 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:158492658G>C ENST00000355585.4 + 15 2040 c.1965G>C c.(1963-1965)aaG>aaC p.K655N SYNJ2_ENST00000367122.2_Missense_Mutation_p.K655N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K655N NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 655 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ACACAGTGAAGACGGGCATGG 0.612000 6 75 0 0 0.001984 0 0 UAP1 6675 broad.mit.edu 37 1 162557435 162557435 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:162557435A>T ENST00000271469.3 + 6 1307 c.1005A>T c.(1003-1005)gtA>gtT p.V335V UAP1_ENST00000367924.1_Silent_p.V335V|UAP1_ENST00000367925.1_Silent_p.V335V|UAP1_ENST00000367926.4_Silent_p.V335V Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 335 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCTTCACTGTACCATTTCTGA 0.418000 15 148 0 0 0.004007 0 0 RNF169 254225 broad.mit.edu 37 11 74547638 74547638 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:74547638C>T ENST00000299563.4 + 6 2003 c.1990C>T c.(1990-1992)Cag>Tag p.Q664* NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 664 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 GCAGAAGCTTCAGCAAGAGGA 0.537000 6 75 0 0 0.001168 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063206 41063206 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:41063206G>A ENST00000352632.3 + 26 5653 c.5567G>A c.(5566-5568)cGg>cAg p.R1856Q SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R532Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R599Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1856Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1856 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAGCGGAGGCGGCTGCCCCGC 0.647000 6 59 0 0 0.001168 0 0 COL13A1 1305 broad.mit.edu 37 10 71707089 71707089 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:71707089G>A ENST00000356340.3 + 36 2552 c.2016G>A c.(2014-2016)aaG>aaA p.K672K COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000398974.3_Silent_p.K660K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398964.3_Silent_p.K643K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398978.3_Silent_p.K672K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000354547.3_Silent_p.K650K Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 672 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CCGGGGACAAGGGAAACCGGG 0.527000 6 48 0 0 0.001984 0 0 DMD 1756 broad.mit.edu 37 X 32841411 32841411 + Splice_Site SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:32841411C>A ENST00000357033.4 - 5 564 c.e5+1 DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000288447.4_Splice_Site NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGATTCTTACCTGCCAGTGG 0.328000 5 113 3.59834e-05 4.3341e-05 0.001168 1 0 THAP9 79725 broad.mit.edu 37 4 83838125 83838125 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:83838125G>A ENST00000302236.5 + 5 811 c.760G>A c.(760-762)Ggt>Agt p.G254S LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 254 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ACCCAGTCCAGGTTTCAACAG 0.348000 7 74 0 0 0.001984 0 0 SELPLG 6404 broad.mit.edu 37 12 109017937 109017937 + Silent SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:109017937T>C ENST00000388962.3 - 2 306 c.147A>G c.(145-147)ctA>ctG p.L49L SELPLG_ENST00000228463.6_Silent_p.L65L|SELPLG_ENST00000550948.1_Silent_p.L49L NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 49 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 AATCATAATCTAGGTACTCAT 0.572000 3 54 0 0 0.009096 0 0 SGPL1 8879 broad.mit.edu 37 10 72633268 72633268 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:72633268C>T ENST00000373202.3 + 12 1420 c.1220C>T c.(1219-1221)gCc>gTc p.A407V NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 407 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TGTTGGGCTGCCTTGATGCAC 0.522000 6 114 0 0 0.001168 0 0 FAT4 79633 broad.mit.edu 37 4 126240995 126240995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:126240995G>C ENST00000394329.3 + 1 3442 c.3429G>C c.(3427-3429)caG>caC p.Q1143H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1143 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATGGTGCAGCCAGATTTTG 0.453000 6 113 0 0 0.001168 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124235710 124235710 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:124235710C>T ENST00000330342.3 + 16 2237 c.1989C>T c.(1987-1989)ctC>ctT p.L663L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 663 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TCCCTGTCCTCTTCTTGGGAA 0.502000 19 126 0 0 0.006122 0 0 TBX5 6910 broad.mit.edu 37 12 114793577 114793577 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:114793577C>G ENST00000310346.4 - 9 1983 c.1317G>C c.(1315-1317)ctG>ctC p.L439L TBX5_ENST00000405440.2_Silent_p.L439L|TBX5_ENST00000349716.5_Silent_p.L389L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 439 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCATGCCAGCCAGCCGAGGGA 0.662000 4 28 0 0 0.009096 0 0 OR7G2 390882 broad.mit.edu 37 19 9213383 9213383 + Nonsense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9213383A>T ENST00000305456.2 - 1 599 c.600T>A c.(598-600)tgT>tgA p.C200* NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GAGCCAGTTCACAGAAGAAGA 0.473000 6 48 0 0 0.001168 0 0 MBTD1 54799 broad.mit.edu 37 17 49280153 49280153 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:49280153A>G ENST00000586178.1 - 10 1315 c.972T>C c.(970-972)gaT>gaC p.D324D MBTD1_ENST00000415868.1_Silent_p.D324D|MBTD1_ENST00000376381.2_Silent_p.D324D NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 324 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CATCTGTTCTATCTTCGCTTT 0.423000 9 117 0 0 0.006214 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 4 71 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916873 178916873 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:178916873G>C ENST00000263967.3 + 2 417 c.260G>C c.(259-261)aGa>aCa p.R87T NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 87 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GATGAAACAAGACGACTTTGT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 63 0 0 0.009096 0 0 MTMR8 55613 broad.mit.edu 37 X 63445529 63445529 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:63445529A>T ENST00000453546.1 - 10 1216 c.1127T>A c.(1126-1128)aTg>aAg p.M376K ASB12_ENST00000362002.2_Start_Codon_SNP_p.M1K Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AACTATTCTCATTATGAGCAC 0.493000 3 8 0 0 0.004672 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509705 106509705 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:106509705C>G ENST00000359195.3 + 2 2009 c.1699C>G c.(1699-1701)Ctc>Gtc p.L567V PIK3CG_ENST00000496166.1_Missense_Mutation_p.L567V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.L567V NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 567 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACTTAACCCTCTCACAGCAGA 0.502000 5 55 0 0 0.000602 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982333 9982333 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:9982333G>T ENST00000506583.1 - 7 694 c.477C>A c.(475-477)taC>taA p.Y159* SLC2A9_ENST00000264784.3_Nonsense_Mutation_p.Y188*|SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.Y159* Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 188 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 TCTCACTAAGGTACATGGGGA 0.567000 8 31 4.68919e-08 6.24673e-08 0.008291 1 0 MYH1 4619 broad.mit.edu 37 17 10419566 10419566 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:10419566G>A ENST00000226207.5 - 4 392 c.298C>T c.(298-300)Cct>Tct p.P100S CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 100 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCACAGCAGGCTCGTGTAGA 0.463000 17 110 0 0 0.004990 0 0 C5orf15 56951 broad.mit.edu 37 5 133295282 133295282 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:133295282G>C ENST00000231512.3 - 2 771 c.569C>G c.(568-570)tCa>tGa p.S190* C5orf15_ENST00000507191.1_5'UTR NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 190 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TTCTATATTTGAGGATGGCAT 0.388000 7 50 0 0 0.001984 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603915 140603915 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140603915A>T ENST00000239449.4 + 1 838 c.838A>T c.(838-840)Aca>Tca p.T280S PCDHB14_ENST00000515856.2_Missense_Mutation_p.T127S NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 280 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATATCTTACACATTTTTCCA 0.408000 5 37 0 0 0.000602 0 0 EPHA3 2042 broad.mit.edu 37 3 89259011 89259011 + Splice_Site SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:89259011G>A ENST00000336596.2 + 3 380 c.153_splice c.e3-1 p.W52_splice EPHA3_ENST00000452448.2_Splice_Site_p.W52_splice|EPHA3_ENST00000494014.1_Splice_Site_p.W52_splice NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 52 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATTCTTCAGTGGGAAGAGATC 0.398000 TSP Lung(6;0.00050) 6 18 0 0 0.001168 0 0 MGA 23269 broad.mit.edu 37 15 42041491 42041491 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr15:42041491C>T ENST00000219905.7 + 17 5867 c.5686C>T c.(5686-5688)Cag>Tag p.Q1896* MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1857*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q1896*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1687* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1857 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTTGTGTCTCAGGCTGGTAC 0.438000 5 51 0 0 0.000602 0 0 CTD-2587H24.4 0 broad.mit.edu 37 19 55670627 55670627 + Nonstop_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:55670627C>G ENST00000587871.1 - 4 412 c.413G>C c.(412-414)tGa>tCa p.*138S DNAAF3_ENST00000524407.2_Missense_Mutation_p.D477H|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D524H|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D423H|DNAAF3_ENST00000527223.2_Missense_Mutation_p.D544H GCCAGGATGTCAAGGGGCGGA 0.647000 5 31 0 0 0.001168 0 0 POTEF 728378 broad.mit.edu 37 2 130877990 130877990 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:130877990G>A ENST00000357462.5 - 1 192 c.99C>T c.(97-99)ccC>ccT p.P33P POTEF_ENST00000360967.5_Silent_p.P33P|POTEF_ENST00000361163.4_Silent_p.P33P|POTEF_ENST00000409914.2_Silent_p.P33P A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 33 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCCTGCAGCAGGGGAAGCAAC 0.577000 26 246 0 0 0.006320 0 0 SEC24C 9632 broad.mit.edu 37 10 75525632 75525632 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:75525632C>T ENST00000339365.2 + 11 1603 c.1441C>T c.(1441-1443)Ctg>Ttg p.L481L SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L362L|SEC24C_ENST00000345254.4_Silent_p.L481L|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 481 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TGAGCTATCCCTGGGCTCTTA 0.517000 28 141 0 0 0.007291 0 0 TP53 7157 broad.mit.edu 37 17 7573991 7573991 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr17:7573991C>A ENST00000269305.4 - 10 1225 c.1036G>T c.(1036-1038)Gag>Tag p.E346* TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E346* NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 346 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> A (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.I332fs*5(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) TCCAAGGCCTCATTCAGCTCT 0.577000 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) 9 49 1.58986e-06 2.03179e-06 0.008291 1 0 GPR116 221395 broad.mit.edu 37 6 46826925 46826925 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:46826925G>C ENST00000283296.7 - 17 3003 c.2715C>G c.(2713-2715)ctC>ctG p.L905L GPR116_ENST00000456426.2_Silent_p.L763L|GPR116_ENST00000362015.4_Silent_p.L905L|GPR116_ENST00000545669.1_Silent_p.L334L|GPR116_ENST00000265417.7_Silent_p.L905L NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 905 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGATGGCTTGGAGAGTTGGGA 0.453000 8 64 0 0 0.003080 0 0 CERS4 79603 broad.mit.edu 37 19 8326635 8326635 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:8326635C>G ENST00000558331.1 + 11 1218 c.759C>G c.(757-759)ttC>ttG p.F253L CERS4_ENST00000251363.5_Missense_Mutation_p.F304L|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.F304L|CERS4_ENST00000595722.1_3'UTR Q9HA82 CERS4_HUMAN ceramide synthase 4 304 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCTACTACTTCTTCAACGGGC 0.552000 8 65 0 0 0.003080 0 0 CENPE 1062 broad.mit.edu 37 4 104084360 104084360 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:104084360C>T ENST00000265148.3 - 18 1865 c.1776G>A c.(1774-1776)aaG>aaA p.K592K CENPE_ENST00000380026.3_Silent_p.K567K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 592 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CCTGTAGCTTCTTAATCTGGT 0.328000 6 20 0 0 0.001168 0 0 CPNE5 57699 broad.mit.edu 37 6 36710137 36710137 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:36710137G>A ENST00000244751.2 - 21 2314 c.1690C>T c.(1690-1692)Cgc>Tgc p.R564C CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R272C NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 564 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GGACGCGGGCGAATGCCCTGT 0.687000 6 102 0 0 0.001168 0 0 MUC4 4585 broad.mit.edu 37 3 195518254 195518254 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195518254G>C ENST00000463781.3 - 2 656 c.197C>G c.(196-198)tCt>tGt p.S66C MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S66C NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 66 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCCTGATTAGAGGTCCTTGA 0.483000 6 153 0 0 0.001168 0 0 H2AFY2 55506 broad.mit.edu 37 10 71851671 71851671 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:71851671G>A ENST00000373255.4 + 4 702 c.438G>A c.(436-438)ggG>ggA p.G146G NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 146 Lys-rich. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 AGAAGGGGGGGAAGAAATCCA 0.587000 4 44 0 0 0.000602 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436574 6436574 + Missense_Mutation SNP C C T rs71584817 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:6436574C>T ENST00000449001.2 + 14 2223 c.1729C>T c.(1729-1731)Cgc>Tgc p.R577C PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R139C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R609C|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R609C NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 609 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GAGCCGTCTACGCCAAAGAGC 0.647000 6 156 0 0 0.001984 0 0 MARCO 8685 broad.mit.edu 37 2 119727727 119727727 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:119727727G>T ENST00000327097.4 + 3 372 c.237G>T c.(235-237)atG>atT p.M79I MARCO_ENST00000541757.1_Start_Codon_SNP_p.M1I NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 79 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCCTGGAGATGTATTTCCTCA 0.577000 13 78 6.31663e-08 8.35568e-08 0.003163 1 0 FERMT2 10979 broad.mit.edu 37 14 53325133 53325133 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:53325133C>T ENST00000395631.2 - 15 2221 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K FERMT2_ENST00000343279.4_Missense_Mutation_p.E676K|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Missense_Mutation_p.E669K|FERMT2_ENST00000553373.1_Missense_Mutation_p.E676K Q96AC1 FERM2_HUMAN fermitin family member 2 669 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) AACATCTCTTCATCTAAACTC 0.363000 9 60 0 0 0.010729 0 0 BAI3 577 broad.mit.edu 37 6 70070957 70070957 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:70070957G>T ENST00000370598.1 + 29 4613 c.3792G>T c.(3790-3792)gaG>gaT p.E1264D BAI3_ENST00000238918.8_Missense_Mutation_p.E470D|BAI3_ENST00000546190.1_Missense_Mutation_p.E228D NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1264 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTATGAATGAGCTTAGCAATC 0.423000 11 33 4.68919e-08 6.24673e-08 0.008291 1 0 MRPS22 56945 broad.mit.edu 37 3 139065737 139065737 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:139065737G>C ENST00000495075.1 + 4 622 c.190G>C c.(190-192)Gag>Cag p.E64Q MRPS22_ENST00000478464.1_Missense_Mutation_p.E23Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E64Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E63Q P82650 RT22_HUMAN mitochondrial ribosomal protein S22 64 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 TGGTAGCCCAGAGACCAAGAA 0.363000 4 44 0 0 0.009096 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683204 140683204 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140683204C>T ENST00000239451.4 - 1 408 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 77 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACCGAGTTTTCGGCGACGTAG 0.577000 15 84 0 0 0.002450 0 0 IFT122 55764 broad.mit.edu 37 3 129211017 129211017 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:129211017G>C ENST00000296266.3 + 18 2371 c.2179G>C c.(2179-2181)Gag>Cag p.E727Q IFT122_ENST00000347300.2_Missense_Mutation_p.E617Q|IFT122_ENST00000507564.1_Missense_Mutation_p.E668Q|IFT122_ENST00000440957.2_Missense_Mutation_p.E467Q|IFT122_ENST00000349441.2_Missense_Mutation_p.E565Q|IFT122_ENST00000348417.2_Missense_Mutation_p.E676Q|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E526Q NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 676 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.E727Q(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCGATATTTAGAGCTCATCAG 0.438000 9 135 0 0 0.006214 0 0 OR4A5 81318 broad.mit.edu 37 11 51411644 51411644 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:51411644C>A ENST00000319760.6 - 1 804 c.752G>T c.(751-753)tGt>tTt p.C251F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TATGAAAATACAGGGTACAAA 0.388000 6 30 0.00116845 0.00130713 0.001168 1 0 GAN 8139 broad.mit.edu 37 16 81399073 81399073 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr16:81399073G>A ENST00000248272.3 + 9 1654 c.1492G>A c.(1492-1494)Gag>Aag p.E498K GAN_ENST00000567335.1_3'UTR NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 498 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) CTACCATGATGAGTTTAAAAG 0.428000 9 86 0 0 0.004482 0 0 SOD1 6647 broad.mit.edu 37 21 33036154 33036154 + Missense_Mutation SNP G G T rs121912433 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr21:33036154G>T ENST00000270142.6 + 2 272 c.124G>T c.(124-126)Ggc>Tgc p.G42C SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.G23C NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble 42 G -> D (in ALS1).|G -> S (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 ACTGACTGAAGGCCTGCATGG 0.433000 15 80 2.48551e-13 3.56287e-13 0.004990 1 0 MYOM3 127294 broad.mit.edu 37 1 24406539 24406539 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:24406539G>A ENST00000330966.7 - 20 2718 c.2556C>T c.(2554-2556)gtC>gtT p.V852V MYOM3_ENST00000329601.7_Silent_p.V851V|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Silent_p.V851V Q5VTT5 MYOM3_HUMAN myomesin 3 851 Fibronectin type-III 5. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCTGGGGTGACCGGCTTCC 0.592000 6 66 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89521758 89521758 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:89521758G>C ENST00000336596.2 + 16 3060 c.2835G>C c.(2833-2835)aaG>aaC p.K945N EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 945 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATAGCCAAGATTTCCACAG 0.408000 TSP Lung(6;0.00050) 6 66 0 0 0.001168 0 0 PRUNE2 158471 broad.mit.edu 37 9 79520851 79520851 + Translation_Start_Site SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr9:79520851G>C ENST00000428286.1 - 0 152 PRUNE2_ENST00000376718.3_Missense_Mutation_p.S10C|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S10C Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TACCAGTTTAGATTTGGCGCG 0.532000 7 65 0 0 0.001984 0 0 MANEA 79694 broad.mit.edu 37 6 96034645 96034645 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:96034645G>T ENST00000358812.4 + 2 464 c.330G>T c.(328-330)tgG>tgT p.W110C MANEA_ENST00000369293.1_Missense_Mutation_p.W110C NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 110 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ATTACAGTTGGTATGGAAATC 0.363000 7 39 8.12818e-05 9.63624e-05 0.001984 1 0 MYOF 26509 broad.mit.edu 37 10 95111578 95111578 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:95111578G>C ENST00000371501.4 - 33 3629 c.3507C>G c.(3505-3507)ctC>ctG p.L1169L MYOF_ENST00000371502.4_Silent_p.L1169L|MYOF_ENST00000359263.4_Silent_p.L1169L|MYOF_ENST00000358334.5_Silent_p.L1156L Q9NZM1 MYOF_HUMAN myoferlin 1169 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGCTCCGATGGAGGAAACAGA 0.433000 5 38 0 0 0.001168 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710633 140710633 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr5:140710633G>A ENST00000517417.1 + 1 382 c.382G>A c.(382-384)Gac>Aac p.D128N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D128N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATATTAATGACAACACTCC 0.403000 24 130 0 0 0.003954 0 0 WNK1 65125 broad.mit.edu 37 12 992609 992609 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:992609C>G ENST00000537687.1 + 16 4961 c.4318C>G c.(4318-4320)Caa>Gaa p.Q1440E WNK1_ENST00000535572.1_Missense_Mutation_p.Q933E|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1678E|WNK1_ENST00000315939.6_Missense_Mutation_p.Q1180E|WNK1_ENST00000340908.4_Missense_Mutation_p.Q773E NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1180 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTTTGTGGATCAAGTGCGAGA 0.388000 3 39 0 0 0.004672 0 0 OR14C36 127066 broad.mit.edu 37 1 248512634 248512634 + Silent SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248512634T>G ENST00000317861.1 + 1 558 c.558T>G c.(556-558)tcT>tcG p.S186S NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TGAAGCTCTCTTGCTCTGACA 0.493000 10 78 0 0 0.008291 0 0 ZNF248 57209 broad.mit.edu 37 10 38121209 38121209 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:38121209C>G ENST00000395867.3 - 6 1624 c.1074G>C c.(1072-1074)ggG>ggC p.G358G ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TGAAATTACTCCCATTTTCAT 0.403000 29 89 0 0 0.005443 0 0 LZTS1 11178 broad.mit.edu 37 8 20110421 20110421 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:20110421C>A ENST00000381569.1 - 3 1378 c.1021G>T c.(1021-1023)Gag>Tag p.E341* LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E341*|LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E341* Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 341 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGCCGCTTCTCCTGCTGAAGC 0.647000 4 32 0.00024832 0.000286289 0.009096 1 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621545 99621545 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr7:99621545C>T ENST00000324306.6 + 2 650 c.416C>T c.(415-417)tCa>tTa p.S139L ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S103L|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 139 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTTGATTTATCAGGACAACAG 0.507000 7 68 0 0 0.003080 0 0 OR7G1 125962 broad.mit.edu 37 19 9226385 9226385 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:9226385C>T ENST00000293614.1 - 1 54 c.55G>A c.(55-57)Gag>Aag p.E19K OR7G1_ENST00000541538.1_Missense_Mutation_p.E19K Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E19*(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TCTGGGTCCTCTGTCACTTTC 0.433000 8 90 0 0 0.006214 0 0 PLCL1 5334 broad.mit.edu 37 2 198950567 198950567 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:198950567C>G ENST00000428675.1 + 2 2724 c.2326C>G c.(2326-2328)Cct>Gct p.P776A PLCL1_ENST00000437704.2_Missense_Mutation_p.P678A NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 776 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CAGTGATAATCCTATTTTTGA 0.393000 6 61 0 0 0.001168 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609007 115609007 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:115609007C>G ENST00000361384.2 - 2 2774 c.1857G>C c.(1855-1857)gaG>gaC p.E619D DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619D NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 619 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) AAAGCTGACTCTCATGTAAAG 0.403000 Other identified genes with known or suspected DNA repair function 9 86 0 0 0.008291 0 0 RP1L1 94137 broad.mit.edu 37 8 10468390 10468390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:10468390C>A ENST00000382483.3 - 4 3441 c.3218G>T c.(3217-3219)cGg>cTg p.R1073L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1073 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGAAGTGCCCGCAGGCTCAC 0.697000 5 21 0.000602214 0.000679745 0.000602 1 0 FGD5 152273 broad.mit.edu 37 3 14862303 14862303 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:14862303G>A ENST00000285046.5 + 1 1835 c.1725G>A c.(1723-1725)agG>agA p.R575R FGD5_ENST00000543601.1_Silent_p.R334R NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 575 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ATGACCACAGGATAAAGAGGA 0.557000 4 36 0 0 0.009096 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587954 68587954 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:68587954G>C ENST00000478136.1 + 4 797 c.307G>C c.(307-309)Gaa>Caa p.E103Q FAM19A1_ENST00000496687.1_Missense_Mutation_p.E103Q NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 103 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCCTTGCCTAGAAGGAGAAGA 0.438000 7 48 0 0 0.003080 0 0 EFCAB6 64800 broad.mit.edu 37 22 44178131 44178131 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr22:44178131G>C ENST00000262726.7 - 3 321 c.68C>G c.(67-69)tCa>tGa p.S23* EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATGGGGTCTTGAATGTGTAAA 0.373000 4 57 0 0 0.009096 0 0 DAPK3 1613 broad.mit.edu 37 19 3964802 3964802 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:3964802C>T ENST00000545797.2 - 3 493 c.250G>A c.(250-252)Gag>Aag p.E84K DAPK3_ENST00000301264.3_Missense_Mutation_p.E84K O43293 DAPK3_HUMAN death-associated protein kinase 3 84 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTTGTTCTCGAAGATGTCG 0.632000 14 86 0 0 0.001855 0 0 OR2J3 442186 broad.mit.edu 37 6 29079946 29079946 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr6:29079946G>T ENST00000377169.1 + 1 279 c.279G>T c.(277-279)aaG>aaT p.K93N NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K93N(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GCCCGGAAAAGACCATCTCTT 0.478000 12 159 2.80697e-09 3.83416e-09 0.010729 1 0 OR5M3 219482 broad.mit.edu 37 11 56237626 56237626 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:56237626C>A ENST00000312240.2 - 1 388 c.348G>T c.(346-348)atG>atT p.M116I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TATCAAAGGCCATCGCAGCAA 0.358000 5 71 0.000602214 0.000679745 0.000602 1 0 RFC5 5985 broad.mit.edu 37 12 118467620 118467620 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr12:118467620G>A ENST00000392542.2 + 11 1386 c.853G>A c.(853-855)Gca>Aca p.A285T RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Missense_Mutation_p.A221T|RFC5_ENST00000454402.2_Missense_Mutation_p.A306T NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 306 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACCAAAATGGCAGACATTGA 0.358000 10 99 0 0 0.001855 0 0 PARP2 10038 broad.mit.edu 37 14 20815046 20815046 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr14:20815046G>C ENST00000527915.1 + 4 342 c.337G>C c.(337-339)Gat>Cat p.D113H RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.D100H|PARP2_ENST00000250416.5_Missense_Mutation_p.D113H Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 113 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TGAAGGAAATGATGTCTATGA 0.368000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 5 40 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92086102 92086102 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:92086102C>A ENST00000298047.6 + 1 841 c.824C>A c.(823-825)tCg>tAg p.S275* FAT3_ENST00000525166.1_Nonsense_Mutation_p.S125*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S275*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S275* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 275 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) GTTCCTTTCTCGTTGGAAAAA 0.448000 TCGA Ovarian(4;0.039) 13 102 0.00010058 0.000118496 0.001368 1 0 MYPN 84665 broad.mit.edu 37 10 69926137 69926137 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr10:69926137C>A ENST00000358913.5 + 10 2175 c.1687C>A c.(1687-1689)Ccc>Acc p.P563T MYPN_ENST00000354393.2_Missense_Mutation_p.P288T|MYPN_ENST00000540630.1_Missense_Mutation_p.P563T NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 563 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCCCTCCCCACCCCACTCAGA 0.572000 11 42 5.16669e-11 7.1876e-11 0.010729 1 0 OR10G4 390264 broad.mit.edu 37 11 123886957 123886957 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:123886957C>T ENST00000320891.4 + 1 676 c.676C>T c.(676-678)Cgg>Tgg p.R226W NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 226 R -> Q (in dbSNP:rs11219408). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTCCATCCTGCGGATCCGCAC 0.517000 5 97 0 0 0.001984 0 0 ATP11C 286410 broad.mit.edu 37 X 138827966 138827966 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chrX:138827966G>T ENST00000370557.1 - 25 3897 c.2870C>A c.(2869-2871)aCa>aAa p.T957K ATP11C_ENST00000359686.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T963K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.T963K|ATP11C_ENST00000361648.2_Missense_Mutation_p.T963K Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 963 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AGCCAGAAATGTCCAATATAA 0.393000 8 62 1.06961e-07 1.40503e-07 0.003080 1 0 GPR148 344561 broad.mit.edu 37 2 131487352 131487352 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:131487352C>A ENST00000309926.4 + 1 710 c.628C>A c.(628-630)Cag>Aag p.Q210K NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 210 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CATGGGCACCCAGCCGGGATG 0.542000 14 90 3.27435e-08 4.39299e-08 0.002450 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137205 40137205 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:40137205G>T ENST00000278198.2 - 2 2601 c.638C>A c.(637-639)cCt>cAt p.P213H LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213H Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 213 regulation of axonogenesis integral to membrane protein binding 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) TGTGAGGTTAGGGATTTCCCG 0.458000 7 38 2.0095e-06 2.55939e-06 0.001984 1 0 NEK3 4752 broad.mit.edu 37 13 52707317 52707317 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr13:52707317C>T ENST00000452082.2 - 14 2724 c.1494G>A c.(1492-1494)ctG>ctA p.L498L NEK3_ENST00000339406.3_Silent_p.L494L|NEK3_ENST00000400357.2_Silent_p.L477L|NEK3_ENST00000378101.2_Silent_p.L494L P51956 NEK3_HUMAN NIMA-related kinase 3 494 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CTCGCTTCTTCAGCTCTGACA 0.498000 5 17 0 0 0.000602 0 0 MUC4 4585 broad.mit.edu 37 3 195516290 195516290 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:195516290C>G ENST00000463781.3 - 2 2620 c.2161G>C c.(2161-2163)Gat>Cat p.D721H MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D721H NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 726 A -> T (in dbSNP:rs3749331). cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGGTGGCATCATGGCTGCTG 0.612000 7 142 0 0 0.003080 0 0 CHD6 84181 broad.mit.edu 37 20 40054752 40054752 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:40054752C>A ENST00000373233.3 - 28 4287 c.4110G>T c.(4108-4110)aaG>aaT p.K1370N NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1370 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGTCATCCTTCTTTTCGCTAA 0.423000 7 179 5.18039e-06 6.44557e-06 0.003080 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145770662 145770662 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:145770662C>A ENST00000276826.5 - 5 2693 c.2492G>T c.(2491-2493)cGg>cTg p.R831L ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R831L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R831L|ARHGAP39_ENST00000528810.1_5'UTR Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 831 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GTCCATGTGCCGGTAGATGTA 0.627000 12 46 3.07112e-06 3.88527e-06 0.010729 1 0 SSU72 29101 broad.mit.edu 37 1 1500188 1500188 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:1500188C>T ENST00000359060.4 - 2 215 c.189G>A c.(187-189)caG>caA p.Q63Q SSU72_ENST00000291386.3_Silent_p.Q63Q Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 63 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CATTGTACATCTGGTCATATG 0.493000 10 105 0 0 0.006214 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791250 133791250 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:133791250G>A ENST00000321016.8 - 18 2600 c.2370C>T c.(2368-2370)ctC>ctT p.L790L IGSF9B_ENST00000533871.2_Silent_p.L790L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 790 integral to membrane|plasma membrane 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) ACGGCGCTCGGAGCGTGCGGA 0.657000 4 34 0 0 0.009096 0 0 CARM1 10498 broad.mit.edu 37 19 11031219 11031219 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:11031219C>T ENST00000327064.4 + 11 1494 c.1304C>T c.(1303-1305)tCa>tTa p.S435L CARM1_ENST00000344150.4_Missense_Mutation_p.S435L NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 435 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GACACGCTCTCAGGGACATGT 0.637000 4 44 0 0 0.009096 0 0 WDFY3 23001 broad.mit.edu 37 4 85731329 85731329 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr4:85731329G>A ENST00000322366.6 - 14 2463 c.2056C>T c.(2056-2058)Cac>Tac p.H686Y WDFY3_ENST00000295888.4_Missense_Mutation_p.H686Y|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 686 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACACAGTGTGAAGAAGTTCA 0.448000 9 63 0 0 0.006214 0 0 EIF6 3692 broad.mit.edu 37 20 33867900 33867900 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:33867900C>G ENST00000374450.3 - 5 655 c.391G>C c.(391-393)Gat>Cat p.D131H EIF6_ENST00000374443.3_Missense_Mutation_p.D112H|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Missense_Mutation_p.D131H NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 131 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTGAGCACATCTGCCAGAATT 0.507000 6 172 0 0 0.003080 0 0 NES 10763 broad.mit.edu 37 1 156640010 156640010 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:156640010G>A ENST00000368223.3 - 4 4102 c.3970C>T c.(3970-3972)Caa>Taa p.Q1324* NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1324 Tail. DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCTCCCCTTGAGGGGGTGGC 0.662000 8 136 0 0 0.003080 0 0 CAPN13 92291 broad.mit.edu 37 2 30966341 30966341 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:30966341C>A ENST00000295055.8 - 13 1529 c.1353G>T c.(1351-1353)ctG>ctT p.L451L CAPN13_ENST00000534090.2_Silent_p.L451L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 451 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity 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) TCCCAGGGCTCAGATGGTAAG 0.463000 27 168 7.92952e-12 1.12385e-11 0.003954 1 0 THUMPD2 80745 broad.mit.edu 37 2 39963894 39963894 + Missense_Mutation SNP G G A rs145653260 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr2:39963894G>A ENST00000505747.1 - 10 1520 c.1493C>T c.(1492-1494)tCg>tTg p.S498L THUMPD2_ENST00000260619.6_Missense_Mutation_p.S468L NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 498 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) AGAAGAGTGCGACTTCTTATA 0.448000 4 36 0 0 0.009096 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137206 40137206 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr11:40137206G>T ENST00000278198.2 - 2 2600 c.637C>A c.(637-639)Cct>Act p.P213T LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 213 regulation of axonogenesis integral to membrane protein binding p.P213T(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) GTGAGGTTAGGGATTTCCCGA 0.458000 8 39 1.06961e-07 1.40503e-07 0.003080 1 0 CAMSAP2 23271 broad.mit.edu 37 1 200776585 200776585 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:200776585G>T ENST00000358823.2 + 3 751 c.481G>T c.(481-483)Gct>Tct p.A161S CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A161S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A161S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 161 cytoplasm|microtubule protein binding AATTGCGTGTGCTCAGCAGTA 0.383000 7 43 8.12818e-05 9.63624e-05 0.001984 1 0 C9orf129 445577 broad.mit.edu 37 9 96080730 96080730 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:96080730G>A ENST00000375419.1 - 5 904 c.541C>T c.(541-543)Ccg>Tcg p.P181S WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron NM_001098808.1 NP_001092278.1 Q5T035 CI129_HUMAN chromosome 9 open reading frame 129 181 endometrium(2)|large_intestine(1)|lung(1)|ovary(2) 6 CACACTGGCGGAGCTGCTTGC 0.612000 8 86 0 0 0.006214 0 0 PRKCH 5583 broad.mit.edu 37 14 61997242 61997242 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:61997242G>A ENST00000332981.5 + 12 2075 c.1690G>A c.(1690-1692)Gag>Aag p.E564K PRKCH_ENST00000555082.1_Missense_Mutation_p.E403K|RP11-47I22.4_ENST00000556347.1_Silent_p.L68L NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 564 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGACCTCTTTGAGGCCATACT 0.522000 12 86 0 0 0.001855 0 0 DNAH7 56171 broad.mit.edu 37 2 196740445 196740445 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:196740445C>A ENST00000312428.6 - 38 6340 c.6240G>T c.(6238-6240)atG>atT p.M2080I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2080 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTAGTTTAATCATGGAACAAT 0.418000 9 32 3.09899e-07 4.0459e-07 0.004482 1 0 ABCC6 368 broad.mit.edu 37 16 16302622 16302622 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:16302622C>G ENST00000205557.7 - 7 786 c.757G>C c.(757-759)Gaa>Caa p.E253Q ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 253 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CACTCCTTTTCAAGCCGGGAA 0.542000 9 85 0 0 0.004482 0 0 RLIM 51132 broad.mit.edu 37 X 73811920 73811920 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:73811920C>G ENST00000332687.6 - 4 1448 c.1230G>C c.(1228-1230)atG>atC p.M410I RLIM_ENST00000349225.2_Missense_Mutation_p.M410I NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 410 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAAAACCTGTCATTATCTGCC 0.408000 8 91 0 0 0.004482 0 0 CARKD 55739 broad.mit.edu 37 13 111290831 111290831 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr13:111290831A>T ENST00000309957.2 + 10 1150 c.1136A>T c.(1135-1137)gAt>gTt p.D379V CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.I203F|CARKD_ENST00000424185.2_Missense_Mutation_p.I224F NM_001242881.1|NM_018210.3 NP_001229810.1|NP_060680.2 Q8IW45 CARKD_HUMAN carbohydrate kinase domain containing 0 NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 CTCCGACATGATCGCCGAGGT 0.632000 15 64 0 0 0.004007 0 0 CYP2A7 1549 broad.mit.edu 37 19 41383245 41383245 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:41383245C>G ENST00000301146.4 - 7 1552 c.1011G>C c.(1009-1011)aaG>aaC p.K337N CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.K286N NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 337 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GCTGCCGGTTCTTGCCGATCA 0.532000 6 59 0 0 0.004482 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763244 5763244 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:5763244G>C ENST00000414202.2 + 19 2408 c.2217G>C c.(2215-2217)ctG>ctC p.L739L KIAA1432_ENST00000251879.6_Silent_p.L739L|KIAA1432_ENST00000381532.2_Silent_p.L660L|KIAA1432_ENST00000449720.2_Silent_p.L623L|KIAA1432_ENST00000418622.3_Silent_p.L660L NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 739 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCCTCTGGCTGAGCTGTGGTG 0.532000 5 114 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70805797 70805797 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:70805797A>T ENST00000358731.4 + 17 3141 c.2878A>T c.(2878-2880)Act>Tct p.T960S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 960 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 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) TTTGAAAGCAACTGGAAATGA 0.428000 17 59 0 0 0.004007 0 0 OR2L13 284521 broad.mit.edu 37 1 248263108 248263108 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:248263108T>C ENST00000366478.2 + 3 768 c.431T>C c.(430-432)aTt>aCt p.I144T OR2L13_ENST00000358120.2_Missense_Mutation_p.I144T NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GTGAAGATGATTGGAGGCTCT 0.488000 26 206 0 0 0.003954 0 0 CD180 4064 broad.mit.edu 37 5 66479858 66479858 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:66479858G>C ENST00000256447.4 - 3 970 c.813C>G c.(811-813)ctC>ctG p.L271L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 271 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) ACATTTCACAGAGTCCCTTGA 0.463000 5 59 0 0 0.000602 0 0 EGFL8 80864 broad.mit.edu 37 6 32134567 32134567 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:32134567C>A ENST00000395512.1 + 4 419 c.314C>A c.(313-315)cCg>cAg p.P105Q EGFL8_ENST00000333845.6_Missense_Mutation_p.P105Q|PPT2-EGFL8_ENST00000422437.1_3'UTR Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 105 EMI. extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 AAGCGGCACCCGGGGGCGCTC 0.667000 3 43 0.004672 0.00515153 0.004672 1 0 IGKV1-9 28941 broad.mit.edu 37 2 89309562 89309562 + RNA SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:89309562C>T ENST00000493819.1 - 0 325 AATTCTGTCCCAGATCCACTG 0.478000 23 198 0 0 0.012319 0 0 HUWE1 10075 broad.mit.edu 37 X 53591666 53591666 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:53591666C>G ENST00000342160.3 - 50 7355 c.6898G>C c.(6898-6900)Gaa>Caa p.E2300Q HUWE1_ENST00000262854.6_Missense_Mutation_p.E2300Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2300 Glu-rich. 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 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 TCCTGCACTTCTGCTTCCCCA 0.517000 5 107 0 0 0.001984 0 0 CD93 22918 broad.mit.edu 37 20 23066051 23066051 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:23066051G>A ENST00000246006.4 - 1 926 c.779C>T c.(778-780)cCc>cTc p.P260L NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 260 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCATACTTGGGGCTGACACA 0.602000 14 172 0 0 0.002450 0 0 USP26 83844 broad.mit.edu 37 X 132160973 132160973 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:132160973C>G ENST00000511190.1 - 6 1745 c.1276G>C c.(1276-1278)Gac>Cac p.D426H USP26_ENST00000370832.1_Missense_Mutation_p.D426H|USP26_ENST00000406273.1_Missense_Mutation_p.D426H NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 426 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CCACTGGTGTCAGGATCATCA 0.378000 11 80 0 0 0.008291 0 0 ABLIM3 22885 broad.mit.edu 37 5 148632354 148632354 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:148632354G>A ENST00000506113.1 + 22 2374 c.1892G>A c.(1891-1893)aGa>aAa p.R631K ABLIM3_ENST00000309868.7_Missense_Mutation_p.R631K|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R598K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R520K|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R520K|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R536K|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R117K|RP11-331K21.1_ENST00000512647.2_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 631 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACTACAAGAGGAAGAAAC 0.488000 5 75 0 0 0.000602 0 0 PDZD2 23037 broad.mit.edu 37 5 32010523 32010523 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:32010523G>A ENST00000438447.1 + 6 1730 c.1342G>A c.(1342-1344)Gat>Aat p.D448N PDZD2_ENST00000282493.3_Missense_Mutation_p.D448N O15018 PDZD2_HUMAN PDZ domain containing 2 448 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCCTGGACTGATAACGAAGA 0.532000 8 76 0 0 0.003080 0 0 PFKL 5211 broad.mit.edu 37 21 45741720 45741720 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr21:45741720G>T ENST00000403390.1 + 14 1441 c.1441G>T c.(1441-1443)Gtg>Ttg p.V481L PFKL_ENST00000349048.4_Missense_Mutation_p.V434L P17858 K6PL_HUMAN phosphofructokinase, liver 434 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CACAGTATACGTGGTGCACGA 0.647000 19 85 5.03518e-11 7.06429e-11 0.007413 1 0 SSPO 23145 broad.mit.edu 37 7 149528279 149528279 + RNA SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:149528279G>T ENST00000378016.2 + 0 15198 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCACCAAAGGGACCTGTTACC 0.617000 4 24 1.23904e-05 1.5325e-05 0.000602 1 0 HSF2 3298 broad.mit.edu 37 6 122744757 122744757 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:122744757G>C ENST00000452194.1 + 10 1289 c.1102G>C c.(1102-1104)Gac>Cac p.D368H HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.D368H NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 368 Hydrophobic repeat HR-C. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TGACAGTATTGACTGCAGTTT 0.343000 7 61 0 0 0.004482 0 0 RBMX 27316 broad.mit.edu 37 X 135960088 135960088 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:135960088C>A ENST00000562646.1 - 4 528 c.374G>T c.(373-375)cGg>cTg p.R125L RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.R125L|RBMX_ENST00000570135.1_Intron P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 125 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GTGTCCTCCCCGTGAGGGAGG 0.547000 7 76 8.12818e-05 9.641e-05 0.001984 1 0 RASAL2 9462 broad.mit.edu 37 1 178421649 178421649 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:178421649C>G ENST00000448150.3 + 11 2635 c.1817C>G c.(1816-1818)tCa>tGa p.S606* RASAL2_ENST00000367649.3_Nonsense_Mutation_p.S624*|RASAL2_ENST00000462775.1_Nonsense_Mutation_p.S476* NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 476 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ATCAGTGCCTCATTATTTCTC 0.478000 10 200 0 0 0.006214 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600659 232600659 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:232600659C>G ENST00000366630.1 - 8 3105 c.2747G>C c.(2746-2748)aGa>aCa p.R916T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R916T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 916 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACATTCTCCTCTTTCGTAAAA 0.413000 4 53 0 0 0.000602 0 0 KIAA1045 23349 broad.mit.edu 37 9 34977173 34977173 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:34977173G>C ENST00000242315.3 + 6 1025 c.943G>C c.(943-945)Gag>Cag p.E315Q KIAA1045_ENST00000544237.1_Missense_Mutation_p.E315Q|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 315 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CAGTGAGGCAGAGTGCCGCCG 0.632000 8 104 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141680547 141680547 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:141680547G>T ENST00000389484.3 - 21 4277 c.3306C>A c.(3304-3306)tcC>tcA p.S1102S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1102 LDL-receptor class A 9. 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) TACTCCAACAGGAAAACTTGG 0.438000 TSP Lung(27;0.18) 7 41 5.18039e-06 6.47119e-06 0.003080 1 0 LRRC8C 84230 broad.mit.edu 37 1 90180404 90180404 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:90180404G>A ENST00000370454.4 + 3 2530 c.2275G>A c.(2275-2277)Gta>Ata p.V759I RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 759 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTACTTAGATGTAAAAGGTAA 0.393000 5 55 0 0 0.000602 0 0 CDH10 1008 broad.mit.edu 37 5 24498546 24498546 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:24498546G>T ENST00000264463.4 - 9 1983 c.1476C>A c.(1474-1476)ttC>ttA p.F492L CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 492 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AAGTGTCATAGAACACAGCAA 0.398000 HNSCC(23;0.051) 8 39 3.09899e-07 4.0459e-07 0.004482 1 0 TCEAL5 340543 broad.mit.edu 37 X 102529098 102529098 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:102529098G>A ENST00000372680.1 - 3 688 c.394C>T c.(394-396)Cag>Tag p.Q132* NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 AAGTCCTCCTGAGAGTCCTTG 0.532000 6 166 0 0 0.001984 0 0 BTBD9 114781 broad.mit.edu 37 6 38562074 38562074 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:38562074G>C ENST00000481247.1 - 3 366 c.215C>G c.(214-216)tCt>tGt p.S72C BTBD9_ENST00000314100.6_Missense_Mutation_p.S4C|BTBD9_ENST00000408958.1_Missense_Mutation_p.S4C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S13C|BTBD9_ENST00000403056.1_Missense_Mutation_p.S72C NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 72 BTB. cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 TTCAGGCTGAGACTCTCGCAT 0.428000 6 68 0 0 0.001168 0 0 U2AF2 11338 broad.mit.edu 37 19 56180086 56180086 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:56180086C>G ENST00000450554.2 + 9 1832 c.873C>G c.(871-873)gtC>gtG p.V291V U2AF2_ENST00000590551.1_Silent_p.V127V|U2AF2_ENST00000308924.4_Silent_p.V291V|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 291 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCAACCTGGTCAAGGACAGTG 0.632000 9 65 0 0 0.008291 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481446 140481446 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140481446T>A ENST00000231130.2 + 1 1213 c.1213T>A c.(1213-1215)Tca>Aca p.S405T AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 405 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCCTAGTGTCAGAAGGCGC 0.468000 7 67 0 0 0.001984 0 0 CCL16 6360 broad.mit.edu 37 17 34304721 34304721 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:34304721C>T ENST00000293275.3 - 3 319 c.244G>A c.(244-246)Gac>Aac p.D82N NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 82 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGACCCAGTCGTCATTGGGG 0.522000 8 110 0 0 0.004482 0 0 WNK1 65125 broad.mit.edu 37 12 1006841 1006841 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:1006841C>T ENST00000537687.1 + 25 7865 c.7222C>T c.(7222-7224)Ctt>Ttt p.L2408F WNK1_ENST00000315939.6_Missense_Mutation_p.L2148F|WNK1_ENST00000535572.1_Missense_Mutation_p.L1900F|WNK1_ENST00000530271.2_Missense_Mutation_p.L2646F|WNK1_ENST00000340908.4_Missense_Mutation_p.L1741F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2148 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAGCCCCCAGCTTTCAGGTAA 0.488000 3 25 0 0 0.004672 0 0 PAK7 57144 broad.mit.edu 37 20 9561232 9561232 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:9561232C>T ENST00000378429.3 - 5 1096 c.550G>A c.(550-552)Gag>Aag p.E184K PAK7_ENST00000353224.5_Missense_Mutation_p.E184K|PAK7_ENST00000378423.1_Missense_Mutation_p.E184K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 184 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTTCACCTCAGAATAGTAG 0.458000 12 117 0 0 0.001368 0 0 DDX4 54514 broad.mit.edu 37 5 55083796 55083796 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:55083796G>A ENST00000505374.1 + 15 1232 c.1140G>A c.(1138-1140)caG>caA p.Q380Q DDX4_ENST00000511853.1_Silent_p.Q231Q|DDX4_ENST00000354991.5_Silent_p.Q346Q|DDX4_ENST00000514278.2_Silent_p.Q360Q|DDX4_ENST00000353507.5_Silent_p.Q346Q NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 380 Helicase ATP-binding. Q -> K (in Ref. 5; AAH47455). multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGTCAACCAGATTTATTTGG 0.373000 3 28 0 0 0.009096 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53977961 53977961 + Missense_Mutation SNP G G C rs139014010 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:53977961G>C ENST00000263634.3 - 3 448 c.314C>G c.(313-315)cCt>cGt p.P105R GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P32R|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P143R|ASB3_ENST00000406625.2_Missense_Mutation_p.P140R|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P32R NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 140 intracellular signal transduction AGTTGCATTAGGATCTGCCCC 0.353000 9 45 0 0 0.006214 0 0 CNTRL 11064 broad.mit.edu 37 9 123919802 123919802 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:123919802G>C ENST00000373855.1 + 28 4680 c.4420G>C c.(4420-4422)Gag>Cag p.E1474Q CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1474Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E922Q Q7Z7A1 CNTRL_HUMAN centriolin 1474 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATTGCAAACTGAGTCAGATGC 0.408000 4 41 0 0 0.009096 0 0 CHD1L 9557 broad.mit.edu 37 1 146756095 146756095 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:146756095G>C ENST00000369258.4 + 16 1797 c.1777G>C c.(1777-1779)Gaa>Caa p.E593Q CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.E312Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E499Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E389Q NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 593 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) AAAATCATTTGAACAACTGGT 0.333000 8 88 0 0 0.006214 0 0 LCT 3938 broad.mit.edu 37 2 136547323 136547323 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:136547323G>A ENST00000264162.2 - 16 5391 c.5381C>T c.(5380-5382)gCg>gTg p.A1794V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1794 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATTGTCCATCGCACTCCAAAC 0.483000 13 128 0 0 0.001368 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604343 140604343 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140604343C>A ENST00000239449.4 + 1 1266 c.1266C>A c.(1264-1266)acC>acA p.T422T PCDHB14_ENST00000515856.2_Silent_p.T269T NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 422 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACGATCACCGTCACAGACT 0.498000 10 141 0.00621372 0.00683145 0.006214 1 0 MGA 23269 broad.mit.edu 37 15 42041375 42041375 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:42041375C>T ENST00000219905.7 + 17 5751 c.5570C>T c.(5569-5571)tCg>tTg p.S1857L MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000545763.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1818 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTCCACTTCGTCCTCTGCT 0.443000 6 81 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047735 42047735 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:42047735C>G ENST00000372584.1 - 3 3748 c.2734G>C c.(2734-2736)Gag>Cag p.E912Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.E912Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E912Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E912Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 912 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGGCCATCTCTGCCAGGCGC 0.592000 8 127 0 0 0.003080 0 0 SRGAP1 57522 broad.mit.edu 37 12 64437229 64437229 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:64437229A>G ENST00000355086.3 + 6 1199 c.675A>G c.(673-675)agA>agG p.R225R SRGAP1_ENST00000357825.3_Silent_p.R225R|SRGAP1_ENST00000543397.1_Silent_p.R185R|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 225 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CATTCCAGAGACAAGCAAAAT 0.333000 4 21 0 0 0.009096 0 0 MMP19 4327 broad.mit.edu 37 12 56232375 56232375 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:56232375G>A ENST00000409200.3 - 5 769 c.664C>T c.(664-666)Ctc>Ttc p.L222F MMP19_ENST00000322569.4_Intron|MMP19_ENST00000548629.1_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 0 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 ACAGCCTGGAGGGGAGGGGCC 0.617000 7 53 0 0 0.001984 0 0 AR 367 broad.mit.edu 37 X 66863140 66863140 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:66863140C>G ENST00000374690.3 + 2 2183 c.1659C>G c.(1657-1659)taC>taG p.Y553* AR_ENST00000396044.3_Nonsense_Mutation_p.Y553*|AR_ENST00000504326.1_Nonsense_Mutation_p.Y553*|AR_ENST00000396043.2_Nonsense_Mutation_p.Y21*|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 552 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGACTATTACTTTCCACCCC 0.468000 Androgen Insensitivity Syndrome 7 58 0 0 0.003080 0 0 BBS1 582 broad.mit.edu 37 11 66282012 66282012 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:66282012C>T ENST00000419755.3 + 4 484 c.406C>T c.(406-408)Ccc>Tcc p.P136S BBS1_ENST00000318312.7_Missense_Mutation_p.P99S|BBS1_ENST00000393994.2_Missense_Mutation_p.P99S|BBS1_ENST00000455748.2_Missense_Mutation_p.P99S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Silent_p.S2S GCAACATGAGCCCCGGACCCC 0.572000 13 184 0 0 0.001855 0 0 EPHA8 2046 broad.mit.edu 37 1 22915468 22915468 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:22915468T>C ENST00000166244.3 + 5 1156 c.1084T>C c.(1084-1086)Tac>Cac p.Y362H EPHA8_ENST00000538803.1_Missense_Mutation_p.Y362H|EPHA8_ENST00000374644.4_Missense_Mutation_p.Y362H NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 362 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGACATCACCTACAATGCCGT 0.657000 4 27 0 0 0.000602 0 0 TREM2 54209 broad.mit.edu 37 6 41126515 41126515 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:41126515A>C ENST00000373113.3 - 5 773 c.680T>G c.(679-681)cTg>cGg p.L227R TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000338469.3_Silent_p.A162A NM_018965.2 NP_061838.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 227 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) CGTGTCTCTCAGCCCTGCAAT 0.617000 10 93 0 0 0.006214 0 0 GPR98 84059 broad.mit.edu 37 5 89985761 89985761 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:89985761G>C ENST00000405460.2 + 30 6670 c.6574G>C c.(6574-6576)Gat>Cat p.D2192H NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2192 Calx-beta 15. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTCATTAATGATATCTATCC 0.393000 5 20 0 0 0.000602 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432960 140432960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140432960C>G ENST00000306549.3 + 1 1982 c.1905C>G c.(1903-1905)gaC>gaG p.D635E NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 635 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAGAGAGACCCCATGATGC 0.428000 7 107 0 0 0.004482 0 0 PDE3B 5140 broad.mit.edu 37 11 14865513 14865513 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:14865513C>A ENST00000282096.4 + 12 2814 c.2461C>A c.(2461-2463)Cat>Aat p.H821N PDE3B_ENST00000455098.2_Missense_Mutation_p.H770N NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 821 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGCTGCCATGCATGATTATGA 0.418000 23 62 1.42536e-11 2.02239e-11 0.004656 1 0 ALG13 79868 broad.mit.edu 37 X 110951607 110951607 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:110951607G>T ENST00000394780.3 + 4 748 c.736G>T c.(736-738)Gcc>Tcc p.A246S ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.A142S NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 246 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CCTCTTTCGGGCCATTTCGGA 0.448000 12 146 7.93312e-07 1.02857e-06 0.002450 1 0 ADCK2 90956 broad.mit.edu 37 7 140390572 140390572 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:140390572A>C ENST00000072869.4 + 7 1877 c.1699A>C c.(1699-1701)Agc>Cgc p.S567R ADCK2_ENST00000476491.1_Missense_Mutation_p.S567R NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 567 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TCATGTGTCCAGCCTTCTCTC 0.547000 26 293 0 0 0.006320 0 0 OR5B21 219968 broad.mit.edu 37 11 58275352 58275352 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:58275352G>A ENST00000360374.2 - 1 226 c.227C>T c.(226-228)gCc>gTc p.A76V NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CGTTTTGGGGGCTACAGCTGA 0.507000 6 54 0 0 0.003080 0 0 F8 2157 broad.mit.edu 37 X 154221309 154221309 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:154221309G>A ENST00000360256.4 - 4 703 c.503C>T c.(502-504)tCt>tTt p.S168F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 168 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAGTGGGTCAGAGGCCATTGG 0.463000 16 193 0 0 0.006122 0 0 MBOAT2 129642 broad.mit.edu 37 2 9008594 9008594 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:9008594C>G ENST00000305997.3 - 9 1167 c.969G>C c.(967-969)ttG>ttC p.L323F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 323 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGAATTCTCAAATTGGAAA 0.363000 8 58 0 0 0.003080 0 0 C19orf43 79002 broad.mit.edu 37 19 12842184 12842184 + Missense_Mutation SNP C C A rs11542951 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:12842184C>A ENST00000242784.4 - 2 514 c.397G>T c.(397-399)Gcc>Tcc p.A133S C19orf43_ENST00000588213.1_Missense_Mutation_p.S125I|C19orf43_ENST00000592273.1_Intron NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 133 endometrium(2)|large_intestine(2) 4 TGCTTCTTGGCTACTATTCCC 0.597000 11 58 3.07112e-06 3.90115e-06 0.010729 1 0 FIGN 55137 broad.mit.edu 37 2 164468312 164468312 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:164468312C>G ENST00000333129.3 - 3 344 c.30G>C c.(28-30)ttG>ttC p.L10F FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 10 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 ACTGCATCTTCAAGCCTAAGA 0.443000 3 42 0 0 0.004672 0 0 SDK2 54549 broad.mit.edu 37 17 71427671 71427671 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:71427671C>T ENST00000392650.3 - 11 1450 c.1450G>A c.(1450-1452)Gat>Aat p.D484N SDK2_ENST00000388726.3_Missense_Mutation_p.D484N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 484 Ig-like C2-type 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAGGCCTCATCGACCCCCCGA 0.597000 19 172 0 0 0.010504 0 0 BICC1 80114 broad.mit.edu 37 10 60566792 60566792 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:60566792G>A ENST00000373886.3 + 17 2254 c.2250G>A c.(2248-2250)gaG>gaA p.E750E BICC1_ENST00000263103.1_Silent_p.E376E NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 750 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TGGTGACGGAGGTCAGAACGC 0.398000 7 48 0 0 0.003080 0 0 STK11 6794 broad.mit.edu 37 19 1218415 1218415 + Splice_Site SNP G G T rs112675807 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:1218415G>T ENST00000326873.7 + 2 1463 c.e2-1 STK11_ENST00000585748.1_Splice_Site NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGTCCCAGGGAAATTCAA 0.522000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 23 106 3.62473e-10 5.01066e-10 0.012319 1 0 PCDH9 5101 broad.mit.edu 37 13 67801390 67801390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr13:67801390C>A ENST00000544246.1 - 2 1874 c.1183G>T c.(1183-1185)Gtg>Ttg p.V395L PCDH9_ENST00000377861.3_Missense_Mutation_p.V395L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V395L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V395L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V395L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 395 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTGCCATTCACATCTGTGTCC 0.373000 4 82 0.00909568 0.00982752 0.009096 1 0 MUC16 94025 broad.mit.edu 37 19 9061796 9061796 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:9061796C>T ENST00000397910.4 - 3 25853 c.25650G>A c.(25648-25650)ccG>ccA p.P8550P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8552 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGAAGGCTCGGCCATGGCA 0.498000 5 42 0 0 0.000602 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422873 37422873 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:37422873G>A ENST00000374660.1 + 5 578 c.479G>A c.(478-480)gGa>gAa p.G160E ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 216 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTATGTCATGGATCATCAGAG 0.378000 11 137 0 0 0.001368 0 0 GPR176 11245 broad.mit.edu 37 15 40093560 40093560 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:40093560C>A ENST00000299092.3 - 4 1516 c.1318G>T c.(1318-1320)Gaa>Taa p.E440* GPR176_ENST00000543580.1_Nonsense_Mutation_p.E396*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.E441* NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 441 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GTTTCAGGTTCCACAGGGGCT 0.592000 6 140 0.00116845 0.00130755 0.001168 1 0 SI 6476 broad.mit.edu 37 3 164757724 164757724 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:164757724G>C ENST00000264382.3 - 19 2257 c.2195C>G c.(2194-2196)aCt>aGt p.T732S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 732 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.T732N(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAAAAACTCAGTGTCCTCAAT 0.333000 HNSCC(35;0.089) 7 102 0 0 0.001984 0 0 SIRT7 51547 broad.mit.edu 37 17 79875977 79875977 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:79875977G>A ENST00000328666.6 - 1 93 c.31C>T c.(31-33)Cgc>Tgc p.R11C NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 11 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCGCTTTGCGCTCGGAGCGG 0.756000 5 39 0 0 0.001984 0 0 ZNF841 284371 broad.mit.edu 37 19 52568907 52568907 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:52568907C>A ENST00000389534.4 - 7 2687 c.2228G>T c.(2227-2229)gGg>gTg p.G743V ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.G627V|ZNF841_ENST00000594295.1_Missense_Mutation_p.G743V NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 AAAGACTTTCCCACATTCAAT 0.393000 7 12 8.12818e-05 9.641e-05 0.001984 1 0 COL27A1 85301 broad.mit.edu 37 9 116930955 116930955 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:116930955G>T ENST00000356083.3 + 3 1511 c.1120G>T c.(1120-1122)Gcc>Tcc p.A374S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 374 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAAGCCTTCGGCCCCTTCTAC 0.537000 10 99 1.58986e-06 2.04024e-06 0.008291 1 0 GHITM 27069 broad.mit.edu 37 10 85909813 85909813 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:85909813G>T ENST00000372134.3 + 7 788 c.595G>T c.(595-597)Gtg>Ttg p.V199L NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 199 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TTCTCCAGGTGTGATGGGTGC 0.433000 17 62 3.5997e-14 5.22582e-14 0.002299 1 0 NUP98 4928 broad.mit.edu 37 11 3733881 3733881 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:3733881C>G ENST00000324932.7 - 20 3075 c.2655G>C c.(2653-2655)aaG>aaC p.K885N NUP98_ENST00000397004.4_Missense_Mutation_p.K885N|NUP98_ENST00000397007.4_Missense_Mutation_p.K902N|NUP98_ENST00000355260.3_Missense_Mutation_p.K885N|NUP98_ENST00000359171.4_Missense_Mutation_p.K885N NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 902 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCTTCAACTTCTTTGTACTAG 0.478000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 109 0 0 0.008291 0 0 C17orf50 146853 broad.mit.edu 37 17 34091593 34091593 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:34091593G>A ENST00000285023.4 + 3 513 c.481G>A c.(481-483)Gat>Aat p.D161N C17orf50_ENST00000586491.1_Missense_Mutation_p.G131E|C17orf50_ENST00000588628.1_Missense_Mutation_p.G168E NM_145272.3 NP_660315.2 Q8WW18 CQ050_HUMAN chromosome 17 open reading frame 50 161 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCGTTCTGGATCACCCGGA 0.662000 12 23 0 0 0.003163 0 0 FREM2 341640 broad.mit.edu 37 13 39266294 39266294 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr13:39266294A>C ENST00000280481.7 + 1 5029 c.4813A>C c.(4813-4815)Aaa>Caa p.K1605Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1605 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AATCAGCTACAAACATGATGG 0.418000 4 67 0 0 0.009096 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378876 55378876 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:55378876G>T ENST00000398661.2 - 6 733 c.602C>A c.(601-603)tCt>tAt p.S201Y HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S171Y|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000370850.2_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 201 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GTGTCTTGCAGACTTAACAAC 0.338000 6 32 5.9392e-07 7.72713e-07 0.001168 1 0 MUC4 4585 broad.mit.edu 37 3 195518150 195518150 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:195518150G>C ENST00000463781.3 - 2 760 c.301C>G c.(301-303)Ctt>Gtt p.L101V MUC4_ENST00000475231.1_Missense_Mutation_p.L101V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 101 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAGAAAAAAGAGTTGATGTC 0.478000 7 75 0 0 0.001984 0 0 ATAD5 79915 broad.mit.edu 37 17 29205039 29205039 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:29205039G>A ENST00000321990.4 + 17 4315 c.3937G>A c.(3937-3939)Gaa>Aaa p.E1313K NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1313 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AATTTTTGATGAAGATGCTGG 0.284000 7 84 0 0 0.001984 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576991 158576991 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:158576991G>C ENST00000361284.1 + 1 763 c.763G>C c.(763-765)Gct>Cct p.A255P NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TTATGGCTGTGCTTCCTTCGT 0.512000 52 223 0 0 0.003610 0 0 ATP1B4 23439 broad.mit.edu 37 X 119513442 119513442 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:119513442G>A ENST00000218008.3 + 8 1084 c.1027G>A c.(1027-1029)Gat>Aat p.D343N ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 343 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TGTCATCAATGATCGTTTTGT 0.453000 6 84 0 0 0.001168 0 0 PKLR 5313 broad.mit.edu 37 1 155264172 155264172 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:155264172C>G ENST00000392414.3 - 7 990 c.877G>C c.(877-879)Gat>Cat p.D293H PKLR_ENST00000342741.4_Missense_Mutation_p.D324H NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 324 D -> N (in PKRD). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.D324N(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGGATTTCATCAAACCTGAGA 0.562000 5 48 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152284856 152284856 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:152284856C>T ENST00000368799.1 - 3 2541 c.2506G>A c.(2506-2508)Gat>Aat p.D836N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 836 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGACCATCTTGGGATGCT 0.587000 Ichthyosis 34 555 0 0 0.004878 0 0 ELF4 2000 broad.mit.edu 37 X 129201451 129201451 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:129201451A>C ENST00000308167.5 - 9 1616 c.1237T>G c.(1237-1239)Tcg>Gcg p.S413A ELF4_ENST00000335997.7_Missense_Mutation_p.S413A NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 413 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCGAGCCCGACCCCACGGGG 0.597000 T ERG AML 4 95 0 0 0.009096 0 0 CCBE1 147372 broad.mit.edu 37 18 57103325 57103325 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr18:57103325G>T ENST00000439986.4 - 11 1073 c.1036C>A c.(1036-1038)Cgc>Agc p.R346S CCBE1_ENST00000398179.2_Missense_Mutation_p.R75S NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 346 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.R346C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) ATGTCATTGCGGATGTCAGCC 0.522000 13 118 3.27435e-08 4.41275e-08 0.002450 1 0 ABCG4 64137 broad.mit.edu 37 11 119027683 119027683 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:119027683G>A ENST00000307417.3 + 9 1391 c.1027G>A c.(1027-1029)Gag>Aag p.E343K AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K|ABCG4_ENST00000449422.2_Missense_Mutation_p.E343K NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 343 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAGCAGCCCTGAGAAGAACGA 0.607000 8 104 0 0 0.006214 0 0 OR2G6 391211 broad.mit.edu 37 1 248685329 248685329 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:248685329C>A ENST00000343414.4 + 1 414 c.382C>A c.(382-384)Cgg>Agg p.R128R NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTGTCTGCCGGCCACTGCG 0.597000 17 57 1.15088e-07 1.51304e-07 0.004007 1 0 JAK1 3716 broad.mit.edu 37 1 65332689 65332689 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:65332689C>T ENST00000342505.4 - 7 1098 c.850G>A c.(850-852)Gaa>Aaa p.E284K NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 284 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAAATATTTCAGCACCGTAA 0.398000 Mis ALL 9 100 0 0 0.004482 0 0 INTS3 65123 broad.mit.edu 37 1 153740270 153740270 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:153740270C>T ENST00000456435.1 + 21 2779 c.1593C>T c.(1591-1593)ctC>ctT p.L531L INTS3_ENST00000435409.2_Silent_p.L737L|INTS3_ENST00000318967.2_Silent_p.L737L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.L531L Q68E01 INT3_HUMAN integrator complex subunit 3 738 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATGTGCGGCTCCTGTGCCACC 0.592000 7 74 0 0 0.003080 0 0 LZTS1 11178 broad.mit.edu 37 8 20110422 20110422 + Missense_Mutation SNP C C A rs147904321 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:20110422C>A ENST00000381569.1 - 3 1377 c.1020G>T c.(1018-1020)caG>caT p.Q340H LZTS1_ENST00000522290.1_Missense_Mutation_p.Q340H|LZTS1_ENST00000265801.6_Missense_Mutation_p.Q340H Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 340 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCCGCTTCTCCTGCTGAAGCT 0.642000 4 32 0.00024832 0.000286406 0.009096 1 0 KDM1B 221656 broad.mit.edu 37 6 18222215 18222215 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:18222215G>A ENST00000388870.2 + 22 2705 c.2464G>A c.(2464-2466)Gca>Aca p.A822T KDM1B_ENST00000297792.5_Missense_Mutation_p.A589T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A112T|KDM1B_ENST00000397244.1_Missense_Mutation_p.A590T Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 821 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 CAAGATTGCAGCATTTTAAGA 0.408000 5 51 0 0 0.000602 0 0 SNX15 29907 broad.mit.edu 37 11 64807160 64807160 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:64807160G>A ENST00000377244.3 + 8 1055 c.925G>A c.(925-927)Gac>Aac p.D309N SNX15_ENST00000301886.3_3'UTR NM_013306.4|NM_147777.3 NP_037438.2|NP_680086.2 Q9NRS6 SNX15_HUMAN sorting nexin 15 309 MIT. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 CTCCACAGGTGACCCGTTGCC 0.602000 5 14 0 0 0.001168 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528512 6528512 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:6528512G>A ENST00000377748.1 - 21 3112 c.2615C>T c.(2614-2616)tCt>tTt p.S872F PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S864F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S795F|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S851F|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S874F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S832F|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S795F NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 851 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGCGTGGCAGATGAGGCAGT 0.637000 5 22 0 0 0.001168 0 0 KCNH5 27133 broad.mit.edu 37 14 63174541 63174541 + Silent SNP C C A rs143147156 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:63174541C>A ENST00000322893.7 - 11 2920 c.2652G>T c.(2650-2652)ccG>ccT p.P884P KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 884 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGTGCTCTAGCGGACTTCGGG 0.502000 16 100 4.7546e-09 6.47729e-09 0.004007 1 0 TCF20 6942 broad.mit.edu 37 22 42605678 42605678 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr22:42605678C>A ENST00000359486.3 - 1 5770 c.5634G>T c.(5632-5634)gcG>gcT p.A1878A TCF20_ENST00000335626.4_Silent_p.A1878A|TCF20_ENST00000404876.1_Silent_p.A179A NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1878 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTATTTCCAGCGCTTCCTGCA 0.433000 5 116 3.59834e-05 4.33646e-05 0.001168 1 0 CSNK2A1 1457 broad.mit.edu 37 20 485802 485802 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:485802T>C ENST00000217244.3 - 4 548 c.173A>G c.(172-174)aAc>aGc p.N58S CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N58S|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N58S NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 58 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATTTGTGATGTTGATGGCTTC 0.313000 5 28 0 0 0.001168 0 0 TAGAP 117289 broad.mit.edu 37 6 159456967 159456967 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:159456967G>T ENST00000367066.3 - 10 2419 c.2088C>A c.(2086-2088)acC>acA p.T696T RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.T518T|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 696 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACTCGGAGACGGTCCTCAGCG 0.582000 10 38 2.17888e-05 2.65132e-05 0.006214 1 0 CPNE4 131034 broad.mit.edu 37 3 131388587 131388587 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:131388587G>A ENST00000512055.1 - 11 2739 c.613C>T c.(613-615)Cca>Tca p.P205S CPNE4_ENST00000511604.1_Missense_Mutation_p.P205S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P205S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P223S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P223S Q96A23 CPNE4_HUMAN copine IV 205 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTCCAGGCTGGGCTTAAGTTA 0.428000 6 80 0 0 0.001168 0 0 CNR1 1268 broad.mit.edu 37 6 88854258 88854258 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:88854258C>T ENST00000537554.1 - 2 4298 c.736G>A c.(736-738)Gtg>Atg p.V246M CNR1_ENST00000549716.1_Missense_Mutation_p.V185M|CNR1_ENST00000535130.1_Missense_Mutation_p.V246M|CNR1_ENST00000468898.1_Missense_Mutation_p.V213M|CNR1_ENST00000428600.2_Missense_Mutation_p.V246M|CNR1_ENST00000549890.1_Missense_Mutation_p.V246M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.V246M|CNR1_ENST00000369501.2_Missense_Mutation_p.V246M NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 246 V -> A (in Ref. 5; AAD34320). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACGGCGATCACAATGGCTATG 0.527000 7 57 0 0 0.003080 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132935 48132935 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:48132935G>A ENST00000405493.2 - 24 2535 c.2326C>T c.(2326-2328)Ctt>Ttt p.L776F RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L818F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L776F|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L709F|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L818F|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L776F NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 776 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCTTTGAGAAGAAGGGGCATG 0.602000 6 28 0 0 0.003080 0 0 CLCN3 1182 broad.mit.edu 37 4 170613428 170613428 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:170613428A>G ENST00000513761.1 + 7 1452 c.893A>G c.(892-894)tAc>tGc p.Y298C CLCN3_ENST00000504131.2_Missense_Mutation_p.Y281C|CLCN3_ENST00000360642.3_Missense_Mutation_p.Y298C|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y298C NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 298 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) ATCTTTTCCTACCTCTTTCCA 0.358000 8 107 0 0 0.003080 0 0 HELZ 9931 broad.mit.edu 37 17 65103325 65103325 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:65103325G>C ENST00000358691.5 - 31 5367 c.5201C>G c.(5200-5202)tCt>tGt p.S1734C HELZ_ENST00000580168.1_Missense_Mutation_p.S1735C NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACTGTTCGAGATGACAATGG 0.398000 7 147 0 0 0.001984 0 0 DLG1 1739 broad.mit.edu 37 3 196831852 196831852 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:196831852C>A ENST00000346964.2 - 15 1756 c.1567G>T c.(1567-1569)Gct>Tct p.A523S DLG1_ENST00000392382.2_Missense_Mutation_p.A490S|DLG1_ENST00000450955.1_Missense_Mutation_p.A490S|DLG1_ENST00000448528.2_Missense_Mutation_p.A523S|DLG1_ENST00000314062.3_Missense_Mutation_p.A472S|DLG1_ENST00000443183.1_Missense_Mutation_p.A407S|DLG1_ENST00000419354.1_Missense_Mutation_p.A523S|DLG1_ENST00000452595.1_Missense_Mutation_p.A407S|DLG1_ENST00000422288.1_Missense_Mutation_p.A472S|DLG1_ENST00000357674.4_Missense_Mutation_p.A490S NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 523 PDZ 3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCATGACTAGCAGCTCTGAGG 0.388000 4 47 0.00909568 0.00982752 0.009096 1 0 LRP1B 53353 broad.mit.edu 37 2 141680548 141680548 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:141680548G>T ENST00000389484.3 - 21 4276 c.3305C>A c.(3304-3306)tCc>tAc p.S1102Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1102 LDL-receptor class A 9. 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) ACTCCAACAGGAAAACTTGGT 0.443000 TSP Lung(27;0.18) 7 40 5.18039e-06 6.47119e-06 0.003080 1 0 KCNA4 3739 broad.mit.edu 37 11 30033840 30033840 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:30033840T>G ENST00000328224.6 - 2 1619 c.386A>C c.(385-387)gAg>gCg p.E129A NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 129 Poly-Glu. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ttcctcctcctcctcatcttc 0.547000 6 41 0 0 0.001168 0 0 AFF2 2334 broad.mit.edu 37 X 148037467 148037467 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:148037467C>A ENST00000370460.2 + 11 2371 c.1892C>A c.(1891-1893)cCc>cAc p.P631H AFF2_ENST00000342251.3_Missense_Mutation_p.P598H|AFF2_ENST00000286437.5_Missense_Mutation_p.P272H|AFF2_ENST00000370457.5_Missense_Mutation_p.P598H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 631 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAAAAACAGCCCAAAAAAGTT 0.433000 15 134 0.00244969 0.00273319 0.002450 1 0 ESRRB 2103 broad.mit.edu 37 14 76948464 76948464 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:76948464A>T ENST00000380887.2 + 4 692 c.620A>T c.(619-621)aAg>aTg p.K207M ESRRB_ENST00000556177.1_Missense_Mutation_p.K207M|ESRRB_ENST00000261532.7_Missense_Mutation_p.K207M|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.K207M A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCTGCTAAAAAGCCATGTGAG 0.542000 5 42 0 0 0.000602 0 0 MEGF8 1954 broad.mit.edu 37 19 42853690 42853690 + Missense_Mutation SNP A A C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:42853690A>C ENST00000334370.4 + 13 2772 c.2137A>C c.(2137-2139)Acg>Ccg p.T713P MEGF8_ENST00000251268.6_Missense_Mutation_p.T780P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 780 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGAGAAGGAGACGCGGCGGCT 0.647000 5 27 0 0 0.001168 0 0 ASXL2 55252 broad.mit.edu 37 2 25966745 25966745 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:25966745G>A ENST00000435504.4 - 13 2754 c.2461C>T c.(2461-2463)Cca>Tca p.P821S ASXL2_ENST00000404843.1_Missense_Mutation_p.P561S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P793S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P561S Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCCTTGTGGATGGCTGACA 0.522000 16 199 0 0 0.004007 0 0 KRT7 3855 broad.mit.edu 37 12 52635264 52635264 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:52635264A>T ENST00000331817.5 + 5 885 c.702A>T c.(700-702)acA>acT p.T234T NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 234 Coil 1B.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) AGGAGTTGACAGAGCTGCAGT 0.577000 4 64 0 0 0.001168 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883032 64883032 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:64883032G>C ENST00000279263.7 + 9 1220 c.1058G>C c.(1057-1059)gGa>gCa p.G353A TM7SF2_ENST00000345348.5_Missense_Mutation_p.G326A|TM7SF2_ENST00000540748.1_Missense_Mutation_p.G237A NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 353 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AACTATCTTGGAGACCTCATC 0.592000 3 50 0 0 0.004672 0 0 ZBTB12 221527 broad.mit.edu 37 6 31869005 31869005 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:31869005G>A ENST00000375527.2 - 2 253 c.78C>T c.(76-78)ctC>ctT p.L26L C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CCTCTGCCCGGAGCTGGTTCA 0.657000 4 36 0 0 0.009096 0 0 MID2 11043 broad.mit.edu 37 X 107160843 107160843 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:107160843C>A ENST00000262843.6 + 7 1857 c.1309C>A c.(1309-1311)Cag>Aag p.Q437K MID2_ENST00000443968.2_Missense_Mutation_p.Q437K|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 437 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CTATGAGCTTCAGTACACCAT 0.488000 18 274 3.52763e-06 4.45097e-06 0.004990 1 0 SNHG14 104472715 broad.mit.edu 37 15 25425721 25425721 + RNA SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:25425721G>A ENST00000441592.2 + 0 575 SNORD115-6_ENST00000363942.1_RNA ATTACGCTGAGGCCCAGCCTA 0.502000 8 273 0 0 0.010729 0 0 CADPS2 93664 broad.mit.edu 37 7 122131426 122131426 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:122131426C>T ENST00000334010.7 - 10 2012 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K CADPS2_ENST00000313070.7_Missense_Mutation_p.E531K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E531K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E531K NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 531 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCTTGTGGTTCAGACTTCTTT 0.353000 3 6 0 0 0.004672 0 0 HYOU1 10525 broad.mit.edu 37 11 118925964 118925964 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:118925964C>A ENST00000404233.3 - 5 476 c.352G>T c.(352-354)Gcc>Tcc p.A118S HYOU1_ENST00000529972.1_Missense_Mutation_p.A118S|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31S|HYOU1_ENST00000525859.1_Missense_Mutation_p.A118S NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 118 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGGAAGCGGGCCTGGTAAAGA 0.567000 16 102 8.60227e-14 1.24402e-13 0.004007 1 0 MAML1 9794 broad.mit.edu 37 5 179192956 179192956 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:179192956A>G ENST00000292599.3 + 2 1208 c.945A>G c.(943-945)ccA>ccG p.P315P MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 315 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGCTCTCCACAAGTGAGGG 0.552000 4 64 0 0 0.009096 0 0 DBF4B 80174 broad.mit.edu 37 17 42818707 42818707 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:42818707G>C ENST00000315005.3 + 10 855 c.717G>C c.(715-717)aaG>aaC p.K239N DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.K239N NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 239 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) GTTGCAGGAAGTTTCGTCCTT 0.493000 9 94 0 0 0.010729 0 0 TRIB1 10221 broad.mit.edu 37 8 126448348 126448348 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:126448348G>T ENST00000311922.3 + 3 1336 c.754G>T c.(754-756)Gag>Tag p.E252* TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E21*|TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E86* NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 252 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CGTGAGCCCTGAGATCCTCAA 0.532000 5 62 1.23904e-05 1.5325e-05 0.000602 1 0 SPATA32 124783 broad.mit.edu 37 17 43333147 43333147 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:43333147C>G ENST00000543122.1 - 6 1120 c.339G>C c.(337-339)cgG>cgC p.R113R MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|SPATA32_ENST00000331780.4_Silent_p.R134R|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA spermatogenesis associated 32 CCGTGAAACTCCGGCAGTTTG 0.567000 6 107 0 0 0.001168 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622209 234622209 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:234622209C>G ENST00000373414.3 + 1 572 c.572C>G c.(571-573)tCc>tGc p.S191C UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCAAACCCTTCCTCCTATATT 0.478000 14 201 0 0 0.001855 0 0 MUC4 4585 broad.mit.edu 37 3 195516687 195516687 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:195516687C>T ENST00000463781.3 - 2 2223 c.1764G>A c.(1762-1764)caG>caA p.Q588Q MUC4_ENST00000475231.1_Silent_p.Q588Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 593 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTTTTATCATCTGAGTCACAC 0.488000 25 335 0 0 0.005443 0 0 TARS2 80222 broad.mit.edu 37 1 150477190 150477190 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:150477190G>A ENST00000369064.3 + 15 1835 c.1801G>A c.(1801-1803)Gaa>Aaa p.E601K TARS2_ENST00000606933.1_Missense_Mutation_p.E519K|TARS2_ENST00000369054.2_Missense_Mutation_p.E471K NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 601 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) AGTGCTGGCAGAAAGCTGCGG 0.567000 8 153 0 0 0.003080 0 0 C10orf53 282966 broad.mit.edu 37 10 50916560 50916560 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:50916560G>A ENST00000374112.3 + 3 383 c.371G>A c.(370-372)gGa>gAa p.G124E C10orf53_ENST00000535836.1_Missense_Mutation_p.G124E NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 endometrium(1)|lung(6) 7 all_neural(218;0.107) gcccagattggatcatgtatc 0.488000 19 181 0 0 0.007413 0 0 DIS3L 115752 broad.mit.edu 37 15 66621441 66621441 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:66621441G>A ENST00000319194.5 + 13 2347 c.2086G>A c.(2086-2088)Gag>Aag p.E696K RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.E779K NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 779 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCCTGTGCGGAGGAGGAGTT 0.468000 5 61 0 0 0.000602 0 0 CFB 629 broad.mit.edu 37 6 31911243 31911243 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:31911243C>G ENST00000556679.1 + 9 1102 c.1047C>G c.(1045-1047)gtC>gtG p.V349V C2_ENST00000299367.5_Silent_p.V502V|C2_ENST00000469372.1_Silent_p.V256V|C2_ENST00000442278.2_Silent_p.V370V|CFB_ENST00000477310.1_Silent_p.V273V|CFB_ENST00000456570.1_Silent_p.V349V|C2_ENST00000452323.2_Silent_p.V288V P00751 CFAB_HUMAN complement factor B 521 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACCAATGGGTCCTGACAGCAG 0.597000 11 156 0 0 0.001855 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472433 69472433 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:69472433C>G ENST00000303714.4 + 18 1833 c.1511C>G c.(1510-1512)tCc>tGc p.S504C NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 504 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TACCACAcctcctcgccgcct 0.642000 Familial Infantile Hemangioma 3 53 0 0 0.009096 0 0 INSRR 3645 broad.mit.edu 37 1 156823675 156823675 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:156823675C>G ENST00000368195.3 - 2 902 c.506G>C c.(505-507)gGc>gCc p.G169A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 169 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGCTTGTTGCCCACGATGTG 0.637000 11 29 0 0 0.010729 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403713 47403713 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:47403713G>T ENST00000310638.4 - 2 323 c.292C>A c.(292-294)Cag>Aag p.Q98K CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q98K NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 98 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCATAGAGCTGGACACGAACT 0.517000 10 86 2.17888e-05 2.65132e-05 0.006214 1 0 GNA12 2768 broad.mit.edu 37 7 2771079 2771079 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:2771079G>A ENST00000275364.3 - 4 1044 c.882C>T c.(880-882)ttC>ttT p.F294F GNA12_ENST00000396960.3_Silent_p.F146F|GNA12_ENST00000544127.1_Silent_p.F201F|GNA12_ENST00000407653.1_Silent_p.F218F|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407904.3_Silent_p.F235F|GNA12_ENST00000491117.1_5'UTR NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 294 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TCTTGTTGAGGAAGAGAATGA 0.557000 6 64 0 0 0.001168 0 0 LIPC 3990 broad.mit.edu 37 15 58853108 58853108 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:58853108C>G ENST00000414170.3 + 8 1384 c.1097C>G c.(1096-1098)aCa>aGa p.T366R LIPC_ENST00000433326.2_Missense_Mutation_p.T305R|LIPC_ENST00000356113.6_Missense_Mutation_p.T366R|LIPC_ENST00000299022.5_Missense_Mutation_p.T366R P11150 LIPC_HUMAN lipase, hepatic 366 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.T366K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CAAACTGAGACACCAATACAA 0.393000 3 40 0 0 0.004672 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632712 122632712 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:122632712C>T ENST00000195173.4 - 15 2428 c.2125G>A c.(2125-2127)Gag>Aag p.E709K SEMA5B_ENST00000451055.2_Missense_Mutation_p.E763K|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E709K Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 709 TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CACCGTTCCTCCCGGCTCTTG 0.662000 8 95 0 0 0.008291 0 0 TTLL4 9654 broad.mit.edu 37 2 219602948 219602948 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:219602948C>G ENST00000392102.1 + 3 889 c.549C>G c.(547-549)ctC>ctG p.L183L TTLL4_ENST00000258398.4_Silent_p.L183L|TTLL4_ENST00000457313.1_Silent_p.L18L|TTLL4_ENST00000442769.1_Silent_p.L183L NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 183 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AACCATACCTCTGCTTGGCAG 0.567000 6 113 0 0 0.001168 0 0 PLG 5340 broad.mit.edu 37 6 161127552 161127552 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:161127552G>T ENST00000308192.9 + 2 226 c.163G>T c.(163-165)Gag>Tag p.E55* PLG_ENST00000366924.2_Nonsense_Mutation_p.E55*|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 55 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAAATGTGAGGAGGACGAAGA 0.428000 18 99 1.01871e-10 1.41865e-10 0.008871 1 0 GPR112 139378 broad.mit.edu 37 X 135426905 135426905 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:135426905C>A ENST00000394143.1 + 6 1331 c.1040C>A c.(1039-1041)tCt>tAt p.S347Y GPR112_ENST00000412101.1_Missense_Mutation_p.S142Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S142Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S347Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S284Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 347 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAATCTCCATCTTCAGAAAGC 0.393000 6 47 0.00116845 0.00130755 0.001168 1 0 ZNF592 9640 broad.mit.edu 37 15 85345225 85345225 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:85345225G>A ENST00000299927.3 + 8 3427 c.3405G>A c.(3403-3405)tcG>tcA p.S1135S ZNF592_ENST00000560079.2_Silent_p.S1135S Q92610 ZN592_HUMAN zinc finger protein 592 1135 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACAGACTCGGGGCTCGAGT 0.562000 5 43 0 0 0.000602 0 0 SPINK5 11005 broad.mit.edu 37 5 147473998 147473998 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:147473998G>C ENST00000359874.3 + 9 821 c.748G>C c.(748-750)Gac>Cac p.D250H SPINK5_ENST00000256084.7_Missense_Mutation_p.D250H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D250H|SPINK5_ENST00000476608.1_3'UTR NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 250 Kazal-like 4. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTGGCCCTGACGGCAGGAT 0.423000 4 94 0 0 0.000602 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:40316442T>G ENST00000593685.1 - 11 2271 c.1803A>C c.(1801-1803)ccA>ccC p.P601P DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000597639.1_Silent_p.P573P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716000 5 6 0 0 0.000602 0 0 CHIT1 1118 broad.mit.edu 37 1 203186907 203186907 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:203186907C>T ENST00000367229.1 - 10 1150 c.1116G>A c.(1114-1116)caG>caA p.Q372Q CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.Q363Q|CHIT1_ENST00000255427.3_Silent_p.Q353Q NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 372 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGTATCGGCCCTGGTTGCAGG 0.597000 4 61 0 0 0.000602 0 0 CACNA1S 779 broad.mit.edu 37 1 201009787 201009787 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:201009787G>T ENST00000362061.3 - 42 5415 c.5189C>A c.(5188-5190)gCa>gAa p.A1730E RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1711E NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1730 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGGGCATTGCCCTCTGGGT 0.607000 10 61 2.68362e-12 3.83666e-12 0.001368 1 0 C1QTNF9 338872 broad.mit.edu 37 13 24895869 24895869 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr13:24895869C>A ENST00000382071.2 + 4 1050 c.965C>A c.(964-966)aCa>aAa p.T322K C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T322K P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 322 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GACGATGACACAACTTTCACA 0.517000 16 172 0.000422831 0.000484709 0.004007 1 0 COL2A1 1280 broad.mit.edu 37 12 48372469 48372469 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:48372469C>T ENST00000380518.3 - 42 2970 c.2806G>A c.(2806-2808)Ggc>Agc p.G936S COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G867S NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 936 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCAGGGGGGCCGCTGTCTCCT 0.637000 6 33 0 0 0.001984 0 0 EIF6 3692 broad.mit.edu 37 20 33867912 33867912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:33867912C>T ENST00000374450.3 - 5 643 c.379G>A c.(379-381)Gaa>Aaa p.E127K EIF6_ENST00000374443.3_Missense_Mutation_p.E108K|EIF6_ENST00000374436.3_Missense_Mutation_p.E127K|EIF6_ENST00000462894.1_5'UTR NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 127 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCAGAATTTCTTCTGTCTCC 0.517000 6 156 0 0 0.001168 0 0 P2RY10 27334 broad.mit.edu 37 X 78216469 78216469 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:78216469G>C ENST00000171757.2 + 4 732 c.452G>C c.(451-453)gGc>gCc p.G151A P2RY10_ENST00000544091.1_Missense_Mutation_p.G151A|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 151 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TACGATGTGGGCATCAGTGCT 0.498000 23 71 0 0 0.012319 0 0 SV2C 22987 broad.mit.edu 37 5 75427941 75427941 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:75427941G>C ENST00000502798.2 + 2 808 c.366G>C c.(364-366)gaG>gaC p.E122D SV2C_ENST00000322285.7_Missense_Mutation_p.E122D NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 122 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACCGGCGGGAGCTGGAATCAG 0.547000 8 52 0 0 0.004482 0 0 ADCK1 57143 broad.mit.edu 37 14 78353523 78353523 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:78353523G>T ENST00000238561.5 + 5 612 c.513G>T c.(511-513)cgG>cgT p.R171R ADCK1_ENST00000341211.5_Silent_p.R103R NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 178 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATGATGGGCGGACGGTGGCCG 0.607000 8 98 0.000157383 0.000183777 0.003080 1 0 TRIML1 339976 broad.mit.edu 37 4 189068192 189068192 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:189068192G>T ENST00000332517.3 + 6 1213 c.1073G>T c.(1072-1074)tGc>tTc p.C358F TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 358 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding 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) GTGGGCATCTGCAAGGACTCT 0.537000 9 66 0.000274275 0.000315374 0.004482 1 0 MGLL 11343 broad.mit.edu 37 3 127439934 127439934 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:127439934G>A ENST00000434178.2 - 5 1338 c.442C>T c.(442-444)Ctg>Ttg p.L148L MGLL_ENST00000265052.5_Silent_p.L158L|MGLL_ENST00000453507.2_Silent_p.L158L|MGLL_ENST00000398104.1_Silent_p.L148L|MGLL_ENST00000398101.3_Silent_p.L122L Q99685 MGLL_HUMAN monoglyceride lipase 148 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity p.L148L(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GCAAGAACCAGAGGCGAAATG 0.552000 6 48 0 0 0.001984 0 0 BTBD10 84280 broad.mit.edu 37 11 13435091 13435091 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:13435091T>G ENST00000278174.5 - 6 1039 c.794A>C c.(793-795)aAa>aCa p.K265T BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 265 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) ATCTCTACATTTAATAGTGCT 0.323000 3 44 0 0 0.009096 0 0 TRIP13 9319 broad.mit.edu 37 5 908512 908512 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:908512A>T ENST00000166345.3 + 9 1158 c.802A>T c.(802-804)Acc>Tcc p.T268S NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 268 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CAGGGCGGGCACCGAGCCATC 0.557000 8 59 0 0 0.003080 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691969 31691969 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr21:31691969G>T ENST00000360542.3 - 1 638 c.385C>A c.(385-387)Ctc>Atc p.L129I NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 129 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TAACTATTGAGCAGCGGCCTC 0.537000 29 156 1.39806e-14 2.03748e-14 0.008361 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383027 7383027 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:7383027C>T ENST00000355637.4 + 1 277 c.25C>T c.(25-27)Ctg>Ttg p.L9L RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.L9L|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.L9L|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron NM_145893.2 NP_665900.1 Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 0 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGGAGTTCTCCTGCATCCTTA 0.483000 7 101 0 0 0.003080 0 0 GPR176 11245 broad.mit.edu 37 15 40093561 40093561 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:40093561C>T ENST00000299092.3 - 4 1515 c.1317G>A c.(1315-1317)gtG>gtA p.V439V GPR176_ENST00000543580.1_Silent_p.V395V|GPR176_ENST00000561100.1_Silent_p.V440V NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 440 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) TTTCAGGTTCCACAGGGGCTG 0.592000 6 142 0 0 0.001168 0 0 C17orf47 284083 broad.mit.edu 37 17 56621265 56621265 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:56621265C>G ENST00000321691.3 - 1 464 c.283G>C c.(283-285)Gaa>Caa p.E95Q RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 95 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGATGATTCTGTTCTTGGT 0.537000 5 55 0 0 0.000602 0 0 PACS1 55690 broad.mit.edu 37 11 65983614 65983614 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:65983614G>T ENST00000320580.4 + 5 718 c.685G>T c.(685-687)Gca>Tca p.A229S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 229 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TAATGAAGGCGCACTGGTGCT 0.537000 13 58 2.61681e-11 3.6851e-11 0.002450 1 0 GPRIN1 114787 broad.mit.edu 37 5 176025501 176025501 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:176025501C>A ENST00000303991.4 - 2 1512 c.1335G>T c.(1333-1335)gtG>gtT p.V445V NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 445 growth cone|plasma membrane 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) CTGCCTTTCCCACAGACACAC 0.532000 11 97 0.00010058 0.000118552 0.001368 1 0 MUC5B 727897 broad.mit.edu 37 11 1272009 1272009 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:1272009T>A ENST00000447027.1 + 31 13966 c.13908T>A c.(13906-13908)agT>agA p.S4636R MUC5B_ENST00000529681.1_Missense_Mutation_p.S4633R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4633 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ccacaaccagtggctccacgg 0.642000 7 29 0 0 0.006214 0 0 CRTAM 56253 broad.mit.edu 37 11 122738175 122738175 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:122738175G>T ENST00000227348.4 + 8 923 c.876G>T c.(874-876)acG>acT p.T292T CRTAM_ENST00000533709.1_Silent_p.T93T NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 292 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 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;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCTGCTCACGCTGGTGTCCT 0.418000 3 20 0.004672 0.00515153 0.004672 1 0 OR2T2 401992 broad.mit.edu 37 1 248616344 248616344 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:248616344G>T ENST00000342927.3 + 1 268 c.246G>T c.(244-246)atG>atT p.M82I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M82I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|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;0.0265) TCCCCAAGATGCTCCAGGACC 0.527000 11 200 6.31663e-08 8.39241e-08 0.003163 1 0 NGEF 25791 broad.mit.edu 37 2 233745891 233745891 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:233745891G>T ENST00000264051.3 - 14 2185 c.1907C>A c.(1906-1908)gCc>gAc p.A636D NGEF_ENST00000539537.1_Missense_Mutation_p.A359D|NGEF_ENST00000373552.4_Missense_Mutation_p.A544D NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 636 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GAGGATGTCGGCGAGCTCCAG 0.662000 13 73 2.61681e-11 3.6851e-11 0.002450 1 0 LOXL1 4016 broad.mit.edu 37 15 74219600 74219600 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:74219600C>G ENST00000261921.7 + 1 802 c.476C>G c.(475-477)tCg>tGg p.S159W LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 159 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 TCCTCGGTCTCGGCTTCGGCC 0.711000 7 76 0 0 0.003080 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655756 40655756 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:40655756G>T ENST00000406785.1 - 2 1854 c.1665C>A c.(1663-1665)atC>atA p.I555I SLC8A1_ENST00000406391.2_Silent_p.I555I|SLC8A1_ENST00000405901.3_Silent_p.I555I|SLC8A1_ENST00000542024.1_Silent_p.I555I|SLC8A1_ENST00000408028.2_Silent_p.I555I|SLC8A1_ENST00000542756.1_Silent_p.I555I|SLC8A1_ENST00000405269.1_Silent_p.I555I|SLC8A1_ENST00000403092.1_Silent_p.I555I|SLC8A1_ENST00000402441.1_Silent_p.I555I|SLC8A1_ENST00000332839.4_Silent_p.I555I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 555 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding 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) TCACCTCCATGATGCCAATGC 0.458000 9 97 2.17888e-05 2.65132e-05 0.006214 1 0 LRP1 4035 broad.mit.edu 37 12 57590912 57590912 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:57590912C>T ENST00000243077.3 + 56 9506 c.9040C>T c.(9040-9042)Cgc>Tgc p.R3014C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3014 EGF-like 12; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTATGCACCCCGCGGCGGCGA 0.637000 9 72 0 0 0.004482 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038216 5038216 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:5038216C>G ENST00000251170.7 + 4 460 c.280C>G c.(280-282)Ctc>Gtc p.L94V NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 94 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GAGGACGCTCCTCATCGAAGC 0.632000 5 38 0 0 0.000602 0 0 KIF19 124602 broad.mit.edu 37 17 72350304 72350304 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:72350304G>A ENST00000389916.4 + 18 2450 c.2312G>A c.(2311-2313)aGg>aAg p.R771K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 771 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCTGCAGAGAGGAAGGAGATC 0.662000 5 84 0 0 0.000602 0 0 OR5J2 282775 broad.mit.edu 37 11 55944298 55944298 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:55944298G>T ENST00000312298.1 + 1 205 c.205G>T c.(205-207)Gtg>Ttg p.V69L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TCTTTCATTTGTGGATGCCTG 0.443000 10 147 0.000442599 0.000504295 0.006214 1 0 HUWE1 10075 broad.mit.edu 37 X 53616620 53616620 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:53616620G>T ENST00000342160.3 - 35 4805 c.4348C>A c.(4348-4350)Ctt>Att p.L1450I HUWE1_ENST00000218328.8_Missense_Mutation_p.L1450I|HUWE1_ENST00000262854.6_Missense_Mutation_p.L1450I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1450 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 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 TCATCAAGAAGGTGGAAGCAG 0.468000 9 93 0.00448238 0.00497161 0.004482 1 0 ATF2 1386 broad.mit.edu 37 2 175957959 175957959 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:175957959T>C ENST00000264110.2 - 12 1313 c.1015A>G c.(1015-1017)Aca>Gca p.T339A ATF2_ENST00000538946.1_Missense_Mutation_p.T321A|ATF2_ENST00000345739.5_Missense_Mutation_p.T281A|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.T339A|ATF2_ENST00000426833.3_Missense_Mutation_p.T321A|ATF2_ENST00000409437.1_Missense_Mutation_p.T223A|ATF2_ENST00000409635.1_Missense_Mutation_p.T281A|ATF2_ENST00000409499.1_Intron NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 339 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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CGACCACTTGTACTTTGGGTC 0.413000 4 32 0 0 0.009096 0 0 GABRE 2564 broad.mit.edu 37 X 151128375 151128375 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:151128375C>A ENST00000370325.1 - 6 773 c.720G>T c.(718-720)tgG>tgT p.W240C GABRE_ENST00000393914.3_Missense_Mutation_p.W47C|GABRE_ENST00000370328.3_Missense_Mutation_p.W240C P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 240 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGAGCTTCCAGGAGTTCT 0.443000 8 81 0.000157383 0.000183777 0.003080 1 0 ZNF518B 85460 broad.mit.edu 37 4 10447569 10447569 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:10447569C>G ENST00000326756.3 - 3 822 c.384G>C c.(382-384)agG>agC p.R128S NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GCTTAAAGTTCCTTACCTTAA 0.373000 7 86 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20525659 20525659 + Missense_Mutation SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:20525659A>G ENST00000504154.1 + 14 1549 c.1297A>G c.(1297-1299)Att>Gtt p.I433V SLIT2_ENST00000503823.1_Missense_Mutation_p.I433V|SLIT2_ENST00000503837.1_Missense_Mutation_p.I437V|SLIT2_ENST00000273739.5_Missense_Mutation_p.I437V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 433 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GAACCCCTTTATTTGTGACTG 0.488000 6 146 0 0 0.003080 0 0 AC015849.16 0 broad.mit.edu 37 17 34236567 34236567 + RNA SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:34236567G>A ENST00000587132.1 - 0 1460 CTGGAGTGATGATAAACCCCA 0.473000 6 33 0 0 0.001168 0 0 SH3TC2 79628 broad.mit.edu 37 5 148411177 148411177 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:148411177C>G ENST00000515425.1 - 9 1176 c.1075G>C c.(1075-1077)Gag>Cag p.E359Q SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E244Q|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E352Q NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 359 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAACACTCAGTCTGCTTA 0.537000 6 39 0 0 0.001168 0 0 ZNF41 7592 broad.mit.edu 37 X 47306910 47306910 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:47306910C>G ENST00000377065.4 - 5 2898 c.2259G>C c.(2257-2259)caG>caC p.Q753H ZNF41_ENST00000313116.7_Missense_Mutation_p.Q753H|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q763H NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 795 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TAAAGGCCTTCTGACATTCTG 0.383000 13 70 0 0 0.001368 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599538 128599538 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:128599538G>A ENST00000371122.4 - 23 3118 c.2989C>T c.(2989-2991)Cag>Tag p.Q997* SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q985*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q985* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 997 SANT 2. 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 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 AATCTAAACTGGGGAGCATTT 0.343000 5 66 0 0 0.000602 0 0 TP53 7157 broad.mit.edu 37 17 7573991 7573991 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:7573991C>A ENST00000269305.4 - 10 1225 c.1036G>T c.(1036-1038)Gag>Tag p.E346* TP53_ENST00000445888.2_Nonsense_Mutation_p.E346*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 346 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> A (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.I332fs*5(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) TCCAAGGCCTCATTCAGCTCT 0.577000 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) 9 49 1.58986e-06 2.04024e-06 0.008291 1 0 ATP13A5 344905 broad.mit.edu 37 3 193068888 193068888 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:193068888A>T ENST00000342358.4 - 7 826 c.709T>A c.(709-711)Tcc>Acc p.S237T NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 237 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGACAATGGAGATAACAGTC 0.388000 5 22 0 0 0.000602 0 0 IFI6 2537 broad.mit.edu 37 1 27992960 27992960 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:27992960C>G ENST00000361157.6 - 5 452 c.325G>C c.(325-327)Ggt>Cgt p.G109R IFI6_ENST00000362020.4_Missense_Mutation_p.G113R|IFI6_ENST00000339145.4_Missense_Mutation_p.G117R NM_002038.3|NM_022872.2|NM_022873.2 NP_002029.3|NP_075010.1|NP_075011.1 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 109 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding lung(1)|ovary(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCAATATTACCTATGACGACG 0.537000 6 44 0 0 0.003080 0 0 OR4E2 26686 broad.mit.edu 37 14 22133768 22133768 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:22133768G>T ENST00000408935.1 + 1 472 c.472G>T c.(472-474)Ggg>Tgg p.G158W NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G158W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCACTCACTAGGGCAGACCTT 0.488000 15 114 2.32078e-09 3.19639e-09 0.003163 1 0 CLPB 81570 broad.mit.edu 37 11 72145270 72145270 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:72145270G>C ENST00000437826.2 - 1 156 c.7C>G c.(7-9)Cgc>Ggc p.R3G CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000445069.2_Intron Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 0 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCAGCCGCGAGGCATTTGG 0.692000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 69 0 0 0.006214 0 0 EPPK1 83481 broad.mit.edu 37 8 144945369 144945369 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:144945369C>G ENST00000525985.1 - 2 2124 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q P58107 EPIPL_HUMAN epiplakin 1 685 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGCGCGCTCAGCCGACAGC 0.612000 6 50 0 0 0.001168 0 0 FSD2 123722 broad.mit.edu 37 15 83456108 83456108 + Missense_Mutation SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:83456108T>G ENST00000334574.8 - 2 216 c.35A>C c.(34-36)gAc>gCc p.D12A FSD2_ENST00000541889.1_Missense_Mutation_p.D12A A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 12 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 AGTAGACCTGTCCAGCCCCAG 0.468000 6 64 0 0 0.001168 0 0 PTPRA 5786 broad.mit.edu 37 20 3005234 3005234 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:3005234G>A ENST00000216877.6 + 16 1954 c.1554G>A c.(1552-1554)ggG>ggA p.G518G PTPRA_ENST00000399903.2_Silent_p.G527G|PTPRA_ENST00000318266.5_Silent_p.G518G|PTPRA_ENST00000356147.3_Silent_p.G518G|PTPRA_ENST00000380393.3_Silent_p.G527G|PTPRA_ENST00000358719.4_Silent_p.G383G|PTPRA_ENST00000425918.2_Silent_p.G538G NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 527 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAATCCCAGGGACCAGCAACA 0.453000 7 121 0 0 0.001984 0 0 RHEBL1 121268 broad.mit.edu 37 12 49460259 49460259 + Splice_Site SNP C C T rs148047837 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:49460259C>T ENST00000301068.6 - 5 571 c.332_splice c.e5+1 p.R111_splice NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 111 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 GGCCACTTACCGGGTTTTCCC 0.483000 14 457 0 0 0.004007 0 0 PCNXL2 80003 broad.mit.edu 37 1 233161085 233161085 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:233161085C>A ENST00000258229.8 - 26 4646 c.4412G>T c.(4411-4413)gGc>gTc p.G1471V PCNXL2_ENST00000344698.2_Missense_Mutation_p.G123V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1471 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCAGCAGCAGCCTCTGTCCTC 0.587000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 81 0.000442599 0.000504295 0.006214 1 0 TECTA 7007 broad.mit.edu 37 11 121032845 121032845 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:121032845G>T ENST00000392793.1 + 16 5309 c.5038G>T c.(5038-5040)Gtg>Ttg p.V1680L TECTA_ENST00000264037.2_Missense_Mutation_p.V1680L O75443 TECTA_HUMAN tectorin alpha 1680 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTGTGACAATGTGCACATCCA 0.537000 10 93 2.17888e-05 2.65132e-05 0.006214 1 0 VSIG4 11326 broad.mit.edu 37 X 65253491 65253491 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:65253491C>T ENST00000455586.2 - 2 363 c.237G>A c.(235-237)caG>caA p.Q79Q VSIG4_ENST00000412866.2_Silent_p.Q79Q|VSIG4_ENST00000374737.4_Silent_p.Q79Q NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 79 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTACTTTGCCTGCTGGATAT 0.547000 13 101 0 0 0.001855 0 0 SCN3A 6328 broad.mit.edu 37 2 165947170 165947170 + Missense_Mutation SNP T T A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:165947170T>A ENST00000360093.3 - 28 5984 c.5493A>T c.(5491-5493)aaA>aaT p.K1831N AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1831N|SCN3A_ENST00000540861.1_Missense_Mutation_p.K314N|SCN3A_ENST00000409101.3_Missense_Mutation_p.K1782N NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1831 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAAGCTGGACTTTGTTGGGTT 0.453000 9 99 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179591958 179591958 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:179591958C>T ENST00000589042.1 - 69 20358 c.20134G>A c.(20134-20136)Gat>Aat p.D6712N TTN_ENST00000591111.1_Missense_Mutation_p.D6395N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5468N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6395 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTACTTATCACTGGCTGGA 0.443000 7 52 0 0 0.003080 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999139 83999139 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:83999139G>C ENST00000343939.2 + 7 1593 c.1210G>C c.(1210-1212)Gac>Cac p.D404H OSGIN1_ENST00000361711.3_Missense_Mutation_p.D321H|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D321H Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 404 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGCCGTGGACGACCCTGGCCT 0.652000 4 46 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34151830 34151830 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:34151830G>C ENST00000389232.4 + 100 14267 c.14197G>C c.(14197-14199)Gaa>Caa p.E4733Q RYR3_ENST00000415757.3_Missense_Mutation_p.E4728Q|RP11-3D4.2_ENST00000560268.1_RNA NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4733 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity 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) CATTGGTGATGAAATTGAAGA 0.423000 4 41 0 0 0.009096 0 0 OR52E8 390079 broad.mit.edu 37 11 5878756 5878756 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:5878756C>A ENST00000537935.1 - 1 208 c.177G>T c.(175-177)caG>caT p.Q59H TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGAGACTCTGCTCAGTCT 0.468000 21 117 1.64113e-05 2.02317e-05 0.010504 1 0 ADCY9 115 broad.mit.edu 37 16 4164189 4164189 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:4164189G>A ENST00000294016.3 - 2 1793 c.1255C>T c.(1255-1257)Ctg>Ttg p.L419L NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 419 Guanylate cyclase 1. 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 integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AGATCGTTCAGGAGACCCACC 0.532000 10 65 0 0 0.006214 0 0 IGLV1-40 28825 broad.mit.edu 37 22 22764329 22764329 + RNA SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr22:22764329C>T ENST00000390299.2 + 0 122 TCTGTGCTGACGCAGCCGCCC 0.577000 OREG0026360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 172 0 0 0.003080 0 0 PRDM9 56979 broad.mit.edu 37 5 23526991 23526991 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:23526991C>A ENST00000296682.3 + 11 1976 c.1794C>A c.(1792-1794)caC>caA p.H598Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 598 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding 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 TCCTCACTCACCAGAGGACAC 0.597000 HNSCC(3;0.000094) 11 104 3.52763e-06 4.45097e-06 0.004990 1 0 OTOGL 283310 broad.mit.edu 37 12 80750261 80750261 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:80750261G>T ENST00000458043.2 + 47 5851 c.5845G>T c.(5845-5847)Ggc>Tgc p.G1949C OTOGL_ENST00000547103.1_Missense_Mutation_p.G1937C|OTOGL_ENST00000546620.1_5'UTR NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATTGATTGTTGGCCACAGTCC 0.323000 4 58 0.00024832 0.000286406 0.009096 1 0 KCNU1 157855 broad.mit.edu 37 8 36766899 36766899 + Nonsense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:36766899C>G ENST00000399881.3 + 21 2214 c.2177C>G c.(2176-2178)tCa>tGa p.S726* NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 726 Segment S9. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GATGCCCACTCAGCCCCGATG 0.468000 33 236 0 0 0.004289 0 0 C11orf54 28970 broad.mit.edu 37 11 93488502 93488502 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:93488502C>T ENST00000528288.1 + 6 692 c.457C>T c.(457-459)Cag>Tag p.Q153* C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Q134*|C11orf54_ENST00000331239.4_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Q153* NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 153 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCATGATTTTCAGTGTGCATT 0.423000 4 42 0 0 0.009096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905639 54905639 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:54905639G>A ENST00000474759.1 + 18 1748 c.1700G>A c.(1699-1701)cGa>cAa p.R567Q CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R473Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R567Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 567 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGGGAAGACCGAGATGACGTG 0.493000 4 47 0 0 0.001168 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047774 42047774 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:42047774C>G ENST00000372584.1 - 3 3709 c.2695G>C c.(2695-2697)Gag>Cag p.E899Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 899 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCAGCTTCTCAGCTGGGAGC 0.622000 8 86 0 0 0.004482 0 0 TG 7038 broad.mit.edu 37 8 133883593 133883593 + Splice_Site SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:133883593G>T ENST00000220616.4 + 4 315 c.274_splice c.e4-1 p.C92_splice TG_ENST00000377869.1_Splice_Site_p.C92_splice NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 92 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTACCCACAGGTCTGTCATTT 0.507000 13 95 1.5842e-08 2.15039e-08 0.001855 1 0 ANK2 287 broad.mit.edu 37 4 114274912 114274912 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:114274912A>T ENST00000357077.4 + 38 5191 c.5138A>T c.(5137-5139)aAa>aTa p.K1713I ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K1680I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1680 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding 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) GAAAAGCAGAAACAAAAAGAG 0.403000 8 114 0 0 0.004482 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606644 13606644 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:13606644G>C ENST00000040738.5 - 10 2015 c.1880C>G c.(1879-1881)cCa>cGa p.P627R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 627 Lys-rich. DNA binding AGGTTTACTTGGTTCACTTTT 0.353000 7 51 0 0 0.001984 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685379 125685379 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:125685379C>A ENST00000371126.1 - 1 1455 c.1213G>T c.(1213-1215)Gcc>Tcc p.A405S NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 405 p.A405S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTGCCACAGGCAAGCCTGAGC 0.557000 15 110 1.5739e-10 2.18371e-10 0.004007 1 0 RUSC1 23623 broad.mit.edu 37 1 155292113 155292113 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:155292113C>A ENST00000368352.5 + 2 700 c.549C>A c.(547-549)aaC>aaA p.N183K RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.N183K|RUSC1-AS1_ENST00000443642.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 183 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CGAACTGCAACGCCCTGACCA 0.627000 6 104 0.00307968 0.00342592 0.003080 1 0 LDOC1 23641 broad.mit.edu 37 X 140270995 140270995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:140270995G>C ENST00000370526.2 - 1 315 c.212C>G c.(211-213)aCg>aGg p.T71R LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 71 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GTAAGACGCCGTCTGCACGAT 0.622000 9 91 0 0 0.004482 0 0 KCNA4 3739 broad.mit.edu 37 11 30033664 30033664 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:30033664C>A ENST00000328224.6 - 2 1795 c.562G>T c.(562-564)Gag>Tag p.E188* NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 188 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.E188K(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATTTGGGTCTCAAAGCGTAGG 0.498000 15 39 1.3612e-06 1.75881e-06 0.003163 1 0 ZNF521 25925 broad.mit.edu 37 18 22804498 22804498 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr18:22804498C>T ENST00000361524.3 - 4 3532 c.3384G>A c.(3382-3384)gaG>gaA p.E1128E ZNF521_ENST00000538137.2_Silent_p.E1128E|ZNF521_ENST00000584787.1_Silent_p.E908E NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1128 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCCTTTCCCCTCAATGGCAC 0.542000 T PAX5 ALL 9 51 0 0 0.004482 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 44 0 0 0.009096 0 0 PRAM1 84106 broad.mit.edu 37 19 8563881 8563881 + Missense_Mutation SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:8563881T>C ENST00000423345.4 - 2 1331 c.811A>G c.(811-813)Aaa>Gaa p.K271E PRAM1_ENST00000255612.3_Missense_Mutation_p.K271E Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 319 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GAGGCCTTTTTGGGAAAGGCG 0.632000 14 40 0 0 0.002450 0 0 TM2D1 83941 broad.mit.edu 37 1 62190779 62190779 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:62190779C>G ENST00000371177.2 - 1 26 c.14G>C c.(13-15)tGg>tCg p.W5S TM2D1_ENST00000294613.5_Missense_Mutation_p.W5S|TM2D1_ENST00000371180.2_Missense_Mutation_p.W67S|TM2D1_ENST00000606498.1_Missense_Mutation_p.W5S Q9BX74 TM2D1_HUMAN TM2 domain containing 1 5 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 ACCAGACGGCCAGGCGGCCGC 0.652000 7 81 0 0 0.004482 0 0 TNS4 84951 broad.mit.edu 37 17 38643291 38643291 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:38643291C>A ENST00000254051.6 - 4 1443 c.1285G>T c.(1285-1287)Gag>Tag p.E429* NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 429 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GACGTACCCTCTGGGCATGTG 0.512000 23 347 6.21321e-17 9.09015e-17 0.002780 1 0 GABRE 2564 broad.mit.edu 37 X 151124235 151124235 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:151124235G>C ENST00000370325.1 - 7 935 c.882C>G c.(880-882)ctC>ctG p.L294L GABRE_ENST00000370328.3_Silent_p.L294L|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 294 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAACCCAGGAGAGCATCGTGG 0.498000 7 105 0 0 0.001984 0 0 ZNF526 116115 broad.mit.edu 37 19 42729969 42729969 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:42729969C>T ENST00000301215.3 + 3 1639 c.1414C>T c.(1414-1416)Cac>Tac p.H472Y NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) TGAACGGCGTCACCGCTGTGG 0.652000 12 107 0 0 0.002450 0 0 LRP2 4036 broad.mit.edu 37 2 170042448 170042448 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:170042448C>G ENST00000263816.3 - 50 9695 c.9410G>C c.(9409-9411)tGt>tCt p.C3137S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3137 EGF-like 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCAGGACGACAGGAACAATA 0.438000 7 66 0 0 0.001984 0 0 NID1 4811 broad.mit.edu 37 1 236205225 236205225 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:236205225C>G ENST00000264187.6 - 4 1202 c.1120G>C c.(1120-1122)Gag>Cag p.E374Q NID1_ENST00000366595.3_Missense_Mutation_p.E374Q NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 374 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTGTTTCCTCAACTTCATCC 0.512000 11 67 0 0 0.010729 0 0 SOX8 30812 broad.mit.edu 37 16 1034985 1034985 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:1034985C>A ENST00000293894.3 + 3 1055 c.940C>A c.(940-942)Ccc>Acc p.P314T NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 314 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) CGGGGCGTCCCCCGTGTGGGC 0.756000 5 11 1.23904e-05 1.5325e-05 0.000602 1 0 OR5L1 219437 broad.mit.edu 37 11 55579362 55579362 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:55579362G>T ENST00000333973.2 + 1 509 c.420G>T c.(418-420)gtG>gtT p.V140V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTTGGAAGGTGCGTGTGGAGC 0.502000 14 106 0.000151284 0.000177759 0.001855 1 0 ELF2 1998 broad.mit.edu 37 4 139983041 139983041 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:139983041C>T ENST00000394235.2 - 8 1250 c.748G>A c.(748-750)Gaa>Aaa p.E250K ELF2_ENST00000379550.1_Missense_Mutation_p.E262K|ELF2_ENST00000510408.1_Missense_Mutation_p.E190K|ELF2_ENST00000265495.4_Missense_Mutation_p.E250K|ELF2_ENST00000379549.2_Missense_Mutation_p.E173K|ELF2_ENST00000358635.3_Missense_Mutation_p.E202K NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 262 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CCCATGGTTTCATAGTTCATG 0.358000 6 46 0 0 0.001984 0 0 CARM1 10498 broad.mit.edu 37 19 11032406 11032406 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:11032406G>A ENST00000327064.4 + 16 1990 c.1800G>A c.(1798-1800)ccG>ccA p.P600P CARM1_ENST00000344150.4_Silent_p.P577P NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 600 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGTCCATCCCGACCAACACCA 0.672000 8 84 0 0 0.006214 0 0 TRRAP 8295 broad.mit.edu 37 7 98528293 98528293 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:98528293G>C ENST00000359863.4 + 25 3640 c.3431G>C c.(3430-3432)cGc>cCc p.R1144P TRRAP_ENST00000446306.3_Missense_Mutation_p.R1143P|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1144P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1144 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCGTGGAGCGCCTGTGTGCA 0.493000 16 186 0 0 0.004007 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760837 15760837 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:15760837G>A ENST00000221307.7 + 7 810 c.762G>A c.(760-762)caG>caA p.Q254Q CYP4F3_ENST00000591058.1_Silent_p.Q254Q|CYP4F3_ENST00000585846.1_Silent_p.Q254Q|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.Q254Q NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 254 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTGATGGGCAGCGTTTCCGCA 0.577000 37 103 0 0 0.005524 0 0 KCTD19 146212 broad.mit.edu 37 16 67325290 67325290 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:67325290G>T ENST00000304372.5 - 14 2542 c.2487C>A c.(2485-2487)gaC>gaA p.D829E NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 829 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCATGATGATGTCAGCCAGGA 0.517000 4 47 0.000602214 0.000679978 0.000602 1 0 ADCY1 107 broad.mit.edu 37 7 45614412 45614412 + Silent SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:45614412G>T ENST00000297323.7 + 1 292 c.270G>T c.(268-270)ctG>ctT p.L90L ADCY1_ENST00000432715.1_Intron NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 90 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) cgcccggccTGGCCAAGGGCT 0.751000 4 20 0.00024832 0.000286406 0.009096 1 0 BAHCC1 57597 broad.mit.edu 37 17 79410070 79410070 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:79410070G>C ENST00000307745.7 + 9 1695 c.1695G>C c.(1693-1695)aaG>aaC p.K565N CTGAGGCCAAGCGCAAGTCCC 0.716000 4 42 0 0 0.009096 0 0 MUC4 4585 broad.mit.edu 37 3 195516684 195516684 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:195516684C>T ENST00000463781.3 - 2 2226 c.1767G>A c.(1765-1767)atG>atA p.M589I MUC4_ENST00000475231.1_Missense_Mutation_p.M589I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 594 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCGTTTTTATCATCTGAGTCA 0.478000 24 338 0 0 0.004656 0 0 HSPA12B 116835 broad.mit.edu 37 20 3725682 3725682 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:3725682G>C ENST00000254963.2 + 5 545 c.400G>C c.(400-402)Gcg>Ccg p.A134P HSPA12B_ENST00000542646.1_5'UTR NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 134 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 CCCCGAAGAGGCGCGGGACTG 0.622000 21 203 0 0 0.012319 0 0 GPT 2875 broad.mit.edu 37 8 145730156 145730156 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:145730156C>G ENST00000394955.2 + 3 478 c.255C>G c.(253-255)gtC>gtG p.V85V GPT_ENST00000528431.1_Silent_p.V85V NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 85 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTTCCCAGGTCTTGGCCCTCT 0.647000 29 296 0 0 0.009535 0 0 TP53I3 9540 broad.mit.edu 37 2 24305854 24305854 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:24305854C>T ENST00000238721.4 - 2 1161 c.307G>A c.(307-309)Gaa>Aaa p.E103K TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 103 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGCCCTTCGGGGACAGTG 0.652000 4 41 0 0 0.009096 0 0 TTYH3 80727 broad.mit.edu 37 7 2696097 2696097 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:2696097C>T ENST00000258796.7 + 11 1384 c.1179C>T c.(1177-1179)ctC>ctT p.L393L TTYH3_ENST00000403167.1_Silent_p.L222L|TTYH3_ENST00000407643.1_Silent_p.L361L NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 393 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) ACCTGGCCCTCTTCTCCTTCG 0.627000 10 84 0 0 0.006214 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47582495 47582495 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:47582495G>C ENST00000371917.4 + 8 994 c.994G>C c.(994-996)Gat>Cat p.D332H NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 332 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCCAGGAGTTGATGAAAACTC 0.483000 5 29 0 0 0.000602 0 0 SYNJ2 8871 broad.mit.edu 37 6 158492658 158492658 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:158492658G>C ENST00000355585.4 + 15 2040 c.1965G>C c.(1963-1965)aaG>aaC p.K655N SYNJ2_ENST00000367122.2_Missense_Mutation_p.K655N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K655N NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 655 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ACACAGTGAAGACGGGCATGG 0.612000 6 75 0 0 0.001984 0 0 UAP1 6675 broad.mit.edu 37 1 162557435 162557435 + Silent SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:162557435A>T ENST00000271469.3 + 6 1307 c.1005A>T c.(1003-1005)gtA>gtT p.V335V UAP1_ENST00000367925.1_Silent_p.V335V|UAP1_ENST00000367926.4_Silent_p.V335V|UAP1_ENST00000367924.1_Silent_p.V335V Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 335 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCTTCACTGTACCATTTCTGA 0.418000 15 148 0 0 0.004007 0 0 RNF169 254225 broad.mit.edu 37 11 74547638 74547638 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:74547638C>T ENST00000299563.4 + 6 2003 c.1990C>T c.(1990-1992)Cag>Tag p.Q664* NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 664 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 GCAGAAGCTTCAGCAAGAGGA 0.537000 6 75 0 0 0.001168 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063206 41063206 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:41063206G>A ENST00000352632.3 + 26 5653 c.5567G>A c.(5566-5568)cGg>cAg p.R1856Q SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R532Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R599Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1856 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAGCGGAGGCGGCTGCCCCGC 0.647000 6 59 0 0 0.001168 0 0 COL13A1 1305 broad.mit.edu 37 10 71707089 71707089 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:71707089G>A ENST00000356340.3 + 36 2552 c.2016G>A c.(2014-2016)aaG>aaA p.K672K COL13A1_ENST00000398974.3_Silent_p.K660K|COL13A1_ENST00000354547.3_Silent_p.K650K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000398978.3_Silent_p.K672K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000398964.3_Silent_p.K643K Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 672 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CCGGGGACAAGGGAAACCGGG 0.527000 6 48 0 0 0.001984 0 0 DMD 1756 broad.mit.edu 37 X 32841411 32841411 + Splice_Site SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:32841411C>A ENST00000357033.4 - 5 564 c.e5+1 DMD_ENST00000288447.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGATTCTTACCTGCCAGTGG 0.328000 5 113 3.59834e-05 4.33646e-05 0.001168 1 0 THAP9 79725 broad.mit.edu 37 4 83838125 83838125 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:83838125G>A ENST00000302236.5 + 5 811 c.760G>A c.(760-762)Ggt>Agt p.G254S LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 254 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ACCCAGTCCAGGTTTCAACAG 0.348000 7 74 0 0 0.001984 0 0 SELPLG 6404 broad.mit.edu 37 12 109017937 109017937 + Silent SNP T T C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:109017937T>C ENST00000388962.3 - 2 306 c.147A>G c.(145-147)ctA>ctG p.L49L SELPLG_ENST00000550948.1_Silent_p.L49L|SELPLG_ENST00000228463.6_Silent_p.L65L NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 49 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 AATCATAATCTAGGTACTCAT 0.572000 3 54 0 0 0.009096 0 0 SGPL1 8879 broad.mit.edu 37 10 72633268 72633268 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:72633268C>T ENST00000373202.3 + 12 1420 c.1220C>T c.(1219-1221)gCc>gTc p.A407V NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 407 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TGTTGGGCTGCCTTGATGCAC 0.522000 6 114 0 0 0.001168 0 0 FAT4 79633 broad.mit.edu 37 4 126240995 126240995 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:126240995G>C ENST00000394329.3 + 1 3442 c.3429G>C c.(3427-3429)caG>caC p.Q1143H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1143 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATGGTGCAGCCAGATTTTG 0.453000 6 113 0 0 0.001168 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124235710 124235710 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:124235710C>T ENST00000330342.3 + 16 2237 c.1989C>T c.(1987-1989)ctC>ctT p.L663L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 663 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TCCCTGTCCTCTTCTTGGGAA 0.502000 19 126 0 0 0.006122 0 0 TBX5 6910 broad.mit.edu 37 12 114793577 114793577 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:114793577C>G ENST00000310346.4 - 9 1983 c.1317G>C c.(1315-1317)ctG>ctC p.L439L TBX5_ENST00000349716.5_Silent_p.L389L|TBX5_ENST00000405440.2_Silent_p.L439L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 439 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCATGCCAGCCAGCCGAGGGA 0.662000 4 28 0 0 0.009096 0 0 OR7G2 390882 broad.mit.edu 37 19 9213383 9213383 + Nonsense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:9213383A>T ENST00000305456.2 - 1 599 c.600T>A c.(598-600)tgT>tgA p.C200* NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GAGCCAGTTCACAGAAGAAGA 0.473000 6 48 0 0 0.001168 0 0 MBTD1 54799 broad.mit.edu 37 17 49280153 49280153 + Silent SNP A A G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:49280153A>G ENST00000586178.1 - 10 1315 c.972T>C c.(970-972)gaT>gaC p.D324D MBTD1_ENST00000376381.2_Silent_p.D324D|MBTD1_ENST00000415868.1_Silent_p.D324D NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 324 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CATCTGTTCTATCTTCGCTTT 0.423000 9 117 0 0 0.006214 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 4 71 0 0 0.009096 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916873 178916873 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:178916873G>C ENST00000263967.3 + 2 417 c.260G>C c.(259-261)aGa>aCa p.R87T NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 87 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GATGAAACAAGACGACTTTGT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 63 0 0 0.009096 0 0 MTMR8 55613 broad.mit.edu 37 X 63445529 63445529 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:63445529A>T ENST00000453546.1 - 10 1216 c.1127T>A c.(1126-1128)aTg>aAg p.M376K ASB12_ENST00000362002.2_Start_Codon_SNP_p.M1K Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AACTATTCTCATTATGAGCAC 0.493000 3 8 0 0 0.004672 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509705 106509705 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:106509705C>G ENST00000359195.3 + 2 2009 c.1699C>G c.(1699-1701)Ctc>Gtc p.L567V PIK3CG_ENST00000440650.2_Missense_Mutation_p.L567V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L567V NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 567 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACTTAACCCTCTCACAGCAGA 0.502000 5 55 0 0 0.000602 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982333 9982333 + Nonsense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:9982333G>T ENST00000506583.1 - 7 694 c.477C>A c.(475-477)taC>taA p.Y159* SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.Y159*|SLC2A9_ENST00000264784.3_Nonsense_Mutation_p.Y188* Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 188 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 TCTCACTAAGGTACATGGGGA 0.567000 8 31 4.68919e-08 6.2745e-08 0.008291 1 0 MYH1 4619 broad.mit.edu 37 17 10419566 10419566 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:10419566G>A ENST00000226207.5 - 4 392 c.298C>T c.(298-300)Cct>Tct p.P100S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 100 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCACAGCAGGCTCGTGTAGA 0.463000 17 110 0 0 0.004990 0 0 C5orf15 56951 broad.mit.edu 37 5 133295282 133295282 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:133295282G>C ENST00000231512.3 - 2 771 c.569C>G c.(568-570)tCa>tGa p.S190* C5orf15_ENST00000507191.1_5'UTR NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 190 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TTCTATATTTGAGGATGGCAT 0.388000 7 50 0 0 0.001984 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603915 140603915 + Missense_Mutation SNP A A T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140603915A>T ENST00000239449.4 + 1 838 c.838A>T c.(838-840)Aca>Tca p.T280S PCDHB14_ENST00000515856.2_Missense_Mutation_p.T127S NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 280 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATATCTTACACATTTTTCCA 0.408000 5 37 0 0 0.000602 0 0 EPHA3 2042 broad.mit.edu 37 3 89259011 89259011 + Splice_Site SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:89259011G>A ENST00000336596.2 + 3 380 c.153_splice c.e3-1 p.W52_splice EPHA3_ENST00000494014.1_Splice_Site_p.W52_splice|EPHA3_ENST00000452448.2_Splice_Site_p.W52_splice NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 52 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATTCTTCAGTGGGAAGAGATC 0.398000 TSP Lung(6;0.00050) 6 18 0 0 0.001168 0 0 MGA 23269 broad.mit.edu 37 15 42041491 42041491 + Nonsense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr15:42041491C>T ENST00000219905.7 + 17 5867 c.5686C>T c.(5686-5688)Cag>Tag p.Q1896* MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1857*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q1896* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1857 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTTGTGTCTCAGGCTGGTAC 0.438000 5 51 0 0 0.000602 0 0 CTD-2587H24.4 0 broad.mit.edu 37 19 55670627 55670627 + Nonstop_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:55670627C>G ENST00000587871.1 - 4 412 c.413G>C c.(412-414)tGa>tCa p.*138S DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000527223.2_Missense_Mutation_p.D544H|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D524H|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D423H|DNAAF3_ENST00000524407.2_Missense_Mutation_p.D477H GCCAGGATGTCAAGGGGCGGA 0.647000 5 31 0 0 0.001168 0 0 POTEF 728378 broad.mit.edu 37 2 130877990 130877990 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:130877990G>A ENST00000357462.5 - 1 192 c.99C>T c.(97-99)ccC>ccT p.P33P POTEF_ENST00000409914.2_Silent_p.P33P|POTEF_ENST00000361163.4_Silent_p.P33P|POTEF_ENST00000360967.5_Silent_p.P33P A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 33 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCCTGCAGCAGGGGAAGCAAC 0.577000 26 246 0 0 0.006320 0 0 SEC24C 9632 broad.mit.edu 37 10 75525632 75525632 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:75525632C>T ENST00000339365.2 + 11 1603 c.1441C>T c.(1441-1443)Ctg>Ttg p.L481L SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L362L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L481L NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 481 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TGAGCTATCCCTGGGCTCTTA 0.517000 28 141 0 0 0.007291 0 0 GPR116 221395 broad.mit.edu 37 6 46826925 46826925 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:46826925G>C ENST00000283296.7 - 17 3003 c.2715C>G c.(2713-2715)ctC>ctG p.L905L GPR116_ENST00000265417.7_Silent_p.L905L|GPR116_ENST00000456426.2_Silent_p.L763L|GPR116_ENST00000545669.1_Silent_p.L334L|GPR116_ENST00000362015.4_Silent_p.L905L NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 905 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGATGGCTTGGAGAGTTGGGA 0.453000 8 64 0 0 0.003080 0 0 CERS4 79603 broad.mit.edu 37 19 8326635 8326635 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:8326635C>G ENST00000558331.1 + 11 1218 c.759C>G c.(757-759)ttC>ttG p.F253L CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.F304L|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000251363.5_Missense_Mutation_p.F304L Q9HA82 CERS4_HUMAN ceramide synthase 4 304 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCTACTACTTCTTCAACGGGC 0.552000 8 65 0 0 0.003080 0 0 CENPE 1062 broad.mit.edu 37 4 104084360 104084360 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:104084360C>T ENST00000265148.3 - 18 1865 c.1776G>A c.(1774-1776)aaG>aaA p.K592K CENPE_ENST00000380026.3_Silent_p.K567K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 592 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CCTGTAGCTTCTTAATCTGGT 0.328000 6 20 0 0 0.001168 0 0 CPNE5 57699 broad.mit.edu 37 6 36710137 36710137 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:36710137G>A ENST00000244751.2 - 21 2314 c.1690C>T c.(1690-1692)Cgc>Tgc p.R564C CPNE5_ENST00000393189.2_Missense_Mutation_p.R272C|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 564 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GGACGCGGGCGAATGCCCTGT 0.687000 6 102 0 0 0.001168 0 0 MUC4 4585 broad.mit.edu 37 3 195518254 195518254 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:195518254G>C ENST00000463781.3 - 2 656 c.197C>G c.(196-198)tCt>tGt p.S66C MUC4_ENST00000475231.1_Missense_Mutation_p.S66C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 66 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCCTGATTAGAGGTCCTTGA 0.483000 6 153 0 0 0.001168 0 0 H2AFY2 55506 broad.mit.edu 37 10 71851671 71851671 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:71851671G>A ENST00000373255.4 + 4 702 c.438G>A c.(436-438)ggG>ggA p.G146G NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 146 Lys-rich. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 AGAAGGGGGGGAAGAAATCCA 0.587000 4 44 0 0 0.000602 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436574 6436574 + Missense_Mutation SNP C C T rs71584817 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:6436574C>T ENST00000449001.2 + 14 2223 c.1729C>T c.(1729-1731)Cgc>Tgc p.R577C PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R139C|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R609C|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R609C NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 609 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GAGCCGTCTACGCCAAAGAGC 0.647000 6 156 0 0 0.001984 0 0 MARCO 8685 broad.mit.edu 37 2 119727727 119727727 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:119727727G>T ENST00000327097.4 + 3 372 c.237G>T c.(235-237)atG>atT p.M79I MARCO_ENST00000541757.1_Start_Codon_SNP_p.M1I NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 79 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCCTGGAGATGTATTTCCTCA 0.577000 13 78 6.31663e-08 8.39241e-08 0.003163 1 0 FERMT2 10979 broad.mit.edu 37 14 53325133 53325133 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:53325133C>T ENST00000395631.2 - 15 2221 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K FERMT2_ENST00000343279.4_Missense_Mutation_p.E676K|FERMT2_ENST00000553373.1_Missense_Mutation_p.E676K|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Missense_Mutation_p.E669K Q96AC1 FERM2_HUMAN fermitin family member 2 669 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) AACATCTCTTCATCTAAACTC 0.363000 9 60 0 0 0.010729 0 0 BAI3 577 broad.mit.edu 37 6 70070957 70070957 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:70070957G>T ENST00000370598.1 + 29 4613 c.3792G>T c.(3790-3792)gaG>gaT p.E1264D BAI3_ENST00000238918.8_Missense_Mutation_p.E470D|BAI3_ENST00000546190.1_Missense_Mutation_p.E228D NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1264 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTATGAATGAGCTTAGCAATC 0.423000 11 33 4.68919e-08 6.2745e-08 0.008291 1 0 MRPS22 56945 broad.mit.edu 37 3 139065737 139065737 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:139065737G>C ENST00000495075.1 + 4 622 c.190G>C c.(190-192)Gag>Cag p.E64Q MRPS22_ENST00000478464.1_Missense_Mutation_p.E23Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E63Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E64Q P82650 RT22_HUMAN mitochondrial ribosomal protein S22 64 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 TGGTAGCCCAGAGACCAAGAA 0.363000 4 44 0 0 0.009096 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683204 140683204 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140683204C>T ENST00000239451.4 - 1 408 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 77 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACCGAGTTTTCGGCGACGTAG 0.577000 15 84 0 0 0.002450 0 0 IFT122 55764 broad.mit.edu 37 3 129211017 129211017 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:129211017G>C ENST00000296266.3 + 18 2371 c.2179G>C c.(2179-2181)Gag>Cag p.E727Q IFT122_ENST00000507564.1_Missense_Mutation_p.E668Q|IFT122_ENST00000440957.2_Missense_Mutation_p.E467Q|IFT122_ENST00000348417.2_Missense_Mutation_p.E676Q|IFT122_ENST00000347300.2_Missense_Mutation_p.E617Q|IFT122_ENST00000349441.2_Missense_Mutation_p.E565Q|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.E526Q NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 676 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.E727Q(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCGATATTTAGAGCTCATCAG 0.438000 9 135 0 0 0.006214 0 0 OR4A5 81318 broad.mit.edu 37 11 51411644 51411644 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:51411644C>A ENST00000319760.6 - 1 804 c.752G>T c.(751-753)tGt>tTt p.C251F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TATGAAAATACAGGGTACAAA 0.388000 6 30 0.00116845 0.00130755 0.001168 1 0 GAN 8139 broad.mit.edu 37 16 81399073 81399073 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr16:81399073G>A ENST00000248272.3 + 9 1654 c.1492G>A c.(1492-1494)Gag>Aag p.E498K GAN_ENST00000567335.1_3'UTR NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 498 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) CTACCATGATGAGTTTAAAAG 0.428000 9 86 0 0 0.004482 0 0 SOD1 6647 broad.mit.edu 37 21 33036154 33036154 + Missense_Mutation SNP G G T rs121912433 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr21:33036154G>T ENST00000270142.6 + 2 272 c.124G>T c.(124-126)Ggc>Tgc p.G42C SOD1_ENST00000470944.1_3'UTR|SOD1_ENST00000389995.4_Missense_Mutation_p.G23C NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble 42 G -> D (in ALS1).|G -> S (in ALS1). activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 ACTGACTGAAGGCCTGCATGG 0.433000 15 80 2.48551e-13 3.58065e-13 0.004990 1 0 MYOM3 127294 broad.mit.edu 37 1 24406539 24406539 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:24406539G>A ENST00000330966.7 - 20 2718 c.2556C>T c.(2554-2556)gtC>gtT p.V852V MYOM3_ENST00000374434.3_Silent_p.V851V|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.V851V|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 851 Fibronectin type-III 5. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCTGGGGTGACCGGCTTCC 0.592000 6 66 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89521758 89521758 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:89521758G>C ENST00000336596.2 + 16 3060 c.2835G>C c.(2833-2835)aaG>aaC p.K945N EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 945 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATAGCCAAGATTTCCACAG 0.408000 TSP Lung(6;0.00050) 6 66 0 0 0.001168 0 0 PRUNE2 158471 broad.mit.edu 37 9 79520851 79520851 + Translation_Start_Site SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:79520851G>C ENST00000428286.1 - 0 152 PRUNE2_ENST00000376718.3_Missense_Mutation_p.S10C|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S10C Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TACCAGTTTAGATTTGGCGCG 0.532000 7 65 0 0 0.001984 0 0 MANEA 79694 broad.mit.edu 37 6 96034645 96034645 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:96034645G>T ENST00000358812.4 + 2 464 c.330G>T c.(328-330)tgG>tgT p.W110C MANEA_ENST00000369293.1_Missense_Mutation_p.W110C NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 110 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ATTACAGTTGGTATGGAAATC 0.363000 7 39 8.12818e-05 9.641e-05 0.001984 1 0 MYOF 26509 broad.mit.edu 37 10 95111578 95111578 + Silent SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:95111578G>C ENST00000371501.4 - 33 3629 c.3507C>G c.(3505-3507)ctC>ctG p.L1169L MYOF_ENST00000371502.4_Silent_p.L1169L|MYOF_ENST00000358334.5_Silent_p.L1156L|MYOF_ENST00000359263.4_Silent_p.L1169L Q9NZM1 MYOF_HUMAN myoferlin 1169 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGCTCCGATGGAGGAAACAGA 0.433000 5 38 0 0 0.001168 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710633 140710633 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr5:140710633G>A ENST00000517417.1 + 1 382 c.382G>A c.(382-384)Gac>Aac p.D128N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D128N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATATTAATGACAACACTCC 0.403000 24 130 0 0 0.003954 0 0 WNK1 65125 broad.mit.edu 37 12 992609 992609 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:992609C>G ENST00000537687.1 + 16 4961 c.4318C>G c.(4318-4320)Caa>Gaa p.Q1440E WNK1_ENST00000315939.6_Missense_Mutation_p.Q1180E|WNK1_ENST00000535572.1_Missense_Mutation_p.Q933E|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1678E|WNK1_ENST00000340908.4_Missense_Mutation_p.Q773E NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1180 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTTTGTGGATCAAGTGCGAGA 0.388000 3 39 0 0 0.004672 0 0 OR14C36 127066 broad.mit.edu 37 1 248512634 248512634 + Silent SNP T T G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:248512634T>G ENST00000317861.1 + 1 558 c.558T>G c.(556-558)tcT>tcG p.S186S NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TGAAGCTCTCTTGCTCTGACA 0.493000 10 78 0 0 0.008291 0 0 ZNF248 57209 broad.mit.edu 37 10 38121209 38121209 + Silent SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:38121209C>G ENST00000395867.3 - 6 1624 c.1074G>C c.(1072-1074)ggG>ggC p.G358G ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TGAAATTACTCCCATTTTCAT 0.403000 29 89 0 0 0.005443 0 0 LZTS1 11178 broad.mit.edu 37 8 20110421 20110421 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:20110421C>A ENST00000381569.1 - 3 1378 c.1021G>T c.(1021-1023)Gag>Tag p.E341* LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E341*|LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E341* Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 341 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGCCGCTTCTCCTGCTGAAGC 0.647000 4 32 0.00024832 0.000286406 0.009096 1 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621545 99621545 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr7:99621545C>T ENST00000324306.6 + 2 650 c.416C>T c.(415-417)tCa>tTa p.S139L ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S103L|ZKSCAN1_ENST00000535170.1_Intron NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 139 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTTGATTTATCAGGACAACAG 0.507000 7 68 0 0 0.003080 0 0 OR7G1 125962 broad.mit.edu 37 19 9226385 9226385 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:9226385C>T ENST00000293614.1 - 1 54 c.55G>A c.(55-57)Gag>Aag p.E19K OR7G1_ENST00000541538.1_Missense_Mutation_p.E19K Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E19*(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TCTGGGTCCTCTGTCACTTTC 0.433000 8 90 0 0 0.006214 0 0 PLCL1 5334 broad.mit.edu 37 2 198950567 198950567 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:198950567C>G ENST00000428675.1 + 2 2724 c.2326C>G c.(2326-2328)Cct>Gct p.P776A PLCL1_ENST00000437704.2_Missense_Mutation_p.P678A NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 776 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CAGTGATAATCCTATTTTTGA 0.393000 6 61 0 0 0.001168 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609007 115609007 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:115609007C>G ENST00000361384.2 - 2 2774 c.1857G>C c.(1855-1857)gaG>gaC p.E619D DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619D NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 619 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) AAAGCTGACTCTCATGTAAAG 0.403000 Other identified genes with known or suspected DNA repair function 9 86 0 0 0.008291 0 0 RP1L1 94137 broad.mit.edu 37 8 10468390 10468390 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:10468390C>A ENST00000382483.3 - 4 3441 c.3218G>T c.(3217-3219)cGg>cTg p.R1073L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1073 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGAAGTGCCCGCAGGCTCAC 0.697000 5 21 0.000602214 0.000679978 0.000602 1 0 FGD5 152273 broad.mit.edu 37 3 14862303 14862303 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:14862303G>A ENST00000285046.5 + 1 1835 c.1725G>A c.(1723-1725)agG>agA p.R575R FGD5_ENST00000543601.1_Silent_p.R334R NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 575 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ATGACCACAGGATAAAGAGGA 0.557000 4 36 0 0 0.009096 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587954 68587954 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:68587954G>C ENST00000478136.1 + 4 797 c.307G>C c.(307-309)Gaa>Caa p.E103Q FAM19A1_ENST00000496687.1_Missense_Mutation_p.E103Q NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 103 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCCTTGCCTAGAAGGAGAAGA 0.438000 7 48 0 0 0.003080 0 0 EFCAB6 64800 broad.mit.edu 37 22 44178131 44178131 + Nonsense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr22:44178131G>C ENST00000262726.7 - 3 321 c.68C>G c.(67-69)tCa>tGa p.S23* EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATGGGGTCTTGAATGTGTAAA 0.373000 4 57 0 0 0.009096 0 0 DAPK3 1613 broad.mit.edu 37 19 3964802 3964802 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:3964802C>T ENST00000545797.2 - 3 493 c.250G>A c.(250-252)Gag>Aag p.E84K DAPK3_ENST00000301264.3_Missense_Mutation_p.E84K O43293 DAPK3_HUMAN death-associated protein kinase 3 84 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTTGTTCTCGAAGATGTCG 0.632000 14 86 0 0 0.001855 0 0 OR2J3 442186 broad.mit.edu 37 6 29079946 29079946 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr6:29079946G>T ENST00000377169.1 + 1 279 c.279G>T c.(277-279)aaG>aaT p.K93N NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K93N(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GCCCGGAAAAGACCATCTCTT 0.478000 12 159 2.80697e-09 3.85191e-09 0.010729 1 0 OR5M3 219482 broad.mit.edu 37 11 56237626 56237626 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:56237626C>A ENST00000312240.2 - 1 388 c.348G>T c.(346-348)atG>atT p.M116I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TATCAAAGGCCATCGCAGCAA 0.358000 5 71 0.000602214 0.000679978 0.000602 1 0 RFC5 5985 broad.mit.edu 37 12 118467620 118467620 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr12:118467620G>A ENST00000392542.2 + 11 1386 c.853G>A c.(853-855)Gca>Aca p.A285T RFC5_ENST00000229043.3_Missense_Mutation_p.A221T|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Missense_Mutation_p.A306T NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 306 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACCAAAATGGCAGACATTGA 0.358000 10 99 0 0 0.001855 0 0 PARP2 10038 broad.mit.edu 37 14 20815046 20815046 + Missense_Mutation SNP G G C TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr14:20815046G>C ENST00000527915.1 + 4 342 c.337G>C c.(337-339)Gat>Cat p.D113H PARP2_ENST00000250416.5_Missense_Mutation_p.D113H|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.D100H Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 113 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TGAAGGAAATGATGTCTATGA 0.368000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 5 40 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92086102 92086102 + Nonsense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:92086102C>A ENST00000298047.6 + 1 841 c.824C>A c.(823-825)tCg>tAg p.S275* FAT3_ENST00000525166.1_Nonsense_Mutation_p.S125*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S275*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S275* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 275 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding 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) GTTCCTTTCTCGTTGGAAAAA 0.448000 TCGA Ovarian(4;0.039) 13 102 0.00010058 0.000118552 0.001368 1 0 MYPN 84665 broad.mit.edu 37 10 69926137 69926137 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr10:69926137C>A ENST00000358913.5 + 10 2175 c.1687C>A c.(1687-1689)Ccc>Acc p.P563T MYPN_ENST00000540630.1_Missense_Mutation_p.P563T|MYPN_ENST00000354393.2_Missense_Mutation_p.P288T NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 563 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCCCTCCCCACCCCACTCAGA 0.572000 11 42 5.16669e-11 7.22184e-11 0.010729 1 0 OR10G4 390264 broad.mit.edu 37 11 123886957 123886957 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:123886957C>T ENST00000320891.4 + 1 676 c.676C>T c.(676-678)Cgg>Tgg p.R226W NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 226 R -> Q (in dbSNP:rs11219408). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTCCATCCTGCGGATCCGCAC 0.517000 5 97 0 0 0.001984 0 0 ATP11C 286410 broad.mit.edu 37 X 138827966 138827966 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chrX:138827966G>T ENST00000370557.1 - 25 3897 c.2870C>A c.(2869-2871)aCa>aAa p.T957K ATP11C_ENST00000359686.2_Missense_Mutation_p.T963K|ATP11C_ENST00000327569.3_Missense_Mutation_p.T963K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T963K Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 963 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AGCCAGAAATGTCCAATATAA 0.393000 8 62 1.06961e-07 1.41114e-07 0.003080 1 0 GPR148 344561 broad.mit.edu 37 2 131487352 131487352 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:131487352C>A ENST00000309926.4 + 1 710 c.628C>A c.(628-630)Cag>Aag p.Q210K NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 210 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CATGGGCACCCAGCCGGGATG 0.542000 14 90 3.27435e-08 4.41275e-08 0.002450 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137205 40137205 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:40137205G>T ENST00000278198.2 - 2 2601 c.638C>A c.(637-639)cCt>cAt p.P213H LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213H Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 213 regulation of axonogenesis integral to membrane protein binding 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) TGTGAGGTTAGGGATTTCCCG 0.458000 7 38 2.0095e-06 2.56997e-06 0.001984 1 0 NEK3 4752 broad.mit.edu 37 13 52707317 52707317 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr13:52707317C>T ENST00000452082.2 - 14 2724 c.1494G>A c.(1492-1494)ctG>ctA p.L498L NEK3_ENST00000378101.2_Silent_p.L494L|NEK3_ENST00000339406.3_Silent_p.L494L|NEK3_ENST00000400357.2_Silent_p.L477L P51956 NEK3_HUMAN NIMA-related kinase 3 494 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CTCGCTTCTTCAGCTCTGACA 0.498000 5 17 0 0 0.000602 0 0 MUC4 4585 broad.mit.edu 37 3 195516290 195516290 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:195516290C>G ENST00000463781.3 - 2 2620 c.2161G>C c.(2161-2163)Gat>Cat p.D721H MUC4_ENST00000475231.1_Missense_Mutation_p.D721H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 726 A -> T (in dbSNP:rs3749331). cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGGTGGCATCATGGCTGCTG 0.612000 7 142 0 0 0.003080 0 0 CHD6 84181 broad.mit.edu 37 20 40054752 40054752 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:40054752C>A ENST00000373233.3 - 28 4287 c.4110G>T c.(4108-4110)aaG>aaT p.K1370N NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1370 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGTCATCCTTCTTTTCGCTAA 0.423000 7 179 5.18039e-06 6.47119e-06 0.003080 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145770662 145770662 + Missense_Mutation SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:145770662C>A ENST00000276826.5 - 5 2693 c.2492G>T c.(2491-2493)cGg>cTg p.R831L ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R831L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R831L|ARHGAP39_ENST00000528810.1_5'UTR Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 831 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GTCCATGTGCCGGTAGATGTA 0.627000 12 46 3.07112e-06 3.90115e-06 0.010729 1 0 SSU72 29101 broad.mit.edu 37 1 1500188 1500188 + Silent SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:1500188C>T ENST00000359060.4 - 2 215 c.189G>A c.(187-189)caG>caA p.Q63Q SSU72_ENST00000291386.3_Silent_p.Q63Q Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 63 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CATTGTACATCTGGTCATATG 0.493000 10 105 0 0 0.006214 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 70 0.00909568 0.00982752 0.009096 1 0 IGSF9B 22997 broad.mit.edu 37 11 133791250 133791250 + Silent SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:133791250G>A ENST00000321016.8 - 18 2600 c.2370C>T c.(2368-2370)ctC>ctT p.L790L IGSF9B_ENST00000533871.2_Silent_p.L790L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 790 integral to membrane|plasma membrane 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) ACGGCGCTCGGAGCGTGCGGA 0.657000 4 34 0 0 0.009096 0 0 CARM1 10498 broad.mit.edu 37 19 11031219 11031219 + Missense_Mutation SNP C C T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:11031219C>T ENST00000327064.4 + 11 1494 c.1304C>T c.(1303-1305)tCa>tTa p.S435L CARM1_ENST00000344150.4_Missense_Mutation_p.S435L NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 435 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GACACGCTCTCAGGGACATGT 0.637000 4 44 0 0 0.009096 0 0 WDFY3 23001 broad.mit.edu 37 4 85731329 85731329 + Missense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr4:85731329G>A ENST00000322366.6 - 14 2463 c.2056C>T c.(2056-2058)Cac>Tac p.H686Y WDFY3_ENST00000295888.4_Missense_Mutation_p.H686Y|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 686 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AACACAGTGTGAAGAAGTTCA 0.448000 9 63 0 0 0.006214 0 0 EIF6 3692 broad.mit.edu 37 20 33867900 33867900 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:33867900C>G ENST00000374450.3 - 5 655 c.391G>C c.(391-393)Gat>Cat p.D131H EIF6_ENST00000374443.3_Missense_Mutation_p.D112H|EIF6_ENST00000374436.3_Missense_Mutation_p.D131H|EIF6_ENST00000462894.1_5'UTR NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 131 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTGAGCACATCTGCCAGAATT 0.507000 6 172 0 0 0.003080 0 0 NES 10763 broad.mit.edu 37 1 156640010 156640010 + Nonsense_Mutation SNP G G A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:156640010G>A ENST00000368223.3 - 4 4102 c.3970C>T c.(3970-3972)Caa>Taa p.Q1324* NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1324 Tail. DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCTCCCCTTGAGGGGGTGGC 0.662000 8 136 0 0 0.003080 0 0 CAPN13 92291 broad.mit.edu 37 2 30966341 30966341 + Silent SNP C C A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:30966341C>A ENST00000295055.8 - 13 1529 c.1353G>T c.(1351-1353)ctG>ctT p.L451L CAPN13_ENST00000534090.2_Silent_p.L451L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 451 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity 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) TCCCAGGGCTCAGATGGTAAG 0.463000 27 168 7.92952e-12 1.12936e-11 0.003954 1 0 THUMPD2 80745 broad.mit.edu 37 2 39963894 39963894 + Missense_Mutation SNP G G A rs145653260 byFrequency TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr2:39963894G>A ENST00000505747.1 - 10 1520 c.1493C>T c.(1492-1494)tCg>tTg p.S498L THUMPD2_ENST00000260619.6_Missense_Mutation_p.S468L NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 498 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) AGAAGAGTGCGACTTCTTATA 0.448000 4 36 0 0 0.009096 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137206 40137206 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr11:40137206G>T ENST00000278198.2 - 2 2600 c.637C>A c.(637-639)Cct>Act p.P213T LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 213 regulation of axonogenesis integral to membrane protein binding p.P213T(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) GTGAGGTTAGGGATTTCCCGA 0.458000 8 39 1.06961e-07 1.41114e-07 0.003080 1 0 CAMSAP2 23271 broad.mit.edu 37 1 200776585 200776585 + Missense_Mutation SNP G G T TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:200776585G>T ENST00000358823.2 + 3 751 c.481G>T c.(481-483)Gct>Tct p.A161S CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A161S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A161S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 161 cytoplasm|microtubule protein binding AATTGCGTGTGCTCAGCAGTA 0.383000 7 43 8.12818e-05 9.641e-05 0.001984 1 0 IRF2BP2 359948 broad.mit.edu 37 1 234743316 234743317 + Frame_Shift_Ins INS - - CT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:234743316_234743317insCT ENST00000366609.3 - 2 1360_1361 c.1330_1331insAG c.(1330-1332)caafs p.Q444fs RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.Q428fs|IRF2BP2_ENST00000491430.1_5'UTR NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) AACCTGGTTGGCATCTTTTGAG 0.604 11 162 --- --- --- --- OR2M2 391194 broad.mit.edu 37 1 248343457 248343457 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr1:248343457delC ENST00000359682.2 + 1 170 c.170delC c.(169-171)acfs p.T57fs NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGCTCCACACCCCCATGTAC 0.537 31 392 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134851761 134851761 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr3:134851761delC ENST00000398015.3 + 5 1537 c.1167delC c.(1165-1167)tgfs p.C389fs EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 389 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding 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 TGACGGAGTGCCGCGTCTCCA 0.617 8 43 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885535 88885536 + Frame_Shift_Ins INS - - A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr8:88885535_88885536insA ENST00000319675.3 - 1 760_761 c.664_665insT c.(664-666)gacfs p.D222fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 222 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACTGCTAGTCCCAAATGACTGC 0.530 8 131 --- --- --- --- ZNF585A 199704 broad.mit.edu 37 19 37643721 37643721 + Frame_Shift_Del DEL C C - rs146669317 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr19:37643721delC ENST00000356958.4 - 5 1338 c.1080delG c.(1078-1080)ggfs p.G360fs ZNF585A_ENST00000355533.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAAAGGCCTTCCCACACTCAG 0.408 26 73 --- --- --- --- FLRT3 23767 broad.mit.edu 37 20 14306373 14306375 + In_Frame_Del DEL AAG AAG - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 c5e5daaa-44dc-4055-91d9-36d4ab69a60f g.chr20:14306373_14306375delAAG ENST00000378053.3 - 2 2034_2036 c.1778_1780delCTT c.(1777-1782)ttt>t p.SF593del FLRT3_ENST00000341420.4_In_Frame_Del_p.SF593del|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 593 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.S593Y(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AACATCTGAAAAGAAGTTTCCCT 0.399 16 137 --- --- --- --- IRF2BP2 359948 broad.mit.edu 37 1 234743316 234743317 + Frame_Shift_Ins INS - - CT TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:234743316_234743317insCT ENST00000366609.3 - 2 1360_1361 c.1330_1331insAG c.(1330-1332)caafs p.Q444fs RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.Q428fs|IRF2BP2_ENST00000491430.1_5'UTR NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) AACCTGGTTGGCATCTTTTGAG 0.604 11 162 --- --- --- --- OR2M2 391194 broad.mit.edu 37 1 248343457 248343457 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr1:248343457delC ENST00000359682.2 + 1 170 c.170delC c.(169-171)acfs p.T57fs NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGCTCCACACCCCCATGTAC 0.537 31 392 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134851761 134851761 + Frame_Shift_Del DEL C C - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:134851761delC ENST00000398015.3 + 5 1537 c.1167delC c.(1165-1167)tgfs p.C389fs EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 389 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding 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 TGACGGAGTGCCGCGTCTCCA 0.617 8 43 --- --- --- --- ERICH6-AS1 101928085 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 7 3 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885535 88885536 + Frame_Shift_Ins INS - - A TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr8:88885535_88885536insA ENST00000319675.3 - 1 760_761 c.664_665insT c.(664-666)gacfs p.D222fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 222 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACTGCTAGTCCCAAATGACTGC 0.530 8 131 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 4 7 --- --- --- --- ZNF585A 199704 broad.mit.edu 37 19 37643721 37643721 + Frame_Shift_Del DEL C C - rs146669317 TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr19:37643721delC ENST00000356958.4 - 5 1338 c.1080delG c.(1078-1080)ggfs p.G360fs ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.G305fs Q6P3V2 Z585A_HUMAN zinc finger protein 585A 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAAAGGCCTTCCCACACTCAG 0.408 26 73 --- --- --- --- FLRT3 23767 broad.mit.edu 37 20 14306373 14306375 + In_Frame_Del DEL AAG AAG - TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:14306373_14306375delAAG ENST00000378053.3 - 2 2034_2036 c.1778_1780delCTT c.(1777-1782)ttt>t p.SF593del MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_In_Frame_Del_p.SF593del NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 593 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.S593Y(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AACATCTGAAAAGAAGTTTCCCT 0.399 16 137 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61ff2f50-8ae1-4332-a96e-e5dc24213556 bba5c090-2ff8-4fce-afd5-4674c768fe6b g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 7 73 --- --- --- ---