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 GZMK 3003 broad.mit.edu 37 5 54329647 54329647 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:54329647G>A ENST00000231009.2 + 5 758 c.688G>A c.(688-690)Gga>Aga p.G230R CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 230 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TATAGTCTCTGGAGGTCATGA 0.488000 18 33 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152432 66152432 + RNA SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:66152432C>A ENST00000489520.2 - 0 511 NR_026825.2 CCGTGGCTCCCAGTAGGCTGC 0.547000 7 18 0.000274275 0.000274928 1 1 0 C10orf120 399814 broad.mit.edu 37 10 124459229 124459229 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124459229C>T ENST00000329446.4 - 1 109 c.78G>A c.(76-78)aaG>aaA p.K26K NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 26 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GCTTTTCATTCTTCCTTTCTT 0.448000 22 43 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059844 9059844 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9059844G>T ENST00000397910.4 - 3 27805 c.27602C>A c.(27601-27603)cCa>cAa p.P9201Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9203 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 GCTCAAATTTGGGGGTGAACT 0.488000 46 67 2.67592e-24 2.72246e-24 1 1 0 SLC12A5 57468 broad.mit.edu 37 20 44670039 44670039 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:44670039G>A ENST00000454036.1 + 8 1071 c.995G>A c.(994-996)gGa>gAa p.G332E SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309E NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 332 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTTGGGAAGGAAATGAGACG 0.552000 19 50 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021485 132021485 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:132021485G>A ENST00000356920.5 + 15 2551 c.2457G>A c.(2455-2457)atG>atA p.M819I PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 819 Actin-like. ATP binding GCGAGAAGATGACCCAGATCA 0.617000 65 142 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565236 58565236 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58565236G>A ENST00000282326.1 + 6 1291 c.1044G>A c.(1042-1044)agG>agA p.R348R NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 348 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCCACCGAGGAAGAAAGCCC 0.667000 6 35 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701142 50701142 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:50701142G>A ENST00000361387.2 - 9 1952 c.1892C>T c.(1891-1893)tCc>tTc p.S631F ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S412F NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGCCCCACGGAGACCAGGGT 0.597000 21 35 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164375 150164375 + Missense_Mutation SNP G G A rs147231393 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150164375G>A ENST00000307271.3 + 2 1163 c.589G>A c.(589-591)Gga>Aga p.G197R NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 197 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAATACGAACGGAGGACCCTA 0.423000 32 105 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295638 20295638 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20295638G>A ENST00000568211.1 + 1 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K OR4N2_ENST00000315947.1_Missense_Mutation_p.E11K Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATAAGAGAATTCATCCT 0.388000 50 143 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18049228 18049228 + Nonsense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:18049228G>T ENST00000205890.5 + 30 6654 c.6316G>T c.(6316-6318)Gag>Tag p.E2106* NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2106 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGGTGCCCGGGAGAACATCTT 0.602000 19 23 4.26978e-12 4.31485e-12 1 1 0 POU6F1 5463 broad.mit.edu 37 12 51585513 51585513 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51585513G>A ENST00000389243.4 - 10 1365 c.426C>T c.(424-426)atC>atT p.I142I POU6F1_ENST00000333640.10_Silent_p.I142I|POU6F1_ENST00000550824.1_Silent_p.I142I Q14863 PO6F1_HUMAN POU class 6 homeobox 1 142 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CTTCTAAGTTGATCCCATCCT 0.552000 67 94 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077510 9077510 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9077510G>A ENST00000397910.4 - 3 10139 c.9936C>T c.(9934-9936)tcC>tcT p.S3312S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3313 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 GGGAGACAGAGGACATTGTGG 0.522000 22 54 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117504034 117504034 + Silent SNP C C T rs147606477 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:117504034C>T ENST00000393203.2 + 5 1530 c.1383C>T c.(1381-1383)agC>agT p.S461S NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 461 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TGGTGACCAGCGAGCTGCTTG 0.547000 27 61 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100403206 100403206 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100403206G>A ENST00000358173.3 - 15 3063 c.2595C>T c.(2593-2595)ccC>ccT p.P865P EPHB4_ENST00000360620.3_Silent_p.P865P NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 865 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGGGAAGCGGGGCCGGGCAT 0.647000 58 92 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657798 20657798 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:20657798G>A ENST00000428453.1 - 0 2160 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GTTTGCAGGGGAACCGGCTGG 0.512000 9 31 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925374 67925374 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67925374C>T ENST00000304363.4 - 11 2792 c.2439G>A c.(2437-2439)atG>atA p.M813I NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CATCCACCTCCATTCGAGACT 0.453000 47 86 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990161 89990161 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89990161G>A ENST00000405460.2 + 33 7684 c.7588G>A c.(7588-7590)Gat>Aat p.D2530N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2530 Calx-beta 17. 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) TCTTCCTGATGATTTCCCAGA 0.453000 23 42 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 142053639 142053639 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:142053639G>A ENST00000306799.3 - 1 977 c.324C>T c.(322-324)ttC>ttT p.F108F RNF150_ENST00000507500.1_Silent_p.F108F|RNF150_ENST00000515673.1_Silent_p.F108F|RNF150_ENST00000420921.2_Intron NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 108 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TCGGGGCGGCGAACTTGGTGT 0.672000 6 8 0 0 1 0 0 CDKL3 51265 broad.mit.edu 37 5 133657530 133657530 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:133657530G>A ENST00000521118.1 - 5 718 c.604C>T c.(604-606)Cct>Tct p.P202S CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523054.1_Missense_Mutation_p.P13S|CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.P202S|CDKL3_ENST00000521755.1_Missense_Mutation_p.P13S|CDKL3_ENST00000435211.1_Missense_Mutation_p.P202S|CDKL3_ENST00000265334.4_Missense_Mutation_p.P202S|CDKL3_ENST00000518409.1_5'UTR Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 202 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAACTACTAGGAAGATAGGGA 0.358000 19 19 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9013827 9013827 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:9013827C>T ENST00000299698.7 + 28 3616 c.3436C>T c.(3436-3438)Ctg>Ttg p.L1146L A2ML1_ENST00000539547.1_Silent_p.L655L NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 990 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CATTTTCTCCCTGGCTGGGGA 0.473000 44 95 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50070776 50070776 + Silent SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50070776T>A ENST00000046087.2 - 5 687 c.618A>T c.(616-618)tcA>tcT p.S206S ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.S205S NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 206 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AAATTTCACATGAAAGGTCAA 0.353000 32 35 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148620262 148620262 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:148620262C>T ENST00000506113.1 + 13 1710 c.1228C>T c.(1228-1230)Cca>Tca p.P410S ABLIM3_ENST00000508983.1_Intron|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P410S|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 410 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) CCGGAGCTCTCCATACCATAG 0.562000 33 68 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:138183346G>A ENST00000389567.4 + 9 1261 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 359 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CACCTGGAACGAAGTGTTTGA 0.582000 18 47 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13719087 13719087 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13719087G>A ENST00000265104.4 - 72 12507 c.12403C>T c.(12403-12405)Cat>Tat p.H4135Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4135 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AACTGCTTATGAGCCTCGGTG 0.468000 Kartagener syndrome 28 53 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42338659 42338659 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:42338659C>T ENST00000217026.4 + 10 1689 c.1562C>T c.(1561-1563)cCg>cTg p.P521L MYBL2_ENST00000396863.4_Missense_Mutation_p.P497L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 521 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACGCCAACCCCGTTCAAGAAC 0.597000 85 165 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21529786 21529786 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21529786C>T ENST00000313654.9 + 71 9650 c.9409C>T c.(9409-9411)Ccc>Tcc p.P3137S LAMA3_ENST00000269217.6_Missense_Mutation_p.P1528S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1472S|LAMA3_ENST00000399516.3_Missense_Mutation_p.P3081S NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3137 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGATTCAAAACCCTTGTATAC 0.473000 11 33 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60503872 60503872 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:60503872G>A ENST00000311506.5 + 3 451 c.415G>A c.(415-417)Gaa>Aaa p.E139K NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 139 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) AATAATGGAAGAACAGCACAA 0.388000 12 23 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148906 103148906 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103148906G>A ENST00000295269.4 + 12 2613 c.2156G>A c.(2155-2157)gGa>gAa p.G719E NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 719 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.G719E(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CTACACAGAGGAAGGAAGGCA 0.478000 11 23 0 0 1 0 0 SSMEM1 136263 broad.mit.edu 37 7 129856227 129856227 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:129856227C>T ENST00000297819.3 + 3 703 c.652C>T c.(652-654)Cct>Tct p.P218S NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 CCGACAGAAGCCTTCAGTAAC 0.428000 67 278 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208632225 208632225 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:208632225C>T ENST00000295417.3 - 2 1792 c.1239G>A c.(1237-1239)ctG>ctA p.L413L NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 413 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) GCGTGCCCACCAGCAGGTAGA 0.662000 11 19 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27690693 27690693 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:27690693T>G ENST00000282344.6 - 2 345 c.89A>C c.(88-90)gAa>gCa p.E30A NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 30 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CGGAAACTGTTCTGGACCAAT 0.358000 16 32 0 0 1 0 0 CRH 1392 broad.mit.edu 37 8 67089128 67089128 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67089128C>T ENST00000276571.3 - 2 1031 c.585G>A c.(583-585)ggG>ggA p.G195G NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 195 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) CGTTTTATTTCCCAATAATCT 0.433000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 13 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100466372 100466372 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100466372G>A ENST00000200457.4 + 4 979 c.619G>A c.(619-621)Gaa>Aaa p.E207K NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 207 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) AGGCCGAGGTGAAGTCTGGGG 0.697000 5 5 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125329866 125329866 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125329866C>T ENST00000304865.2 - 1 972 c.891G>A c.(889-891)ctG>ctA p.L297L NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGCCCTGTTTCAGGTCTTTGT 0.453000 36 71 0 0 1 0 0 ECHDC3 79746 broad.mit.edu 37 10 11789354 11789354 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:11789354C>T ENST00000379215.4 + 2 388 c.177C>T c.(175-177)atC>atT p.I59I ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969.2 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 59 mitochondrion catalytic activity p.I59I(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 ACAGGAACATCGTCTTGAGCA 0.443000 18 35 0 0 1 0 0 TNFSF8 944 broad.mit.edu 37 9 117666537 117666537 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:117666537G>A ENST00000223795.2 - 4 492 c.379C>T c.(379-381)Cag>Tag p.Q127* TNFSF8_ENST00000474301.1_5'UTR NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 127 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 TTCCCATCCTGATATCTGACT 0.383000 39 72 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130117739 130117739 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:130117739C>T ENST00000373387.4 + 20 2275 c.1923C>T c.(1921-1923)ttC>ttT p.F641F GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Silent_p.F641F|GARNL3_ENST00000435213.2_Silent_p.F619F NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 641 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TTGAAGAATTCCAGTACATCA 0.453000 114 228 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31311936 31311936 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:31311936G>A ENST00000269197.5 + 9 884 c.884G>A c.(883-885)gGa>gAa p.G295E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCCTAGATGGGAAGTGATGGA 0.403000 23 67 0 0 1 0 0 PRRG2 5639 broad.mit.edu 37 19 50086495 50086495 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50086495C>T ENST00000246794.5 + 2 188 c.19C>T c.(19-21)Ctg>Ttg p.L7L PRRG2_ENST00000596700.1_Intron NM_000951.2 NP_000942.1 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 7 extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CCACCCCTCTCTGCTGCTGCT 0.522000 15 16 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107006984 107006984 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:107006984C>T ENST00000369701.3 + 22 3227 c.3000C>T c.(2998-3000)ttC>ttT p.F1000F SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1000 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGAATATTTCCAGTCCCAGC 0.468000 7 35 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656920 8656920 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8656920G>A ENST00000270328.4 - 13 1921 c.1655C>T c.(1654-1656)cCg>cTg p.P552L ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552L|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R43C Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 552 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGGAGTCCACGGCCCCCAGGC 0.682000 13 19 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5274318 5274318 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:5274318G>A ENST00000372412.4 - 3 362 c.129C>T c.(127-129)atC>atT p.I43I PTPRS_ENST00000357368.4_Silent_p.I43I|PTPRS_ENST00000588012.1_Silent_p.I43I|PTPRS_ENST00000592099.1_Silent_p.I43I|PTPRS_ENST00000353284.2_Silent_p.I43I|PTPRS_ENST00000262963.6_Silent_p.I43I|PTPRS_ENST00000590509.1_Silent_p.I43I|PTPRS_ENST00000348075.2_Silent_p.I43I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.I43I Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 43 Ig-like C2-type 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCGACACGCCGATCTGGTCCT 0.592000 7 18 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142195337 142195337 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:142195337C>G ENST00000519811.1 + 18 3114 c.3044C>G c.(3043-3045)aCc>aGc p.T1015S DENND3_ENST00000262585.2_Missense_Mutation_p.T935S|DENND3_ENST00000424248.1_Missense_Mutation_p.T883S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 935 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCTTCATGGACCATCCACCAG 0.498000 73 29 0 0 1 0 0 BCL2L15 440603 broad.mit.edu 37 1 114424588 114424588 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:114424588G>A ENST00000393316.3 - 3 452 c.281C>T c.(280-282)tCt>tTt p.S94F BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA NM_001010922.2 NP_001010922.1 Q5TBC7 B2L15_HUMAN BCL2-like 15 94 apoptosis breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1) 9 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGCTGAGAGATTCCACAGT 0.473000 7 20 0 0 1 0 0 TRBV6-6 28601 broad.mit.edu 37 7 142162336 142162336 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142162336C>T ENST00000390371.3 - 0 71 AGAGGAAAGGCTGCACAGCAC 0.577000 12 69 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138670542 138670542 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138670542G>A ENST00000298480.5 + 23 2677 c.2603G>A c.(2602-2604)aGc>aAc p.S868N KCNT1_ENST00000263604.3_Missense_Mutation_p.S849N|KCNT1_ENST00000491806.2_Missense_Mutation_p.S835N|KCNT1_ENST00000490355.2_Missense_Mutation_p.S847N|KCNT1_ENST00000488444.2_Missense_Mutation_p.S849N|KCNT1_ENST00000487664.1_Missense_Mutation_p.S823N|KCNT1_ENST00000371757.2_Missense_Mutation_p.S868N|KCNT1_ENST00000486577.2_Missense_Mutation_p.S827N B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 868 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGCCTGGACAGCCTGCTGCAG 0.652000 31 52 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17228461 17228461 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:17228461C>T ENST00000261381.6 - 9 1980 c.1896G>A c.(1894-1896)gaG>gaA p.E632E CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 632 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGTAGACATTCTCCCAGTAGG 0.582000 32 66 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858202 9858202 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:9858202G>A ENST00000396573.2 - 14 3508 c.3199C>T c.(3199-3201)Cgg>Tgg p.R1067W GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1067 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R1067W(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACGTGGCCCGATTTGACGTT 0.498000 62 24 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400835 89400835 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89400835C>T ENST00000439576.2 + 12 5393 c.5019C>T c.(5017-5019)tcC>tcT p.S1673S ACAN_ENST00000561243.1_Silent_p.S1673S|ACAN_ENST00000352105.7_Silent_p.S1673S|ACAN_ENST00000559004.1_Silent_p.S1673S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1673 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCACAGCCTCCACTGCAAGTG 0.537000 56 105 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883186 48883186 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:48883186C>T ENST00000262105.2 + 11 1759 c.1550C>T c.(1549-1551)tCc>tTc p.S517F MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.S517F NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 517 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACCAGCAAGTCCCAGCTGCTG 0.557000 15 76 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54776409 54776409 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:54776409G>A ENST00000218436.6 - 13 3890 c.3861C>T c.(3859-3861)ccC>ccT p.P1287P NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1287 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AAGCCCAGCGGGGCAGCAGCC 0.582000 10 7 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76243179 76243179 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:76243179C>T ENST00000298832.9 + 23 2578 c.2373C>T c.(2371-2373)ttC>ttT p.F791F TTLL5_ENST00000557636.1_Silent_p.F805F|TTLL5_ENST00000556893.1_Silent_p.F342F|TTLL5_ENST00000554510.1_Silent_p.F300F|TTLL5_ENST00000555422.1_3'UTR NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 791 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TTCAGGAGTTCATCAGACAAG 0.388000 29 51 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152195 45152195 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:45152195G>A ENST00000296129.1 - 4 928 c.794C>T c.(793-795)tCc>tTc p.S265F CDCP1_ENST00000425231.2_Missense_Mutation_p.S265F NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 265 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GTTGAGGAAGGAGACGCTGGC 0.572000 33 66 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45317449 45317449 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45317449C>T ENST00000391955.1 + 7 869 c.825C>T c.(823-825)tcC>tcT p.S275S BCAM_ENST00000270233.6_Silent_p.S275S P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 275 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCAGCCCGTCCACCCCAGCAG 0.637000 58 48 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128624170 128624170 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:128624170C>T ENST00000371122.4 - 15 1945 c.e15-1 SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding 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 GTGCTCGATCCTAGTAGAAAG 0.333000 14 10 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904360 5904360 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:5904360C>T ENST00000378961.4 + 4 1774 c.1570C>T c.(1570-1572)Cca>Tca p.P524S NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 524 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ACTGTTCAACCCATACTACGA 0.438000 19 39 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105577343 105577343 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:105577343G>A ENST00000314641.5 - 3 478 c.262C>T c.(262-264)Cga>Tga p.R88* BVES_ENST00000336775.5_Nonsense_Mutation_p.R88*|BVES_ENST00000446408.2_Nonsense_Mutation_p.R88* NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 88 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AAGGCACATCGGTAGAGAGTG 0.393000 5 48 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108118020 108118020 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:108118020C>T ENST00000273353.3 - 35 4947 c.4891G>A c.(4891-4893)Gaa>Aaa p.E1631K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1631 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGGTCCTCTTCCATCTTCTTC 0.493000 24 53 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17483217 17483217 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:17483217G>A ENST00000302539.4 - 5 860 c.735C>T c.(733-735)atC>atT p.I245I ABCC8_ENST00000389817.3_Silent_p.I245I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 245 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTCGCAAGTCGATGGGCTTCT 0.607000 33 58 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913053 32913053 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:32913053C>T ENST00000544455.1 + 11 4788 c.4561C>T c.(4561-4563)Cta>Tta p.L1521L BRCA2_ENST00000380152.3_Silent_p.L1521L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1521 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGAACCTACTCTATTGGGTTT 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 22 43 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967703 106967703 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967703C>T ENST00000369066.3 + 2 1883 c.1396C>T c.(1396-1398)Ctt>Ttt p.L466F NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 466 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGGCCTTCTCTTTCACTGTC 0.488000 40 35 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411926 126411926 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126411926C>T ENST00000394329.3 + 17 13962 c.13949C>T c.(13948-13950)tCa>tTa p.S4650L FAT4_ENST00000335110.5_Missense_Mutation_p.S2891L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4650 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 CCAAAATTTTCAATCCAGAGG 0.498000 13 20 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936189 4936189 + Silent SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4936189G>T ENST00000322013.3 - 1 733 c.705C>A c.(703-705)tcC>tcA p.S235S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCAGCCCTGGAGGCGATGG 0.522000 22 26 1.55795e-14 1.57818e-14 1 1 0 HCAR3 8843 broad.mit.edu 37 12 123200193 123200193 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:123200193G>A ENST00000528880.2 - 1 1246 c.1092C>T c.(1090-1092)aaC>aaT p.N364N HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 364 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) TCTTGGAATGGTTATTTGAGG 0.527000 40 92 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248023992 248023992 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248023992G>A ENST00000366481.3 + 2 542 c.494G>A c.(493-495)gGg>gAg p.G165E NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 165 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCAACGTGGGGAAAAAGACT 0.473000 16 41 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206711542 206711542 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:206711542C>T ENST00000338603.2 + 2 556 c.499C>T c.(499-501)Cag>Tag p.Q167* RASSF5_ENST00000355294.4_Nonsense_Mutation_p.Q167*|RASSF5_ENST00000367117.3_Nonsense_Mutation_p.Q167* NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 167 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAGCCTGATCCAGTTGGACTG 0.542000 52 99 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922810 24922810 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24922810C>T ENST00000329468.2 + 1 2270 c.1796C>T c.(1795-1797)tCt>tTt p.S599F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGAGTGAGCTCTCTCCCAAAT 0.468000 24 41 0 0 1 0 0 LYL1 4066 broad.mit.edu 37 19 13211542 13211542 + Missense_Mutation SNP C C T rs149285767 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13211542C>T ENST00000264824.4 - 3 716 c.356G>A c.(355-357)gGa>gAa p.G119E NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 119 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GCTAAAAGGTCCTGCTGGCCC 0.602000 T TRB@ T-ALL 67 96 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140432990 140432990 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:140432990G>A ENST00000274031.3 - 8 1564 c.928C>T c.(928-930)Cac>Tac p.H310Y SETD7_ENST00000506866.2_Intron NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 310 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) AAACGGGGGTGGACAAACCTA 0.587000 20 53 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104242787 104242787 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:104242787G>A ENST00000369905.4 - 7 794 c.731C>T c.(730-732)cCt>cTt p.P244L ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Missense_Mutation_p.P197L|ACTR1A_ENST00000487599.1_Missense_Mutation_p.P244L|ACTR1A_ENST00000545684.1_Missense_Mutation_p.P170L NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 244 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) GCTGCCATCAGGCAGGTAGTA 0.527000 48 99 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10059651 10059651 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:10059651G>A ENST00000432401.1 - 0 505 CCCTTGGGGGGATGCCCGTCC 0.602000 32 50 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43716006 43716006 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:43716006C>T ENST00000360835.3 - 3 412 c.286G>A c.(286-288)Ggg>Agg p.G96R SCUBE1_ENST00000290460.7_Missense_Mutation_p.G96R NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 96 EGF-like 2; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTGTAGTTCCCCGGGATGTTG 0.527000 39 84 0 0 1 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066336 241066336 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:241066336C>T ENST00000307266.3 - 5 402 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTGCCACTTCTCTCCCGTTC 0.567000 15 49 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15592017 15592017 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:15592017G>A ENST00000400577.3 + 2 239 c.230G>A c.(229-231)gGa>gAa p.G77E RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 77 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGTTTATATGGAAGACCAATT 0.388000 11 16 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76463687 76463687 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:76463687C>T ENST00000396423.2 + 4 541 c.417C>T c.(415-417)ccC>ccT p.P139P HNF4G_ENST00000354370.1_Silent_p.P102P NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 102 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GCAACATCCCCTCCATTAACA 0.448000 25 61 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945843 55945843 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55945843C>T ENST00000394256.2 + 1 861 c.833C>T c.(832-834)tCg>tTg p.S278L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CTCATTACTTCGGTTACTCCC 0.368000 27 33 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47628852 47628852 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:47628852C>T ENST00000546455.1 + 4 737 c.6C>T c.(4-6)atC>atT p.I2I PCED1B_ENST00000432328.1_Silent_p.I2I PC-esterase domain containing 1B GCGTCATGATCCTTCTGCGGG 0.592000 15 26 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850924 13850924 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850924C>T ENST00000265104.4 - 31 5055 c.4950_splice c.e31-1 p.E1651_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1651 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCTTGGCTTCCTATGAGAAC 0.453000 Kartagener syndrome 22 60 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333503 37333503 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37333503G>A ENST00000262825.5 + 14 1888 c.1671G>A c.(1669-1671)ggG>ggA p.G557G CSF2RB_ENST00000406230.1_Silent_p.G557G|CSF2RB_ENST00000536485.1_Silent_p.G498G|CSF2RB_ENST00000403662.3_Silent_p.G551G NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 551 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CACCATCTGGGCCTGACACGA 0.612000 32 17 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826653 144826653 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:144826653C>T ENST00000358615.4 - 1 59 c.8G>A c.(7-9)gGa>gAa p.G3E GYPE_ENST00000437468.2_Missense_Mutation_p.G3E NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 3 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) GATTATTTTTCCATACATCCT 0.373000 18 44 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161116141 161116141 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:161116141A>T ENST00000523217.1 + 4 624 c.382A>T c.(382-384)Ata>Tta p.I128L RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.I138L NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 138 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTCTTCAGAATAATGCAGAA 0.373000 TCGA Ovarian(5;0.080) 13 24 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65551759 65551759 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65551759G>A ENST00000261888.6 - 6 1403 c.958C>T c.(958-960)Cgt>Tgt p.R320C PARP16_ENST00000444347.2_Missense_Mutation_p.R204C NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 319 integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CTTTTCGCACGATTCCAAAAG 0.478000 63 130 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 621573 621573 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:621573C>T ENST00000358353.3 - 6 818 c.496G>A c.(496-498)Gaa>Aaa p.E166K CDHR5_ENST00000397542.2_Missense_Mutation_p.E166K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E166K Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 166 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GCTGTCATTTCCTGGAGGGTG 0.637000 31 61 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182129 182129 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:182129G>A ENST00000283426.6 + 18 3557 c.3507G>A c.(3505-3507)atG>atA p.M1169I NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1169 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGTCACAAATGAGAGGGTCCA 0.597000 14 51 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78058748 78058748 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:78058748C>T ENST00000397545.4 + 13 2223 c.2196C>T c.(2194-2196)ttC>ttT p.F732F CCDC40_ENST00000374877.3_Silent_p.F732F NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 732 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCATCAACTTCCTCAACAAGC 0.617000 21 20 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102626085 102626085 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:102626085G>A ENST00000332549.3 + 3 358 c.129G>A c.(127-129)ggG>ggA p.G43G IL1R2_ENST00000393414.2_Silent_p.G43G|IL1R2_ENST00000441002.1_Silent_p.G43G NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 43 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GGCTGGAAGGGGAGCCTGTAG 0.597000 40 87 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797299 38797299 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38797299G>A ENST00000449082.2 - 10 1440 c.1441C>T c.(1441-1443)Cct>Tct p.P481S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 481 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) tGGTTGTAAGGATCAGAGCGG 0.488000 48 99 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635800 32635800 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:32635800G>A ENST00000335185.5 - 16 2107 c.2064C>T c.(2062-2064)gtC>gtT p.V688V NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 688 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TATCATTACAGACTTGCAGAA 0.303000 14 34 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59925190 59925190 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59925190C>T ENST00000256858.6 + 14 2154 c.1906C>T c.(1906-1908)Cgt>Tgt p.R636C KIAA1468_ENST00000398130.2_Missense_Mutation_p.R636C Q9P260 K1468_HUMAN KIAA1468 636 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) GAAAGAAATCCGTAGCTCCTT 0.333000 12 48 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365156 92365156 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:92365156G>A ENST00000276609.3 + 11 1485 c.1246G>A c.(1246-1248)Gga>Aga p.G416R SLC26A7_ENST00000523719.1_Missense_Mutation_p.G416R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G416R|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 416 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TATTGTTGTGGGACTGAAGGG 0.313000 115 23 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52860887 52860887 + Nonsense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52860887C>A ENST00000266041.4 - 4 535 c.439G>T c.(439-441)Gag>Tag p.E147* ITIH4_ENST00000406595.1_Nonsense_Mutation_p.E147*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.E147*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.E147*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.E59* NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 147 VIT. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCAGCTCCTCATAGACCAGC 0.602000 26 34 3.1745e-13 3.21263e-13 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60566687 60566687 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:60566687C>G ENST00000400324.4 - 10 1265 c.1045G>C c.(1045-1047)Gtt>Ctt p.V349L DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V279L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V349L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V338L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V349L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V303L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 349 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGAGATGTAACCAGGGCATTG 0.413000 3 39 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92654570 92654570 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:92654570C>T ENST00000413330.1 + 7 506 c.471C>T c.(469-471)agC>agT p.S157S RPP30_ENST00000371703.3_Silent_p.S157S|RPP30_ENST00000489806.1_3'UTR NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 157 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 TTGTCTATAGCCCTGCTATCA 0.413000 36 76 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004713 248004713 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248004713C>T ENST00000355784.2 - 1 541 c.486G>A c.(484-486)atG>atA p.M162I NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M162I(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCTGGAAATCATCAGGGAAG 0.557000 37 73 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64738853 64738853 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:64738853G>A ENST00000413366.3 + 13 1525 c.1499G>A c.(1498-1500)gGg>gAg p.G500E NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 500 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ACCTTCTGTGGGACTCCAGAT 0.483000 11 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412731 179412731 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179412731C>T ENST00000589042.1 - 339 93846 c.93622G>A c.(93622-93624)Gag>Aag p.E31208K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22143K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29567K|TTN_ENST00000342992.6_Missense_Mutation_p.E28640K|TTN_ENST00000342175.6_Missense_Mutation_p.E22335K|TTN_ENST00000359218.5_Missense_Mutation_p.E22268K|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29567 Fibronectin type-III 127. 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) ATTTGAGGCTCCTTAATGATG 0.453000 10 9 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395406 115395406 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:115395406G>A ENST00000393780.3 + 3 1153 c.685G>A c.(685-687)Gcc>Acc p.A229T GAP43_ENST00000305124.6_Missense_Mutation_p.A193T NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 193 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CAAGGCAACAGCCCAGCCTCC 0.612000 4 12 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63937265 63937265 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:63937265G>A ENST00000443617.2 - 57 11197 c.11110C>T c.(11110-11112)Cgc>Tgc p.R3704C NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3704 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGAGGAATGCGCCAAACACAT 0.383000 55 83 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12919117 12919117 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12919117G>A ENST00000338034.4 - 4 639 c.400C>T c.(400-402)Cca>Tca p.P134S ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.P134S|ELAC2_ENST00000395962.2_Missense_Mutation_p.P115S NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 134 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 ACACACTTTGGAAGCCCGGTT 0.393000 36 69 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228402711 228402711 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:228402711G>A ENST00000570156.2 + 5 1814 c.1740G>A c.(1738-1740)gcG>gcA p.A580A OBSCN_ENST00000284548.11_Silent_p.A580A|OBSCN_ENST00000422127.1_Silent_p.A580A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 580 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGATGTGGCGGAGGAGGGGA 0.592000 8 4 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40415935 40415935 + Silent SNP C C T rs142043340 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:40415935C>T ENST00000333407.5 + 3 796 c.702C>T c.(700-702)ccC>ccT p.P234P FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 234 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TCTACATGCCCATGGGGAGGA 0.587000 41 54 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720153 160720153 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160720153C>T ENST00000368043.3 + 4 746 c.709C>T c.(709-711)Ctg>Ttg p.L237L SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L130L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L237L|SLAMF7_ENST00000458104.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 237 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGTGCCCCTCCTGCTCAGTCT 0.502000 57 124 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123512584 123512584 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:123512584G>A ENST00000360772.3 - 5 483 c.105C>T c.(103-105)ttC>ttT p.F35F MYLK_ENST00000475616.1_Silent_p.F35F|MYLK_ENST00000346322.5_Silent_p.F35F|MYLK_ENST00000359169.1_Silent_p.F35F|MYLK_ENST00000360304.3_Silent_p.F35F Q15746 MYLK_HUMAN myosin light chain kinase 35 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGGGCAAAATGAAAGCAGGGG 0.567000 13 19 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39623286 39623286 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39623286C>T ENST00000225899.3 - 1 395 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 98 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TGCATGGTTTCCTTCTCATTG 0.607000 39 64 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:45458398C>T ENST00000548424.1 + 0 448 TACCTGTTTTCCTTTGGCTCC 0.522000 6 21 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75884292 75884292 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:75884292G>A ENST00000266659.3 + 3 728 c.527G>A c.(526-528)gGa>gAa p.G176E NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 176 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TGCAACTACGGACCAGGGTAA 0.438000 18 16 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611580 47611580 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47611580C>T ENST00000371891.3 + 10 1296 c.1265C>T c.(1264-1266)cCa>cTa p.P422L CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P422L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P324L NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 422 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACCACAACCCAAAAGTGTGG 0.517000 116 173 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120101 103120101 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103120101C>T ENST00000295269.4 + 3 1372 c.915C>T c.(913-915)atC>atT p.I305I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 305 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AGCCACTCATCGTCTTCATGT 0.428000 31 38 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671293 49671293 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:49671293C>T ENST00000252826.5 + 4 513 c.387C>T c.(385-387)gtC>gtT p.V129V TRPM4_ENST00000427978.2_Silent_p.V129V|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 129 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGGCCCCGTCCTCCAGACCT 0.682000 45 73 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714074 70714074 + RNA SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70714074G>C ENST00000530196.1 - 0 444 NR_003951.1 ATGAAGAGCTGATCCTCCAGG 0.498000 11 70 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878113 133878113 + Silent SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:133878113T>A ENST00000427044.2 - 15 1723 c.1113A>T c.(1111-1113)cgA>cgT p.R371R RYK_ENST00000296084.4_Silent_p.R561R P34925 RYK_HUMAN receptor-like tyrosine kinase 557 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 GCTGGGCTATTCGGTAACCAT 0.453000 15 19 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51470516 51470516 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51470516G>A ENST00000376851.3 - 3 545 c.106C>T c.(106-108)Caa>Taa p.Q36* KLK6_ENST00000594641.1_Nonsense_Mutation_p.Q36*|KLK6_ENST00000376853.4_Nonsense_Mutation_p.Q36*|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Nonsense_Mutation_p.Q36*|KLK6_ENST00000424910.2_Intron NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 36 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGGGCAGCTTGGTAGGGGTGA 0.567000 19 32 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31214502 31214502 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:31214502C>T ENST00000294507.3 - 3 317 c.243G>A c.(241-243)ctG>ctA p.L81L NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 81 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CTACGCCGATCAGTAGGCTCA 0.612000 4 6 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68500193 68500193 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:68500193G>A ENST00000322244.4 - 21 1945 c.1886C>T c.(1885-1887)tCc>tTc p.S629F NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 629 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AGCTGGAAAGGATTTTAGAGT 0.333000 29 54 0 0 1 0 0 FAM86B1 85002 broad.mit.edu 37 8 12042957 12042957 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:12042957G>A ENST00000448228.2 - 6 767 c.718C>T c.(718-720)Cgg>Tgg p.R240W FAM86B1_ENST00000534520.1_Missense_Mutation_p.A151V|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R274W|FAM86B1_ENST00000321602.8_Missense_Mutation_p.R46W NM_001083537.1 NP_001077006.1 Q8N7N1 F86B1_HUMAN family with sequence similarity 86, member B1 240 kidney(1)|prostate(1)|stomach(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) TCAGGAGCCCGCTTGTGCTCC 0.632000 9 41 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201063015 201063015 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:201063015G>A ENST00000362061.3 - 3 619 c.393C>T c.(391-393)ttC>ttT p.F131F CACNA1S_ENST00000367338.3_Silent_p.F131F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 131 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) CTCACCCCAGGAAGACAATGG 0.577000 22 55 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336367 147336367 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:147336367C>T ENST00000361727.3 + 13 2583 c.2067C>T c.(2065-2067)ttC>ttT p.F689F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 689 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCTCCTATTTCTGCAAGATGT 0.448000 HNSCC(39;0.1) 16 62 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049344 70049344 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70049344C>T ENST00000330891.5 - 10 1576 c.1350G>A c.(1348-1350)tgG>tgA p.W450* BEST3_ENST00000553096.1_Nonsense_Mutation_p.W344*|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Nonsense_Mutation_p.W237* NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 450 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGGATTTCTTCCAGGTGGGTG 0.587000 16 31 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55874943 55874943 + Missense_Mutation SNP C C T rs78957351 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:55874943C>T ENST00000388975.3 - 8 942 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 276 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGTGATTTTCATTTTCCACT 0.313000 11 23 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34937857 34937857 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34937857C>T ENST00000360359.3 + 3 487 c.349C>T c.(349-351)Ctg>Ttg p.L117L ANKS1A_ENST00000535627.1_Silent_p.L117L NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 117 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTACCCTCTGCATTTGGC 0.522000 30 119 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111061227 111061227 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:111061227C>T ENST00000369771.2 - 1 570 c.183G>A c.(181-183)acG>acA p.T61T NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 61 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.T61T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGGAGAAGGCCGTCTCATGGT 0.582000 26 50 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714696 183714696 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:183714696G>A ENST00000511685.1 + 26 6994 c.6871G>A c.(6871-6873)Gaa>Aaa p.E2291K TENM3_ENST00000406950.2_Missense_Mutation_p.E2291K teneurin transmembrane protein 3 CAGTGGGGATGAATTCTATAT 0.423000 4 20 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200572378 200572378 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:200572378G>A ENST00000367350.4 - 10 2393 c.1955C>T c.(1954-1956)cCt>cTt p.P652L NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 652 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTCACGATAAGGAATAAAAAC 0.338000 25 52 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228128517 228128517 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:228128517G>A ENST00000396578.3 + 21 1334 c.1172G>A c.(1171-1173)aGa>aAa p.R391K AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 391 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCTGGCCTCAGAGGAGCCCCT 0.468000 5 12 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947509 148947509 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:148947509C>T ENST00000335870.2 + 2 412 c.284C>T c.(283-285)gCc>gTc p.A95V NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGCAAGTGGGCCGTGCTGGGG 0.642000 39 139 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266349 38266349 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:38266349G>A ENST00000379705.3 - 4 1878 c.1021C>T c.(1021-1023)Cct>Tct p.P341S TRPC4_ENST00000379679.1_Missense_Mutation_p.P168S|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341S|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341S|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341S Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 341 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GAGAAGACAGGAAAAAGAAGT 0.473000 14 14 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57258104 57258104 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57258104C>T ENST00000343433.6 - 2 462 c.382G>A c.(382-384)Gaa>Aaa p.E128K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 128 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATTACTTTTTCCTTAGTGATT 0.428000 33 99 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115759671 115759671 + RNA SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:115759671A>C ENST00000427548.1 - 0 2142 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ATAGGGTTTCACACAAGAATG 0.383000 44 118 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82996972 82996972 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82996972T>C ENST00000307792.3 - 17 2725 c.2258A>G c.(2257-2259)aAc>aGc p.N753S SEMA3E_ENST00000427262.1_Missense_Mutation_p.N693S NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 753 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTCCTGAGGGTTGGCATACTT 0.483000 62 118 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331460 70331460 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:70331460C>T ENST00000338508.4 - 32 4940 c.4941G>A c.(4939-4941)ctG>ctA p.L1647L SHANK2_ENST00000449833.2_Silent_p.L1051L|SHANK2_ENST00000423696.2_Silent_p.L1267L|SHANK2_ENST00000409161.1_Silent_p.L1050L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1267 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGGTGAATCCAGTCCTTCCC 0.552000 34 55 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3143430 3143430 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:3143430C>T ENST00000446632.2 - 5 887 c.313G>A c.(313-315)Gac>Aac p.D105N IL5RA_ENST00000430514.2_Missense_Mutation_p.D105N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D105N|IL5RA_ENST00000438560.1_Missense_Mutation_p.D105N|IL5RA_ENST00000456302.1_Missense_Mutation_p.D105N|IL5RA_ENST00000383846.1_Missense_Mutation_p.D105N|IL5RA_ENST00000445864.2_Missense_Mutation_p.D105N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D105N|IL5RA_ENST00000418488.2_Missense_Mutation_p.D105N NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 105 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity p.D105N(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) AGTGAGTGGTCGTTCTGCAGG 0.473000 24 35 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129511477 129511477 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:129511477G>A ENST00000421865.2 + 11 1644 c.1595G>A c.(1594-1596)tGg>tAg p.W532* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 532 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGTTCCTACTGGACCTATGGC 0.443000 7 5 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259901 47259901 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:47259901C>T ENST00000318584.5 + 4 1491 c.1194C>T c.(1192-1194)gtC>gtT p.V398V FKRP_ENST00000391909.3_Silent_p.V398V|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 398 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) AGAAGGCGGTCGAGGGCGACT 0.632000 5 9 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53779725 53779725 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53779725C>T ENST00000288139.3 + 25 3259 c.3141C>T c.(3139-3141)ttC>ttT p.F1047F CACNA1D_ENST00000422281.2_Silent_p.F1027F|CACNA1D_ENST00000350061.5_Silent_p.F1027F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1027 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCCTGCAGTTCATGTTTGCCT 0.537000 29 48 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967226 142967226 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:142967226C>T ENST00000370494.1 + 1 54 c.24C>T c.(22-24)atC>atT p.I8I NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 8 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGATCATCAAGGAAA 0.458000 34 13 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886751 144886751 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144886751G>A ENST00000356994.2 - 21 3002 c.2996C>T c.(2995-2997)cCa>cTa p.P999L SCRIB_ENST00000377533.3_Missense_Mutation_p.P918L|SCRIB_ENST00000320476.3_Missense_Mutation_p.P999L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 999 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTGGGTATGGCCCTTCCAA 0.672000 25 6 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35793411 35793411 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35793411C>T ENST00000361922.4 + 7 1181 c.1031C>T c.(1030-1032)tCt>tTt p.S344F MAG_ENST00000392213.3_Missense_Mutation_p.S344F|MAG_ENST00000537831.2_Missense_Mutation_p.S319F NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 344 Ig-like C2-type 3. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GAGACGGTCTCTATCTTGTGC 0.582000 19 30 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803388 27803388 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:27803388G>A ENST00000408964.2 + 1 4000 c.3949G>A c.(3949-3951)Gaa>Aaa p.E1317K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1317 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCCTTCTAGGGAATTAGCAGC 0.398000 15 20 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269665 150269665 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150269665G>A ENST00000255945.2 + 3 682 c.507G>A c.(505-507)agG>agA p.R169R GIMAP4_ENST00000461940.1_Silent_p.R183R|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 169 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTACTTAAGGGAAGCTCCAG 0.468000 71 51 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186329176 186329176 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:186329176G>A ENST00000264689.6 - 9 1151 c.1035C>T c.(1033-1035)gtC>gtT p.V345V NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 345 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GCCGCGATCCGACAAATGTTG 0.398000 3 51 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155215199 155215199 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155215199G>A ENST00000460012.1 - 15 2071 c.1714C>T c.(1714-1716)Cgc>Tgc p.R572C PLCH1_ENST00000340059.7_Missense_Mutation_p.R590C|PLCH1_ENST00000447496.2_Missense_Mutation_p.R590C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R572C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R572C|PLCH1_ENST00000494598.1_Missense_Mutation_p.R590C Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 590 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTCCTTCGGCGACCCAATCTG 0.463000 27 44 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139733736 139733736 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139733736C>T ENST00000371675.3 + 12 2096 c.1211C>T c.(1210-1212)cCc>cTc p.P404L RABL6_ENST00000432842.2_Intron|RABL6_ENST00000371663.4_Missense_Mutation_p.P520L|RABL6_ENST00000311502.7_Missense_Mutation_p.P519L|RABL6_ENST00000357466.2_Intron RAB, member RAS oncogene family-like 6 GCAGCACCCCCCTGGCCAGGC 0.667000 3 6 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334316 35334316 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:35334316G>A ENST00000373347.1 - 9 2643 c.2375C>T c.(2374-2376)cCa>cTa p.P792L DLGAP3_ENST00000235180.4_Missense_Mutation_p.P792L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 792 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCGTCGCGTGGGCAGGGGGA 0.697000 26 33 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4414375 4414375 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4414375G>A ENST00000251166.4 - 14 1322 c.1177C>T c.(1177-1179)Ccg>Tcg p.P393S CORO7_ENST00000574025.1_Missense_Mutation_p.P308S|CORO7_ENST00000423908.2_Missense_Mutation_p.P225S|CORO7_ENST00000539968.1_Missense_Mutation_p.P173S|CORO7_ENST00000537233.2_Missense_Mutation_p.P375S|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P393S NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 GTGAAGCTCGGGTGGGGCCGG 0.697000 5 7 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860627 16860627 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16860627C>T ENST00000524140.2 + 6 1592 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* NWD1_ENST00000339803.6_Nonsense_Mutation_p.Q257*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.Q392*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.Q392*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.Q186*|NWD1_ENST00000552788.1_Nonsense_Mutation_p.Q392* NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 392 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATCTGCTTCCAGGTGTGCCT 0.627000 10 27 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115117739 115117739 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:115117739C>T ENST00000257566.3 - 3 1085 c.696G>A c.(694-696)ggG>ggA p.G232G TBX3_ENST00000349155.2_Intron NM_016569.3 NP_057653.3 O15119 TBX3_HUMAN T-box 3 232 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AACTATAATTCCCCTGCCACG 0.443000 24 42 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19643780 19643780 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19643780C>T ENST00000457500.2 - 6 1147 c.818G>A c.(817-819)gGg>gAg p.G273E ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G273E|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G273E|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G200E NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 273 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGCATCTTCCCCGTAGAACTC 0.572000 22 68 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160262956 160262956 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160262956C>T ENST00000241704.7 - 27 3052 c.2823_splice c.e27+1 p.R941_splice COPA_ENST00000368069.3_Splice_Site_p.R950_splice NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 941 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTACTTACCCGCATGGCTG 0.468000 43 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614350 179614350 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179614350G>A ENST00000360870.5 - 46 12999 c.12777C>T c.(12775-12777)ttC>ttT p.F4259F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 410 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) CAATATTTTCGAATTGACTAT 0.373000 13 21 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176461 57176461 + Nonsense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57176461C>A ENST00000537055.2 - 2 337 c.106G>T c.(106-108)Gag>Tag p.E36* NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCCTCTGGCTCTGGACAGCTT 0.602000 14 33 5.35267e-07 5.38849e-07 1 1 0 ZSCAN20 7579 broad.mit.edu 37 1 33959884 33959884 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33959884G>A ENST00000361328.3 + 8 2093 c.1940G>A c.(1939-1941)gGa>gAa p.G647E NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 647 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGTTTGCCTGGAGCCTTATCA 0.428000 21 30 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72462070 72462070 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:72462070G>A ENST00000373208.1 + 3 525 c.525G>A c.(523-525)gcG>gcA p.A175A ADAMTS14_ENST00000373207.1_Silent_p.A175A NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 175 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A175A(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGGTTCAGGCGGGCCTCATCC 0.587000 38 70 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587879 247587879 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247587879G>A ENST00000366497.2 + 4 1914 c.1134G>A c.(1132-1134)agG>agA p.R378R NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.R378R|NLRP3_ENST00000391827.2_Silent_p.R378R|NLRP3_ENST00000348069.2_Silent_p.R378R|NLRP3_ENST00000366496.2_Silent_p.R378R|NLRP3_ENST00000336119.3_Silent_p.R378R NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 378 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGCCAAAAGGAAAGAGTACT 0.542000 14 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615363 179615363 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179615363C>T ENST00000360870.5 - 46 11986 c.11764G>A c.(11764-11766)Gaa>Aaa p.E3922K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9742 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) TCCTTCTGTTCGGTTTTGAAT 0.338000 7 16 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11191209 11191209 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:11191209G>A ENST00000379446.5 - 5 1059 c.893C>T c.(892-894)tCc>tTc p.S298F NEDD9_ENST00000504387.1_Missense_Mutation_p.S298F|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 298 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTGATTCGGGGACAGGCTCTG 0.572000 47 57 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55948164 55948164 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:55948164C>T ENST00000263923.4 - 29 4102 c.3807G>A c.(3805-3807)ctG>ctA p.L1269L RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1269 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCAAAGTTTTCAGCTCTTCTG 0.368000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 40 64 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22476272 22476272 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22476272C>T ENST00000390447.3 + 0 319 ATTGGTTTTCCTTATTCGTCG 0.423000 6 15 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838626 155838626 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155838626G>A ENST00000490337.1 + 1 290 c.226G>A c.(226-228)Gac>Aac p.D76N KCNAB1_ENST00000389636.5_Missense_Mutation_p.D76N NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 76 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAAGCTCTGCGACCTGTCCAG 0.617000 19 24 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284394 152284394 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152284394C>T ENST00000368799.1 - 3 3003 c.2968G>A c.(2968-2970)Gaa>Aaa p.E990K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 990 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) GCTCTGTCTTCGTGATGGGAC 0.572000 Ichthyosis 107 187 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50190418 50190418 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:50190418C>T ENST00000284509.6 - 22 2461 c.2320G>A c.(2320-2322)Gat>Aat p.D774N ATP8B4_ENST00000559829.1_Missense_Mutation_p.D774N NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 774 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCTAGGAGATCATTCTTGACA 0.393000 14 30 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53188041 53188041 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53188041G>A ENST00000417996.2 - 2 794 c.720C>T c.(718-720)tcC>tcT p.S240S KRT3_ENST00000309505.3_Silent_p.S240S NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 240 Linker 1.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TGCCTGAGATGGAACTTGTGC 0.542000 37 59 0 0 1 0 0 FRMD8 83786 broad.mit.edu 37 11 65168331 65168331 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65168331C>T ENST00000317568.5 + 9 1227 c.1064C>T c.(1063-1065)tCc>tTc p.S355F FRMD8_ENST00000355991.5_Missense_Mutation_p.S299F|FRMD8_ENST00000416776.2_Missense_Mutation_p.S321F NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 355 FERM. cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 AAGATCTACTCCAAGCAGGTA 0.652000 22 27 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803495 79803495 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:79803495G>A ENST00000331483.4 - 9 1523 c.1301C>T c.(1300-1302)gCc>gTc p.A434V P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.A390V NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 434 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CACTTTGACGGCCTCCACCTC 0.582000 17 21 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199214 118199214 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:118199214G>A ENST00000425217.1 - 4 555 c.501C>T c.(499-501)tcC>tcT p.S167S KSR2_ENST00000339824.5_Silent_p.S196S NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 196 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGGGCTCTGGGAGAGATGGG 0.652000 13 18 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566602 45566602 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:45566602C>T ENST00000588982.1 - 3 1378 c.877G>A c.(877-879)Gag>Aag p.E293K ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E293K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E293K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E293K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E293K A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 293 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TCCTCCTTCTCCTCCTCCTTG 0.617000 15 63 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35506837 35506837 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35506837C>T ENST00000599564.1 + 12 1511 c.1440C>T c.(1438-1440)ttC>ttT p.F480F GRAMD1A_ENST00000411896.2_Silent_p.F386F|GRAMD1A_ENST00000317991.5_Silent_p.F393F|GRAMD1A_ENST00000504615.2_Silent_p.F159F|CTD-2527I21.14_ENST00000605640.1_RNA Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 393 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACTCGCCCTTCCTCCAGGGCT 0.632000 31 35 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18260595 18260595 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:18260595C>T ENST00000251900.4 - 14 2097 c.1938G>A c.(1936-1938)caG>caA p.Q646Q SCML2_ENST00000398048.3_Intron NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 646 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GGCCTGATATCTGAGGATCTG 0.483000 28 14 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37688708 37688708 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37688708C>T ENST00000248901.6 + 2 253 c.66C>T c.(64-66)atC>atT p.I22I CYTH4_ENST00000402997.1_Silent_p.I22I|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.I22I NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 22 regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 TACAGAGGATCAAGTGGCACC 0.607000 57 56 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65476088 65476088 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:65476088G>A ENST00000519389.1 + 17 3153 c.2974G>A c.(2974-2976)Gaa>Aaa p.E992K HEPH_ENST00000419594.1_Missense_Mutation_p.E749K|HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K Q9BQS7 HEPH_HUMAN hephaestin 938 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTATTTGGAGGAAAATGTGGC 0.433000 23 11 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805457 54805457 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:54805457C>T ENST00000306858.7 + 5 1804 c.1688C>T c.(1687-1689)tCc>tTc p.S563F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 563 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACAACTGGCTCCTCAAATTCA 0.438000 11 41 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46724658 46724658 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:46724658C>T ENST00000454366.1 + 10 2010 c.1798C>T c.(1798-1800)Cct>Tct p.P600S NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 581 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CAGGGGTTCTCCTCCTTCCCG 0.493000 65 58 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664973 16664973 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:16664973G>A ENST00000443444.2 + 13 3747 c.3607G>A c.(3607-3609)Gaa>Aaa p.E1203K CCDC144A_ENST00000456009.1_Missense_Mutation_p.E969K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1203K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1203K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1203K A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1203 ACTGTTGATTGAAGAAAGAGC 0.348000 14 35 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193061778 193061778 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193061778G>A ENST00000342358.4 - 9 998 c.881C>T c.(880-882)tCa>tTa p.S294L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 294 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) ACATGGCAATGAAAATTTTCC 0.463000 10 31 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24167439 24167439 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:24167439G>A ENST00000265769.4 + 3 293 c.183G>A c.(181-183)atG>atA p.M61I RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.M61I NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 61 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGTATAAAATGACAATTAATG 0.279000 26 35 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72388250 72388250 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:72388250C>T ENST00000333850.3 + 8 1114 c.973C>T c.(973-975)Cca>Tca p.P325S NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 325 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GGGACATGTTCCACTACTTGC 0.423000 34 69 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329602 152329602 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152329602C>T ENST00000388718.5 - 3 732 c.660G>A c.(658-660)ggG>ggA p.G220G FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 220 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATACTCCTCCCCAGATTCCC 0.453000 75 161 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42848946 42848946 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:42848946C>T ENST00000334370.4 + 12 2693 c.2058C>T c.(2056-2058)ctC>ctT p.L686L MEGF8_ENST00000251268.6_Silent_p.L686L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 754 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) TGCACTTGCTCACCTTTCAGC 0.617000 25 61 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107847068 107847068 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:107847068C>T ENST00000285311.3 - 2 966 c.261G>A c.(259-261)ggG>ggA p.G87G DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Silent_p.G41G NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 87 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGCAATACCTCCCAACTTCAC 0.502000 17 42 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43029218 43029218 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:43029218C>T ENST00000394056.2 + 3 640 c.145C>T c.(145-147)Cag>Tag p.Q49* KLC4_ENST00000458460.2_Nonsense_Mutation_p.Q49*|KLC4_ENST00000453940.2_Nonsense_Mutation_p.Q49*|KLC4_ENST00000347162.5_Nonsense_Mutation_p.Q49*|KLC4_ENST00000259708.3_Nonsense_Mutation_p.Q67*|KLC4_ENST00000479388.1_Nonsense_Mutation_p.Q49*|KLC4_ENST00000394058.1_Nonsense_Mutation_p.Q49* Q9NSK0 KLC4_HUMAN kinesin light chain 4 49 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AAGCCTGTCCCAGACCATTGA 0.617000 11 34 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760287 167760287 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:167760287G>A ENST00000409195.1 + 2 384 c.295G>A c.(295-297)Gat>Aat p.D99N XIRP2_ENST00000295237.9_Missense_Mutation_p.D99N|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99N|XIRP2_ENST00000420519.1_Missense_Mutation_p.D99N NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCTGAAGGAGGATTCCCTGAG 0.512000 14 36 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114198 147114198 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:147114198G>A ENST00000383075.3 - 3 641 c.129C>T c.(127-129)ttC>ttT p.F43F ZIC4_ENST00000425731.3_Silent_p.F81F|ZIC4_ENST00000484399.1_Silent_p.F43F|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Silent_p.F43F|ZIC4_ENST00000525172.2_Silent_p.F93F NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 43 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGAGGCCCGGGAACACCGAGG 0.672000 10 23 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109777952 109777952 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:109777952C>T ENST00000369923.4 + 7 879 c.868C>T c.(868-870)Ctg>Ttg p.L290L SARS_ENST00000234677.2_Silent_p.L290L P49591 SYSC_HUMAN seryl-tRNA synthetase 290 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GCCGGAGGACCTGCCCATCAA 0.577000 31 39 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821611 151821611 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151821611C>T ENST00000370306.2 + 9 1786 c.1766C>T c.(1765-1767)tCc>tTc p.S589F NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 589 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGGTGCTCCTTCACTGAA 0.542000 25 13 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798460 69798460 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69798460G>A ENST00000251566.4 - 3 912 c.882C>T c.(880-882)gtC>gtT p.V294V UGT2A3_ENST00000420231.2_Silent_p.V5V NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 294 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTGAACTCTGGACAAAATTTT 0.333000 50 71 0 0 1 0 0 NR2F2 7026 broad.mit.edu 37 15 96877367 96877367 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:96877367G>A ENST00000394166.3 + 2 1894 c.505G>A c.(505-507)Ggg>Agg p.G169R NR2F2_ENST00000453270.2_Missense_Mutation_p.G16R|NR2F2_ENST00000421109.2_Missense_Mutation_p.G36R|NR2F2_ENST00000394171.2_Missense_Mutation_p.G16R NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 169 Interaction with ZFPM2 (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding p.G169W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCTGACCAACGGGGATCCCCT 0.637000 64 133 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41791933 41791933 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41791933C>T ENST00000266304.4 + 4 997 c.881C>T c.(880-882)tCc>tTc p.S294F TEF_ENST00000406644.3_Missense_Mutation_p.S264F NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 294 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 ACCATCGTGTCCAAGTATGAG 0.642000 22 89 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084988 31084988 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:31084988C>T ENST00000376288.2 - 2 430 c.404G>A c.(403-405)gGg>gAg p.G135E PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 135 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 GCTGCTGCTCCCCAGCTGGGA 0.577000 11 40 0 0 1 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829745 106829745 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106829745C>T ENST00000390616.2 - 0 248 TTCCCCAATCCACTCCAGCCC 0.562000 24 54 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193376716 193376716 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193376716C>T ENST00000361510.2 + 24 2606 c.2372C>T c.(2371-2373)tCt>tTt p.S791F OPA1_ENST00000392438.3_Missense_Mutation_p.S736F|OPA1_ENST00000361908.3_Missense_Mutation_p.S773F|OPA1_ENST00000361150.2_Missense_Mutation_p.S737F|OPA1_ENST00000361715.2_Missense_Mutation_p.S755F|OPA1_ENST00000361828.2_Missense_Mutation_p.S754F NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 736 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CGATCCATATCTGATAAACAG 0.388000 25 49 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40251489 40251489 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40251489G>A ENST00000302541.6 + 11 2152 c.1810G>A c.(1810-1812)Gat>Aat p.D604N MYRIP_ENST00000396217.3_Missense_Mutation_p.D515N|MYRIP_ENST00000539167.1_Missense_Mutation_p.D417N|MYRIP_ENST00000425621.1_Missense_Mutation_p.D604N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.D604N NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 604 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TTCAGGGGAGGATCAGGAGTC 0.493000 12 29 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:57828183G>A ENST00000371030.2 + 4 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGGACAAACGAACTGTGAAG 0.468000 40 83 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128732767 128732767 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:128732767T>C ENST00000296464.3 + 12 1965 c.1554T>C c.(1552-1554)ttT>ttC p.F518F HSPA4L_ENST00000505726.1_Silent_p.F492F|HSPA4L_ENST00000508776.1_Silent_p.F518F|HSPA4L_ENST00000439123.2_Silent_p.F549F NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 518 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 AAACTTCATTTAAAAATGAAA 0.338000 12 21 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945537 72945537 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:72945537C>T ENST00000311131.2 + 3 800 c.333C>T c.(331-333)ttC>ttT p.F111F P2RY2_ENST00000393596.2_Silent_p.F111F|P2RY2_ENST00000393597.2_Silent_p.F111F NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 111 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) TGGTGCGCTTCCTCTTCTACA 0.622000 34 46 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928676 32928676 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:32928676C>T ENST00000361627.3 + 12 2424 c.1702C>T c.(1702-1704)Cct>Tct p.P568S ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P379S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P379S NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 568 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGAACTCACCCCTTCCAATTT 0.373000 23 31 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149517995 149517995 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:149517995C>T ENST00000378016.2 + 0 12338 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) GGCTGCGTGCCAATTGGGCAC 0.667000 17 27 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125622205 125622205 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:125622205G>A ENST00000241305.3 - 3 592 c.438C>T c.(436-438)atC>atT p.I146I CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 146 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGAAGTCTGTGATTTTTAAGG 0.498000 16 33 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940480 82940480 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:82940480C>T ENST00000274341.4 - 4 1327 c.477G>A c.(475-477)gtG>gtA p.V159V NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 159 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) AAGGGAATACCACACCTGTCC 0.512000 11 12 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52854939 52854939 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:52854939G>A ENST00000371568.3 - 7 1355 c.1137C>T c.(1135-1137)atC>atT p.I379I ORC1_ENST00000371566.1_Silent_p.I379I NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 379 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTTTCTGCGGATACGATGGG 0.488000 33 53 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534881 96534881 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534881G>A ENST00000371321.3 + 2 317 c.235G>A c.(235-237)Gga>Aga p.G79R CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 79 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.G79*(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GGTGCTGCATGGATATGAAGT 0.458000 28 71 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762104 92762104 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:92762104C>T ENST00000318238.4 - 5 4397 c.3181G>A c.(3181-3183)Gct>Act p.A1061T SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1061T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1061T NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1061 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTCTGTAAAGCTTCCATTAAT 0.383000 27 57 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101960916 101960916 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:101960916G>A ENST00000536178.1 + 9 1676 c.1631G>A c.(1630-1632)gGc>gAc p.G544D SH2B2_ENST00000306803.8_Missense_Mutation_p.G504D O14492 SH2B2_HUMAN SH2B adaptor protein 2 505 blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 GAGTCAGGGGGCTCGGCCGAC 0.612000 25 39 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832162 61832162 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:61832162G>A ENST00000280772.1 - 37 8668 c.8477C>T c.(8476-8478)tCt>tTt p.S2826F ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2826 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGCTGCTCAGAAAAAGAGTC 0.413000 26 56 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115338599 115338599 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:115338599C>T ENST00000357872.4 + 11 2012 c.1888C>T c.(1888-1890)Caa>Taa p.Q630* AQPEP_ENST00000395528.2_Nonsense_Mutation_p.Q147* NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 630 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CTGGCTAGATCAAAGCAGCAG 0.294000 11 20 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73617306 73617306 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:73617306G>A ENST00000261917.3 - 6 2961 c.1968C>T c.(1966-1968)tcC>tcT p.S656S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 656 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CTCCAAAGTAGGAGCCGTCGG 0.632000 9 16 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58619371 58619371 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58619371A>G ENST00000317147.5 - 8 1009 c.677T>C c.(676-678)cTt>cCt p.L226P CNOT1_ENST00000569240.1_Missense_Mutation_p.L226P|CNOT1_ENST00000441024.2_Missense_Mutation_p.L226P NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 226 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGGGTATAAAAGTGGTGCGAG 0.443000 17 26 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340018 100340018 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:100340018G>A ENST00000341853.1 - 0 908 NR_003260.1 AGTGCAGGTTGGACAGCAGCT 0.617000 4 8 0 0 1 0 0 MSRB1 51734 broad.mit.edu 37 16 1991306 1991306 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1991306G>A ENST00000361871.3 - 2 325 c.156C>T c.(154-156)gcC>gcT p.A52A MSRB1_ENST00000564908.1_Silent_p.A52A|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000399753.2_Silent_p.A52A NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 52 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) CCACGCTGTCGGCGTGAATGG 0.622000 26 30 0 0 1 0 0 GPR18 2841 broad.mit.edu 37 13 99907947 99907947 + Nonsense_Mutation SNP A A T rs147490848 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:99907947A>T ENST00000340807.3 - 3 736 c.180T>A c.(178-180)taT>taA p.Y60* UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Nonsense_Mutation_p.Y60*|GPR18_ENST00000397473.2_Nonsense_Mutation_p.Y60* Q14330 GPR18_HUMAN G protein-coupled receptor 18 60 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) CATTCATCATATAGATGGTTA 0.343000 16 51 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3129908 3129908 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:3129908C>T ENST00000359864.2 + 9 882 c.692C>T c.(691-693)gCc>gTc p.A231V TEAD4_ENST00000358409.2_Missense_Mutation_p.A188V|TEAD4_ENST00000397122.2_Missense_Mutation_p.A102V NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 231 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GAGTTCTCTGCCTTCCTGGAG 0.682000 23 34 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590585 86590585 + Silent SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:86590585T>G ENST00000370571.2 - 3 1800 c.1434A>C c.(1432-1434)ctA>ctC p.L478L COL24A1_ENST00000436319.1_Silent_p.L478L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 478 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GCATTGTATTTAGATCCTCAT 0.333000 19 35 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841819 8841819 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8841819G>A ENST00000324060.2 + 1 504 c.429G>A c.(427-429)ctG>ctA p.L143L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TATGTCTGCTGATGATGGGCT 0.547000 25 55 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60893271 60893271 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60893271C>T ENST00000347785.3 + 10 1614 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 483 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) GACAACTCCTCCGACAGTGAC 0.607000 13 41 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612077 20612077 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20612077C>T ENST00000333629.1 + 1 183 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CCCTCTATTTCTTTCTGGGCA 0.453000 87 148 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853624 143853624 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:143853624C>T ENST00000507359.2 + 3 2325 c.1234C>T c.(1234-1236)Cct>Tct p.P412S KCTD16_ENST00000512467.1_Missense_Mutation_p.P412S NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 412 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AGATCGGTTTCCTGAGAGAAA 0.378000 20 55 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725001 158725001 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158725001C>T ENST00000368144.2 + 1 492 c.396C>T c.(394-396)ttC>ttT p.F132F NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGTACTTTTTCCACTCACTTG 0.493000 16 38 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768656 150768656 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150768656G>A ENST00000485713.1 + 14 3195 c.2155G>A c.(2155-2157)Gcc>Acc p.A719T SLC4A2_ENST00000310317.5_Missense_Mutation_p.A637T|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A705T|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A719T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A710T NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 719 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTACTTTGCCGCCCTGTCTCC 0.642000 14 45 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398153 77398153 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77398153C>T ENST00000282849.5 - 5 1322 c.904G>A c.(904-906)Gac>Aac p.D302N NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 302 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATTTTCTTGTCTGCCACCACG 0.478000 38 50 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505242 70505242 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:70505242A>G ENST00000310961.5 + 22 4054 c.3636A>G c.(3634-3636)acA>acG p.T1212T LRRC7_ENST00000415775.2_Silent_p.T491T|LRRC7_ENST00000035383.5_Silent_p.T1207T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1207 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCTACAGTACAGAGAGTTACG 0.458000 11 13 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120509467 120509467 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120509467C>T ENST00000397558.2 + 5 951 c.951C>T c.(949-951)tcC>tcT p.S317S CCDC64_ENST00000446727.2_Silent_p.S61S NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 317 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCGTCTCTCCTGCCGACAGC 0.527000 18 29 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50339806 50339806 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50339806C>T ENST00000376020.2 - 9 4396 c.4371G>A c.(4369-4371)atG>atA p.M1457I SHROOM4_ENST00000289292.7_Missense_Mutation_p.M1457I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M1341I NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1457 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GAGCAGATTTCATCTTGACAA 0.542000 12 5 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80511759 80511759 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:80511759G>A ENST00000265080.4 + 24 3486 c.3419G>A c.(3418-3420)aGa>aAa p.R1140K CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1140 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAAATCTTAGAGAAACCCTT 0.259000 6 27 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548916 7548916 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7548916C>T ENST00000313599.3 - 8 1882 c.1825G>A c.(1825-1827)Gat>Aat p.D609N CD163L1_ENST00000396630.1_Missense_Mutation_p.D609N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D619N Q9NR16 C163B_HUMAN CD163 molecule-like 1 609 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAGCCGTCATCACACACTGTG 0.572000 12 25 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127563717 127563717 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:127563717G>A ENST00000373580.3 + 5 694 c.694G>A c.(694-696)Gac>Aac p.D232N OLFML2A_ENST00000288815.5_Missense_Mutation_p.D18N NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 232 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 AAAAGGCAAGGACATCAGCAA 0.517000 22 52 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957612 50957612 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50957612G>A ENST00000357701.5 + 18 2051 c.2000G>A c.(1999-2001)gGg>gAg p.G667E NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 667 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TACGATGGGGGGAAGCCAGTC 0.537000 18 45 0 0 1 0 0 SNRPA1 6627 broad.mit.edu 37 15 101825959 101825959 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101825959G>A ENST00000254193.6 - 7 659 c.587C>T c.(586-588)cCa>cTa p.P196L NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 196 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTGGAGATGGCCCACCTTT 0.428000 29 50 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322726 55322726 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55322726C>T ENST00000314644.2 + 1 944 c.944C>T c.(943-945)cCa>cTa p.P315L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ACACGACCTCCATCTGCTTTT 0.393000 HNSCC(20;0.049) 48 104 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928639 10928639 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:10928639C>T ENST00000283141.6 + 18 1740 c.1444C>T c.(1444-1446)Cag>Tag p.Q482* SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 482 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) gccatagcttcagccggtccc 0.448000 25 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466502 179466502 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179466502C>T ENST00000589042.1 - 286 55539 c.55315G>A c.(55315-55317)Gaa>Aaa p.E18439K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9374K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16798K|TTN_ENST00000342992.6_Missense_Mutation_p.E15871K|TTN_ENST00000342175.6_Missense_Mutation_p.E9566K|TTN_ENST00000359218.5_Missense_Mutation_p.E9499K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16798 Ig-like 106. 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) GAGGAGTTTTCAGCAGTCTCC 0.328000 22 49 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513417 76513417 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:76513417C>T ENST00000307431.8 + 13 2246 c.1861C>T c.(1861-1863)Cta>Tta p.L621L CNTNAP4_ENST00000476707.1_Silent_p.L625L|CNTNAP4_ENST00000478060.1_Silent_p.L549L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L573L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 622 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACCATTTCTTCTATATTGCAA 0.338000 23 59 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164029 139164029 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:139164029G>A ENST00000395297.1 - 13 2859 c.2689C>T c.(2689-2691)Cat>Tat p.H897Y NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 897 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTGCTCTATGAAGAGATCTG 0.473000 HNSCC(54;0.14) 85 26 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36315815 36315815 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36315815C>T ENST00000373210.3 + 16 2478 c.2233C>T c.(2233-2235)Cca>Tca p.P745S AGO4_ENST00000488778.1_3'UTR NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 CATCACACATCCATCTGAGTT 0.388000 58 83 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844280 5844280 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:5844280C>T ENST00000303225.6 - 3 1205 c.571G>A c.(571-573)Gag>Aag p.E191K FUT3_ENST00000589620.1_Missense_Mutation_p.E191K|FUT3_ENST00000589918.1_Missense_Mutation_p.E191K|FUT3_ENST00000458379.2_Missense_Mutation_p.E191K NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 191 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GCCACCAGCTCGGTCTTGGCC 0.667000 10 27 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245276 46245276 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:46245276C>T ENST00000296140.3 - 2 654 c.529G>A c.(529-531)Gaa>Aaa p.E177K CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 177 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGAGTGAATTCCCATTGGGTC 0.512000 16 50 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921780 78921780 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78921780G>A ENST00000261751.3 - 5 978 c.867C>T c.(865-867)tcC>tcT p.S289S CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 289 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GCACATCGAGGGAGGTGGGTG 0.567000 22 40 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825340 4825340 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4825340G>A ENST00000380382.1 - 1 507 c.508C>T c.(508-510)Cat>Tat p.H170Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H91Y Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCATGAGCATGAAACCAGAAT 0.527000 27 60 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187696 152187696 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152187696C>T ENST00000368801.2 - 3 6484 c.6409G>A c.(6409-6411)Ggc>Agc p.G2137S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2137 keratinization calcium ion binding|protein binding p.G2137C(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCTAGAGCCGTGTTGTCCG 0.562000 49 1351 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357741 46357741 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:46357741G>A ENST00000400405.2 - 2 693 c.587C>T c.(586-588)gCc>gTc p.A196V NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 196 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GAAGCAGTCGGCCTGGGTGGG 0.592000 10 12 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37105146 37105146 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:37105146G>A ENST00000263918.4 - 10 1219 c.1211C>T c.(1210-1212)tCt>tTt p.S404F STRN_ENST00000379213.2_Missense_Mutation_p.S355F NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 404 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTTCCAGAAGAAGGAGGAAA 0.433000 48 115 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300864 18300864 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:18300864G>A ENST00000441493.2 - 26 4915 c.4563C>T c.(4561-4563)ccC>ccT p.P1521P NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1521 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CATCAGCAAAGGGAATCTCCT 0.642000 4 20 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573340 105573340 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:105573340C>T ENST00000314641.5 - 4 681 c.465G>A c.(463-465)ttG>ttA p.L155L BVES_ENST00000336775.5_Silent_p.L155L|BVES_ENST00000446408.2_Silent_p.L155L NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 155 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GGCCCTTTTTCAAGGTTTGGA 0.433000 56 45 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510382 71510382 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71510382G>A ENST00000396073.3 + 9 3520 c.3239G>A c.(3238-3240)aGc>aAc p.S1080N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1080 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGAAGGCAAAGCCCATTTGAT 0.423000 30 57 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1231121 1231121 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:1231121G>A ENST00000354700.5 - 18 1902 c.1700C>T c.(1699-1701)tCc>tTc p.S567F ACAP3_ENST00000353662.3_Missense_Mutation_p.S525F NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 567 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 CCCACCTGAGGACAGAGCGGC 0.716000 6 8 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76201782 76201782 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76201782C>T ENST00000409257.5 + 9 797 c.743C>T c.(742-744)tCc>tTc p.S248F AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.S248F|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 248 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CAGTTCGACTCCCCCGAATTC 0.607000 19 34 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71305235 71305235 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:71305235C>T ENST00000260382.5 + 14 1946 c.1686C>T c.(1684-1686)tcC>tcT p.S562S LRRC49_ENST00000443425.2_Silent_p.S518S|LRRC49_ENST00000560369.1_Silent_p.S567S|LRRC49_ENST00000544974.2_Silent_p.S552S|LRRC49_ENST00000560158.2_Silent_p.S250S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Silent_p.S268S NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 562 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GTCTGATTTCCATTCTGGGTG 0.373000 34 67 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767811 77767811 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:77767811G>A ENST00000521891.2 + 10 9102 c.8654G>A c.(8653-8655)aGc>aAc p.S2885N ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2840N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2840N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2859N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2840 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACGACCAAAGCTTTTACATC 0.527000 HNSCC(33;0.089) 10 22 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37145561 37145561 + Missense_Mutation SNP G G T rs116602527 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:37145561G>T ENST00000361487.6 + 4 1155 c.930G>T c.(928-930)ttG>ttT p.L310F PAX9_ENST00000402703.2_Missense_Mutation_p.L310F|PAX9_ENST00000554201.1_3'UTR P55771 PAX9_HUMAN paired box 9 310 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GCACCTCATTGTCTCCCCACA 0.572000 64 103 7.31121e-38 7.45637e-38 1 1 0 APC2 10297 broad.mit.edu 37 19 1461050 1461050 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:1461050C>T ENST00000535453.1 + 12 3249 c.1536C>T c.(1534-1536)atC>atT p.I512I APC2_ENST00000238483.4_Silent_p.I238I|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.I512I O95996 APC2_HUMAN adenomatosis polyposis coli 2 512 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTCCAGCATCCTTCGGAACT 0.637000 64 77 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229527 7229527 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7229527C>T ENST00000379938.2 + 10 1732 c.1195C>T c.(1195-1197)Cag>Tag p.Q399* RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q399* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 399 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACTCAAGTGTCAGCTACCTCA 0.617000 44 19 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368697 22368697 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:22368697G>A ENST00000332663.2 + 1 220 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTACCAGGAAATATCCTT 0.413000 92 412 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62041996 62041996 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:62041996C>T ENST00000578147.1 - 9 1360 c.1284G>A c.(1282-1284)gtG>gtA p.V428V SCN4A_ENST00000435607.1_Silent_p.V428V P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 428 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGATGATGACCACGAAGAAGA 0.577000 7 9 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79402010 79402010 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:79402010G>A ENST00000370742.3 - 7 910 c.847C>T c.(847-849)Cca>Tca p.P283S NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 283 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTTCTCTTTGGAAATATATTT 0.274000 39 84 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28407958 28407958 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28407958G>A ENST00000394835.3 + 17 3577 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E1005K NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1129 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGATCCCCACGAAATAAACAT 0.403000 18 34 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770602 152770602 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152770602G>A ENST00000326233.6 + 2 375 c.332G>A c.(331-333)gGa>gAa p.G111E NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 111 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCACTCTGGAGGCTGCTGC 0.612000 28 75 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42235978 42235978 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:42235978G>A ENST00000541110.1 - 5 1919 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C TRERF1_ENST00000372917.4_Missense_Mutation_p.R451C|TRERF1_ENST00000340840.2_Missense_Mutation_p.R451C|TRERF1_ENST00000354325.2_Missense_Mutation_p.R451C|TRERF1_ENST00000372922.4_Missense_Mutation_p.R451C Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 451 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGGAGGGGGCGATGGGGGAGG 0.637000 54 72 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106821067 106821067 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:106821067C>T ENST00000228347.4 + 13 1416 c.1194C>T c.(1192-1194)gcC>gcT p.A398A POLR3B_ENST00000539066.1_Silent_p.A340A NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 398 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 AAAGAGCAGCCCAGTTTGATG 0.373000 35 57 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752115 62752115 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62752115G>A ENST00000377871.3 - 1 314 c.48C>T c.(46-48)ttC>ttT p.F16F SLC22A6_ENST00000421062.2_Silent_p.F16F|SLC22A6_ENST00000458333.2_Silent_p.F16F|SLC22A6_ENST00000360421.4_Silent_p.F16F NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 16 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGATCTGCTGGAAGCGGCCGA 0.647000 4 10 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011861 46011861 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:46011861A>G ENST00000400368.1 - 1 525 c.505T>C c.(505-507)Tcc>Ccc p.S169P TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 169 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CACGAAGAGGAAATCCCAGAG 0.642000 62 58 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835429 38835429 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38835429C>T ENST00000449082.2 - 1 72 c.73G>A c.(73-75)Gag>Aag p.E25K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 25 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATTTGCTTCTCTATCTCCACC 0.483000 40 82 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760578 176760578 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:176760578G>A ENST00000367662.3 + 19 6144 c.4980G>A c.(4978-4980)ctG>ctA p.L1660L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1660 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTCAGAGCTGAATTCTGTGG 0.443000 34 51 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247208 10247208 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10247208G>A ENST00000418404.3 - 15 1966 c.1803C>T c.(1801-1803)gaC>gaT p.D601D MYH13_ENST00000570743.1_Silent_p.D601D|MYH13_ENST00000252172.4_Silent_p.D601D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 601 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGTTCAGGGGGTCCTTGTTTT 0.547000 26 37 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842262 123842262 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:123842262G>A ENST00000369005.1 + 4 587 c.247G>A c.(247-249)Gac>Aac p.D83N TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D83N|TACC2_ENST00000515603.1_Missense_Mutation_p.D83N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.D83N|TACC2_ENST00000453444.2_Missense_Mutation_p.D83N NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 83 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCAAGGAAGGACCCACAGGG 0.632000 23 45 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4802926 4802926 + Silent SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4802926G>T ENST00000219478.6 - 6 1193 c.894C>A c.(892-894)gtC>gtA p.V298V ZNF500_ENST00000545009.1_Silent_p.V298V|ZNF500_ENST00000591026.1_5'UTR O60304 ZN500_HUMAN zinc finger protein 500 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 CCAAGCCCCTGACTGGGGCTG 0.672000 15 32 7.07596e-05 7.10294e-05 1 1 0 C9 735 broad.mit.edu 37 5 39288904 39288904 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:39288904C>T ENST00000263408.4 - 10 1661 c.1566G>A c.(1564-1566)atG>atA p.M522I NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 522 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACTTTCCATCCATTAGAATCA 0.353000 45 75 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789947 133789947 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:133789947G>A ENST00000321016.8 - 18 3903 c.3673C>T c.(3673-3675)Cgc>Tgc p.R1225C IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225C Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1225 Pro-rich. 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) AGGCCCGGGCGAGGCCGGGCA 0.677000 9 22 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596163 161596163 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:161596163C>T ENST00000294800.3 - 4 622 c.349G>A c.(349-351)Gtg>Atg p.V117M FCGR3B_ENST00000367964.2_Missense_Mutation_p.V117M|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V153M|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 117 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCTTGAACACCCACCGAGGG 0.552000 9 2 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13922323 13922323 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13922323C>T ENST00000265104.4 - 5 657 c.553G>A c.(553-555)Gag>Aag p.E185K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 185 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCTCGAGCTCGCCCCAGCCA 0.572000 Kartagener syndrome 15 33 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230898459 230898459 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:230898459G>A ENST00000354537.1 + 4 545 c.463G>A c.(463-465)Gac>Aac p.D155N CAPN9_ENST00000366666.2_Missense_Mutation_p.D92N|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.D155N NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 155 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CACCTTCAGGGACCGCTTGGT 0.572000 20 20 0 0 1 0 0 HMGN3 9324 broad.mit.edu 37 6 79912032 79912032 + Splice_Site SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:79912032A>G ENST00000275036.7 - 5 349 c.e5+1 HMGN3_ENST00000344726.5_Silent_p.G74G NM_138730.2 NP_620058.1 Q15651 HMGN3_HUMAN high mobility group nucleosomal binding domain 3 chromatin modification chromatin|cytoplasm|nucleus DNA binding|thyroid hormone receptor binding central_nervous_system(1)|kidney(2)|lung(1) 4 all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393) BRCA - Breast invasive adenocarcinoma(397;0.125) ATGGTGCAGTACCTTCCTTTC 0.413000 54 39 0 0 1 0 0 LIPK 643414 broad.mit.edu 37 10 90499756 90499756 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:90499756C>T ENST00000404190.1 + 7 820 c.820C>T c.(820-822)Cgc>Tgc p.R274C NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 274 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TTTGCAGAGTCGCTTGGATGT 0.388000 18 25 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012767 29012767 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29012767G>A ENST00000377175.1 - 1 250 c.186C>T c.(184-186)ttC>ttT p.F62F NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AATTTCTGAGGAAAAAGTACA 0.433000 66 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068444 9068444 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9068444G>A ENST00000397910.4 - 3 19205 c.19002C>T c.(19000-19002)atC>atT p.I6334I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6336 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 AGGTGGAAGTGATAACTACTG 0.453000 13 42 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147718 21147718 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21147718G>A ENST00000261383.3 - 6 812 c.813C>T c.(811-813)ttC>ttT p.F271F DNAH3_ENST00000415178.1_Silent_p.F271F NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 271 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGGGCTCCAGGAAGGGACTCG 0.512000 39 84 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517793 176517793 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176517793G>A ENST00000292408.4 + 4 648 c.403G>A c.(403-405)Gac>Aac p.D135N FGFR4_ENST00000502906.1_Missense_Mutation_p.D135N|FGFR4_ENST00000393648.2_Missense_Mutation_p.D135N|FGFR4_ENST00000393637.1_Missense_Mutation_p.D135N|FGFR4_ENST00000292410.3_Missense_Mutation_p.D135N NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 135 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity p.D135N(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GTCCCATAGGGACCCCTCGAA 0.562000 TSP Lung(9;0.080) 16 40 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75086573 75086573 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75086573G>A ENST00000326665.5 - 8 1063 c.845C>T c.(844-846)tCc>tTc p.S282F C1orf173_ENST00000420661.2_Missense_Mutation_p.S85F|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 282 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACTATGTAAGGATGTTTTATG 0.323000 9 18 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306845 54306845 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54306845C>T ENST00000545554.1 + 1 1745 c.1745C>T c.(1744-1746)tCg>tTg p.S582L UNC13C_ENST00000537900.1_Missense_Mutation_p.S582L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S582L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 582 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGTCATCTTCGGACCGGGAG 0.448000 9 20 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100463110 100463110 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100463110G>A ENST00000326581.4 + 9 1286 c.924G>A c.(922-924)atG>atA p.M308I NM_032149.2 NP_115525.2 Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 308 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) GAAATAATATGAAAATACCTG 0.388000 4 32 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559726 20559726 + Missense_Mutation SNP C C T rs138313532 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20559726C>T ENST00000329697.6 - 7 1132 c.964G>A c.(964-966)Gat>Aat p.D322N ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 322 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGGAAAGATCCTGCTGTAGC 0.493000 33 59 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129244015 129244015 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:129244015C>T ENST00000305031.4 + 2 1406 c.1048C>T c.(1048-1050)Cgc>Tgc p.R350C CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 350 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AAGATGCGTTCGCCGTTTTGG 0.438000 22 37 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642978 1642978 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:1642978C>T ENST00000399682.1 - 1 390 c.346G>A c.(346-348)Ggt>Agt p.G116S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 116 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCTTGGAACCCCCACAGGAG 0.662000 26 68 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6623341 6623341 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:6623341G>A ENST00000264670.6 - 5 834 c.523C>T c.(523-525)Cgg>Tgg p.R175W NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R140W|NSUN2_ENST00000505264.1_5'UTR NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 175 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TGATGAGGCCGCACGTTGAGG 0.408000 3 81 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76757090 76757090 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:76757090C>T ENST00000536229.3 + 3 3765 c.3056C>T c.(3055-3057)gCc>gTc p.A1019V SALL3_ENST00000537592.2_Missense_Mutation_p.A1224V|SALL3_ENST00000575389.2_Missense_Mutation_p.A1152V Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AACGGGCTCGCCATGAAGAAC 0.597000 90 72 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230548 29230548 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29230548G>A ENST00000441381.1 + 0 79 CCCTCATCCTGAGATGGACTG 0.428000 18 69 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8145963 8145963 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8145963G>A ENST00000600128.1 - 59 7791 c.7377C>T c.(7375-7377)ttC>ttT p.F2459F FBN3_ENST00000601739.1_Silent_p.F2459F|FBN3_ENST00000270509.2_Silent_p.F2459F Q75N90 FBN3_HUMAN fibrillin 3 2459 EGF-like 40; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGACACAGAGGAACTGACAGT 0.657000 14 39 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55109502 55109502 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:55109502G>A ENST00000505374.1 + 19 1709 c.1615_splice c.e19-1 p.G539_splice DDX4_ENST00000354991.5_Splice_Site_p.G505_splice|DDX4_ENST00000511853.1_Splice_Site_p.G390_splice|DDX4_ENST00000514278.2_Splice_Site_p.G519_splice|DDX4_ENST00000353507.5_Splice_Site_p.G505_splice NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 539 Helicase C-terminal. 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) GTCTTGTAGGGGATGAAAGAA 0.308000 31 69 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131030734 131030734 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:131030734G>A ENST00000421699.2 - 3 289 c.277C>T c.(277-279)Cct>Tct p.P93S NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 93 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CTGGCACCAGGGGAAGGGACA 0.562000 14 24 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997664 118997664 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:118997664C>T ENST00000328252.3 + 7 2849 c.2480C>T c.(2479-2481)tCc>tTc p.S827F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 827 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAGAACATCTCCCTGGGTCCT 0.522000 9 23 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52531719 52531719 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:52531719T>G ENST00000242839.4 - 9 2536 c.2380A>C c.(2380-2382)Aaa>Caa p.K794Q ATP7B_ENST00000418097.2_Missense_Mutation_p.K794Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.K632Q|ATP7B_ENST00000417240.2_Missense_Mutation_p.K66Q|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.K683Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.K716Q NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 794 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GACATGAGTTTAGCCAGGGCT 0.463000 Wilson disease 25 51 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52827874 52827874 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:52827874G>A ENST00000252245.5 - 1 435 c.215C>T c.(214-216)tCc>tTc p.S72F NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 72 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CCCATTGATGGAGACCCGCTT 0.622000 26 47 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3557238 3557238 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:3557238G>A ENST00000355415.2 - 1 333 c.164C>T c.(163-165)tCc>tTc p.S55F MFSD12_ENST00000398558.4_Missense_Mutation_p.S55F|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_Missense_Mutation_p.S55F|AC005786.7_ENST00000589360.1_RNA NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 55 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CGCGCCGCGGGAGCTGTAGGC 0.716000 4 11 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70512721 70512721 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70512721C>T ENST00000381269.2 - 8 3480 c.2727G>A c.(2725-2727)tgG>tgA p.W909* SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.W903*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.W266*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.W906*|SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.W280*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.W907*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.W907* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 909 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGTAGAGGAGCCACAGGCTCA 0.592000 OREG0022773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 11 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52988355 52988355 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52988355A>G ENST00000394752.3 - 3 483 c.101T>C c.(100-102)gTt>gCt p.V34A SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000296295.6_Missense_Mutation_p.V34A|SFMBT1_ENST00000358080.2_Missense_Mutation_p.V34A|SFMBT1_ENST00000394750.1_Missense_Mutation_p.V34A NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 34 Antigenic epitope. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CCCATAGGGAACTGCTGTGGA 0.348000 32 76 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118968536 118968536 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:118968536C>T ENST00000515256.1 + 2 336 c.164C>T c.(163-165)tCc>tTc p.S55F A1A519 F170A_HUMAN family with sequence similarity 170, member A 55 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 ACTTCTACCTCCGAATACTGC 0.552000 52 22 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562252 145562252 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:145562252C>T ENST00000355594.4 + 10 2027 c.1940C>T c.(1939-1941)tCc>tTc p.S647F NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 647 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGCTACAGTCCCTGAGCCAG 0.592000 21 38 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699150 49699150 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:49699150C>T ENST00000303221.5 - 6 954 c.739G>A c.(739-741)Gaa>Aaa p.E247K EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.E193K|EMB_ENST00000514111.1_Missense_Mutation_p.E197K NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 247 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) ATGTGTTCTTCACTCTCGCCT 0.443000 22 55 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319015 123319015 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:123319015C>T ENST00000275162.4 + 2 1428 c.93C>T c.(91-93)atC>atT p.I31I CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 31 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACCAGGACATCCAGGAGGTGA 0.547000 15 16 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35524582 35524582 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35524582C>T ENST00000262631.5 + 3 524 c.387C>T c.(385-387)ttC>ttT p.F129F SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Silent_p.F129F NM_001037.4 NP_001028.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 129 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGCTCTTCTTCGAAAACTACG 0.552000 40 52 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32091181 32091181 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:32091181G>A ENST00000438447.1 + 20 8015 c.7627G>A c.(7627-7629)Gga>Aga p.G2543R PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543R O15018 PDZD2_HUMAN PDZ domain containing 2 2543 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 CTGTCCAGGAGGAAGTGGCCC 0.577000 20 28 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159857785 159857785 + Missense_Mutation SNP C C T rs140567807 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:159857785C>T ENST00000426543.2 - 5 634 c.179G>A c.(178-180)cGa>cAa p.R60Q CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R145Q Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 145 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GATCTTCTTTCGTGTCATCAC 0.552000 32 56 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111417562 111417562 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:111417562G>A ENST00000535254.1 - 10 1276 c.1209C>T c.(1207-1209)atC>atT p.I403I BUB1_ENST00000409311.1_Silent_p.I423I|BUB1_ENST00000302759.6_Silent_p.I423I NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 423 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TACCTTCTTTGATCTCTGCTC 0.378000 20 37 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4609094 4609094 + Silent SNP G G A rs139603676 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4609094G>A ENST00000312614.4 + 1 1074 c.1052G>A c.(1051-1053)tGa>tAa p.*351* NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGTTCATGAACACAATAT 0.423000 44 85 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46600951 46600951 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46600951C>T ENST00000398637.5 - 8 1244 c.550G>A c.(550-552)Gaa>Aaa p.E184K SLC38A1_ENST00000549049.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E184K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E184K NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 184 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AATGTCTCTTCCTTTCCCATT 0.303000 11 31 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45846987 45846987 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:45846987T>C ENST00000397928.1 + 27 4412 c.3967T>C c.(3967-3969)Ttg>Ctg p.L1323L TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.L1373L|TRPM2_ENST00000300482.5_Silent_p.L1323L NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1323 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCAGGCCGGGTTGCCCCTGTG 0.652000 4 2 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469216 10469216 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:10469216C>T ENST00000382483.3 - 4 2615 c.2392G>A c.(2392-2394)Gac>Aac p.D798N NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 798 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) TGAGGCGTGTCCCTGGCCTCT 0.682000 29 15 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65108936 65108936 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65108936G>A ENST00000268043.4 - 12 1797 c.1703C>T c.(1702-1704)tCt>tTt p.S568F PIF1_ENST00000559239.1_Missense_Mutation_p.S568F|PIF1_ENST00000333425.6_Missense_Mutation_p.S568F Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 568 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 ACGGCCCAGAGAAATCTCCAC 0.607000 16 36 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80730314 80730314 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:80730314C>T ENST00000458043.2 + 39 4701 c.4695C>T c.(4693-4695)atC>atT p.I1565I OTOGL_ENST00000547103.1_Silent_p.I1553I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGCTCATATCGAAAAATGTT 0.328000 10 20 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9345244 9345244 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:9345244G>A ENST00000261336.2 - 12 1374 c.1346C>T c.(1345-1347)tCc>tTc p.S449F PZP_ENST00000381997.2_Missense_Mutation_p.S318F NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCACTTAAGGAGAAAACACG 0.498000 23 35 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2759288 2759288 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:2759288G>A ENST00000221566.2 - 9 865 c.704C>T c.(703-705)tCg>tTg p.S235L NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 235 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATTAGGTTCGAAGCCTGAAG 0.428000 46 72 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809359 48809359 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:48809359C>T ENST00000309835.3 + 1 1597 c.1587C>T c.(1585-1587)tcC>tcT p.S529S STON1_ENST00000406226.1_Silent_p.S529S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S529S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S529S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S529S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S529S|STON1_ENST00000404752.1_Silent_p.S529S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S529S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCCCTTTTCCTTGAAGTCTG 0.453000 29 56 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78473204 78473204 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78473204G>A ENST00000258873.4 - 9 1351 c.1146C>T c.(1144-1146)atC>atT p.I382I ACSBG1_ENST00000541759.1_Silent_p.I140I|ACSBG1_ENST00000560817.1_Silent_p.I140I NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 382 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TGCGCTCCATGATCTTCTCCC 0.627000 33 62 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741521 81741521 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81741521C>T ENST00000550584.2 - 17 2318 c.2023G>A c.(2023-2025)Gag>Aag p.E675K PPFIA2_ENST00000548586.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E522K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E242K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E657K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E601K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E576K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E675K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E657K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 601 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GCACGCAACTCTGTAGATTCT 0.398000 26 33 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446988 10446988 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:10446988G>A ENST00000326756.3 - 3 1403 c.965C>T c.(964-966)cCt>cTt p.P322L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 322 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 TGGCTGAACAGGTTCTTTTGC 0.413000 27 54 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227540 56227540 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:56227540C>T ENST00000341744.3 - 4 752 c.433G>A c.(433-435)Gac>Aac p.D145N PMEPA1_ENST00000395816.3_Missense_Mutation_p.D95N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.D95N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.D110N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.D95N NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 145 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGTGGCAGGTCGATCTCGTGC 0.711000 4 8 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506484 20506484 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:20506484C>T ENST00000377252.3 + 11 2093 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P369S NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 418 Thr-rich. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TTCTCAGTTTCCCACCAGCCT 0.438000 14 30 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847415 7847415 + Nonsense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:7847415A>C ENST00000328375.1 - 1 104 c.105T>G c.(103-105)taT>taG p.Y35* RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGTGACAACATAAATTCCTA 0.373000 15 55 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127753391 127753391 + Silent SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:127753391G>C ENST00000368679.4 - 14 1911 c.1602C>G c.(1600-1602)gtC>gtG p.V534V ADAM12_ENST00000368676.4_Silent_p.V534V|ADAM12_ENST00000467145.1_5'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 534 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCCAGAGCGTGACACACTGCT 0.607000 4 13 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933302 43933302 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:43933302G>A ENST00000537548.1 - 4 453 c.209C>T c.(208-210)gCc>gTc p.A70V MATN4_ENST00000360607.5_Missense_Mutation_p.A70V|MATN4_ENST00000353917.5_Missense_Mutation_p.A70V|MATN4_ENST00000372756.1_Missense_Mutation_p.A70V|MATN4_ENST00000342716.4_Missense_Mutation_p.A70V|MATN4_ENST00000372754.1_Missense_Mutation_p.A70V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron O95460 MATN4_HUMAN matrilin 4 70 VWFA 1. extracellular region protein binding p.N69fs*3(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AACGCGCGTGGCGTTGGGACC 0.642000 10 19 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129682000 129682000 + Silent SNP G G A rs145523376 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:129682000G>A ENST00000368671.3 - 2 531 c.369C>T c.(367-369)ttC>ttT p.F123F NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 123 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) TCGGCCCCAGGAATGTCTGGT 0.567000 27 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056341 9056341 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9056341T>G ENST00000397910.4 - 3 31308 c.31105A>C c.(31105-31107)Agc>Cgc p.S10369R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10371 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 GTAGTGCTGCTCTCTGTCCCA 0.483000 23 40 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17110191 17110191 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:17110191C>T ENST00000377833.4 - 21 2945 c.2880G>A c.(2878-2880)tgG>tgA p.W960* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 960 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTAATATATGCCAAGTACAGT 0.383000 41 83 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68197143 68197143 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:68197143C>T ENST00000294304.7 + 17 3844 c.3738C>T c.(3736-3738)ctC>ctT p.L1246L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1246 EGF-like 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCTCGTGCTCCTGCAGAACC 0.602000 40 65 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100504728 100504728 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100504728C>T ENST00000422897.2 + 3 533 c.447C>T c.(445-447)tcC>tcT p.S149S MTTP_ENST00000511045.1_Intron|MTTP_ENST00000457717.1_Intron|MTTP_ENST00000265517.5_Intron P55157 MTP_HUMAN microsomal triglyceride transfer protein 0 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATTTTTCTTCCCTTCAGTAGA 0.343000 6 12 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255111 15255111 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:15255111C>T ENST00000378116.4 - 8 2482 c.2476G>A c.(2476-2478)Ggc>Agc p.G826S NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 826 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCAGCTGGCCACCACTTCTC 0.647000 18 39 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221559 47221559 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:47221559C>T ENST00000319190.5 + 7 1275 c.907C>T c.(907-909)Ccc>Tcc p.P303S TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.P269S|TTC7A_ENST00000394850.2_Missense_Mutation_p.P303S|TTC7A_ENST00000263737.6_Intron NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 303 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CTACTGGAGCCCCCTGTCCCA 0.607000 43 59 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67225861 67225861 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67225861G>A ENST00000438189.2 + 6 700 c.356G>A c.(355-357)gGa>gAa p.G119E CABP4_ENST00000325656.5_Missense_Mutation_p.G224E P57796 CABP4_HUMAN calcium binding protein 4 224 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GACAGGGATGGACGAATTACG 0.602000 17 50 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48407424 48407424 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:48407424G>A ENST00000435803.1 + 32 10746 c.10722G>A c.(10720-10722)ctG>ctA p.L3574L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3574 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTTTCCACTGATAATGATGC 0.398000 2 1 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047148 9047148 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9047148G>A ENST00000397910.4 - 5 34686 c.34483C>T c.(34483-34485)Cct>Tct p.P11495S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11497 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 GTCTCTGCAGGATGAATGAGC 0.512000 35 66 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44840909 44840909 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:44840909G>A ENST00000270162.6 - 7 861 c.729C>T c.(727-729)atC>atT p.I243I NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 243 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TGAAGAAGGGGATGCGGAAGC 0.632000 6 11 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904243 12904243 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:12904243T>C ENST00000380659.3 + 3 755 c.616T>C c.(616-618)Tta>Cta p.L206L NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 206 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTTGACAAAGTTAAAAGTGCT 0.358000 18 10 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121976282 121976282 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:121976282G>A ENST00000265922.3 - 6 1298 c.837C>T c.(835-837)ccC>ccT p.P279P DBC1_ENST00000373964.2_Silent_p.P279P NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 279 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TGTCCGTGATGGGGCAGTTGC 0.547000 26 62 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56935700 56935700 + Nonsense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56935700C>G ENST00000333201.9 + 5 1883 c.1673C>G c.(1672-1674)tCa>tGa p.S558* ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.S558* NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ccctccacatcaaatcagttg 0.438000 4 8 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403374 179403374 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179403374C>T ENST00000589042.1 - 354 99406 c.99182G>A c.(99181-99183)gGa>gAa p.G33061E TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23996E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G31420E|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30493E|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24188E|TTN_ENST00000359218.5_Missense_Mutation_p.G24121E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31420 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G23996E(1)|p.G24121E(1)|p.G30491E(1)|p.G24188E(1) 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) CAGCAAACCTCCTATTGTGAA 0.418000 73 102 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348560 10348560 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10348560G>A ENST00000255381.2 - 36 5399 c.5289C>T c.(5287-5289)atC>atT p.I1763I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1763 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTACATCAGTGATGGCCTTCT 0.448000 48 80 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047352 9047352 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9047352C>T ENST00000397910.4 - 5 34482 c.34279G>A c.(34279-34281)Ggt>Agt p.G11427S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11429 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 TCTGGCTCACCAGAAGAAAGA 0.458000 26 61 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901421 160901421 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:160901421C>T ENST00000283243.7 - 2 563 c.357G>A c.(355-357)agG>agA p.R119R PLA2R1_ENST00000392771.1_Silent_p.R119R NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 119 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TGATCATCTTCCTGTTACAGC 0.522000 26 59 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63965651 63965651 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:63965651C>T ENST00000398590.3 + 6 1113 c.560C>T c.(559-561)tCc>tTc p.S187F ATXN7_ENST00000295900.6_Missense_Mutation_p.S187F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S187F|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000487717.1_Missense_Mutation_p.S187F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S42F NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 187 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCAGTATTTTCCTTCTTCCCT 0.458000 20 40 0 0 1 0 0 TRAV40 28641 broad.mit.edu 37 14 22783200 22783200 + RNA SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22783200T>A ENST00000390467.3 + 0 166 GTATGTGGAATACCCCAGCAA 0.478000 29 47 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40757307 40757307 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:40757307A>G ENST00000298910.7 + 48 7190 c.7132A>G c.(7132-7134)Aag>Gag p.K2378E NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2378 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGTGTGGGATAAGAAAACTGA 0.363000 16 29 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519565 113519565 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:113519565C>T ENST00000284601.3 - 4 1650 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 528 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTTGTTTTTCATTAACACCT 0.348000 9 6 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100020194 100020194 + Nonsense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:100020194C>A ENST00000258428.3 - 19 3358 c.3130G>T c.(3130-3132)Gag>Tag p.E1044* REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Nonsense_Mutation_p.E1043* NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1044 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGCTGTTCTCGCCCTGCCTT 0.498000 Direct reversal of damage 44 69 1.61742e-36 1.64873e-36 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24885848 24885848 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:24885848C>T ENST00000382554.3 + 9 5211 c.4893C>T c.(4891-4893)ggC>ggT p.G1631G NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1631 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTGAGGAGGGCCATAAGCATG 0.597000 19 25 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35873648 35873648 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:35873648G>A ENST00000303115.3 + 5 733 c.604G>A c.(604-606)Gag>Aag p.E202K IL7R_ENST00000506850.1_Missense_Mutation_p.E202K|IL7R_ENST00000343305.4_Missense_Mutation_p.E202K NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 202 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.E202K(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGCAATGTATGAGATTAAAGT 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 20 27 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935454 30935454 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:30935454G>A ENST00000355537.3 + 2 1132 c.985G>A c.(985-987)Gcc>Acc p.A329T NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCCGAGTCGGCCCAGGGCCA 0.657000 50 73 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975956 20975956 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20975956G>A ENST00000261383.3 - 53 9249 c.9250C>T c.(9250-9252)Cct>Tct p.P3084S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3084 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGCCCGTGAGGGTCAATCATT 0.478000 21 31 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17373620 17373620 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17373620G>A ENST00000252597.3 - 4 556 c.383C>T c.(382-384)tCc>tTc p.S128F USHBP1_ENST00000431146.2_Missense_Mutation_p.S64F|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 128 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TGCCTCCAGGGAGCTCAGAGT 0.657000 10 35 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91652971 91652971 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:91652971A>T ENST00000375835.4 - 11 1899 c.1593T>A c.(1591-1593)ttT>ttA p.F531L SHC3_ENST00000375830.1_Missense_Mutation_p.F79L|SHC3_ENST00000375831.1_Missense_Mutation_p.F79L NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 531 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCGTGAGGACAAAGGAGCCCG 0.632000 41 23 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768796 121768796 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:121768796T>C ENST00000282561.3 + 2 960 c.803T>C c.(802-804)tTc>tCc p.F268S NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 268 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TATGCTTATTTCAATGGCTGC 0.527000 10 15 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171687681 171687681 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:171687681T>A ENST00000358196.3 + 5 1076 c.526T>A c.(526-528)Ttg>Atg p.L176M GAD1_ENST00000344257.5_Missense_Mutation_p.L176M|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.L176M NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 176 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGAGACACCTTGAAGTATGG 0.547000 28 94 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179506986 179506986 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179506986C>T ENST00000589042.1 - 219 40760 c.40536G>A c.(40534-40536)aaG>aaA p.K13512K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.K4447K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.K11871K|TTN_ENST00000342992.6_Silent_p.K10944K|TTN_ENST00000342175.6_Silent_p.K4639K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Silent_p.K4572K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11871 Ig-like 91. 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) CAACTTCTTCCTTTGGTTCAG 0.313000 4 5 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88717214 88717214 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:88717214G>A ENST00000372027.4 - 1 158 c.85C>T c.(85-87)Ctc>Ttc p.L29F NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 29 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 AGATCAGAGAGGCTAGTACTG 0.652000 25 41 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178543421 178543421 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:178543421G>A ENST00000432997.1 + 3 454 c.102G>A c.(100-102)agG>agA p.R34R KCNMB2_ENST00000452583.1_Silent_p.R34R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R34R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R34R|RP11-385J1.2_ENST00000425330.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 34 Ball and chain. detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TGGACAAAAGGAAAACAGTCA 0.433000 34 91 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101336209 101336209 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101336209C>T ENST00000392979.3 + 4 608 c.247C>T c.(247-249)Cga>Tga p.R83* ANO4_ENST00000538618.1_Nonsense_Mutation_p.R284*|ANO4_ENST00000392977.3_Nonsense_Mutation_p.R118*|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 118 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGGAAAGTGTCGAATTGACTA 0.383000 HNSCC(74;0.22) 54 72 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130059738 130059738 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:130059738C>T ENST00000278742.5 + 5 963 c.545C>T c.(544-546)cCc>cTc p.P182L NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 182 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTCATGCTGCCCCCGCGGGCG 0.667000 29 56 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51410226 51410226 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51410226G>A ENST00000324041.1 - 5 728 c.729C>T c.(727-729)ttC>ttT p.F243F KLK4_ENST00000431178.2_3'UTR NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 243 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TCCACTCAGTGAATTTGCAGA 0.527000 37 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455032 179455032 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179455032G>A ENST00000589042.1 - 304 61644 c.61420C>T c.(61420-61422)Cca>Tca p.P20474S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11409S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18833S|TTN_ENST00000342992.6_Missense_Mutation_p.P17906S|TTN_ENST00000342175.6_Missense_Mutation_p.P11601S|TTN_ENST00000359218.5_Missense_Mutation_p.P11534S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18833 Fibronectin type-III 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) TCTACTTCTGGAGGATGAAGG 0.428000 32 70 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97045486 97045486 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:97045486C>T ENST00000524981.3 + 3 346 c.346C>T c.(346-348)Cct>Tct p.P116S Q6ZTY8 CL063_HUMAN 90 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TAAAACATTTCCTATTAGCCA 0.383000 13 44 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12383821 12383821 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12383821C>T ENST00000356109.5 - 5 1511 c.1393G>A c.(1393-1395)Gga>Aga p.G465R ZNF44_ENST00000355684.5_Missense_Mutation_p.G417R NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GGTTTCTCTCCAGTGTGAGTC 0.448000 14 41 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157049715 157049715 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157049715C>T ENST00000348165.5 + 22 3418 c.3058C>T c.(3058-3060)Cga>Tga p.R1020* NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1020 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AAGCTGCTCTCGACCCCCTCT 0.423000 65 46 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940169 144940169 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144940169G>A ENST00000525985.1 - 2 7324 c.7253C>T c.(7252-7254)tCt>tTt p.S2418F P58107 EPIPL_HUMAN epiplakin 1 2418 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) TCACTGTAGAGAGAGAGAAAG 0.507000 11 0 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179192 90179192 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:90179192C>T ENST00000370454.4 + 3 1318 c.1063C>T c.(1063-1065)Cgt>Tgt p.R355C LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 355 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) TGAGTATGTCCGTCAGGAGAC 0.383000 16 22 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918682 21918682 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:21918682C>T ENST00000240662.2 - 3 1595 c.1250G>A c.(1249-1251)gGa>gAa p.G417E RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 417 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GTTTTGATTTCCTTCTGGAGT 0.423000 44 83 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44099258 44099258 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:44099258G>A ENST00000272286.2 + 7 1198 c.1108G>A c.(1108-1110)Gag>Aag p.E370K NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 370 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGATCTTGACGAGGACACCTG 0.557000 32 54 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15124517 15124517 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15124517G>A ENST00000292574.3 + 2 686 c.604G>A c.(604-606)Gag>Aag p.E202K NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 202 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GCTTACATGGGAGAAAGAGGA 0.473000 14 29 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819866 110819866 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:110819866G>A ENST00000282356.4 + 11 1522 c.1124G>A c.(1123-1125)gGa>gAa p.G375E CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.G375E NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 375 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATTCCAGAAGGAGAGAAAATT 0.532000 25 42 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759807 196759807 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196759807C>T ENST00000312428.6 - 30 4889 c.4789G>A c.(4789-4791)Gaa>Aaa p.E1597K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1597 AAA 2 (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 ATCATCATTTCATATACTTGA 0.373000 18 33 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685852 198685852 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:198685852G>A ENST00000367376.2 + 13 1498 c.1327G>A c.(1327-1329)Gat>Aat p.D443N PTPRC_ENST00000352140.3_Missense_Mutation_p.D395N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D284N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D445N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D282N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 443 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GATCAAATATGATTTGCAAAA 0.318000 20 16 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20636748 20636748 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20636748C>T ENST00000219151.4 - 12 1687 c.477G>A c.(475-477)ggG>ggA p.G159G ACSM1_ENST00000307493.4_Silent_p.G508G|ACSM1_ENST00000520010.1_Silent_p.G508G Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 508 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCCTCACCTCCCCTCGAATCG 0.602000 8 24 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51295018 51295018 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51295018A>T ENST00000270593.1 + 4 409 c.409A>T c.(409-411)Agg>Tgg p.R137W ACPT_ENST00000270594.3_Intron NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 137 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGCCCGCTGGAGGCCGATCCC 0.697000 6 11 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764240 184764240 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:184764240G>A ENST00000367511.3 - 14 2851 c.2658C>T c.(2656-2658)gcC>gcT p.A886A FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 886 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CATGAATACGGGCTACCTTGA 0.562000 57 36 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221534 59221534 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59221534G>A ENST00000262717.4 + 12 2410 c.2012G>A c.(2011-2013)gGc>gAc p.G671D CDH20_ENST00000538374.1_Missense_Mutation_p.G671D|CDH20_ENST00000536675.2_Missense_Mutation_p.G671D Q9HBT6 CAD20_HUMAN cadherin 20, type 2 671 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAGGGCGGCGGCGAGGAGGAC 0.652000 42 107 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595364 55595364 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55595364A>C ENST00000378397.1 + 1 670 c.670A>C c.(670-672)Act>Cct p.T224P NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AATTCTCACCACTATCCTGAA 0.488000 HNSCC(27;0.073) 43 105 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32794048 32794048 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32794048G>A ENST00000216038.5 - 7 792 c.694C>T c.(694-696)Cag>Tag p.Q232* RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'UTR NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase TCCACAACCTGGATTTCTGCA 0.403000 35 108 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844624 215844624 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:215844624C>T ENST00000366943.2 - 64 14209 c.13823G>A c.(13822-13824)cGa>cAa p.R4608Q USH2A_ENST00000307340.3_Missense_Mutation_p.R4608Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4608 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGCTTGAATTCGTATTTCATA 0.418000 HNSCC(13;0.011) 26 42 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152937353 152937353 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:152937353G>A ENST00000393831.2 - 5 830 c.396C>T c.(394-396)atC>atT p.I132I PNCK_ENST00000370142.1_Silent_p.I132I|PNCK_ENST00000370145.4_Silent_p.I149I|PNCK_ENST00000370150.1_Silent_p.I132I|PNCK_ENST00000340888.3_Silent_p.I132I|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.I215I NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 132 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGGTGCACGATCCCCAGGC 0.667000 7 3 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216348660 216348660 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216348660G>A ENST00000366943.2 - 21 4947 c.4561C>T c.(4561-4563)Cgt>Tgt p.R1521C USH2A_ENST00000366942.3_Missense_Mutation_p.R1521C|USH2A_ENST00000307340.3_Missense_Mutation_p.R1521C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1521 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCTATGAAACGGATTCCTTTC 0.433000 HNSCC(13;0.011) 10 23 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362277 9362277 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9362277C>T ENST00000456448.1 + 1 672 c.558C>T c.(556-558)tgC>tgT p.C186C NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGCTCACCTGCTTCAAGGATG 0.403000 7 17 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 306005 306005 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:306005C>T ENST00000428720.1 - 11 1862 c.1119G>A c.(1117-1119)atG>atA p.M373I SLC6A12_ENST00000536824.1_Missense_Mutation_p.M373I|SLC6A12_ENST00000424061.2_Missense_Mutation_p.M373I|SLC6A12_ENST00000359674.4_Missense_Mutation_p.M373I|SLC6A12_ENST00000397296.2_Missense_Mutation_p.M373I NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 373 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ATAAGGGCATCATAGTCACAG 0.607000 27 82 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188287 7188287 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:7188287C>T ENST00000486284.1 + 2 942 c.668C>T c.(667-669)aCc>aTc p.T223I GRM7_ENST00000402647.2_Missense_Mutation_p.T223I|GRM7_ENST00000357716.4_Missense_Mutation_p.T223I|GRM7_ENST00000403881.1_Missense_Mutation_p.T223I|GRM7_ENST00000389336.4_Missense_Mutation_p.T223I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 223 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TATGTGTCTACCCTCGCATCG 0.527000 26 42 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739516 55739516 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55739516C>T ENST00000370830.3 - 1 846 c.148G>A c.(148-150)Gaa>Aaa p.E50K BMP5_ENST00000446683.2_Missense_Mutation_p.E50K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 50 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTTTGTATTTCCCGTCTTTCG 0.453000 94 71 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180586 124180586 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124180586G>A ENST00000357821.2 - 1 147 c.77C>T c.(76-78)cCc>cTc p.P26L NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GAGGAAGAGGGGCAGCTGGAG 0.478000 58 111 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43709740 43709740 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:43709740C>T ENST00000377564.3 + 2 569 c.176C>T c.(175-177)tCa>tTa p.S59L CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S59L NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 59 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CCGGGGTTTTCAAGGCTTAAT 0.473000 11 17 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13935541 13935541 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:13935541C>T ENST00000343495.5 - 13 2068 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K ETV1_ENST00000420159.2_Missense_Mutation_p.E404K|ETV1_ENST00000403685.1_Missense_Mutation_p.E444K|ETV1_ENST00000430479.1_Missense_Mutation_p.E462K|ETV1_ENST00000399357.3_Missense_Mutation_p.E359K|ETV1_ENST00000405192.2_Missense_Mutation_p.E439K|ETV1_ENST00000405358.4_Missense_Mutation_p.E476K|ETV1_ENST00000242066.5_Missense_Mutation_p.E444K|ETV1_ENST00000403527.1_Missense_Mutation_p.E422K|ETV1_ENST00000405218.2_Missense_Mutation_p.E462K P50549 ETV1_HUMAN ets variant 1 462 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGCCCCCTTCCGGCATGTAG 0.512000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 7 17 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124391389 124391389 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124391389C>T ENST00000338354.3 + 47 6084 c.5978C>T c.(5977-5979)cCt>cTt p.P1993L DMBT1_ENST00000359586.6_Missense_Mutation_p.P713L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1993L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1993 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTATCGACACCTGGTAAGTCC 0.498000 13 21 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950904 12950904 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:12950904G>A ENST00000273221.4 - 11 2705 c.2489C>T c.(2488-2490)tCt>tTt p.S830F NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 830 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCGGGGACAGACGAGGTGAG 0.552000 26 59 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 984707 984707 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:984707G>C ENST00000448903.2 + 7 909 c.768G>C c.(766-768)tgG>tgC p.W256C AP2A2_ENST00000534328.1_Missense_Mutation_p.W256C|AP2A2_ENST00000332231.5_Missense_Mutation_p.W256C NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 256 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGCTCCCTGGCTGTCTGTCA 0.577000 50 135 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207195977 207195977 + Missense_Mutation SNP C C T rs149585923 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:207195977C>T ENST00000359470.5 - 4 1381 c.1132G>A c.(1132-1134)Gag>Aag p.E378K C1orf116_ENST00000461135.2_Missense_Mutation_p.E132K NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 378 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GCCCGTGTCTCCTTGGGTCTG 0.592000 22 50 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018411 36018411 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36018411C>T ENST00000452271.2 - 1 801 c.773G>A c.(772-774)gGg>gAg p.G258E SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 131 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCAAATCTCCCTGCCTCATT 0.632000 3 5 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21775320 21775320 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:21775320G>A ENST00000328843.6 + 47 7555 c.7524G>A c.(7522-7524)gaG>gaA p.E2508E DNAH11_ENST00000409508.3_Silent_p.E2501E Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2508 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGTTGCTTGAGAAAGGAAAAC 0.423000 Kartagener syndrome 10 7 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58524960 58524960 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:58524960G>A ENST00000083182.3 - 13 2027 c.1740C>T c.(1738-1740)gtC>gtT p.V580V NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 580 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TCGGTCCCTCGACATTCTGAG 0.488000 46 85 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377795 50377795 + Silent SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50377795A>C ENST00000376020.2 - 4 1303 c.1278T>G c.(1276-1278)ctT>ctG p.L426L SHROOM4_ENST00000289292.7_Silent_p.L426L|SHROOM4_ENST00000460112.3_Silent_p.L310L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 426 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCCTGGTATCAAGGTGCACAT 0.577000 9 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650797 179650797 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179650797C>T ENST00000589042.1 - 14 2372 c.2148G>A c.(2146-2148)gaG>gaA p.E716E TTN_ENST00000460472.2_Silent_p.E670E|TTN_ENST00000360870.5_Silent_p.E716E|TTN_ENST00000591111.1_Silent_p.E716E|TTN_ENST00000342992.6_Silent_p.E716E|TTN_ENST00000342175.6_Silent_p.E670E|TTN_ENST00000359218.5_Silent_p.E670E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 716 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) GCTCTCTGGGCTCTCTGACTC 0.507000 11 26 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956639 54956639 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:54956639G>C ENST00000173898.7 + 12 3594 c.3482G>C c.(3481-3483)aGt>aCt p.S1161T TRO_ENST00000420798.2_Missense_Mutation_p.S692T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S764T|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1161 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGCTTTGGCAGTGCATCTAAT 0.557000 28 11 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176885177 176885177 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176885177G>A ENST00000292385.5 - 13 2273 c.1664C>T c.(1663-1665)tCc>tTc p.S555F DBN1_ENST00000393565.1_Missense_Mutation_p.S599F|DBN1_ENST00000512501.1_Missense_Mutation_p.S285F|DBN1_ENST00000393563.4_Missense_Mutation_p.S285F|DBN1_ENST00000309007.5_Missense_Mutation_p.S553F NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 553 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGCCAGGGACTCCCCTTC 0.642000 22 29 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119866561 119866561 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:119866561G>A ENST00000327554.2 + 2 629 c.164G>A c.(163-165)cGa>cAa p.R55Q RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 55 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCTTATACGAAGCCGGTGA 0.478000 3 13 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968542 87968542 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87968542C>T ENST00000307808.6 + 3 1254 c.834C>T c.(832-834)tcC>tcT p.S278S AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.S285S NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 278 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CACCTCCCTCCCTCCCCTCAA 0.552000 65 110 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26513530 26513530 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26513530G>A ENST00000376261.3 + 6 1177 c.674G>A c.(673-675)aGa>aAa p.R225K GAD2_ENST00000259271.3_Missense_Mutation_p.R225K|GAD2_ENST00000376248.1_Missense_Mutation_p.R111K NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 225 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AAGAAAATGAGAGAAATCATT 0.388000 33 66 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25589743 25589743 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:25589743G>A ENST00000269141.3 - 5 1063 c.640C>T c.(640-642)Ccc>Tcc p.P214S CDH2_ENST00000399380.3_Missense_Mutation_p.P183S NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 214 Cadherin 1. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCCGAGATGGGGTTGATAATG 0.488000 28 85 0 0 1 0 0 CCNYL2 414194 broad.mit.edu 37 10 42965547 42965547 + RNA SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:42965547G>C ENST00000483242.3 - 0 605 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 AAGTACTGAAGATGTGACCTC 0.423000 7 20 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541810 55541810 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55541810C>T ENST00000361760.1 + 1 897 c.897C>T c.(895-897)atC>atT p.I299I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I299I(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACAAAGATATCAATAACATGT 0.338000 11 29 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722955 53722955 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53722955C>T ENST00000536324.2 - 3 554 c.271G>A c.(271-273)Gat>Aat p.D91N SP7_ENST00000537210.2_Missense_Mutation_p.D73N|SP7_ENST00000303846.3_Missense_Mutation_p.D91N NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGAGGGTAATCATTAGCATAG 0.577000 43 70 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98155082 98155082 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:98155082C>T ENST00000357947.3 - 13 1813 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 530 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCACTCTCTTCCGTGGGGCCA 0.527000 28 42 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139101119 139101119 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139101119G>A ENST00000358701.5 - 12 1589 c.1552C>T c.(1552-1554)Cat>Tat p.H518Y NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 518 ERV/ALR sulfhydryl oxidase. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCACTCAGATGGCCTAGGAAG 0.622000 54 73 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47770481 47770481 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:47770481A>G ENST00000371828.3 - 4 577 c.90T>C c.(88-90)gcT>gcC p.A30A STAU1_ENST00000371856.2_Silent_p.A111A|STAU1_ENST00000371792.1_Silent_p.A30A|STAU1_ENST00000340954.7_Silent_p.A30A|STAU1_ENST00000347458.5_Silent_p.A30A|STAU1_ENST00000371802.1_Silent_p.A30A|STAU1_ENST00000360426.4_Silent_p.A30A NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 111 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TCGGGGGATAAGCACCTCCTC 0.388000 9 23 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483645 26483645 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:26483645G>A ENST00000295589.3 - 5 1096 c.902C>T c.(901-903)tCc>tTc p.S301F NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 301 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GTTGGCTGCGGAGCTGTTACT 0.617000 34 74 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134147705 134147705 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:134147705C>T ENST00000389887.5 + 3 2757 c.261C>T c.(259-261)ttC>ttT p.F87F GLB1L3_ENST00000431683.2_Silent_p.F87F Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 87 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GCCACAAGTTCCTGATCTTCG 0.572000 10 23 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70980795 70980795 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70980795C>T ENST00000334414.6 - 9 2347 c.2303G>A c.(2302-2304)gGa>gAa p.G768E PTPRB_ENST00000551525.1_Missense_Mutation_p.G767E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G460E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G550E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G550E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G768E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G460E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 550 Fibronectin type-III 9. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACCTGTTCTTCCTTTTACTGA 0.338000 13 37 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890850 70890850 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:70890850C>T ENST00000264436.3 - 16 2332 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.E630K NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 630 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTGCTTGTTTCTGTCTTCTTA 0.507000 8 15 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8591470 8591470 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8591470C>T ENST00000338257.8 - 24 2904 c.2637G>A c.(2635-2637)gtG>gtA p.V879V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 879 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCTCCTTCTTCACCCGAAACT 0.687000 2 0 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340980 121340980 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:121340980C>T ENST00000338040.4 + 3 1118 c.704C>T c.(703-705)tCa>tTa p.S235L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 235 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACAAATTCATCAGCGAGCTGT 0.463000 12 17 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670468 25670468 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:25670468G>A ENST00000281589.3 + 1 169 c.132G>A c.(130-132)agG>agA p.R44R NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 44 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGATCTGCAGGGACTTGATCA 0.572000 18 70 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072509 17072509 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:17072509C>T ENST00000359963.3 - 1 1191 c.932G>A c.(931-933)gGc>gAc p.G311D NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 311 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CACCACGATGCCATACTTGTC 0.552000 55 243 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49855477 49855477 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:49855477C>T ENST00000376088.3 + 14 2935 c.2294C>T c.(2293-2295)cCc>cTc p.P765L CLCN5_ENST00000376091.3_Missense_Mutation_p.P765L|CLCN5_ENST00000307367.2_Missense_Mutation_p.P695L|CLCN5_ENST00000376108.3_Missense_Mutation_p.P695L NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 695 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GACCTTACACCCATGGAGATC 0.493000 33 12 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23239112 23239112 + Silent SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:23239112A>T ENST00000258742.5 + 6 904 c.645A>T c.(643-645)gcA>gcT p.A215A NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 215 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCAAGCAGCACCTGCATTTG 0.358000 36 68 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44180998 44180998 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:44180998C>T ENST00000291539.6 + 13 1126 c.1066C>T c.(1066-1068)Cat>Tat p.H356Y PDE9A_ENST00000380328.2_Missense_Mutation_p.H303Y|PDE9A_ENST00000328862.6_Missense_Mutation_p.H330Y|PDE9A_ENST00000398234.3_Missense_Mutation_p.H255Y|PDE9A_ENST00000398232.3_Missense_Mutation_p.H289Y|PDE9A_ENST00000335512.4_Missense_Mutation_p.H296Y|PDE9A_ENST00000398236.3_Missense_Mutation_p.H270Y|PDE9A_ENST00000398224.3_Missense_Mutation_p.H229Y|PDE9A_ENST00000335440.6_Missense_Mutation_p.H254Y|PDE9A_ENST00000398225.3_Missense_Mutation_p.H315Y|PDE9A_ENST00000398229.3_Missense_Mutation_p.H222Y|PDE9A_ENST00000539837.1_Missense_Mutation_p.H228Y|PDE9A_ENST00000398227.3_Missense_Mutation_p.H196Y|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Missense_Mutation_p.H228Y NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 356 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 CGATCTGGACCATCCCGGCTA 0.493000 19 42 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922426 24922426 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24922426C>T ENST00000329468.2 + 1 1886 c.1412C>T c.(1411-1413)cCc>cTc p.P471L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GACCTTGTTCCCATTTTGGGT 0.488000 59 80 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116933447 116933447 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:116933447C>T ENST00000537345.1 + 10 1629 c.1266C>T c.(1264-1266)tcC>tcT p.S422S ATP1A1_ENST00000295598.5_Silent_p.S422S|ATP1A1_ENST00000369496.4_Silent_p.S391S NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 422 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TTGCTCTGTCCAGAATTGCAG 0.433000 43 79 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200974808 200974808 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:200974808C>T ENST00000332129.2 - 4 778 c.462G>A c.(460-462)gaG>gaA p.E154E KIF21B_ENST00000360529.5_Silent_p.E154E|KIF21B_ENST00000461742.2_Silent_p.E154E|KIF21B_ENST00000422435.2_Silent_p.E154E NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 154 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGTCAAGGATCTCCTCGTTGT 0.542000 49 77 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57007848 57007848 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:57007848G>A ENST00000179765.5 - 5 914 c.715C>T c.(715-717)Cct>Tct p.P239S BAZ2A_ENST00000549884.1_Missense_Mutation_p.P269S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P271S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P241S Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 271 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGGTCAGGGACCAGGACT 0.488000 26 58 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161495082 161495082 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:161495082G>A ENST00000356592.3 + 1 537 c.77G>A c.(76-78)tGg>tAg p.W26* GABRG2_ENST00000414552.2_Nonsense_Mutation_p.W26*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.W26*|GABRG2_ENST00000393933.4_5'UTR NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 26 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATGACGGTGTGGATTCTGCTC 0.488000 7 31 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300757 62300757 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62300757G>A ENST00000378024.4 - 5 1406 c.1132C>T c.(1132-1134)Cca>Tca p.P378S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 378 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAAGTGATGGCCCAGTGATT 0.597000 14 36 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141422 63141422 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63141422C>T ENST00000279178.3 + 4 967 c.718C>T c.(718-720)Cct>Tct p.P240S SLC22A9_ENST00000310969.4_Missense_Mutation_p.P188L NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 240 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGGAATGTGCCCTTCTGGTAT 0.478000 12 44 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3839645 3839645 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3839645G>A ENST00000309890.7 - 16 2590 c.2440C>T c.(2440-2442)Ctg>Ttg p.L814L ATP2A3_ENST00000397043.3_Silent_p.L814L|ATP2A3_ENST00000397035.3_Silent_p.L814L|ATP2A3_ENST00000352011.3_Silent_p.L814L|ATP2A3_ENST00000397041.3_Silent_p.L814L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.L814L NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 814 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ATGATGTCCAGGTCTGGCGGG 0.642000 33 53 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814626 106814626 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106814626C>T ENST00000407775.2 + 8 2566 c.2316C>T c.(2314-2316)tcC>tcT p.S772S RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.S640S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S503S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S640S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 772 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTGTACCTCCACTCAAGAAC 0.463000 45 16 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97522337 97522337 + Nonsense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:97522337C>G ENST00000375315.2 + 1 272 c.272C>G c.(271-273)tCa>tGa p.S91* C9orf3_ENST00000297979.5_Nonsense_Mutation_p.S91*|C9orf3_ENST00000277198.2_Nonsense_Mutation_p.S91* NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 91 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGGACCTTCTCATCTGAAATG 0.413000 29 27 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725439 41725439 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:41725439G>A ENST00000400454.1 - 5 1364 c.887C>T c.(886-888)tCc>tTc p.S296F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 296 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTATCTGTTGGACACTTCACA 0.532000 45 77 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20065771 20065771 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:20065771G>A ENST00000396085.1 + 13 3513 c.3152G>A c.(3151-3153)aGg>aAg p.R1051K NAV2_ENST00000360655.4_Missense_Mutation_p.R987K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.R137K|NAV2_ENST00000396087.3_Missense_Mutation_p.R1074K|NAV2_ENST00000527559.2_Missense_Mutation_p.R1003K|NAV2_ENST00000533917.1_Missense_Mutation_p.R137K|NAV2_ENST00000540292.1_Missense_Mutation_p.R1005K|NAV2_ENST00000349880.4_Missense_Mutation_p.R1051K NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1074 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACCATGCCAAGGACGAAGCCT 0.582000 12 25 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39814834 39814834 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:39814834C>T ENST00000216160.6 + 6 710 c.648C>T c.(646-648)ttC>ttT p.F216F TAB1_ENST00000331454.3_Silent_p.F216F NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 216 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 ATGAGCTCTTCCGTCTTTCGC 0.577000 26 96 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545313 28545313 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28545313G>A ENST00000401766.2 - 4 1033 c.521C>T c.(520-522)tCc>tTc p.S174F SLC6A4_ENST00000261707.3_Missense_Mutation_p.S174F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 174 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTTGTAGTAGGAAGCAATGTA 0.547000 12 23 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152507129 152507129 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:152507129C>T ENST00000397345.3 - 53 7388 c.7186G>A c.(7186-7188)Gat>Aat p.D2396N NEB_ENST00000604864.1_Missense_Mutation_p.D2396N|NEB_ENST00000603639.1_Missense_Mutation_p.D2396N|NEB_ENST00000427231.2_Missense_Mutation_p.D2396N|NEB_ENST00000172853.10_Missense_Mutation_p.D2396N|NEB_ENST00000409198.1_Missense_Mutation_p.D2396N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2396 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCACAACATCGTTCTGATCA 0.388000 78 135 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4616188 4616188 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4616188G>A ENST00000450052.2 + 2 992 c.992G>A c.(991-993)gGa>gAa p.G331E OR52I1_ENST00000530443.2_Missense_Mutation_p.G307E Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGCTGGAGGGAATATGGAGT 0.468000 58 75 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41181619 41181619 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41181619C>T ENST00000263413.3 - 7 1033 c.769G>A c.(769-771)Gat>Aat p.D257N C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D257N NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 257 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAAGTTAAATCCTTGTAGAAA 0.363000 11 27 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66918732 66918732 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66918732C>T ENST00000311765.2 + 2 879 c.545C>T c.(544-546)cCc>cTc p.P182L PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 182 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AGCATGAAACCCTTGCTGCCC 0.547000 20 31 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60780970 60780970 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60780970G>A ENST00000313421.7 + 7 1412 c.1226G>A c.(1225-1227)gGa>gAa p.G409E CD6_ENST00000452451.2_Missense_Mutation_p.G409E|CD6_ENST00000352009.5_Missense_Mutation_p.G409E|CD6_ENST00000344028.5_Missense_Mutation_p.G409E|CD6_ENST00000346437.4_Missense_Mutation_p.G409E|CD6_ENST00000545105.1_3'UTR NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 409 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 ATCGTTCTGGGAATTCTCCTC 0.458000 63 132 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153054170 153054170 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:153054170G>A ENST00000285900.5 + 6 1153 c.810G>A c.(808-810)tgG>tgA p.W270* GRIA1_ENST00000521843.2_Nonsense_Mutation_p.W201*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.W280*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.W270*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.W190*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.W280* NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 270 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCAGCAGTGGAAGAATAGTG 0.532000 39 67 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069988 57069988 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57069988C>T ENST00000532437.1 - 6 4939 c.4628G>A c.(4627-4629)cGa>cAa p.R1543Q TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1543Q Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1543 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TTGGGAGGGTCGCCGAGAAGT 0.632000 7 14 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127327810 127327810 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:127327810G>A ENST00000265056.7 + 8 1616 c.1372G>A c.(1372-1374)Gat>Aat p.D458N NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 458 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GGAACTGACCGATGAAGATGT 0.547000 48 60 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9066956 9066956 + Missense_Mutation SNP G G A rs146672079 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:9066956G>A ENST00000383836.3 - 14 2094 c.1667C>T c.(1666-1668)tCc>tTc p.S556F SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.S532F NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 556 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.S556F(1) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCTCTCAAAGGAATTTTTGAT 0.478000 T RAF1 pilocytic astrocytoma 30 52 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 213384 213384 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:213384A>T ENST00000526104.1 + 9 2785 c.1441A>T c.(1441-1443)Atg>Ttg p.M481L RIC8A_ENST00000325207.5_Missense_Mutation_p.M487L|RIC8A_ENST00000527696.1_Missense_Mutation_p.M475L Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 481 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GCACGAGGCCATGAAGCTGGT 0.592000 5 5 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111856354 111856354 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:111856354C>T ENST00000341259.2 + 2 762 c.405C>T c.(403-405)ttC>ttT p.F135F NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 135 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 ccTGCTCCTTCCAGCACTTTC 0.806000 5 10 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545157 28545157 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28545157G>A ENST00000401766.2 - 4 1189 c.677C>T c.(676-678)tCc>tTc p.S226F SLC6A4_ENST00000261707.3_Missense_Mutation_p.S226F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 226 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TTCAGCAGGGGACGTGGAATG 0.547000 10 43 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940978 22940978 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:22940978G>A ENST00000397104.3 - 5 1459 c.1460C>T c.(1459-1461)tCa>tTa p.S487L ZNF99_ENST00000596209.1_Missense_Mutation_p.S578L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTAAGATGTGAAGATTGCTT 0.358000 24 56 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7459299 7459299 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7459299C>T ENST00000399422.4 + 2 420 c.372C>T c.(370-372)atC>atT p.I124I NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 124 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGCCCAGAATCCCTGAGTGGT 0.512000 6 10 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160535389 160535389 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160535389G>A ENST00000368054.3 - 2 228 c.193C>T c.(193-195)Cca>Tca p.P65S CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.P65S|CD84_ENST00000311224.4_Missense_Mutation_p.P65S|CD84_ENST00000368048.3_Missense_Mutation_p.P65S NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 65 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GAGTCTCCTGGTGTTACATAA 0.423000 51 100 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597406 136597406 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:136597406C>T ENST00000531224.1 - 5 1509 c.1257G>A c.(1255-1257)caG>caA p.Q419Q BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.Q417Q|BCLAF1_ENST00000527759.1_Silent_p.Q417Q|BCLAF1_ENST00000527536.1_Silent_p.Q419Q|BCLAF1_ENST00000353331.4_Silent_p.Q417Q NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 419 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AACTTTTACCCTGATCTGCGA 0.418000 43 180 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117982457 117982457 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:117982457C>T ENST00000534111.1 + 8 844 c.577_splice c.e8-1 p.A193_splice TMPRSS4_ENST00000437212.3_Splice_Site_p.A195_splice|TMPRSS4_ENST00000523251.1_Splice_Site_p.A155_splice|TMPRSS4_ENST00000522307.1_Splice_Site_p.A48_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.A190_splice NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 195 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGTGTCCAGCCTGTGGGAAGA 0.607000 7 14 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9532129 9532129 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:9532129T>A ENST00000352665.5 + 9 1235 c.1166T>A c.(1165-1167)aTc>aAc p.I389N WDR16_ENST00000299764.5_Missense_Mutation_p.I399N|WDR16_ENST00000396219.3_Missense_Mutation_p.I321N NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 389 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GGCAAAAGCATCATTTCAGGT 0.522000 32 66 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373490 5373490 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5373490C>T ENST00000380219.1 + 1 753 c.753C>T c.(751-753)gtC>gtT p.V251V AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCTATGTCACTGTAGTTT 0.443000 46 91 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120180188 120180188 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:120180188G>A ENST00000260264.4 + 10 1001 c.967G>A c.(967-969)Gag>Aag p.E323K POU2F3_ENST00000543440.2_Missense_Mutation_p.E321K NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 321 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTGTCCATGGAGAAGGAGGT 0.532000 20 27 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22848105 22848105 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:22848105C>T ENST00000404138.1 + 16 3676 c.3165C>T c.(3163-3165)ttC>ttT p.F1055F ZBTB40_ENST00000375647.4_Silent_p.F1055F|ZBTB40_ENST00000374651.4_Silent_p.F943F NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1055 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ACAAAACCTTCCCCAACACCA 0.542000 45 91 0 0 1 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744195 31744195 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:31744195C>T ENST00000399889.2 - 1 362 c.337G>A c.(337-339)Gga>Aga p.G113R NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 113 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CTCCTCGATCCATAGCCCAGG 0.582000 12 20 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381435 81381435 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:81381435C>T ENST00000423064.2 - 5 759 c.626G>A c.(625-627)gGt>gAt p.G209D HGF_ENST00000453411.1_Splice_Site|HGF_ENST00000457544.2_Splice_Site|HGF_ENST00000444829.2_Splice_Site|HGF_ENST00000222390.5_Splice_Site NM_001010934.1 NP_001010934.1 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 0 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GGTTTATTTACCTTCTGAACA 0.438000 17 45 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731490 21731490 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:21731490C>T ENST00000578713.1 + 2 569 c.565C>T c.(565-567)Ccc>Tcc p.P189S UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGAAGGCATCCCCCCCGATCA 0.537000 16 25 0 0 1 0 0 TREML4 285852 broad.mit.edu 37 6 41197258 41197258 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:41197258G>A ENST00000341495.2 + 3 498 c.e3-1 TREML4_ENST00000448827.2_Splice_Site NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) TTTCTCTTTAGCCCCAACCAC 0.572000 122 168 0 0 1 0 0 LCE5A 254910 broad.mit.edu 37 1 152484149 152484149 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152484149C>T ENST00000334269.2 + 2 315 c.139C>T c.(139-141)Cca>Tca p.P47S NM_178438.4 NP_848525.1 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 47 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATGCCCACCTCCAGTCTCTTC 0.622000 26 54 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134671205 134671205 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:134671205C>T ENST00000368586.5 - 39 5563 c.5463G>A c.(5461-5463)gaG>gaA p.E1821E TTC40_ENST00000263170.5_5'UTR NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 486 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCCCTTCTTCCTCAGCTACGG 0.537000 8 10 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24718051 24718051 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24718051C>T ENST00000314328.9 + 5 1388 c.1103C>T c.(1102-1104)tCc>tTc p.S368F SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S368F|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S368F|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.S368F NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 368 cell cycle|cell division p.S368F(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 GCACCATCCTCCTCAGAGTCG 0.572000 38 34 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054186 29054186 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29054186G>A ENST00000377173.2 - 1 904 c.840C>T c.(838-840)atC>atT p.I280I NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TGGATGTGATGATTCCATAGA 0.413000 58 28 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24231681 24231681 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:24231681G>A ENST00000396671.2 - 5 515 c.167C>T c.(166-168)cCa>cTa p.P56L THRB_ENST00000416420.1_Missense_Mutation_p.P56L|THRB_ENST00000356447.4_Missense_Mutation_p.P56L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 56 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GATGAGATGTGGCGACGACTG 0.502000 30 58 0 0 1 0 0 IGHV7-81 28378 broad.mit.edu 37 14 107282870 107282870 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:107282870C>T ENST00000390639.2 - 0 326 CAGAGGTGTCCATGGAGAAGA 0.537000 22 59 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768283 117768283 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:117768283C>T ENST00000317775.6 - 2 1277 c.592G>A c.(592-594)Ggc>Agc p.G198S NOS1_ENST00000338101.4_Missense_Mutation_p.G198S|NOS1_ENST00000344089.3_Missense_Mutation_p.G198S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 198 Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCCCCTCTGCCTTGGAGGCTG 0.642000 54 94 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141214153 141214153 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141214153C>T ENST00000389484.3 - 62 10805 c.9834G>A c.(9832-9834)atG>atA p.M3278I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3278 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.M3278I(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTATTTATCATGCAGAGAT 0.373000 TSP Lung(27;0.18) 34 48 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227915704 227915704 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:227915704G>A ENST00000396625.3 - 33 3346 c.3139C>T c.(3139-3141)Cca>Tca p.P1047S COL4A4_ENST00000329662.7_Missense_Mutation_p.P1047S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1047 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGTCACCTGGAAGTCCTGGA 0.527000 26 51 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518394 84518394 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:84518394C>T ENST00000331369.5 + 0 588 GGCATGGCATCCTAAAGAAGA 0.473000 45 70 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81624882 81624882 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81624882G>A ENST00000548058.1 + 12 2471 c.1561G>A c.(1561-1563)Gaa>Aaa p.E521K ACSS3_ENST00000548324.1_Missense_Mutation_p.E203K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E520K Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 521 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAAGAATCAGGAAGCATTCAA 0.303000 6 18 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230691 46230691 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46230691C>T ENST00000334344.6 + 8 1112 c.940C>T c.(940-942)Cgt>Tgt p.R314C ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R165C NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R314S(1)|p.R314C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACCTGTCTTCGTTTCCTATT 0.398000 """N, S, F""" hepatocellular carcinoma 24 53 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 106967810 106967810 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:106967810A>G ENST00000273980.4 - 27 3046 c.2599T>C c.(2599-2601)Tat>Cat p.Y867H TBCK_ENST00000394706.3_Missense_Mutation_p.Y828H|TBCK_ENST00000432496.2_Missense_Mutation_p.Y867H|TBCK_ENST00000361687.4_Missense_Mutation_p.Y804H|TBCK_ENST00000394708.2_Missense_Mutation_p.Y867H Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 867 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 ATTCTTGGATATTTCATCTTC 0.378000 11 18 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932823 148932823 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148932823C>T ENST00000539543.1 + 0 79 NR_027355.1 CGCCAGGCCTCCATAGAGCTG 0.597000 13 163 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798304 38798304 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38798304C>T ENST00000449082.2 - 9 1150 c.1151G>A c.(1150-1152)gGa>gAa p.G384E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 384 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTAGAAAGATCCCAGGAAGAT 0.453000 40 72 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74450947 74450947 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74450947C>T ENST00000307439.5 - 6 811 c.517G>A c.(517-519)Gaa>Aaa p.E173K RASSF6_ENST00000395777.2_Missense_Mutation_p.E173K|RASSF6_ENST00000335049.5_Missense_Mutation_p.E161K|RASSF6_ENST00000342081.3_Missense_Mutation_p.E205K NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 205 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTCTGTCTTTCTTTTCTGTCC 0.383000 17 34 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978308 69978308 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69978308G>A ENST00000305231.7 + 6 1490 c.1444G>A c.(1444-1446)Gac>Aac p.D482N UGT2B7_ENST00000508661.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 482 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCAGCCCACGACCTCACCTG 0.483000 66 119 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071048 240071048 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:240071048G>A ENST00000255380.4 + 5 1076 c.297G>A c.(295-297)ctG>ctA p.L99L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 99 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACAAGCAGCTGAAGACGGTCA 0.468000 12 21 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625798 141625798 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141625798G>A ENST00000389484.3 - 26 5175 c.4204C>T c.(4204-4206)Cct>Tct p.P1402S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1402 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) TCAATGCGAGGAAAATTTGCA 0.348000 TSP Lung(27;0.18) 21 51 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220804394 220804394 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:220804394A>G ENST00000402574.1 + 10 1524 c.522A>G c.(520-522)cgA>cgG p.R174R MARK1_ENST00000366917.4_Silent_p.R309R|MARK1_ENST00000366918.4_Silent_p.R287R NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 309 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TGAAAGATCGATGGATGAATG 0.333000 3 61 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196636426 196636426 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196636426C>T ENST00000312428.6 - 61 11491 c.11391G>A c.(11389-11391)aaG>aaA p.K3797K DNAH7_ENST00000409063.1_Silent_p.K280K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3797 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 CTCTTATGGTCTTCAGTAACT 0.378000 49 92 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466480 68466480 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:68466480C>T ENST00000478136.1 + 3 659 c.169C>T c.(169-171)Cgc>Tgc p.R57C FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.R57C NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 57 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) TAACAAGAATCGCATTGAGGA 0.473000 17 28 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290653 141290653 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:141290653C>T ENST00000247452.3 - 3 1468 c.1121G>A c.(1120-1122)tGa>tAa p.*374* NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 0 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCCTAGACTTCACTCAGAAAA 0.507000 HNSCC(46;0.14) 22 9 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815598 158815598 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158815598G>A ENST00000368141.4 + 5 1053 c.792G>A c.(790-792)aaG>aaA p.K264K NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 264 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TAAGGAAGAAGGTCATTACCA 0.358000 18 21 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10101555 10101555 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:10101555G>A ENST00000324907.9 + 4 795 c.659G>A c.(658-660)gGc>gAc p.G220D GRHL1_ENST00000405379.2_Missense_Mutation_p.G220D|GRHL1_ENST00000324883.5_Missense_Mutation_p.A57T NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 220 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TTCAAGGAAGGCGTTCAGGAG 0.463000 32 46 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247152 10247152 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10247152G>A ENST00000418404.3 - 15 2022 c.1859C>T c.(1858-1860)tCc>tTc p.S620F MYH13_ENST00000570743.1_Missense_Mutation_p.S620F|MYH13_ENST00000252172.4_Missense_Mutation_p.S620F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 620 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AAAAAGGAAGGAGAGAAGCTT 0.498000 15 26 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112050169 112050169 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:112050169G>A ENST00000357685.5 + 2 392 c.257G>A c.(256-258)cGa>cAa p.R86Q BCO2_ENST00000438022.1_Missense_Mutation_p.R52Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R86Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R52Q|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000531169.1_Missense_Mutation_p.R52Q|BCO2_ENST00000526088.1_Missense_Mutation_p.R52Q|BCO2_ENST00000532593.1_Intron Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 86 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TCTCTACTTCGAATTGGACCT 0.498000 22 49 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034608 128034608 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:128034608G>A ENST00000338791.6 - 15 1946 c.1596C>T c.(1594-1596)atC>atT p.I532I IMPDH1_ENST00000470772.1_Silent_p.I446I|IMPDH1_ENST00000378717.4_Silent_p.I463I|IMPDH1_ENST00000354269.5_Silent_p.I522I|IMPDH1_ENST00000496200.1_Silent_p.I422I|IMPDH1_ENST00000419067.2_Silent_p.I499I|IMPDH1_ENST00000348127.6_Silent_p.I496I|IMPDH1_ENST00000343214.4_Silent_p.I422I|IMPDH1_ENST00000480861.1_Silent_p.I442I NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 447 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CTTTGTCCTGGATGGAGCCCG 0.602000 108 62 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39051792 39051792 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:39051792C>T ENST00000355481.4 + 89 12438 c.12307C>T c.(12307-12309)Cag>Tag p.Q4103* RYR1_ENST00000360985.3_Nonsense_Mutation_p.Q4103*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.Q4108* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4108 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCAGAAATCCAGTTCCTGCT 0.567000 15 34 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38869168 38869168 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:38869168C>T ENST00000274276.3 + 2 424 c.22C>T c.(22-24)Cag>Tag p.Q8* OSMR_ENST00000502536.1_Nonsense_Mutation_p.Q8* NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 8 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGCAGTCTTTCAGACAACATT 0.343000 44 49 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151818999 151818999 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151818999C>T ENST00000370306.2 + 7 877 c.857C>T c.(856-858)tCg>tTg p.S286L NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 286 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity p.S286L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGATATCGTTTTGGATG 0.453000 117 49 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160968945 160968945 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:160968945C>T ENST00000447678.1 - 33 5300 c.5180G>A c.(5179-5181)gGa>gAa p.G1727E LPA_ENST00000316300.5_Missense_Mutation_p.G1727E NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4235 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCCCCGGTATCCTTTCCCATT 0.483000 29 23 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668094 94668094 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:94668094C>T ENST00000370217.3 - 11 1399 c.1149G>A c.(1147-1149)acG>acA p.T383T ARHGAP29_ENST00000260526.6_Intron Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 0 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AGAAAAAGATCGTTACTTTTT 0.418000 22 44 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40447666 40447666 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:40447666C>G ENST00000345506.4 + 6 1047 c.405C>G c.(403-405)gaC>gaG p.D135E STAT5A_ENST00000588868.1_Missense_Mutation_p.D135E|STAT5A_ENST00000590949.1_Missense_Mutation_p.D135E|STAT5A_ENST00000546010.2_Missense_Mutation_p.D105E|STAT5A_ENST00000452307.2_Missense_Mutation_p.D135E NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 135 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TCCTGGTTGACGCCATGTCCC 0.532000 12 12 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000170 73000170 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:73000170C>T ENST00000322038.5 + 2 3257 c.2673C>T c.(2671-2673)tcC>tcT p.S891S TSHZ1_ENST00000580243.1_Silent_p.S936S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 936 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CTGGGCTCTCCATGACCACCA 0.557000 12 40 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56977713 56977713 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:56977713G>A ENST00000371250.3 - 5 1296 c.745C>T c.(745-747)Cac>Tac p.H249Y PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 249 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TGGTGCTTGTGGTCTGATACG 0.572000 37 52 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481558 159481558 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:159481558C>T ENST00000389757.3 + 7 897 c.772C>T c.(772-774)Ccc>Tcc p.P258S PKP4_ENST00000389759.3_Missense_Mutation_p.P258S NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 258 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACCTCTGAACCCCAGTGCATA 0.577000 HNSCC(62;0.18) 15 53 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968541 87968541 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87968541C>T ENST00000307808.6 + 3 1253 c.833C>T c.(832-834)tCc>tTc p.S278F AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S285F NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 278 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCACCTCCCTCCCTCCCCTCA 0.547000 66 109 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67265175 67265175 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67265175G>A ENST00000258201.4 - 17 2830 c.2583C>T c.(2581-2583)caC>caT p.H861H FHOD1_ENST00000567687.1_Silent_p.H440H NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 861 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGCAGAGATGGTGTAGCAGTG 0.577000 26 46 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730860 57730860 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:57730860C>T ENST00000281282.5 + 2 741 c.663C>T c.(661-663)tcC>tcT p.S221S NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 221 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TATGCAGCTCCGTGGTCATAG 0.537000 41 81 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2595331 2595331 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:2595331G>A ENST00000570628.1 - 23 3609 c.3504C>T c.(3502-3504)caC>caT p.H1168H CLUH_ENST00000435359.1_Silent_p.H1168H|CLUH_ENST00000575014.1_Silent_p.H1101H|CLUH_ENST00000538975.1_Silent_p.H1168H clustered mitochondria (cluA/CLU1) homolog CCTCCTTCTCGTGCTGCAGGG 0.751000 7 9 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156925515 156925515 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:156925515G>A ENST00000368194.3 - 20 2787 c.1748C>T c.(1747-1749)cCc>cTc p.P583L ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P543L NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 543 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGAGCTTTTGGGCTTCCCAAT 0.498000 72 125 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49597902 49597902 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:49597902C>T ENST00000527477.1 + 0 506 TGGGTGACATCATTATTGGAG 0.498000 18 34 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038078 62038078 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62038078A>C ENST00000354587.3 - 17 2738 c.2562T>G c.(2560-2562)tgT>tgG p.C854W KCNQ2_ENST00000344462.3_Missense_Mutation_p.C842W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.C818W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.C854W|KCNQ2_ENST00000430658.1_Missense_Mutation_p.C815W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.C846W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.C828W|KCNQ2_ENST00000370226.1_Missense_Mutation_p.C816W|KCNQ2_ENST00000359125.2_Missense_Mutation_p.C846W O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 846 R -> C (in Ref. 4; AAD16988). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CGCACGGGGTACAGAGGTCGG 0.697000 3 7 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579648 43579648 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:43579648C>T ENST00000406487.1 - 3 665 c.567G>A c.(565-567)atG>atA p.M189I NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 189 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ACCTATGAGTCATAGGGAGGC 0.483000 122 182 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957464 111957464 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:111957464C>T ENST00000369732.3 - 11 1714 c.1659G>A c.(1657-1659)caG>caA p.Q553Q NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 553 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GGGTCTCAGTCTGAAAATGGA 0.542000 38 76 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46066470 46066470 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:46066470C>T ENST00000295452.4 - 5 780 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 205 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGAAAATTCCAGTGGACAG 0.274000 37 68 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576415 8576415 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8576415C>T ENST00000393927.4 - 6 993 c.880G>A c.(880-882)Ggc>Agc p.G294S ZNF414_ENST00000255616.8_Missense_Mutation_p.G294S NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 GGGCTGCTGCCAGCACCTGCG 0.687000 3 8 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587205 26587205 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:26587205G>A ENST00000436318.2 - 2 415 c.282C>T c.(280-282)ctC>ctT p.L94L MUC15_ENST00000281268.8_Silent_p.L94L|MUC15_ENST00000527569.1_Silent_p.L94L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Silent_p.L67L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.L94L Q8N387 MUC15_HUMAN mucin 15, cell surface associated 67 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GACTCGCCTTGAGATTTGAGG 0.373000 27 34 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871893 23871893 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:23871893A>G ENST00000354639.3 + 24 3363 c.2899A>G c.(2899-2901)Acc>Gcc p.T967A STK31_ENST00000428484.1_Missense_Mutation_p.T967A|STK31_ENST00000433467.2_Missense_Mutation_p.T967A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.T990A NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 990 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TACTGAATACACCCTATATAA 0.328000 12 63 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21414932 21414932 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21414932G>A ENST00000534331.1 - 2 338 c.288C>T c.(286-288)ttC>ttT p.F96F C10orf113_ENST00000377118.4_Silent_p.F86F|C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 96 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TGTAGAGACTGAAGCTGACTC 0.607000 13 25 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997130 66997130 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66997130G>A ENST00000303334.4 + 2 202 c.131G>A c.(130-132)cGa>cAa p.R44Q CES3_ENST00000394037.1_Missense_Mutation_p.R44Q|RP11-361L15.4_ENST00000566869.1_RNA NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 44 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGTCGTGTGCGAGGCCGGCAG 0.637000 37 55 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4821370 4821370 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:4821370C>T ENST00000348624.4 + 3 445 c.351C>T c.(349-351)tcC>tcT p.S117S AP5Z1_ENST00000401897.1_Silent_p.S117S NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 117 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding TGGTGGCCTCCGTTCTCTTGG 0.662000 7 24 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935724 151935724 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151935724G>A ENST00000393902.3 - 3 1010 c.443C>T c.(442-444)cCt>cTt p.P148L MAGEA3_ENST00000370278.3_Missense_Mutation_p.P148L P43357 MAGA3_HUMAN melanoma antigen family A, 3 148 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GAAGATCACAGGAAAGAAATA 0.517000 43 18 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144549 12144549 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:12144549G>A ENST00000263932.2 + 2 314 c.92G>A c.(91-93)gGa>gAa p.G31E TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 31 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGTCATGGAAACCCCAGC 0.592000 51 89 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591503 50591503 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50591503C>T ENST00000262794.5 + 22 3005 c.2922C>T c.(2920-2922)tcC>tcT p.S974S MOV10L1_ENST00000395843.1_Silent_p.S17S|MOV10L1_ENST00000395852.1_Silent_p.S101S|MOV10L1_ENST00000395858.3_Silent_p.S974S|MOV10L1_ENST00000540615.1_Silent_p.S954S|MOV10L1_ENST00000545383.1_Silent_p.S974S|MOV10L1_ENST00000354853.2_Silent_p.S17S NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 974 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ACTACCGGTCCCACGAGGCCC 0.602000 34 143 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945174 55945174 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55945174C>T ENST00000394256.2 + 1 192 c.164C>T c.(163-165)aCc>aTc p.T55I RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CACCTCCAGACCCCCATGTAT 0.408000 95 188 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581755 7581755 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7581755G>A ENST00000379802.3 + 23 5673 c.5332G>A c.(5332-5334)Gaa>Aaa p.E1778K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1778 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGAGAGAGGGAAAATTTGAG 0.408000 34 136 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58749978 58749978 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58749978G>A ENST00000245206.5 - 8 1087 c.959C>T c.(958-960)cCc>cTc p.P320L GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.P277L NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 320 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCATTGAGGGGAGGGTTGGA 0.517000 28 30 0 0 1 0 0 CSF3 1440 broad.mit.edu 37 17 38172059 38172059 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:38172059G>A ENST00000331769.2 + 1 360 c.144G>A c.(142-144)agG>agA p.R48R CSF3_ENST00000577675.1_Silent_p.R48R|CSF3_ENST00000225474.2_Silent_p.R52R|CSF3_ENST00000394149.3_Silent_p.R52R|CSF3_ENST00000394148.3_Silent_p.R52R P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 52 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) AGCAAGTGAGGAAGATCCAGG 0.642000 7 13 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028185 119028185 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:119028185G>A ENST00000328252.3 + 8 3151 c.2782G>A c.(2782-2784)Gga>Aga p.G928R PAPPA_ENST00000534838.1_5'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 928 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AACTATTTCAGGAACTGAAGA 0.388000 19 32 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149937753 149937753 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:149937753G>A ENST00000369135.3 - 5 847 c.553C>T c.(553-555)Cct>Tct p.P185S OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 185 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GTTGCCAAAGGAAGCAGCCTC 0.517000 13 24 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765428 18765428 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:18765428C>T ENST00000304081.4 - 5 917 c.817G>A c.(817-819)Gaa>Aaa p.E273K NT5C1B_ENST00000600945.1_Missense_Mutation_p.E333K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E333K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E333K NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATGTACTTTTCCAGACCCTCT 0.552000 56 115 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854670 18854670 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18854670C>T ENST00000447925.2 - 8 1168 c.899G>A c.(898-900)gGa>gAa p.G300E PLCZ1_ENST00000539875.1_Missense_Mutation_p.G109E|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G43E|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G302E|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G165E|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G107E NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 302 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTTTAAGGTTCCTATTTTCTT 0.363000 6 16 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54916148 54916148 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54916148C>T ENST00000545554.1 + 31 6355 c.6355C>T c.(6355-6357)Cag>Tag p.Q2119* UNC13C_ENST00000539562.2_Nonsense_Mutation_p.Q40*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q2117*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q2119* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2119 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGAAACATTTCAGTTGTAAGT 0.403000 42 73 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196794676 196794676 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196794676C>T ENST00000320493.5 + 2 216 c.128C>T c.(127-129)tCc>tTc p.S43F CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Missense_Mutation_p.S43F NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 43 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AAGCCATTTTCCCAGGTTCCT 0.328000 15 5 0 0 1 0 0 FAIM 55179 broad.mit.edu 37 3 138340314 138340314 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:138340314G>A ENST00000338446.4 + 3 829 c.146G>A c.(145-147)gGa>gAa p.G49E FAIM_ENST00000360570.3_Missense_Mutation_p.G37E|FAIM_ENST00000393034.2_Missense_Mutation_p.G15E|FAIM_ENST00000464668.1_Missense_Mutation_p.G15E|FAIM_ENST00000393035.2_Missense_Mutation_p.G15E NM_001033030.1 NP_001028202.1 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule 15 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 TTAAGTGACGGAGTCCACAAG 0.373000 36 40 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304184 115304184 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:115304184C>T ENST00000371906.4 + 3 841 c.651C>T c.(649-651)atC>atT p.I217I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 217 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGAAAAATATCCTTGGTTTTA 0.373000 23 9 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17799571 17799571 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:17799571G>A ENST00000378814.5 - 22 2715 c.2716C>T c.(2716-2718)Ccg>Tcg p.P906S KIF13A_ENST00000259711.6_Missense_Mutation_p.P906S|KIF13A_ENST00000378843.2_Missense_Mutation_p.P906S|KIF13A_ENST00000378826.2_Missense_Mutation_p.P906S|KIF13A_ENST00000378816.5_Missense_Mutation_p.P906S NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 906 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCCACCACCGGGGCAGCCACC 0.502000 12 29 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151451916 151451916 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:151451916G>A ENST00000356517.3 + 1 202 c.93G>A c.(91-93)tgG>tgA p.W31* NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 31 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AAGAAAGCTGGAAAATAATGG 0.378000 16 27 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649475 102649475 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:102649475C>T ENST00000279441.4 - 4 538 c.502G>A c.(502-504)Gga>Aga p.G168R NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 168 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TAAAAGTCTCCATGTTCTGAT 0.378000 25 28 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119445136 119445136 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:119445136G>A ENST00000273390.5 + 7 878 c.801G>A c.(799-801)agG>agA p.R267R NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 AGAAGAGGAGGAAAATGATGA 0.517000 14 20 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177249674 177249674 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:177249674C>T ENST00000361539.4 + 8 1674 c.1362C>T c.(1360-1362)ggC>ggT p.G454G FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 454 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCTGCCAGGGCCCCATCCCAT 0.622000 3 16 0 0 1 0 0 MAFK 7975 broad.mit.edu 37 7 1579986 1579986 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:1579986C>T ENST00000343242.4 + 3 675 c.446C>T c.(445-447)tCc>tTc p.S149F NM_002360.3 NP_002351.1 O60675 MAFK_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K 149 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) TCCTCCACCTCCGTGCCCTTC 0.736000 4 13 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567119 173567119 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:173567119G>A ENST00000367714.3 - 4 703 c.281C>T c.(280-282)tCt>tTt p.S94F SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 94 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGAAAAGTAAGAATAAAGTGA 0.308000 25 31 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115754817 115754817 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:115754817C>T ENST00000264363.2 - 12 3019 c.2341G>A c.(2341-2343)Gaa>Aaa p.E781K NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 781 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTCTGGACTTCATCCATCACA 0.368000 20 34 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9197091 9197091 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:9197091C>T ENST00000327827.7 + 3 955 c.558C>T c.(556-558)ccC>ccT p.P186P NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 186 endometrium(4)|large_intestine(2)|lung(2) 8 ATTTGCAACCCTTCCGGGAAG 0.473000 13 25 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857474 140857474 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140857474C>A ENST00000308177.3 + 1 1895 c.1791C>A c.(1789-1791)gaC>gaA p.D597E PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGGCTGGGACGCGGATGCAG 0.602000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 24 1.5842e-08 1.59709e-08 1 1 0 MED12L 116931 broad.mit.edu 37 3 151085968 151085968 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:151085968C>T ENST00000474524.1 + 23 3412 c.3374C>T c.(3373-3375)gCg>gTg p.A1125V P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A985V NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1125 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGCCTGGGGCGAGAATGACA 0.512000 19 30 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75065573 75065573 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:75065573C>T ENST00000395759.2 + 4 541 c.514C>T c.(514-516)Cat>Tat p.H172Y MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H37Y|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H114Y|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H114Y NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 114 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) AGATGGATTTCATATTATCAA 0.338000 31 64 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645358 167645358 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:167645358C>T ENST00000519204.1 + 22 4217 c.4099C>T c.(4099-4101)Ctc>Ttc p.L1367F TENM2_ENST00000518659.1_Missense_Mutation_p.L1488F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1312F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1249F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1487F teneurin transmembrane protein 2 CACTGGGGTCCTCTACATCAC 0.532000 37 99 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179696318 179696318 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:179696318G>A ENST00000452135.2 - 3 512 c.214C>T c.(214-216)Cgt>Tgt p.R72C MAPK9_ENST00000539014.1_Missense_Mutation_p.R72C|MAPK9_ENST00000393360.3_Missense_Mutation_p.R72C|MAPK9_ENST00000425491.2_Missense_Mutation_p.R72C|MAPK9_ENST00000347470.4_Missense_Mutation_p.R72C|MAPK9_ENST00000455781.1_Missense_Mutation_p.R72C|MAPK9_ENST00000343111.6_Missense_Mutation_p.R72C|MAPK9_ENST00000397072.3_3'UTR P45984 MK09_HUMAN mitogen-activated protein kinase 9 72 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAAGTTCACGATAAGCTCTC 0.348000 28 42 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124929074 124929074 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:124929074C>T ENST00000536616.1 + 2 113 c.75C>T c.(73-75)ctC>ctT p.L25L MORN5_ENST00000373764.3_Silent_p.L25L|MORN5_ENST00000486801.1_3'UTR Q5VZ52 MORN5_HUMAN MORN repeat containing 5 25 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 AGTACATCCTCCCTACCGAAA 0.527000 8 21 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8465562 8465562 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:8465562C>T ENST00000381196.4 - 29 4161 c.3618G>A c.(3616-3618)ggG>ggA p.G1206G PTPRD_ENST00000397606.3_Silent_p.G785G|PTPRD_ENST00000355233.5_Silent_p.G795G|PTPRD_ENST00000397611.3_Silent_p.G792G|PTPRD_ENST00000537002.1_Silent_p.G792G|PTPRD_ENST00000486161.1_Silent_p.G795G|PTPRD_ENST00000358503.5_Silent_p.G1184G|PTPRD_ENST00000356435.5_Silent_p.G1206G|PTPRD_ENST00000397617.3_Silent_p.G785G|PTPRD_ENST00000360074.4_Silent_p.G1193G|PTPRD_ENST00000540109.1_Silent_p.G1206G NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1206 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTTGTCATCCCCCAGGGTGA 0.428000 TSP Lung(15;0.13) 45 77 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95813738 95813738 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:95813738G>A ENST00000416240.2 - 11 1221 c.1031C>T c.(1030-1032)gCc>gTc p.A344V SLC25A13_ENST00000542654.1_Missense_Mutation_p.A235V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A343V NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 343 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) CACAGCAGTGGCTCCAACAGC 0.373000 10 23 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051990 17051990 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:17051990T>C ENST00000418129.2 + 2 1239 c.774T>C c.(772-774)atT>atC p.I258I PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Silent_p.I258I|PLCL2_ENST00000432376.1_Silent_p.I258I NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 384 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCCTTGAAATTATTCACAAAT 0.393000 18 32 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77850847 77850847 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77850847G>A ENST00000302536.2 + 2 416 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 88 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TTGATGGTGCGACAAGGGAAT 0.448000 22 35 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151377497 151377497 + Silent SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151377497T>A ENST00000271715.2 - 19 4328 c.4014A>T c.(4012-4014)tcA>tcT p.S1338S POGZ_ENST00000409503.1_Silent_p.S1329S|POGZ_ENST00000491586.1_Silent_p.S1294S|POGZ_ENST00000392723.1_Silent_p.S1285S|POGZ_ENST00000368863.2_Silent_p.S1243S|POGZ_ENST00000540984.1_Silent_p.S700S|POGZ_ENST00000361398.3_Silent_p.S1285S|POGZ_ENST00000531094.1_Silent_p.S1276S NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1338 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCTTGTAGGTGAGTTAATGT 0.537000 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 46 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413476 178413476 + Silent SNP G G A rs75667861 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:178413476G>A ENST00000231188.5 - 8 1957 c.1779C>T c.(1777-1779)gcC>gcT p.A593A GRM6_ENST00000517717.1_Silent_p.A593A|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 593 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGCCCAGCACGGCCAGGAGGA 0.711000 5 15 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45997990 45997990 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45997990G>A ENST00000245923.4 - 3 588 c.353C>T c.(352-354)tCc>tTc p.S118F PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.S118F|RTN2_ENST00000590526.1_5'UTR NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 118 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) AGGCTCCGGGGATTGGCTCAG 0.697000 23 39 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123858837 123858837 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:123858837C>T ENST00000373855.1 + 6 877 c.617C>T c.(616-618)tCa>tTa p.S206L CNTRL_ENST00000373865.2_Missense_Mutation_p.S206L|CNTRL_ENST00000238341.5_Missense_Mutation_p.S206L Q7Z7A1 CNTRL_HUMAN centriolin 206 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding p.S206L(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AACAAGATATCATCGGTAAGT 0.284000 25 59 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124195386 124195386 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:124195386C>T ENST00000518448.1 + 2 2304 c.290C>T c.(289-291)tCc>tTc p.S97F FAM83A_ENST00000536633.1_Missense_Mutation_p.S97F|FAM83A_ENST00000276699.6_Missense_Mutation_p.S97F|FAM83A_ENST00000522648.1_Missense_Mutation_p.S97F|FAM83A_ENST00000546351.1_Missense_Mutation_p.S97F|FAM83A_ENST00000318462.6_Missense_Mutation_p.S97F Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 97 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGACTGGACTCCAGCTCCCTA 0.677000 91 9 0 0 1 0 0 ADORA2B 136 broad.mit.edu 37 17 15878535 15878535 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:15878535G>A ENST00000304222.2 + 2 1210 c.878G>A c.(877-879)cGg>cAg p.R293Q NM_000676.2 NP_000667.1 P29275 AA2BR_HUMAN adenosine A2b receptor 293 activation of MAPK activity|cellular defense response|excretion|JNK cascade integral to plasma membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 9 UCEC - Uterine corpus endometrioid carcinoma (92;0.0855) Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277) TATGCTTACCGGAACCGAGAC 0.473000 56 85 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155163822 155163822 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:155163822G>A ENST00000357232.3 - 22 5678 c.5679C>T c.(5677-5679)ctC>ctT p.L1893L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1893 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTTCAGAGGGGAGAAAAGCTG 0.393000 25 57 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772150 4772150 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:4772150G>A ENST00000378191.4 + 2 601 c.220G>A c.(220-222)Gtc>Atc p.V74I AJAP1_ENST00000378190.3_Missense_Mutation_p.V74I|AJAP1_ENST00000466761.1_3'UTR NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 74 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.V74F(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GCCAGCGCGGGTCCCGGCCCC 0.761000 6 9 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39722040 39722040 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:39722040G>A ENST00000280082.3 + 5 1855 c.1656G>A c.(1654-1656)tcG>tcA p.S552S RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 161 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATGAAAATTCGAAACCATCAG 0.378000 28 51 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108135770 108135770 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:108135770G>A ENST00000273353.3 - 30 3953 c.3897C>T c.(3895-3897)ttC>ttT p.F1299F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1299 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCTCCGTAGGAACTCGCCTA 0.443000 20 41 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76955544 76955544 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:76955544C>T ENST00000257626.7 - 23 1890 c.1812G>A c.(1810-1812)cgG>cgA p.R604R GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_5'UTR NM_017439.3 NP_059135.2 gamma-secretase activating protein CCATGAGCAGCCGCTGGTGGC 0.517000 31 54 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412371 51412371 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:51412371C>T ENST00000319760.6 - 1 77 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 9 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) AGGACAAATTCTGTAATATTG 0.418000 7 13 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871324 51871324 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:51871324C>T ENST00000371497.5 + 2 2214 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S TSHZ2_ENST00000329613.6_Missense_Mutation_p.P440S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P440S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 443 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTCTCTGGCTCCCAAGCCATC 0.478000 49 115 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44180676 44180676 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:44180676G>A ENST00000357199.4 - 6 793 c.715C>T c.(715-717)Ccc>Tcc p.P239S WFDC8_ENST00000289953.2_Missense_Mutation_p.P239S NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 239 WAP 3. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CAACGTCTGGGGTCCATACAT 0.398000 35 86 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74439610 74439610 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:74439610C>T ENST00000334696.6 - 13 1323 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q ENTPD5_ENST00000557325.1_Missense_Mutation_p.R335Q NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 335 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) GTCAACAGCTCGGTCATAATA 0.527000 59 105 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627452 187627452 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:187627452C>T ENST00000304698.5 + 8 2586 c.2383C>T c.(2383-2385)Ccc>Tcc p.P795S NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 795 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TAATACATCCCCCACTAAAAG 0.478000 17 14 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124914223 124914223 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124914223G>A ENST00000356219.3 - 11 1240 c.1085C>T c.(1084-1086)tCc>tTc p.S362F NCOR2_ENST00000404621.1_Missense_Mutation_p.S361F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S361F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S362F|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.S362F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 362 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCCGACATGGACAGCCCACT 0.662000 4 12 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752719 41752719 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41752719C>T ENST00000352645.4 + 22 2845 c.2588C>T c.(2587-2589)tCc>tTc p.S863F ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S863F NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 879 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CACATCCAGTCCGAGAAGCAC 0.622000 75 75 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28326479 28326479 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:28326479C>A ENST00000373871.3 - 12 1315 c.1075G>T c.(1075-1077)Gac>Tac p.D359Y EYA3_ENST00000373864.1_Missense_Mutation_p.D202Y|EYA3_ENST00000545175.1_Missense_Mutation_p.D306Y|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D233Y|EYA3_ENST00000540618.1_Missense_Mutation_p.D313Y|EYA3_ENST00000373863.3_Missense_Mutation_p.D313Y Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 359 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) ACCTCTAAGTCATTGAAAAAT 0.318000 28 55 1.36615e-20 1.38856e-20 1 1 0 VSIG10 54621 broad.mit.edu 37 12 118506341 118506341 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:118506341C>T ENST00000359236.5 - 8 1684 c.1408G>A c.(1408-1410)Gag>Aag p.E470K NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 470 Glu-rich. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 tcctcctcctcctcctcctcc 0.463000 3 2 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519426 52519426 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52519426T>A ENST00000270649.6 - 5 1969 c.1425A>T c.(1423-1425)agA>agT p.R475S ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTGTATGACATCTCTCATGTT 0.403000 60 94 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040238 31040238 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:31040238C>T ENST00000355537.3 + 4 3859 c.3712C>T c.(3712-3714)Ctt>Ttt p.L1238F NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CAGCCAGGGTCTTCTCCAAGC 0.667000 11 11 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224545 55224545 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55224545G>A ENST00000413439.1 + 0 1769 CAGGGGTCCCGGGTGATGTTG 0.607000 12 18 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41153958 41153958 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41153958C>T ENST00000263413.3 - 15 2508 c.2244G>A c.(2242-2244)ggG>ggA p.G748G C6_ENST00000337836.5_Silent_p.G748G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 748 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.G748G(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCCAGGAATTCCCCTGGCATG 0.473000 11 22 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116339542 116339542 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:116339542G>A ENST00000397752.3 + 2 604 c.404G>A c.(403-405)aGc>aAc p.S135N MET_ENST00000436117.2_Missense_Mutation_p.S135N|MET_ENST00000318493.6_Missense_Mutation_p.S135N NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 135 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGCTGTGGCAGCGTCAACAGA 0.468000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 53 200 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21857904 21857904 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:21857904G>A ENST00000328843.6 + 66 10690 c.10659G>A c.(10657-10659)acG>acA p.T3553T DNAH11_ENST00000409508.3_Silent_p.T3546T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3553 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCGAGGAAACGATAGATCCAG 0.323000 Kartagener syndrome 20 22 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092688 151092688 + Silent SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151092688C>A ENST00000370335.1 + 3 819 c.552C>A c.(550-552)ggC>ggA p.G184G MAGEA4_ENST00000393920.1_Silent_p.G184G|MAGEA4_ENST00000276344.2_Silent_p.G184G|MAGEA4_ENST00000360243.2_Silent_p.G184G|MAGEA4_ENST00000393921.1_Silent_p.G184G|MAGEA4_ENST00000370340.3_Silent_p.G184G|MAGEA4_ENST00000370337.4_Silent_p.G184G P43358 MAGA4_HUMAN melanoma antigen family A, 4 184 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCCTGGGCCTTTCCTATG 0.542000 50 15 2.89935e-36 2.95406e-36 1 1 0 SLC9A7 84679 broad.mit.edu 37 X 46466476 46466476 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:46466476C>T ENST00000328306.4 - 17 2114 c.2089G>A c.(2089-2091)Gaa>Aaa p.E697K SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 697 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 TCCAGCACTTCCTCCGAGCTG 0.602000 17 2 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85997394 85997394 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85997394G>A ENST00000372105.3 - 2 192 c.171C>T c.(169-171)atC>atT p.I57I NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 57 LRRNT. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TGTCCGGGGGGATGGACGCCG 0.667000 31 39 0 0 1 0 0 RLN3 117579 broad.mit.edu 37 19 14141657 14141657 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:14141657G>A ENST00000431365.2 + 2 383 c.326G>A c.(325-327)gGa>gAa p.G109E RLN3_ENST00000585987.1_3'UTR NM_080864.2 NP_543140.1 Q8WXF3 REL3_HUMAN relaxin 3 109 extracellular region hormone activity endometrium(1)|lung(4) 5 AGCTGGCAAGGAACCCCTGGG 0.622000 18 30 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57261476 57261476 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57261476G>A ENST00000278426.3 - 8 1216 c.861C>T c.(859-861)aaC>aaT p.N287N SLC43A1_ENST00000528450.1_Silent_p.N287N|SLC43A1_ENST00000533515.1_5'UTR NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 287 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 TCTCAGGAAGGTTTTCTGAGG 0.567000 OREG0020651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 37 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7550881 7550881 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7550881C>T ENST00000313599.3 - 7 1765 c.1708G>A c.(1708-1710)Gat>Aat p.D570N CD163L1_ENST00000396630.1_Missense_Mutation_p.D570N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D580N Q9NR16 C163B_HUMAN CD163 molecule-like 1 570 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACAATCACATCCTCTCTGTGT 0.398000 45 62 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370816 17370816 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17370816C>T ENST00000252597.3 - 5 831 c.658G>A c.(658-660)Gat>Aat p.D220N USHBP1_ENST00000431146.2_Missense_Mutation_p.D156N NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 220 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AAGAGGGAATCCTGCAGCTCT 0.597000 4 22 0 0 1 0 0 SRGN 5552 broad.mit.edu 37 10 70863851 70863851 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:70863851G>A ENST00000242465.3 + 3 492 c.452G>A c.(451-453)gGa>gAa p.G151E SRGN_ENST00000462445.1_3'UTR NM_002727.2 NP_002718.2 P10124 SRGN_HUMAN serglycin 151 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3) 7 GGTCAACATGGATTAGAAGAG 0.398000 38 62 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25910126 25910126 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:25910126G>A ENST00000398988.3 + 5 1009 c.564G>A c.(562-564)tcG>tcA p.S188S KSR1_ENST00000319524.6_Silent_p.S325S|KSR1_ENST00000509603.2_Silent_p.S325S|KSR1_ENST00000268763.6_Silent_p.S188S NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 323 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ACGTCTCCTCGATGAGGTGAG 0.522000 3 4 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48744965 48744965 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:48744965C>T ENST00000285238.8 + 12 1562 c.1482C>T c.(1480-1482)atC>atT p.I494I ABCC3_ENST00000427699.1_Silent_p.I494I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 494 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGAGTGAGATCCTGAACGGCA 0.582000 18 36 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696397 150696397 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:150696397G>A ENST00000335244.4 - 10 1562 c.1433C>T c.(1432-1434)tCc>tTc p.S478F SLC36A2_ENST00000450886.1_Missense_Mutation_p.S202F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 478 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAGTGGTGGAGTTGGAAAA 0.493000 21 45 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81545838 81545838 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81545838G>A ENST00000548058.1 + 7 1971 c.1061G>A c.(1060-1062)gGa>gAa p.G354E ACSS3_ENST00000548324.1_Missense_Mutation_p.G36E|ACSS3_ENST00000261206.3_Missense_Mutation_p.G353E Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 354 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ATCTGCTATGGACCTCTTCTT 0.303000 17 45 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47912453 47912453 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:47912453G>A ENST00000426837.2 - 15 6231 c.6144C>T c.(6142-6144)ttC>ttT p.F2048F MAP4_ENST00000360240.6_Silent_p.F903F|MAP4_ENST00000264724.11_Silent_p.F638F|MAP4_ENST00000441748.2_Silent_p.F55F|MAP4_ENST00000395734.3_Silent_p.F903F|MAP4_ENST00000383737.4_Silent_p.F631F|MAP4_ENST00000420772.2_Silent_p.F634F P27816 MAP4_HUMAN microtubule-associated protein 4 903 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCTTGTCTATGAAAGGAGTTG 0.622000 20 38 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245176 238245176 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:238245176C>T ENST00000295550.4 - 40 9020 c.e40-1 COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGGAACATTTCTGTTAAGACA 0.388000 22 37 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21752148 21752148 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:21752148G>A ENST00000382254.1 - 15 3169 c.2083C>T c.(2083-2085)Cca>Tca p.P695S CDH12_ENST00000522262.1_Missense_Mutation_p.P655S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.P695S|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 695 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGAGAGTCTGGTTTTATATCC 0.458000 HNSCC(59;0.17) 21 33 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2349414 2349414 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2349414G>A ENST00000301732.5 - 14 2431 c.1731C>T c.(1729-1731)tcC>tcT p.S577S ABCA3_ENST00000382381.3_Silent_p.S519S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 577 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGTGAGCATGGAGAGGGTGG 0.662000 22 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582922 179582922 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179582922C>T ENST00000589042.1 - 86 25035 c.24811G>A c.(24811-24813)Gaa>Aaa p.E8271K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7954K|TTN_ENST00000342992.6_Missense_Mutation_p.E7027K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7954 Ig-like 65. 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) TCCACATGTTCCAGAGGTTCA 0.398000 17 26 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33340583 33340583 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:33340583C>T ENST00000270112.2 + 6 1256 c.896C>T c.(895-897)tCt>tTt p.S299F NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 299 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TTCCTGCGCTCTCTCCTGGAA 0.527000 22 75 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241143 172241143 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172241143C>T ENST00000241261.2 - 1 154 c.32G>A c.(31-33)aGc>aAc p.S11N TNFSF10_ENST00000420541.2_Missense_Mutation_p.S11N NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 11 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTGTCCCAGGCTGGGTCCCCC 0.547000 30 66 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146991928 146991928 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:146991928G>A ENST00000265272.5 - 20 2820 c.2353C>T c.(2353-2355)Cgt>Tgt p.R785C JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R764C|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R743C NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 785 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAAGTCACGAATTCTCTGA 0.299000 9 8 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149520459 149520459 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:149520459C>T ENST00000378016.2 + 0 13277 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) TGCACGCCTCCCTTTGAGTTC 0.662000 33 179 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 731277 731277 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:731277G>A ENST00000565677.1 + 2 676 c.69G>A c.(67-69)aaG>aaA p.K23K STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000564370.1_Silent_p.K23K|STUB1_ENST00000219548.4_Silent_p.K95K Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 95 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) AGTCTGTGAAGGCGCACTTCT 0.632000 7 21 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12876772 12876772 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12876772G>A ENST00000264827.5 - 16 1738 c.1568C>T c.(1567-1569)gCc>gTc p.A523V HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.A523V NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 523 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CTCCTGCAGGGCTTTCTGCAG 0.652000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 41 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682004 100682004 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100682004C>T ENST00000306151.4 + 3 7371 c.7307C>T c.(7306-7308)tCa>tTa p.S2436L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2436 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCAGTTCATCTCCTACA 0.547000 201 415 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541105 55541105 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55541105C>T ENST00000361760.1 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64_L65>LI(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGTGCTTTTTCCTTAGTCACT 0.398000 35 47 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282006 140282006 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:140282006C>T ENST00000458420.3 + 15 2633 c.2443C>T c.(2443-2445)Cat>Tat p.H815Y NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 815 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCAGTCTGTCCATCATCCTGA 0.527000 HNSCC(16;0.037) 44 77 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6588622 6588622 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:6588622G>A ENST00000321612.6 - 13 1811 c.1661C>T c.(1660-1662)cCa>cTa p.P554L NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 554 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AACTACCAGTGGAATCATGCT 0.433000 14 28 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194839 18194839 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:18194839G>A ENST00000314254.3 + 1 456 c.36G>A c.(34-36)ctG>ctA p.L12L RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 12 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GTACAAAACTGACACCAATCA 0.522000 46 96 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048130 180048130 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:180048130C>T ENST00000261937.6 - 14 2221 c.2143G>A c.(2143-2145)Gag>Aag p.E715K FLT4_ENST00000502649.1_Missense_Mutation_p.E715K|FLT4_ENST00000393347.3_Missense_Mutation_p.E715K|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 715 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCAGCCTCTCGTCTTTGTAC 0.657000 17 31 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28225719 28225719 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28225719C>T ENST00000305242.5 - 15 2280 c.2188G>A c.(2188-2190)Gag>Aag p.E730K ARMC4_ENST00000545014.1_Missense_Mutation_p.E255K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E422K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 730 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCTAACCGCTCTTTATTGTCA 0.453000 44 88 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101365135 101365135 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101365135G>A ENST00000392979.3 + 5 764 c.403G>A c.(403-405)Gaa>Aaa p.E135K ANO4_ENST00000538618.1_Missense_Mutation_p.E336K|ANO4_ENST00000392977.3_Missense_Mutation_p.E170K|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 170 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGCCCCATGGGAAGTCCTTGG 0.368000 HNSCC(74;0.22) 35 58 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555383 155555383 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:155555383C>A ENST00000295101.2 + 1 573 c.96C>A c.(94-96)gaC>gaA p.D32E KCNJ3_ENST00000544049.1_Missense_Mutation_p.D32E NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 32 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGGCCAGGACCCTCAGCAGC 0.602000 7 35 8.12818e-05 8.15529e-05 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38691134 38691134 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:38691134G>A ENST00000449981.2 + 3 521 c.412G>A c.(412-414)Gaa>Aaa p.E138K DNAH8_ENST00000359357.3_5'UTR dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAGGCAAGGGAAAGCCGAAG 0.308000 98 18 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039066 29039066 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:29039066T>C ENST00000257189.4 + 5 526 c.443T>C c.(442-444)tTg>tCg p.L148S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 148 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTAAAATTTTGGATATTAAT 0.353000 38 26 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719109 48719109 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:48719109G>A ENST00000294129.2 - 5 822 c.703C>T c.(703-705)Cca>Tca p.P235S NCKIPSD_ENST00000416649.2_Missense_Mutation_p.P228S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.P235S NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 235 Pro-rich.|Ser/Thr-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGAGCCTGGTTCAGATGGG 0.657000 8 5 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155237102 155237102 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:155237102C>T ENST00000357232.3 - 15 3692 c.3693G>A c.(3691-3693)atG>atA p.M1231I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1231 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCTGAGTTTTCATTTCATAAT 0.378000 11 34 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68906550 68906550 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:68906550G>A ENST00000262340.5 - 6 682 c.629C>T c.(628-630)cCa>cTa p.P210L NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 210 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TTGCAGTGGTGGGATCTTTAC 0.373000 25 36 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99315192 99315192 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:99315192C>T ENST00000336374.2 - 5 391 c.389G>A c.(388-390)cGa>cAa p.R130Q NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 130 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CAGCAATGATCGTATTCTCTT 0.398000 17 31 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230271 21230271 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:21230271C>T ENST00000233242.1 - 26 9596 c.9469G>A c.(9469-9471)Ggc>Agc p.G3157S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3157 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCTTCAAGCCTGTTTTTTCC 0.343000 25 59 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40102429 40102429 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:40102429C>T ENST00000181839.4 + 8 3210 c.2605C>T c.(2605-2607)Ccg>Tcg p.P869S CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P869S NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 869 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TTTTAGTCGGCCGTATACTAA 0.383000 104 247 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739228 55739228 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55739228G>A ENST00000370830.3 - 1 1134 c.436C>T c.(436-438)Cat>Tat p.H146Y BMP5_ENST00000446683.2_Missense_Mutation_p.H146Y NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 146 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGGTATCATGGAGGCTGGCT 0.448000 82 56 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088221 92088221 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:92088221G>A ENST00000298047.6 + 1 2960 c.2943G>A c.(2941-2943)ggG>ggA p.G981G FAT3_ENST00000525166.1_Silent_p.G831G|FAT3_ENST00000409404.2_Silent_p.G981G|FAT3_ENST00000541502.1_Silent_p.G981G Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 981 Cadherin 9. 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) ACTATAATGGGAGATTTGAAA 0.458000 TCGA Ovarian(4;0.039) 3 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436191 179436191 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179436191C>T ENST00000589042.1 - 326 74892 c.74668G>A c.(74668-74670)Ggg>Agg p.G24890R TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15825R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23249R|TTN_ENST00000342992.6_Missense_Mutation_p.G22322R|TTN_ENST00000342175.6_Missense_Mutation_p.G16017R|TTN_ENST00000359218.5_Missense_Mutation_p.G15950R|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23249 Fibronectin type-III 81. 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) GTACTCTTCCCATATCTGTTT 0.448000 11 33 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53293738 53293738 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53293738C>T ENST00000552551.1 - 6 1234 c.802G>A c.(802-804)Gag>Aag p.E268K KRT8_ENST00000546897.1_Missense_Mutation_p.E268K|KRT8_ENST00000293308.6_Missense_Mutation_p.E268K|KRT8_ENST00000552150.1_Missense_Mutation_p.E296K P05787 K2C8_HUMAN keratin 8 268 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAATATCCTCGTACTGTGCC 0.587000 18 51 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558339 106558339 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:106558339G>A ENST00000526355.1 - 8 2603 c.2135C>T c.(2134-2136)tCg>tTg p.S712L GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 712 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.S712L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TATTCTCGACGAAGAAAGAGA 0.478000 30 54 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795603 17795603 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:17795603G>A ENST00000380607.4 + 9 1041 c.921G>A c.(919-921)ggG>ggA p.G307G SH3GL2_ENST00000537391.1_Silent_p.G260G NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 307 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AAAATGAAGGGGAGTTGGGAT 0.483000 11 27 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729643 196729643 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196729643G>A ENST00000312428.6 - 41 6836 c.6736C>T c.(6736-6738)Cat>Tat p.H2246Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2246 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 AAAAGCTCATGAAAATCTTCA 0.398000 23 34 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821662 5821662 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:5821662G>A ENST00000381095.3 - 5 1684 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S NLGN4X_ENST00000381092.1_Missense_Mutation_p.P353S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P373S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P353S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P353S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 353 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGGATCTGGGGGTCGTCTGGG 0.582000 19 9 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769975 31769975 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:31769975C>T ENST00000240587.4 - 2 1051 c.724G>A c.(724-726)Gac>Aac p.D242N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 242 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCATGGTTGTCGTCGCGGTAA 0.592000 67 135 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33493245 33493245 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:33493245G>A ENST00000254260.3 - 9 1048 c.1013C>T c.(1012-1014)cCc>cTc p.P338L RHPN2_ENST00000400226.4_Missense_Mutation_p.P187L NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 338 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CCAGGAGTAGGGGATGTTCTC 0.622000 23 59 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276718 75276718 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:75276718G>A ENST00000546196.1 - 2 1848 c.196C>T c.(196-198)Ccg>Tcg p.P66S BCAR1_ENST00000420641.3_Missense_Mutation_p.P113S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P141S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Missense_Mutation_p.P93S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P95S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P113S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P95S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P95S P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 95 actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGGAGGCCGGAGGCGCTGGG 0.677000 21 18 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1036119 1036119 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:1036119C>T ENST00000562958.2 + 5 477 c.444C>T c.(442-444)tcC>tcT p.S148S CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Intron|CNN2_ENST00000263097.4_Intron|CNN2_ENST00000606983.1_Intron Q99439 CNN2_HUMAN calponin 2 130 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding p.?(1) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCCTTTCCCTCACCCAGG 0.647000 7 19 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803387 27803387 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:27803387G>A ENST00000408964.2 + 1 3999 c.3948G>A c.(3946-3948)agG>agA p.R1316R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1316 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTCCTTCTAGGGAATTAGCAG 0.403000 15 21 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639397 53639397 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:53639397G>A ENST00000262135.4 - 24 3684 c.3591C>T c.(3589-3591)atC>atT p.I1197I RPGRIP1L_ENST00000564374.1_Silent_p.I1231I|RPGRIP1L_ENST00000563746.1_Silent_p.I1243I|RPGRIP1L_ENST00000379925.3_Silent_p.I1277I NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1277 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CCATACCATCGATATTTTGCT 0.493000 44 71 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123758578 123758578 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:123758578G>A ENST00000223642.1 - 22 2820 c.2790_splice c.e22-1 p.P931_splice NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 931 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACACCTTCTGGCTAAAATAAA 0.313000 52 93 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958359 121958359 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:121958359C>T ENST00000379692.4 - 4 1293 c.767G>A c.(766-768)gGa>gAa p.G256E NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 256 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 AGAAGGAAATCCAAAGTGGGC 0.478000 13 27 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16377026 16377026 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:16377026C>T ENST00000375679.4 + 11 1095 c.984C>T c.(982-984)tcC>tcT p.S328S CLCNKB_ENST00000375667.3_Silent_p.S159S NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGTGTACTCCGCTCTGGCCA 0.647000 42 91 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299357 58299357 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:58299357G>A ENST00000377918.3 + 4 3435 c.3409G>A c.(3409-3411)Gaa>Aaa p.E1137K NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1137 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGATGCAGAGGAAGTTGTGAG 0.493000 76 156 0 0 1 0 0 RPP21 79897 broad.mit.edu 37 6 30314530 30314530 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:30314530C>T ENST00000436442.2 + 5 418 c.415C>T c.(415-417)Cat>Tat p.H139Y RPP21_ENST00000428040.2_Silent_p.S159S|RPP21_ENST00000433076.2_Silent_p.S144S|RPP21_ENST00000442966.2_Silent_p.S136S|TRIM39-RPP21_ENST00000513556.1_Silent_p.S397S ribonuclease P/MRP 21kDa subunit endometrium(2)|ovary(1)|prostate(1) 4 CAGCCCACTCCATTTCAGACC 0.433000 164 140 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396257 101396257 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:101396257C>T ENST00000372774.3 - 3 296 c.47G>A c.(46-48)gGa>gAa p.G16E TCEAL6_ENST00000372773.1_Missense_Mutation_p.G16E NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 16 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 ttctggctttccctcGTTTTC 0.478000 9 2 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34042401 34042401 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:34042401C>T ENST00000389232.4 + 57 8383 c.8313C>T c.(8311-8313)acC>acT p.T2771T RYR3_ENST00000415757.3_Silent_p.T2771T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2771 4 X approximate repeats. 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) CATATGACACCTTGACTGCCA 0.507000 6 5 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52721287 52721287 + Missense_Mutation SNP G G T rs147047392 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52721287G>T ENST00000394799.2 + 3 272 c.62G>T c.(61-63)aGa>aTa p.R21I GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Missense_Mutation_p.R33I NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 33 Basic (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) CGAAAATTAAGAAAGGAGGCT 0.388000 11 13 4.68919e-08 4.72283e-08 1 1 0 ZNF385D 79750 broad.mit.edu 37 3 21462756 21462756 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21462756G>A ENST00000281523.2 - 8 1656 c.1138C>T c.(1138-1140)Cct>Tct p.P380S NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 380 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATGGGTCCAGGAGCTGGCCGC 0.502000 7 23 0 0 1 0 0 TMEM43 79188 broad.mit.edu 37 3 14174406 14174406 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:14174406C>T ENST00000306077.4 + 6 737 c.483C>T c.(481-483)ttC>ttT p.F161F NM_024334.2 NP_077310.1 Q9BTV4 TMM43_HUMAN transmembrane protein 43 161 endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 GCAAAAACTTCGACCGAGAGA 0.547000 28 49 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7681727 7681727 + Silent SNP C C T rs138204204 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7681727C>T ENST00000572933.1 + 35 6941 c.5481C>T c.(5479-5481)gtC>gtT p.V1827V DNAH2_ENST00000389173.2_Silent_p.V1827V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1827 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCATTGTGGTCAACTGCTCTG 0.597000 10 23 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877615 130877615 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:130877615G>A ENST00000357462.5 - 1 567 c.474C>T c.(472-474)atC>atT p.I158I POTEF_ENST00000360967.5_Silent_p.I158I|POTEF_ENST00000409914.2_Silent_p.I158I|POTEF_ENST00000361163.4_Silent_p.I158I A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 158 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 TGAGCATGACGATGAGATCCT 0.577000 48 22 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217285 150217285 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150217285G>A ENST00000313543.4 + 2 380 c.223G>A c.(223-225)Gac>Aac p.D75N NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 75 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGAGCCTGGACACCACCTG 0.557000 20 18 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348136 180348136 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:180348136C>T ENST00000410066.1 - 6 1136 c.533G>A c.(532-534)gGa>gAa p.G178E ZNF385B_ENST00000336917.5_Missense_Mutation_p.G76E|ZNF385B_ENST00000409692.1_Missense_Mutation_p.G76E|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.G102E NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 178 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) ATGTTTACTTCCTTTGTAGTG 0.453000 24 50 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602402 14602402 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:14602402C>T ENST00000274217.3 + 5 579 c.459C>T c.(457-459)atC>atT p.I153I NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 153 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) GCCAGGGCATCTCTTTTCCAT 0.403000 17 40 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115535566 115535566 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:115535566C>T ENST00000354462.3 + 4 380 c.222C>T c.(220-222)ttC>ttT p.F74F PLEKHS1_ENST00000369309.1_Silent_p.F158F|PLEKHS1_ENST00000361048.1_Silent_p.F344F|PLEKHS1_ENST00000369310.3_Silent_p.F324F|PLEKHS1_ENST00000369312.4_Silent_p.F242F pleckstrin homology domain containing, family S member 1 TGAACGTTTTCCTTTCTCCTC 0.433000 47 54 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412741 124412741 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124412741C>T ENST00000306842.2 - 1 834 c.810G>A c.(808-810)ggG>ggA p.G270G NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGGACACTTTCCCTTGCTCGA 0.433000 23 24 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82875940 82875940 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:82875940G>A ENST00000265077.3 + 14 10587 c.10022G>A c.(10021-10023)gGa>gAa p.G3341E VCAN_ENST00000342785.4_Missense_Mutation_p.G1587E|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G2354E|VCAN_ENST00000502527.2_Missense_Mutation_p.G600E|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.G1539E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3341 Sushi. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CGGTGCTTAGGAAATGGAAGA 0.408000 35 55 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48413594 48413594 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48413594T>A ENST00000249598.1 - 2 1433 c.1274A>T c.(1273-1275)gAg>gTg p.E425V NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 425 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GCACCCACACTCTGCCACGCT 0.607000 6 13 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190738236 190738236 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:190738236G>A ENST00000441310.2 + 12 2721 c.2488G>A c.(2488-2490)Gaa>Aaa p.E830K PMS1_ENST00000409823.3_Missense_Mutation_p.E791K|PMS1_ENST00000418224.3_Missense_Mutation_p.E654K|PMS1_ENST00000447232.2_Missense_Mutation_p.E668K|PMS1_ENST00000432292.3_Missense_Mutation_p.E654K NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 830 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TTCAATTACTGAAAATTACTT 0.269000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 17 22 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73045961 73045961 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73045961G>A ENST00000604411.1 + 0 33922 XIST_ENST00000429829.1_lincRNA NR_003255.2 TAAGCTCAAAGAAGGAAGCTG 0.483000 23 15 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866294 139866294 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:139866294C>T ENST00000370532.2 - 1 429 c.238G>A c.(238-240)Gat>Aat p.D80N NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 80 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAGAAAATCCTTGTCTTCC 0.468000 22 16 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14747031 14747031 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:14747031G>A ENST00000380881.4 - 35 6846 c.6031C>T c.(6031-6033)Cca>Tca p.P2011S FREM1_ENST00000380894.1_Missense_Mutation_p.P546S|FREM1_ENST00000422223.2_Missense_Mutation_p.P2010S|FREM1_ENST00000380880.3_Missense_Mutation_p.P2010S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2010 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAGTTCTTTGGAAATGAGGGC 0.448000 3 11 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27840387 27840387 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:27840387C>T ENST00000318304.8 + 24 2618 c.2335C>T c.(2335-2337)Ctg>Ttg p.L779L PPFIBP1_ENST00000228425.6_Silent_p.L773L|PPFIBP1_ENST00000537927.1_Silent_p.L626L|PPFIBP1_ENST00000542629.1_Silent_p.L748L NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 779 SAM 2. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CATCCAGGTCCTGAGGATCAA 0.448000 46 56 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55933851 55933851 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55933851C>T ENST00000244728.5 - 22 2481 c.2084G>A c.(2083-2085)gGa>gAa p.G695E COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 695 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACCTTTTTTCCTTGAATCCC 0.403000 5 21 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97251387 97251387 + Splice_Site SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:97251387A>T ENST00000389672.5 + 11 2424 c.2386_splice c.e11+1 p.R796_splice EPHA6_ENST00000502694.1_Splice_Site_p.R188_splice|EPHA6_ENST00000514100.1_Splice_Site_p.R188_splice|EPHA6_ENST00000442602.2_Splice_Site_p.R162_splice NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 701 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGTCACCAAAAGTAAGTTACT 0.368000 11 21 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100393 168100393 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168100393G>A ENST00000409195.1 + 9 2580 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 656 actin cytoskeleton organization cell junction actin binding p.E831K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGAAAAGGAAAAAATAAT 0.388000 30 44 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50605624 50605624 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50605624C>T ENST00000444124.2 - 4 569 c.369G>A c.(367-369)ggG>ggA p.G123G DDC_ENST00000357936.5_Silent_p.G123G|DDC_ENST00000431062.1_Silent_p.G123G|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.G123G|DDC_ENST00000489162.1_5'UTR NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 123 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCAGCATCTTCCCGAGCCAGT 0.562000 14 36 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068609 5068609 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5068609C>T ENST00000380370.1 + 1 854 c.854C>T c.(853-855)cCa>cTa p.P285L NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGATTATCCCACCCTCTCTC 0.383000 22 40 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481559 159481559 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:159481559C>T ENST00000389757.3 + 7 898 c.773C>T c.(772-774)cCc>cTc p.P258L PKP4_ENST00000389759.3_Missense_Mutation_p.P258L NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 258 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCTCTGAACCCCAGTGCATAT 0.582000 HNSCC(62;0.18) 15 52 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262348 61262348 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:61262348G>A ENST00000344731.5 + 7 803 c.701G>A c.(700-702)gGg>gAg p.G234E SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 234 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AAAATTCTAGGGATTCCATAT 0.428000 59 46 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75606725 75606725 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75606725C>T ENST00000294638.5 + 5 987 c.323C>T c.(322-324)tCc>tTc p.S108F LHX8_ENST00000356261.3_Missense_Mutation_p.S98F|LHX8_ENST00000559413.1_3'UTR NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 108 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 TGCAGAACCTCCCTAGGAAGG 0.403000 34 65 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30131690 30131690 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:30131690C>T ENST00000376694.4 + 1 698 c.229C>T c.(229-231)Ccg>Tcg p.P77S TRIM15_ENST00000376688.1_Missense_Mutation_p.P77S NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 77 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCCCCTGGGCCCGCTGGGAGA 0.627000 53 11 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236918340 236918340 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:236918340C>T ENST00000366578.4 + 17 2162 c.1996C>T c.(1996-1998)Cag>Tag p.Q666* ACTN2_ENST00000546208.1_Nonsense_Mutation_p.Q160*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q666* NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 666 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCTCCATCCAGATCACAGG 0.557000 33 73 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63476962 63476962 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:63476962G>A ENST00000536984.2 + 3 927 c.233G>A c.(232-234)gGa>gAa p.G78E CDH7_ENST00000397968.2_Missense_Mutation_p.G78E|CDH7_ENST00000323011.3_Missense_Mutation_p.G78E Q9ULB5 CADH7_HUMAN cadherin 7, type 2 78 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTGATAAAGGAGATGGTTCC 0.373000 27 79 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25383959 25383959 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:25383959C>T ENST00000405623.1 - 3 1250 c.795G>A c.(793-795)aaG>aaA p.K265K POMC_ENST00000380794.1_Silent_p.K265K|POMC_ENST00000395826.2_Silent_p.K265K|POMC_ENST00000264708.3_Silent_p.K265K P01189 COLI_HUMAN proopiomelanocortin 265 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CTCACTCGCCCTTCTTGTAGG 0.647000 8 19 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44073845 44073845 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:44073845C>T ENST00000344290.5 + 11 1964 c.1642C>T c.(1642-1644)Ccg>Tcg p.P548S MAPT_ENST00000576518.1_Missense_Mutation_p.P144S|MAPT_ENST00000574436.1_Missense_Mutation_p.P213S|MAPT_ENST00000571987.1_Missense_Mutation_p.P530S|MAPT_ENST00000340799.5_Missense_Mutation_p.P184S|MAPT_ENST00000334239.8_Missense_Mutation_p.P155S|MAPT_ENST00000262410.5_Missense_Mutation_p.P530S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P213S|MAPT_ENST00000446361.3_Missense_Mutation_p.P155S|MAPT_ENST00000431008.3_Missense_Mutation_p.P213S|MAPT_ENST00000351559.5_Missense_Mutation_p.P213S|MAPT_ENST00000420682.2_Missense_Mutation_p.P184S|MAPT_ENST00000415613.2_Missense_Mutation_p.P548S|MAPT_ENST00000347967.5_Missense_Mutation_p.P119S NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 530 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CTCCCGCACCCCGTCCCTTCC 0.677000 11 12 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67039647 67039647 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67039647G>A ENST00000315962.4 + 1 517 c.144G>A c.(142-144)agG>agA p.R48R TRIM55_ENST00000350034.4_Silent_p.R48R|TRIM55_ENST00000276573.7_Silent_p.R48R|TRIM55_ENST00000353317.5_Silent_p.R48R NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 48 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ACCTGTGTAGGAAATGTGCCA 0.448000 220 55 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860187 16860187 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16860187C>T ENST00000524140.2 + 6 1152 c.734C>T c.(733-735)cCg>cTg p.P245L NWD1_ENST00000339803.6_Missense_Mutation_p.P110L|NWD1_ENST00000379808.3_Missense_Mutation_p.P245L|NWD1_ENST00000549814.1_Missense_Mutation_p.P245L|NWD1_ENST00000523826.1_Missense_Mutation_p.P39L|NWD1_ENST00000552788.1_Missense_Mutation_p.P245L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 245 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACCGCCTGCCGTGGAGCCGC 0.602000 21 31 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247184 142247184 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142247184C>T ENST00000390361.3 - 0 321 AGAGACGGATCCCTCAGGCCT 0.572000 33 53 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140165878 140165878 + Translation_Start_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140165878G>A ENST00000504120.2 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I PCDHA1_ENST00000378133.3_Start_Codon_SNP_p.M1I|PCDHA1_ENST00000394633.3_Start_Codon_SNP_p.M1I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTTGCAATGGTGTTTTCTA 0.488000 37 91 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327032 52327032 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52327032G>A ENST00000339223.4 + 2 210 c.31G>A c.(31-33)Gaa>Aaa p.E11K FPR3_ENST00000595991.1_Missense_Mutation_p.E11K NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 11 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TCCTCTGAATGAAACTGAGGA 0.493000 16 15 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716716 39716716 + Missense_Mutation SNP G G A rs140694928 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:39716716G>A ENST00000553728.1 + 4 1151 c.938G>A c.(937-939)gGa>gAa p.G313E MIA2_ENST00000280082.3_Missense_Mutation_p.G313E|MIA2_ENST00000556784.1_Missense_Mutation_p.G312E TTTGGTGGAGGATTTACAAGT 0.403000 37 60 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49896855 49896855 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49896855C>T ENST00000477224.1 - 11 1880 c.1402G>A c.(1402-1404)Gac>Aac p.D468N CAMKV_ENST00000463537.1_Silent_p.R399R|CAMKV_ENST00000296471.7_Missense_Mutation_p.D440N|CAMKV_ENST00000466940.1_Missense_Mutation_p.D394N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D437N|CAMKV_ENST00000467248.1_Missense_Mutation_p.D393N Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 468 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCTGTGCTGTCCGGCTGGGCC 0.647000 25 37 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394773 233394773 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:233394773C>T ENST00000258229.8 - 5 1069 c.835G>A c.(835-837)Gag>Aag p.E279K PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 279 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) ACTGAATTCTCACTCCCCCAC 0.522000 9 22 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539841 55539841 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:55539841C>T ENST00000220676.1 + 4 3547 c.3399C>T c.(3397-3399)ctC>ctT p.L1133L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1133 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGCTTGGCTCTTGGTGCTAA 0.413000 56 19 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160813066 160813066 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:160813066C>T ENST00000283243.7 - 21 3183 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K PLA2R1_ENST00000392771.1_Missense_Mutation_p.E993K NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 993 C-type lectin 6. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCCCCTTCTTCAGCACAGAAA 0.433000 32 52 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284481 43284481 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:43284481C>T ENST00000511537.1 - 0 454 NR_033868.1 AAGAACAACTCCGTCAGTGGA 0.398000 6 14 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557276 157557276 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:157557276C>T ENST00000271532.1 - 5 772 c.637G>A c.(637-639)Gaa>Aaa p.E213K FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 213 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.E213K(1)|p.E213Q(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCTGTGTTTCACAGCTCAGG 0.498000 58 85 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263174 248263174 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248263174C>T ENST00000366478.2 + 3 834 c.497C>T c.(496-498)cCc>cTc p.P166L OR2L13_ENST00000358120.2_Missense_Mutation_p.P166L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 166 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) CTTCATATTCCCTACTGCAGG 0.458000 54 121 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965039 88965039 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:88965039A>C ENST00000333190.4 + 4 3352 c.2743A>C c.(2743-2745)Act>Cct p.T915P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 915 T -> I (in dbSNP:rs56948780). intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAATCAAACACTGCAGAAGG 0.433000 HNSCC(36;0.09) 39 51 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202469 53202469 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53202469C>T ENST00000551956.1 - 5 1492 c.e5+1 KRT4_ENST00000293774.4_Splice_Site|KRT4_ENST00000458244.2_Splice_Site B4DRS2 B4DRS2_HUMAN keratin 4 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 ATACCACCCACCTTGGTCTGG 0.552000 17 41 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177809 7177809 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7177809C>T ENST00000406697.1 + 15 2549 c.1921C>T c.(1921-1923)Ccc>Tcc p.P641S C1S_ENST00000328916.3_Missense_Mutation_p.P641S|C1S_ENST00000360817.5_Missense_Mutation_p.P641S|C1S_ENST00000402681.3_Missense_Mutation_p.P474S P09871 C1S_HUMAN complement component 1, s subcomponent 641 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGTACAGGATCCCAATGACAA 0.532000 56 90 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321518 56321518 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56321518C>T ENST00000443188.1 - 5 1168 c.458G>A c.(457-459)gGa>gAa p.G153E NLRP11_ENST00000592953.1_Missense_Mutation_p.G54E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G153E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G153E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G153E NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 153 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGCTCTCTCTCCCATCAGGAA 0.413000 17 24 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3766858 3766858 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:3766858G>A ENST00000379751.4 - 1 479 c.273C>T c.(271-273)gcC>gcT p.A91A NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 91 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CCGGCAGGCCGGCGGCGCGGA 0.652000 20 50 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160039797 160039797 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160039797C>T ENST00000327245.5 - 18 3635 c.2789G>A c.(2788-2790)aGa>aAa p.R930K NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 930 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTTAACAGTCTGCAGGAATG 0.483000 28 56 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458470 142458470 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142458470C>T ENST00000486171.1 + 2 122 c.105C>T c.(103-105)gtC>gtT p.V35V PRSS1_ENST00000311737.7_Silent_p.V35V P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 35 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGAATTCTGTCCCCTACCAGG 0.527000 101 103 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738691 102738691 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:102738691G>A ENST00000210633.3 + 7 807 c.729G>A c.(727-729)acG>acA p.T243T SEMA4G_ENST00000517724.1_Silent_p.T243T|SEMA4G_ENST00000370250.4_Silent_p.T243T|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 243 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) ACTTCTTCACGGAGCGTGCCA 0.607000 14 26 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028471 102028471 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:102028471C>T ENST00000510508.4 + 1 784 c.638C>T c.(637-639)cCc>cTc p.P213L DIO3_ENST00000359323.3_Missense_Mutation_p.P187L P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 187 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) ACGGACTCTCCCTACATCATC 0.637000 40 63 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455746 62455746 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62455746G>A ENST00000317449.4 - 2 712 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 79 integral to membrane cervix(1)|kidney(1) 2 GGCTGGGCGGGGCTGGAGAGT 0.716000 5 7 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220379 55220379 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55220379C>T ENST00000413439.1 + 0 523 CCTGTGGTTTCTTCCAGGGAC 0.612000 4 6 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135012305 135012305 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:135012305G>A ENST00000304613.3 + 14 2314 c.2293G>A c.(2293-2295)Gcc>Acc p.A765T KNDC1_ENST00000368572.2_Missense_Mutation_p.A765T|KNDC1_ENST00000368571.2_Missense_Mutation_p.A700T Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 765 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCCACCCCAGGCCCCAGCAAA 0.736000 3 7 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49950762 49950762 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49950762C>T ENST00000417270.1 - 3 735 c.42G>A c.(40-42)caG>caA p.Q14Q MON1A_ENST00000455683.2_Silent_p.Q103Q|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.Q103Q|MON1A_ENST00000483022.1_5'UTR Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 6 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTCTCTTCCTCTGCATGTCAG 0.512000 26 29 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534946 96534946 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534946C>T ENST00000371321.3 + 2 382 c.300C>T c.(298-300)ttC>ttT p.F100F CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 100 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GAGGCCATTTCCCACTGGCTG 0.498000 37 80 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879440 196879440 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196879440C>T ENST00000367416.2 + 6 963 c.826C>T c.(826-828)Caa>Taa p.Q276* CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.Q30* NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCCAGAAATTCAACATGGACA 0.333000 7 8 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460166 107460166 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:107460166G>A ENST00000409382.3 - 2 878 c.268C>T c.(268-270)Cat>Tat p.H90Y ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H90Y|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H90Y NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 90 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.H90Y(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGCCCCGCATGAAAGGAACCG 0.627000 7 32 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991364 70991364 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70991364G>A ENST00000256389.3 - 2 505 c.261C>T c.(259-261)ttC>ttT p.F87F RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 37 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CTGGAGAAGTGAAATACTGGG 0.552000 21 33 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567157 4567157 + Missense_Mutation SNP C C T rs145064459 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4567157C>T ENST00000360213.1 + 1 737 c.737C>T c.(736-738)tCt>tTt p.S246F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACATGCGCTTCTCACCTCTGT 0.517000 29 65 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567247 45567247 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:45567247C>T ENST00000588982.1 - 3 733 c.232G>A c.(232-234)Gac>Aac p.D78N ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D78N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D78N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D78N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D78N A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 78 BTB. intracellular nucleic acid binding|zinc ion binding p.D78N(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGGACAAAGTCGATCTCATAG 0.587000 16 44 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166904703 166904703 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:166904703C>T ENST00000271417.3 - 6 770 c.715G>A c.(715-717)Ggg>Agg p.G239R ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G220R|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G239R|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 239 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCTGCTTTCCCTGCTTCATAC 0.582000 6 19 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48335322 48335322 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:48335322C>T ENST00000435803.1 + 21 9005 c.8981C>T c.(8980-8982)cCg>cTg p.P2994L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2994 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGTCCTCGCCGAATCAGCTA 0.393000 16 39 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338648 13338648 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:13338648C>T ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 CAAAGTGATCCTCCACCTTAA 0.483000 21 32 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189329 11189329 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11189329C>T ENST00000382435.4 + 1 933 c.714C>T c.(712-714)ctC>ctT p.L238L NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 238 integral to membrane TGCCAGGCCTCTTTGTGCTGC 0.607000 3 36 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115401232 115401232 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:115401232G>A ENST00000369522.3 + 6 596 c.356G>A c.(355-357)tGg>tAg p.W119* SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W119* NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 119 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAAAAAATGGAAAGTAAGT 0.328000 13 47 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12647717 12647717 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12647717G>A ENST00000425538.1 + 8 1135 c.935G>A c.(934-936)cGa>cAa p.R312Q MYOCD_ENST00000343344.4_Missense_Mutation_p.R312Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R216Q NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 312 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) cagcaacaCCGATTCAGCTAC 0.572000 6 8 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1116088 1116088 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:1116088G>A ENST00000361757.3 - 17 2054 c.1817C>T c.(1816-1818)tCg>tTg p.S606L SBNO2_ENST00000587024.1_Missense_Mutation_p.S596L|SBNO2_ENST00000438103.2_Missense_Mutation_p.S549L NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 606 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 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)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAATTAGCGACAGGAACAC 0.617000 21 37 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029727 71029727 + Nonsense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:71029727T>A ENST00000334414.6 - 2 219 c.175A>T c.(175-177)Aag>Tag p.K59* PTPRB_ENST00000551525.1_Nonsense_Mutation_p.K58*|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.K59* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAAGGAGCTTTTCATCCTCA 0.537000 9 14 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936029 4936029 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4936029G>A ENST00000322013.3 - 1 893 c.865C>T c.(865-867)Cct>Tct p.P289S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCACAGGAGGAAAGAGAAGA 0.493000 15 19 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967931 106967931 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967931C>T ENST00000369066.3 + 2 2111 c.1624C>T c.(1624-1626)Cca>Tca p.P542S NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 542 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAGTGAGTGTCCATCCAGAGT 0.532000 16 8 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579062 58579062 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58579062C>T ENST00000506786.1 + 5 1638 c.1084C>T c.(1084-1086)Cac>Tac p.H362Y ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.H416Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H404Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H428Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H404Y B4DHH9 B4DHH9_HUMAN zinc finger protein 135 416 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCAGAGGACCCACACAGGAGA 0.547000 16 52 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998105 27998105 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:27998105C>T ENST00000441525.1 - 1 1461 c.1347G>A c.(1345-1347)cgG>cgA p.R449R NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 449 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CAAACTCACTCCGGGGGCCAT 0.458000 13 1 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69750933 69750933 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:69750933G>A ENST00000395198.3 - 12 1542 c.1295C>T c.(1294-1296)tCc>tTc p.S432F HERC4_ENST00000373700.4_Missense_Mutation_p.S432F|HERC4_ENST00000412272.2_Missense_Mutation_p.S432F|HERC4_ENST00000277817.6_Missense_Mutation_p.S322F|HERC4_ENST00000395187.2_3'UTR NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 432 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 GCAACCAGAGGAAGAAAACGT 0.244000 15 30 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 77010657 77010657 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:77010657G>A ENST00000257626.7 - 8 619 c.541C>T c.(541-543)Cgt>Tgt p.R181C NM_017439.3 NP_059135.2 gamma-secretase activating protein ACATGGATACGAAATTGTTCA 0.294000 16 28 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390960 89390960 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:89390960C>T ENST00000336596.2 + 5 1251 c.1026C>T c.(1024-1026)atC>atT p.I342I EPHA3_ENST00000452448.2_Silent_p.I342I|EPHA3_ENST00000494014.1_Silent_p.I342I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 342 Fibronectin type-III 1. 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) CCTCAGTTATCCTGGACTGGA 0.413000 TSP Lung(6;0.00050) 27 43 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68788632 68788632 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:68788632C>T ENST00000508048.1 - 7 565 c.530G>A c.(529-531)cGa>cAa p.R177Q TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.R181Q|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R178Q|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 181 cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGGAACAACTCGTTTACCACA 0.413000 24 38 0 0 1 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88926363 88926363 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:88926363G>A ENST00000565504.1 + 4 381 c.357G>A c.(355-357)ggG>ggA p.G119G TRAPPC2L_ENST00000301021.3_Silent_p.G119G|TRAPPC2L_ENST00000567312.1_Silent_p.G89G|TRAPPC2L_ENST00000567895.1_Silent_p.G89G|TRAPPC2L_ENST00000561840.1_Silent_p.G109G|TRAPPC2L_ENST00000568583.1_Silent_p.G119G|TRAPPC2L_ENST00000564365.1_Silent_p.G38G Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 119 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) ACAACCCGGGGGACCGCATCC 0.512000 40 65 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39777124 39777124 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39777124G>A ENST00000540235.1 - 9 1444 c.1445C>T c.(1444-1446)tCc>tTc p.S482F KRT17_ENST00000311208.8_Missense_Mutation_p.S323F P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCCCTCCAGGGATGCTTTCTG 0.622000 26 29 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984133 85984133 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85984133G>A ENST00000372113.4 - 2 853 c.848C>T c.(847-849)tCc>tTc p.S283F LRIT2_ENST00000538192.1_Missense_Mutation_p.S283F NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 283 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCATGCAATGGATGGTGAGGG 0.532000 17 39 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306874 54306874 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54306874G>A ENST00000545554.1 + 1 1774 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K UNC13C_ENST00000537900.1_Missense_Mutation_p.E592K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E592K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 592 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGGAAACAGGAAGGAACAGC 0.458000 10 35 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35247658 35247658 + Splice_Site SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:35247658A>C ENST00000381318.3 + 34 4462 c.4173_splice c.e34-1 p.I1392_splice ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Splice_Site_p.I1387_splice|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Splice_Site_p.I1392_splice NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1392 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCCTGTGTAGATCCTGGAAAA 0.592000 24 30 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143515 56143515 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56143515G>A ENST00000302270.1 + 1 416 c.416G>A c.(415-417)gGa>gAa p.G139E NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) ATGACTCCAGGAATCTGCATT 0.443000 17 54 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50256544 50256544 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:50256544G>A ENST00000332853.3 - 6 777 c.754C>T c.(754-756)Cct>Tct p.P252S NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 252 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 ACTGCGGGAGGAATGTCAGGC 0.527000 19 65 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40947807 40947807 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40947807C>T ENST00000313164.9 + 8 1201 c.842C>T c.(841-843)tCc>tTc p.S281F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 281 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAGGAGCTTTCCCACCTCCCC 0.448000 16 28 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26589877 26589877 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26589877G>A ENST00000376261.3 + 16 2248 c.1745G>A c.(1744-1746)gGa>gAa p.G582E GAD2_ENST00000259271.3_Missense_Mutation_p.G582E NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 582 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAACGCCTTGGACAAGATTTA 0.418000 30 45 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51735315 51735315 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:51735315A>G ENST00000371117.3 - 47 7748 c.7473T>C c.(7471-7473)tgT>tgC p.C2491C PKHD1_ENST00000340994.4_Silent_p.C2491C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2491 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTCCTTGGGAACAGTCTGAAC 0.353000 18 79 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703912 18703912 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:18703912G>A ENST00000251296.1 + 9 1703 c.1320G>A c.(1318-1320)acG>acA p.T440T NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 440 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CAAGAGGAACGGAGGACTCTA 0.483000 37 58 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371693 76371693 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:76371693G>T ENST00000407242.2 - 3 1186 c.944C>A c.(943-945)tCc>tAc p.S315Y LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.S315Y|LRRC32_ENST00000404995.1_Missense_Mutation_p.S315Y|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 315 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAAGAGCTGGGAAAGGGGGCG 0.617000 5 14 0.0215528 0.0215733 1 1 0 PTPRN2 5799 broad.mit.edu 37 7 157873990 157873990 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157873990C>T ENST00000389413.3 - 10 1739 c.1636_splice c.e10+1 p.V546_splice PTPRN2_ENST00000389418.4_Splice_Site_p.V575_splice|PTPRN2_ENST00000389416.4_Splice_Site_p.V558_splice|PTPRN2_ENST00000409483.1_Splice_Site_p.V537_splice|PTPRN2_ENST00000404321.2_Splice_Site_p.V598_splice NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 575 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACAGCCTCACCTGTGGCCTTC 0.532000 17 67 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570050 22570050 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:22570050C>T ENST00000510882.2 + 1 256 c.246C>T c.(244-246)atC>atT p.I82I HDGFL1_ENST00000230012.3_Silent_p.I82I Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 82 kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TGTGGGAAATCGAGAACAACC 0.652000 13 4 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69681168 69681168 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:69681168C>T ENST00000349945.1 + 5 1761 c.209C>T c.(208-210)cCa>cTa p.P70L NFAT5_ENST00000567239.1_Missense_Mutation_p.P164L|NFAT5_ENST00000432919.1_Missense_Mutation_p.P164L|NFAT5_ENST00000393742.2_Missense_Mutation_p.P70L|NFAT5_ENST00000354436.2_Missense_Mutation_p.P146L|NFAT5_ENST00000566899.1_Missense_Mutation_p.P70L NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 146 Ser-rich. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TACATCTCACCACCACCTGAG 0.507000 35 54 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1993429 1993429 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1993429C>T ENST00000382722.5 - 12 1693 c.1331G>A c.(1330-1332)tGg>tAg p.W444* CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W380*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W444*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W444*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W380*|CACNA2D4_ENST00000585732.1_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 444 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GCATGCAATCCACTTCATGCG 0.542000 11 16 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202128589 202128589 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:202128589G>A ENST00000367279.4 - 1 530 c.59C>T c.(58-60)tCt>tTt p.S20F PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron NM_080588.2 NP_542155.1 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 0 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CTGCCTGAAAGACAGGGCCCT 0.637000 18 23 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143386 55143386 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55143386G>A ENST00000396331.1 + 6 716 c.358_splice c.e6-1 p.G120_splice LILRB1_ENST00000448689.1_Splice_Site_p.G120_splice|LILRB1_ENST00000418536.2_Splice_Site_p.G120_splice|LILRB1_ENST00000324602.7_Splice_Site_p.G120_splice|LILRB1_ENST00000396332.4_Splice_Site_p.G120_splice|LILRB1_ENST00000427581.2_Splice_Site_p.G156_splice|LILRB1_ENST00000396315.1_Splice_Site_p.G120_splice|LILRB1_ENST00000396317.1_Splice_Site_p.G120_splice|LILRB1_ENST00000396321.2_Splice_Site_p.G120_splice|LILRB1_ENST00000434867.2_Splice_Site_p.G120_splice|LILRB1_ENST00000396327.3_Splice_Site_p.G120_splice NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 120 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTCTCCTAGGAGCCTACATC 0.607000 HNSCC(37;0.09) 44 71 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498710 118498710 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:118498710C>T ENST00000361417.2 + 7 1582 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S PHLDB1_ENST00000356063.5_Missense_Mutation_p.P391S NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 391 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGTCCCTGCTCCCCGAAACAA 0.607000 53 116 0 0 1 0 0 IGFBP6 3489 broad.mit.edu 37 12 53495840 53495840 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53495840C>T ENST00000548547.1 + 4 888 c.606C>T c.(604-606)tcC>tcT p.S202S IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Silent_p.S204S P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 204 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GCCGCTCCTCCCAGGGGCAGC 0.612000 17 37 0 0 1 0 0 MIR520E 574461 broad.mit.edu 37 19 54178988 54178988 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:54178988G>A ENST00000384867.1 + 0 24 NR_030183.1 CCCTCAAGATGGAAGCAGTTT 0.433000 14 33 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170151151 170151151 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:170151151C>T ENST00000263816.3 - 5 782 c.497G>A c.(496-498)tGg>tAg p.W166* LRP2_ENST00000443831.1_Nonsense_Mutation_p.W166* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 166 LDL-receptor class A 4. 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) ATCAACTTTCCAATCACACTT 0.393000 22 40 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754666 141754666 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:141754666C>T ENST00000475668.2 + 27 3326 c.3272C>T c.(3271-3273)cCa>cTa p.P1091L MGAM_ENST00000549489.2_Missense_Mutation_p.P1091L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1091 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGAAGAATCCATTTGGGATT 0.488000 30 121 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102787 13102787 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:13102787G>A ENST00000228887.1 - 1 531 c.532C>T c.(532-534)Ctc>Ttc p.L178F RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.L178F|RP11-392P7.6_ENST00000394742.3_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 178 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ATCAGGAAGAGGACATAGACC 0.488000 17 28 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025340 176025340 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176025340G>A ENST00000303991.4 - 2 1673 c.1496C>T c.(1495-1497)tCc>tTc p.S499F NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 499 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) TGTCCCCAAGGACCTGGGATC 0.552000 23 43 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67939074 67939074 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:67939074C>T ENST00000252336.6 + 6 1855 c.1483C>T c.(1483-1485)Cgt>Tgt p.R495C STARD8_ENST00000374599.3_Missense_Mutation_p.R575C|STARD8_ENST00000374597.3_Missense_Mutation_p.R495C NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 495 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CAGGAAGCTCCGTTGGCATAG 0.562000 12 4 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776681 13776681 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13776681C>T ENST00000265104.4 - 55 9344 c.9240G>A c.(9238-9240)caG>caA p.Q3080Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3080 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATGAAGGTTCTGTCGGACCC 0.468000 Kartagener syndrome 24 32 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576716 115576716 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:115576716T>A ENST00000256592.1 + 3 353 c.285T>A c.(283-285)ttT>ttA p.F95L TSHB_ENST00000369517.1_Missense_Mutation_p.F95L NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 95 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CTCCCTATTTTTCCTATCCTG 0.428000 74 129 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51129274 51129274 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51129274C>T ENST00000338916.4 - 5 1915 c.1281_splice c.e5-1 p.E428_splice SYT3_ENST00000600079.1_Splice_Site_p.E428_splice|SYT3_ENST00000593901.1_Splice_Site_p.E428_splice|SYT3_ENST00000544769.1_Splice_Site_p.E428_splice NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 428 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCTGCTTTTTCCTGCAGTTGG 0.547000 13 17 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55033569 55033569 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:55033569C>T ENST00000371336.3 + 6 2328 c.2127C>T c.(2125-2127)gtC>gtT p.V709V CASS4_ENST00000360314.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 709 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCAAGCTGGTCATCATGGTGG 0.617000 38 75 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14748562 14748562 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:14748562G>A ENST00000380881.4 - 32 6451 c.5636C>T c.(5635-5637)cCc>cTc p.P1879L FREM1_ENST00000380894.1_Missense_Mutation_p.P414L|FREM1_ENST00000422223.2_Missense_Mutation_p.P1878L|FREM1_ENST00000380880.3_Missense_Mutation_p.P1878L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1878 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGACCCTGGGGGCAGCAGATG 0.537000 75 149 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55119800 55119800 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:55119800G>A ENST00000414150.2 + 3 1479 c.1201G>A c.(1201-1203)Gac>Aac p.D401N MROH7_ENST00000421030.2_Missense_Mutation_p.D401N|MROH7_ENST00000395690.2_Missense_Mutation_p.D401N|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D401N|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron maestro heat-like repeat family member 7 CGCAGGCAAGGACGCCGTGAC 0.597000 7 8 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182757 103182757 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:103182757C>T ENST00000375735.2 + 79 11788 c.11644C>T c.(11644-11646)Cct>Tct p.P3882S DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3889S|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3882 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAACTATATTCCTCAGGTAAG 0.363000 20 44 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428785 139428785 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:139428785C>T ENST00000272641.3 - 2 608 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 168 III. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) ACTTCAAATTCCACCACCTTG 0.458000 8 14 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620638 46620638 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:46620638C>T ENST00000330070.4 - 2 2030 c.863G>A c.(862-864)gGg>gAg p.G288E NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 288 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TGGCAATGGCCCGGGCTCCAG 0.692000 4 8 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56230884 56230884 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:56230884G>A ENST00000394182.1 - 4 604 c.605C>T c.(604-606)cCc>cTc p.P202L MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.P488L|MMP19_ENST00000548629.1_Missense_Mutation_p.P465L Q99542 MMP19_HUMAN matrix metallopeptidase 19 488 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 CGTACCTGAGGGAGTGGTATT 0.498000 83 165 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42873925 42873925 + Nonsense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:42873925C>A ENST00000025301.2 + 8 1218 c.1043C>A c.(1042-1044)tCa>tAa p.S348* NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 348 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATAGAGGATTCAGACTCAGAA 0.348000 9 18 7.48243e-07 7.5289e-07 1 1 0 B4GALT5 9334 broad.mit.edu 37 20 48263558 48263558 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:48263558G>A ENST00000371711.4 - 3 495 c.308C>T c.(307-309)cCt>cTt p.P103L NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 103 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GAAGTCTTCAGGAAGAAATGT 0.438000 41 91 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197535 32197535 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:32197535C>T ENST00000375250.5 - 3 490 c.249G>A c.(247-249)caG>caA p.Q83Q ARHGAP12_ENST00000344936.2_Silent_p.Q83Q|ARHGAP12_ENST00000311380.4_Silent_p.Q83Q|ARHGAP12_ENST00000396144.4_Silent_p.Q83Q|ARHGAP12_ENST00000375245.4_Silent_p.Q83Q NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 83 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GACCAGCTACCTGCTTAACAG 0.458000 11 30 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41427717 41427717 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:41427717C>T ENST00000400454.1 - 29 5447 c.4970G>A c.(4969-4971)cGa>cAa p.R1657Q NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1657 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GATGTGCATTCGCAGGGTCTG 0.448000 59 116 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090748 9090748 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9090748G>A ENST00000397910.4 - 1 1270 c.1067C>T c.(1066-1068)tCc>tTc p.S356F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 356 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 CTGCTTTGTGGATATTGATGG 0.483000 12 23 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962208 151962208 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:151962208G>A ENST00000355193.2 - 8 1317 c.1099C>T c.(1099-1101)Cat>Tat p.H367Y KMT2C_ENST00000262189.6_Missense_Mutation_p.H367Y lysine (K)-specific methyltransferase 2C p.H367Y(2) CACATTCCATGATAGTGCTGA 0.448000 49 504 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633403 39633403 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39633403G>A ENST00000246639.2 - 7 1315 c.1183C>T c.(1183-1185)Ccc>Tcc p.P395S KRT35_ENST00000393989.1_Missense_Mutation_p.P425S Q92764 KRT35_HUMAN keratin 35 425 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GGAAGACAGGGAAGGCATGAC 0.562000 19 33 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065638 73065638 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73065638G>A ENST00000429829.1 - 0 6950 NR_001564.2 GGAAGGGAAAGGAAGACTGGG 0.498000 10 8 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901894 40901894 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40901894C>T ENST00000324001.7 - 7 2635 c.2365G>A c.(2365-2367)Gca>Aca p.A789T PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 789 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCTGTTCTGCCTTGGTGGCC 0.597000 41 76 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274237 103274237 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103274237G>A ENST00000233969.2 + 2 646 c.504G>A c.(502-504)acG>acA p.T168T NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 168 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ACATTGGCACGATTTTCTGGT 0.488000 97 178 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124190000 124190000 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124190000G>A ENST00000357438.2 - 1 184 c.94C>T c.(94-96)Ctt>Ttt p.L32F NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TATATTCCAAGGAACAGGAGG 0.458000 42 53 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066020 73066020 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73066020G>A ENST00000429829.1 - 0 6568 NR_001564.2 ACCAGGCCAGGAAAAAGGGCC 0.498000 29 17 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140777335 140777335 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:140777335G>A ENST00000371372.1 + 3 675 c.530_splice c.e3+1 p.G177_splice CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Splice_Site_p.G177_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.G177_splice|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Splice_Site_p.G177_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.G177_splice NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 177 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTCCTCACAGGGTAGGCAAGC 0.622000 22 133 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45997989 45997989 + Silent SNP G G A rs146872063 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45997989G>A ENST00000245923.4 - 3 589 c.354C>T c.(352-354)tcC>tcT p.S118S PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.S118S|RTN2_ENST00000590526.1_5'UTR NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 118 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CAGGCTCCGGGGATTGGCTCA 0.697000 22 40 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196801025 196801025 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196801025G>A ENST00000320493.5 + 6 977 c.889G>A c.(889-891)Gaa>Aaa p.E297K CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.E238K NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 297 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TGAATCAGCTGAATTTGTGTG 0.398000 51 27 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801193 185801193 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:185801193G>A ENST00000302277.6 + 4 1664 c.1070G>A c.(1069-1071)gGa>gAa p.G357E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 357 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GAGTTGTTAGGAAATAAATCC 0.368000 9 33 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94487012 94487012 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:94487012C>T ENST00000375708.3 - 9 1962 c.1764G>A c.(1762-1764)gaG>gaA p.E588E ROR2_ENST00000375715.1_Silent_p.E448E|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 588 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGTCGGGGGGCTCCAGGGCGG 0.647000 21 10 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25600813 25600813 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:25600813T>A ENST00000329474.6 + 33 3759 c.3391T>A c.(3391-3393)Tcc>Acc p.S1131T NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1131 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 AACACCTGACTCCTTTGAAGA 0.552000 12 41 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100552570 100552570 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:100552570C>T ENST00000397112.4 - 0 1600 NR_036632.1 large_intestine(1)|lung(3) 4 GAGCAGTCTCCGGTACCTTCC 0.562000 10 14 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795656 15795656 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15795656G>A ENST00000550308.1 + 8 1329 c.949G>A c.(949-951)Gat>Aat p.D317N CYP4F12_ENST00000324632.9_Missense_Mutation_p.D317N NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTCAGATGAGGATATAAGAGC 0.498000 20 47 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11630129 11630129 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:11630129C>T ENST00000423059.3 - 4 1662 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 471 TSP type-1 4. integral to membrane p.E471K(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGAGGTTTTCGTTGGCCTGC 0.522000 HNSCC(18;0.044) 9 37 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119732133 119732133 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:119732133G>A ENST00000541757.1 + 7 751 c.371G>A c.(370-372)gGa>gAa p.G124E MARCO_ENST00000327097.4_Missense_Mutation_p.G202E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 202 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.G202A(1) 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 GGAGTCAAGGGAGAGGCGGGT 0.567000 7 18 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98187204 98187204 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:98187204C>T ENST00000370192.3 - 5 445 c.345G>A c.(343-345)atG>atA p.M115I DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.M115I|DPYD_ENST00000423006.2_Missense_Mutation_p.M78I NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 115 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGAAAATATCATCTTAGCAG 0.333000 21 50 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121379428 121379428 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:121379428G>A ENST00000297848.3 + 46 5366 c.5096G>A c.(5095-5097)gGa>gAa p.G1699E COL14A1_ENST00000247781.3_Missense_Mutation_p.G1604E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1699E NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1699 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGTATCAAAGGAGAAAAAGGA 0.368000 30 9 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226273727 226273727 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:226273727G>A ENST00000272907.6 + 2 544 c.131G>A c.(130-132)cGa>cAa p.R44Q NYAP2_ENST00000409269.2_Missense_Mutation_p.R44Q NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 44 GATATTGCTCGAGAGAATGAT 0.408000 13 33 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 16 30 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174573 63174573 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:63174573G>A ENST00000322893.7 - 11 2888 c.2620C>T c.(2620-2622)Cgt>Tgt p.R874C KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 874 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) TTATCCAAACGAAGGTCACTT 0.507000 25 52 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33329591 33329591 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:33329591G>A ENST00000374796.2 - 12 7039 c.4469C>T c.(4468-4470)tCg>tTg p.S1490L NCOA6_ENST00000359003.2_Missense_Mutation_p.S1490L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1490 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTGACTTAACGATGTTGGTGC 0.473000 29 42 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57587368 57587368 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:57587368G>C ENST00000243077.3 + 47 8170 c.7704G>C c.(7702-7704)aaG>aaC p.K2568N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2568 LDL-receptor class A 12. 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) GCTGCAAGAAGACTTTCCGGC 0.607000 3 38 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210012343 210012343 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:210012343C>T ENST00000491415.2 + 7 1209 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 384 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AGAAGAAAATCATTGTGAGCA 0.502000 31 63 0 0 1 0 0 CST4 1472 broad.mit.edu 37 20 23669535 23669535 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:23669535C>T ENST00000217423.3 - 1 142 c.72G>A c.(70-72)aaG>aaA p.K24K NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 24 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TATTCTCCTCCTTGGAGCTCG 0.572000 18 44 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515104 56515104 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56515104C>T ENST00000390649.3 + 2 85 c.85C>T c.(85-87)Cct>Tct p.P29S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 29 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCCACAGGTCCTACTTGCTC 0.428000 15 37 0 0 1 0 0 TRGV2 6974 broad.mit.edu 37 7 38402961 38402961 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:38402961G>A ENST00000426402.2 - 0 158 GAAGGAAAGGGACCAGATGAA 0.537000 13 20 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112661 81112661 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81112661C>T ENST00000228644.3 + 3 751 c.599C>T c.(598-600)tCc>tTc p.S200F NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 200 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GATAAAAACTCCTTATCCAGC 0.418000 17 57 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461704 50461704 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50461704C>T ENST00000447370.2 - 8 1577 c.1487G>A c.(1486-1488)gGg>gAg p.G496E SIGLEC11_ENST00000426971.2_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 496 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ACTGCTGTTCCCCTCCAGCAG 0.701000 6 11 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20490545 20490545 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:20490545C>T ENST00000346618.3 + 7 1348 c.1282C>T c.(1282-1284)Ccc>Tcc p.P428S E2F3_ENST00000535432.1_Missense_Mutation_p.P297S NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 428 Transactivation (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) CTTACTGCCTCCCCTGCTGCA 0.537000 40 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179486272 179486272 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179486272G>A ENST00000589042.1 - 245 45503 c.45279C>T c.(45277-45279)caC>caT p.H15093H TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.H6028H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.H13452H|TTN_ENST00000342992.6_Silent_p.H12525H|TTN_ENST00000342175.6_Silent_p.H6220H|TTN_ENST00000359218.5_Silent_p.H6153H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13452 Fibronectin type-III 9. 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) CATCCTCAAGGTGAGCGTTCT 0.418000 13 24 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50157994 50157994 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50157994C>T ENST00000360565.3 + 9 3609 c.3485C>T c.(3484-3486)tCc>tTc p.S1162F NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1162 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCTGGCCCCTCCAGCTACCTG 0.677000 33 55 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141299440 141299440 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141299440T>C ENST00000389484.3 - 44 8266 c.7295A>G c.(7294-7296)aAc>aGc p.N2432S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2432 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) TGTGTACTTGTTGGACCGCAG 0.428000 TSP Lung(27;0.18) 35 71 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103206742 103206742 + Missense_Mutation SNP C C T rs114306581 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:103206742C>T ENST00000424685.2 - 33 5024 c.4865G>A c.(4864-4866)cGa>cAa p.R1622Q RELN_ENST00000343529.5_Missense_Mutation_p.R1622Q|RELN_ENST00000428762.1_Missense_Mutation_p.R1622Q P78509 RELN_HUMAN reelin 1622 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCTTGGATTCGATACCAGTT 0.378000 29 42 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805720 50805720 + Missense_Mutation SNP G G A rs80338915 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:50805720G>A ENST00000263046.4 + 6 1047 c.881G>A c.(880-882)cGa>cAa p.R294Q TFAP2B_ENST00000393655.3_Missense_Mutation_p.R285Q Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 285 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AGATCTTTGCGAGAAAGGCTA 0.438000 79 110 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588393 247588393 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247588393C>T ENST00000366497.2 + 4 2428 c.1648C>T c.(1648-1650)Cgt>Tgt p.R550C NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R550C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R550C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R550C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R550C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R550C NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 550 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCAGGGAGTCGTTTGAAGCT 0.473000 10 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433331 179433331 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179433331C>T ENST00000589042.1 - 326 77752 c.77528G>A c.(77527-77529)aGa>aAa p.R25843K TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16778K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24202K|TTN_ENST00000342992.6_Missense_Mutation_p.R23275K|TTN_ENST00000342175.6_Missense_Mutation_p.R16970K|TTN_ENST00000359218.5_Missense_Mutation_p.R16903K|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24202 Fibronectin type-III 88. 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) AACATTGATTCTTGTGGTCTG 0.423000 35 72 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538448 39538448 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39538448G>A ENST00000394001.1 - 1 207 c.177C>T c.(175-177)tcC>tcT p.S59S NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 59 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGGGCCGGGAGGAGCAGCTGG 0.622000 20 30 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128429119 128429119 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:128429119C>T ENST00000465342.2 + 2 2165 c.1008C>T c.(1006-1008)gtC>gtT p.V336V CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.V336V Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 336 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 ACTCCTCAGTCCCTTTCCCTG 0.587000 11 0 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141421 63141421 + Missense_Mutation SNP C C T rs150640442 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63141421C>T ENST00000310969.4 + 3 830 c.562C>T c.(562-564)Ccc>Tcc p.P188S SLC22A9_ENST00000279178.3_Silent_p.C239C Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 0 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TGGGAATGTGCCCTTCTGGTA 0.478000 12 43 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10906979 10906979 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:10906979G>A ENST00000298232.7 - 23 1895 c.1528C>T c.(1528-1530)Cca>Tca p.P510S TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P528S|TPTE_ENST00000342420.5_Missense_Mutation_p.P490S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 528 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATCTGATGGATAAATTCTC 0.368000 12 74 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100519 17100519 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17100519G>A ENST00000443236.1 - 13 1501 c.1470C>T c.(1468-1470)tcC>tcT p.S490S CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 443 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCTGCCGAGGGAGAGGTAGC 0.597000 19 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595517 179595517 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179595517G>A ENST00000589042.1 - 61 17967 c.17743C>T c.(17743-17745)Ctt>Ttt p.L5915F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L5598F|TTN_ENST00000342992.6_Missense_Mutation_p.L4671F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5598 Ig-like 40. 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) GGTATGATAAGATCTATTCAA 0.313000 15 41 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19036100 19036100 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:19036100G>A ENST00000263196.7 - 7 1106 c.859C>T c.(859-861)Cct>Tct p.P287S DGCR2_ENST00000537045.1_Missense_Mutation_p.P246S|DGCR2_ENST00000545799.1_3'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 287 VWFC. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) TCCCCCTTAGGGGTGAAGTAG 0.527000 298 235 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91647655 91647655 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:91647655C>T ENST00000518868.1 + 11 1546 c.856C>T c.(856-858)Cct>Tct p.P286S C14orf159_ENST00000428926.2_Missense_Mutation_p.P281S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P286S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P269S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P157S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P281S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P286S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P281S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P281S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P286S Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 281 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TTCCCAAGATCCTCTGCACTA 0.498000 12 44 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4131033 4131033 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:4131033C>T ENST00000465828.1 - 3 475 c.190G>A c.(190-192)Gac>Aac p.D64N ECI2_ENST00000380118.3_Missense_Mutation_p.D94N|ECI2_ENST00000361538.2_Missense_Mutation_p.D64N|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.D64N|C6orf201_ENST00000380175.4_3'UTR O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 94 ACB. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 TTCCATGCGTCCCATTTGGCC 0.448000 60 206 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43440216 43440216 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:43440216G>A ENST00000282041.5 - 40 6896 c.6862C>T c.(6862-6864)Ctt>Ttt p.L2288F EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2288 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTGCCCCGAAGGAACTCTGCT 0.567000 30 97 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9172244 9172244 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:9172244G>A ENST00000328194.3 - 14 2909 c.2589C>T c.(2587-2589)tcC>tcT p.S863S DENND5A_ENST00000530044.1_Silent_p.S863S|DENND5A_ENST00000527700.1_Silent_p.S206S NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 863 RUN 1. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTGAATCAGGGAGATCCTCA 0.433000 16 53 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54320183 54320183 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:54320183C>T ENST00000231009.2 + 1 103 c.33C>T c.(31-33)ttC>ttT p.F11F CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 11 proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCTGTTTTTCCTAATAGTTG 0.303000 12 23 0 0 1 0 0 EREG 2069 broad.mit.edu 37 4 75246812 75246812 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:75246812G>A ENST00000244869.2 + 3 402 c.236G>A c.(235-237)gGa>gAa p.G79E NM_001432.2 NP_001423.1 O14944 EREG_HUMAN epiregulin 79 EGF-like. angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) TGTTTGCATGGACAGTGCATC 0.373000 52 103 0 0 1 0 0 IGLV5-37 28783 broad.mit.edu 37 22 22782361 22782361 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:22782361G>A ENST00000390300.2 + 0 364 ATTTGGCCAAGCAATGCTTCT 0.408000 163 125 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51507024 51507024 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51507024G>T ENST00000376832.4 - 4 572 c.539C>A c.(538-540)cCt>cAt p.P180H CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.P180H|KLK9_ENST00000250366.6_Missense_Mutation_p.P180H NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 180 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GATGTGTCCAGGGTATGCCCA 0.572000 3 67 1 1 1 1 0 ADORA2A 135 broad.mit.edu 37 22 24836677 24836677 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24836677G>A ENST00000337539.7 + 3 918 c.459G>A c.(457-459)aaG>aaA p.K153K ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 153 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) AGGAGGGCAAGAACCACTCCC 0.572000 226 181 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27492429 27492429 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:27492429G>A ENST00000356183.4 - 27 4182 c.4167C>T c.(4165-4167)atC>atT p.I1389I GTF3C1_ENST00000561623.1_Silent_p.I1389I NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1389 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGTGTCTGGGATTTCAAGGT 0.483000 31 56 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128363492 128363492 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:128363492A>G ENST00000389524.4 + 20 2466 c.2413A>G c.(2413-2415)Aat>Gat p.N805D MYO7B_ENST00000428314.1_Missense_Mutation_p.N805D|MYO7B_ENST00000409816.2_Missense_Mutation_p.N805D Q6PIF6 MYO7B_HUMAN myosin VIIB 805 IQ 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAACAGGAGGAATTTCAAGCT 0.557000 12 17 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51129154 51129154 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51129154C>T ENST00000338916.4 - 5 2035 c.1402_splice c.e5+1 p.D468_splice SYT3_ENST00000600079.1_Splice_Site_p.D468_splice|SYT3_ENST00000593901.1_Splice_Site_p.D468_splice|SYT3_ENST00000544769.1_Splice_Site_p.D468_splice NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 468 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) ggACCCTCACCTGAGAAGCCA 0.647000 4 16 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9739402 9739402 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:9739402G>C ENST00000296003.4 + 18 1743 c.1621G>C c.(1621-1623)Gac>Cac p.D541H MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Intron NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 541 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CAGATCAGTGGACCATCCCCT 0.612000 73 125 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566965 136566965 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:136566965G>A ENST00000264162.2 - 8 2962 c.2952C>T c.(2950-2952)ttC>ttT p.F984F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 984 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) TCCCAGTTGGGAAAATCCGAG 0.493000 14 33 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48335321 48335321 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:48335321C>T ENST00000435803.1 + 21 9004 c.8980C>T c.(8980-8982)Ccg>Tcg p.P2994S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2994 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGGTCCTCGCCGAATCAGCT 0.388000 16 39 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807098 143807098 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143807098G>A ENST00000408979.2 + 1 492 c.423G>A c.(421-423)acG>acA p.T141T NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T141T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGTGTGCACGATCCTGGTTC 0.522000 28 118 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262349 61262349 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:61262349G>A ENST00000344731.5 + 7 804 c.702G>A c.(700-702)ggG>ggA p.G234G SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 234 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AAATTCTAGGGATTCCATATA 0.423000 58 46 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149994 34149994 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:34149994G>A ENST00000346193.3 - 1 453 c.402C>T c.(400-402)taC>taT p.Y134Y NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 134 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCAGATTGGGGTACATGGCCA 0.557000 23 12 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87967415 87967415 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87967415C>T ENST00000307808.6 + 2 535 c.115C>T c.(115-117)Ccc>Tcc p.P39S AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P46S NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 39 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TGAAAAGATTCCCCTTTTTGG 0.403000 46 110 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760009 54760009 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:54760009G>A ENST00000450632.1 - 4 602 c.525C>T c.(523-525)ccC>ccT p.P175P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.P184P|LILRB5_ENST00000449561.2_Silent_p.P184P O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 184 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGGTCACGGGACCCACAG 0.557000 12 21 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39587713 39587713 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:39587713G>A ENST00000352251.3 - 11 2509 c.1676C>T c.(1675-1677)tCt>tTt p.S559F PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S537F NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 559 Ser-rich. GGCTAAAGGAGACTGTACAGG 0.597000 19 48 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56465910 56465910 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56465910C>T ENST00000291971.3 + 3 557 c.486C>T c.(484-486)ttC>ttT p.F162F NLRP8_ENST00000590542.1_Silent_p.F162F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 162 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAAGTTTTTCCCCATATGGG 0.443000 34 53 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101821817 101821817 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:101821817C>T ENST00000360264.3 + 11 950 c.930C>T c.(928-930)atC>atT p.I310I CUX1_ENST00000437600.4_Silent_p.I308I|CUX1_ENST00000292535.7_Silent_p.I299I|CUX1_ENST00000292538.4_Silent_p.I310I|CUX1_ENST00000425244.2_Silent_p.I264I|CUX1_ENST00000393824.3_Silent_p.I271I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Silent_p.I299I|CUX1_ENST00000550008.2_Silent_p.I299I|CUX1_ENST00000549414.2_Silent_p.I299I|CUX1_ENST00000547394.2_Silent_p.I294I|CUX1_ENST00000546411.2_Silent_p.I299I NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 299 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGCGGGAGATCGCACAGCTGG 0.607000 6 15 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961873 1961873 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1961873C>T ENST00000454677.2 - 2 863 c.798G>A c.(796-798)ggG>ggA p.G266G HS3ST6_ENST00000293937.3_Silent_p.G249G|HS3ST6_ENST00000443547.1_Silent_p.G218G C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 218 endometrium(2)|lung(2) 4 CCAGACGCTCCCCGCTGACGA 0.662000 27 35 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105404212 105404212 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:105404212G>A ENST00000264122.4 - 14 2474 c.2153C>T c.(2152-2154)tCc>tTc p.S718F CBLB_ENST00000405772.1_Missense_Mutation_p.S718F|CBLB_ENST00000403724.1_Missense_Mutation_p.S718F|CBLB_ENST00000394027.3_Missense_Mutation_p.S740F NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 718 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TGAATTCAGGGAAACAGGGTG 0.403000 Mis S AML 27 57 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75072263 75072263 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:75072263C>T ENST00000310715.3 - 11 1381 c.1261G>A c.(1261-1263)Gat>Aat p.D421N TTC18_ENST00000394865.1_Missense_Mutation_p.D421N|TTC18_ENST00000401621.2_Missense_Mutation_p.D421N|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 421 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CCATCTATATCCTTTTCTTTC 0.383000 43 83 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61959705 61959705 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:61959705C>T ENST00000422202.1 + 33 3743 c.3675C>T c.(3673-3675)tcC>tcT p.S1225S COL20A1_ENST00000435874.1_Silent_p.S1225S|COL20A1_ENST00000358894.6_Silent_p.S1212S|COL20A1_ENST00000326996.6_Silent_p.S1244S Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1212 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) AGTTCGACTCCTTCCACGAGA 0.677000 4 13 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58420091 58420091 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58420091G>A ENST00000312026.5 - 3 1719 c.1555C>T c.(1555-1557)Cct>Tct p.P519S ZNF417_ENST00000595559.1_Missense_Mutation_p.P518S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.P320S NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CACTTATAAGGCTTTTGTCCA 0.403000 22 66 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137620588 137620588 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:137620588G>A ENST00000371817.3 + 6 1273 c.859G>A c.(859-861)Ggg>Agg p.G287R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 287 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGAAGACCTAGGGAAGGAGCC 0.612000 50 80 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60559761 60559761 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60559761G>A ENST00000308287.1 + 4 423 c.327G>A c.(325-327)gcG>gcA p.A109A NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 109 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GGATCTTGGCGATAACAATGA 0.453000 36 75 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348316 89348316 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:89348316G>A ENST00000301030.4 - 9 5094 c.4634C>T c.(4633-4635)cCa>cTa p.P1545L ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1545L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1545 Lys-rich. nucleus p.P1545Q(1) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CATCTTCACTGGGTCGCCCTT 0.587000 18 27 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777793 183777793 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:183777793G>A ENST00000318351.1 + 8 1137 c.1103G>A c.(1102-1104)gGa>gAa p.G368E NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 368 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.G368K(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCCCAGAAGGGAAATAAGGGC 0.642000 6 15 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648286 57648286 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57648286C>T ENST00000269834.1 - 4 581 c.196G>A c.(196-198)Gag>Aag p.E66K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AACCATGGCTCCTTTCCTTGT 0.527000 29 74 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36707615 36707615 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:36707615C>T ENST00000264659.7 - 15 2962 c.2738G>A c.(2737-2739)cGa>cAa p.R913Q SRCIN1_ENST00000578925.1_Missense_Mutation_p.R947Q|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 785 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CTCCCAGTCTCGCTCTGCAGC 0.622000 11 12 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96789926 96789926 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:96789926G>A ENST00000342380.2 - 9 958 c.959C>T c.(958-960)tCc>tTc p.S320F NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 320 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGGGCTCCTGGATTCCGCCGA 0.657000 12 19 0 0 1 0 0 FAM107B 83641 broad.mit.edu 37 10 14564008 14564008 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:14564008G>A ENST00000181796.2 - 4 897 c.664C>T c.(664-666)Cct>Tct p.P222S FAM107B_ENST00000478076.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378470.1_Missense_Mutation_p.P47S|FAM107B_ENST00000479731.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378467.4_Missense_Mutation_p.P47S|FAM107B_ENST00000496330.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378465.3_Missense_Mutation_p.P47S|FAM107B_ENST00000378462.1_Missense_Mutation_p.P47S|FAM107B_ENST00000378458.2_Missense_Mutation_p.P47S|FAM107B_ENST00000468747.1_Missense_Mutation_p.P47S NM_031453.2 NP_113641.2 Q9H098 F107B_HUMAN family with sequence similarity 107, member B 47 breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTGTTCTGAGGAGCAAGACCC 0.358000 14 29 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803231 113803231 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:113803231G>A ENST00000375559.3 + 8 905 c.865_splice c.e8-1 p.G289_splice F10_ENST00000409306.1_Splice_Site_p.G288_splice|F10_ENST00000375551.3_Splice_Site_p.G286_splice NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 289 Peptidase S1. G -> R (in FA10D; may affect splicing). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTCCCAGGGGACCGGAACA 0.517000 79 107 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36242644 36242644 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:36242644C>T ENST00000540320.1 + 57 9272 c.8738C>T c.(8737-8739)tCc>tTc p.S2913F NBEA_ENST00000379939.2_Missense_Mutation_p.S2910F|NBEA_ENST00000310336.4_Missense_Mutation_p.S2913F|NBEA_ENST00000379922.3_Missense_Mutation_p.S491F|NBEA_ENST00000537702.1_Missense_Mutation_p.S706F|NBEA_ENST00000400445.3_Missense_Mutation_p.S2913F Q8NFP9 NBEA_HUMAN neurobeachin 2913 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGGACTTGTCCCATGACCAG 0.498000 16 27 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7683569 7683569 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7683569C>T ENST00000572933.1 + 37 7277 c.5817C>T c.(5815-5817)atC>atT p.I1939I DNAH2_ENST00000389173.2_Silent_p.I1939I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1939 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTGCAGAAATCATTCTCTTTG 0.468000 52 141 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043970 74043970 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:74043970G>A ENST00000409561.1 + 3 2741 c.2620G>A c.(2620-2622)Gag>Aag p.E874K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 874 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CATCACAGAAGAGCAGAGGCC 0.493000 12 23 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66410093 66410093 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:66410093C>T ENST00000341567.4 + 3 545 c.290C>T c.(289-291)tCc>tTc p.S97F NM_017994.4 NP_060464.1 transmembrane protein 248 GCCCGAGCTTCCACCCAGTCC 0.557000 20 38 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211645 78211645 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78211645G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GGGCGCCAGGGATAGGGGCTC 0.522000 19 25 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243771 137243771 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:137243771C>G ENST00000331858.4 + 1 370 c.205C>G c.(205-207)Ccc>Gcc p.P69A NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 69 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CGCCGTGCCCCCCTTCGGTCT 0.716000 3 3 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11448055 11448055 + Silent SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11448055G>T ENST00000222120.3 - 2 281 c.21C>A c.(19-21)acC>acA p.T7T RAB3D_ENST00000589655.1_Silent_p.T7T NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 7 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 GGCCTGCCTGGGTGTCTCCAG 0.552000 43 80 5.82388e-19 5.91089e-19 1 1 0 TTN 7273 broad.mit.edu 37 2 179614378 179614378 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179614378G>A ENST00000360870.5 - 46 12971 c.12749C>T c.(12748-12750)cCt>cTt p.P4250L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 6912 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) ATAAGTGACAGGCTCCACTGT 0.348000 19 27 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729796 88729796 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:88729796G>A ENST00000340700.5 - 2 588 c.137C>T c.(136-138)tCc>tTc p.S46F KCNK10_ENST00000312350.5_Missense_Mutation_p.S51F|KCNK10_ENST00000319231.5_Missense_Mutation_p.S51F NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 46 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.S46F(1)|p.S51F(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGCTCGGGAGGAAATGGACAG 0.642000 38 84 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83781803 83781803 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:83781803C>T ENST00000566620.1 + 11 1919 c.1629C>T c.(1627-1629)tcC>tcT p.S543S CDH13_ENST00000428848.3_Silent_p.S504S|RP11-298D21.1_ENST00000569165.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000268613.10_Silent_p.S590S|RP11-298D21.1_ENST00000570056.1_RNA NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 543 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACCGTGAGTCCCCATTTGTCG 0.458000 46 89 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000503 16000503 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16000503C>T ENST00000221700.5 - 7 743 c.647_splice c.e7-1 p.E216_splice CYP4F2_ENST00000011989.7_Splice_Site_p.E67_splice|CYP4F2_ENST00000592328.1_Splice_Site_p.E216_splice NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 216 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CACTGGGTTTCCTGCAGGATA 0.468000 40 67 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038009 75038009 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75038009C>T ENST00000326665.5 - 14 3603 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1129 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACAGGTGCTTCGTTCTCAGCA 0.468000 17 30 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135214 46135214 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46135214G>A ENST00000371383.2 - 3 1046 c.786C>T c.(784-786)acC>acT p.T262T ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Silent_p.T262T Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 262 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 GATCAATCAGGGTATAGTGGT 0.443000 72 120 0 0 1 0 0 MIR331 442903 broad.mit.edu 37 12 95702281 95702281 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:95702281C>T ENST00000362302.1 + 0 86 NR_029895.1 CTAGAACCAACCTAAGCTCGC 0.473000 9 13 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915703 97915703 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:97915703G>A ENST00000370192.3 - 14 1917 c.1817C>T c.(1816-1818)tCc>tTc p.S606F NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 606 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTCAGAAAGGAGCTTTGTCC 0.448000 19 39 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146328 156146328 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:156146328C>T ENST00000368285.3 + 15 2093 c.1826C>T c.(1825-1827)tCc>tTc p.S609F SEMA4A_ENST00000368282.1_Missense_Mutation_p.S609F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S477F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S477F|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S609F NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 609 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TACAATGGCTCCCTCTTGCTG 0.562000 16 40 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6679422 6679422 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:6679422G>A ENST00000518724.1 - 0 926 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) ATTTCTAGAAGGGCTGTCCCA 0.517000 7 2 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051542 17051542 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:17051542C>T ENST00000418129.2 + 2 791 c.326C>T c.(325-327)tCc>tTc p.S109F PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.S109F|PLCL2_ENST00000432376.1_Missense_Mutation_p.S109F NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 235 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GTTGCCAACTCCGCAGATGTT 0.408000 42 69 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55014950 55014950 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55014950G>A ENST00000301202.2 + 2 191 c.70_splice c.e2+1 p.E23_splice LAIR2_ENST00000351841.2_Splice_Site_p.E23_splice NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 23 extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACACGCAGGAGGGTAAGTCAT 0.572000 25 60 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21139052 21139052 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21139052C>T ENST00000261383.3 - 8 1163 c.1164G>A c.(1162-1164)gtG>gtA p.V388V CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.V388V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 388 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTTTCTGGATCACATCCCAAA 0.488000 50 75 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10672849 10672849 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:10672849G>A ENST00000302079.6 - 50 7654 c.7655C>T c.(7654-7656)aCc>aTc p.T2552I PIEZO2_ENST00000285141.4_Missense_Mutation_p.T407I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T572I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2640I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2615I Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2615 integral to membrane ion channel activity CAAAATGATGGTAATATCCAT 0.368000 18 37 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336434 3336434 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3336434G>A ENST00000248384.1 - 1 701 c.702C>T c.(700-702)atC>atT p.I234I NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 234 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 GGACCTTGAGGATGGAGGAGA 0.478000 10 25 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174870065 174870065 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:174870065C>T ENST00000393752.2 - 2 1030 c.38G>A c.(37-39)gGg>gAg p.G13E NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 13 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CACCACCAGCCCAGTCCCGTC 0.572000 36 84 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64749606 64749606 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:64749606G>A ENST00000557772.1 - 1 97 c.98C>T c.(97-99)cCt>cTt p.P33L ESR2_ENST00000555278.1_Missense_Mutation_p.P33L|ESR2_ENST00000542956.1_Missense_Mutation_p.P33L|ESR2_ENST00000341099.4_Missense_Mutation_p.P33L|ESR2_ENST00000358599.5_Missense_Mutation_p.P33L|ESR2_ENST00000353772.3_Missense_Mutation_p.P33L|ESR2_ENST00000553796.1_Missense_Mutation_p.P33L|ESR2_ENST00000267525.6_Missense_Mutation_p.P33L|ESR2_ENST00000357782.2_Missense_Mutation_p.P33L|ESR2_ENST00000554572.1_Missense_Mutation_p.P33L NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 33 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ATAGGAGGAAGGTATGTATAT 0.443000 34 57 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87370852 87370852 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:87370852C>T ENST00000338056.3 + 7 1048 c.637C>T c.(637-639)Cct>Tct p.P213S RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P196S|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P196S NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 213 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TGGCAGTTTTCCTGCTGTAAT 0.274000 13 28 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138647015 138647015 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138647015G>A ENST00000298480.5 + 6 614 c.540_splice c.e6+1 p.Q180_splice KCNT1_ENST00000263604.3_Splice_Site_p.Q161_splice|KCNT1_ENST00000491806.2_Splice_Site_p.Q147_splice|KCNT1_ENST00000490355.2_Splice_Site_p.Q161_splice|KCNT1_ENST00000488444.2_Splice_Site_p.Q161_splice|KCNT1_ENST00000487664.1_Splice_Site_p.Q132_splice|KCNT1_ENST00000371757.2_Splice_Site_p.Q180_splice|KCNT1_ENST00000486577.2_Splice_Site_p.Q141_splice B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 180 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGGCGATCCAGGTGAGTGCCC 0.597000 16 23 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119002249 119002249 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:119002249C>T ENST00000350777.2 + 4 479 c.416C>T c.(415-417)tCc>tTc p.S139F HINFP_ENST00000527410.1_Missense_Mutation_p.S139F|HINFP_ENST00000527354.1_3'UTR NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 139 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GCACAGAATTCCTTCGACAAT 0.537000 29 67 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961872 1961872 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1961872C>T ENST00000454677.2 - 2 864 c.799G>A c.(799-801)Gag>Aag p.E267K HS3ST6_ENST00000293937.3_Missense_Mutation_p.E250K|HS3ST6_ENST00000443547.1_Missense_Mutation_p.E219K C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 219 endometrium(2)|lung(2) 4 ACCAGACGCTCCCCGCTGACG 0.667000 27 35 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32039945 32039945 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32039945G>A ENST00000375244.3 - 13 5013 c.4812C>T c.(4810-4812)ttC>ttT p.F1604F TNXB_ENST00000375247.2_Silent_p.F1604F P22105 TENX_HUMAN tenascin XB 1686 Fibronectin type-III 8. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAAAGGAGTCGAATTCACCCT 0.612000 31 19 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883187 48883187 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:48883187C>T ENST00000262105.2 + 11 1760 c.1551C>T c.(1549-1551)tcC>tcT p.S517S MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Silent_p.S517S NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 517 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCAGCAAGTCCCAGCTGCTGC 0.557000 15 75 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62378384 62378384 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62378384G>A ENST00000245663.4 - 5 1819 c.1669C>T c.(1669-1671)Cct>Tct p.P557S ZBTB46_ENST00000302995.2_Missense_Mutation_p.P557S|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P557S NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCATCCTCAGGGGCCAGGCCC 0.697000 13 25 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30532830 30532830 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:30532830G>A ENST00000356798.6 + 31 3537 c.3357G>A c.(3355-3357)cgG>cgA p.R1119R ITGAL_ENST00000433423.2_Silent_p.R353R|ITGAL_ENST00000358164.5_Silent_p.R1035R NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1119 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCTTCAAACGGAACCTGAAGG 0.478000 9 42 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67259723 67259723 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67259723C>T ENST00000356404.3 - 24 3741 c.3516G>A c.(3514-3516)gcG>gcA p.A1172A PITPNM1_ENST00000436757.2_Silent_p.A1171A|PITPNM1_ENST00000534749.1_Silent_p.A1172A NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 1172 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGTGCGAGCCCGCTTCCAGCT 0.672000 8 10 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94411922 94411922 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:94411922C>T ENST00000282020.4 + 12 2249 c.1991C>T c.(1990-1992)tCc>tTc p.S664F GRID2_ENST00000510992.1_Missense_Mutation_p.S569F NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 664 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGAAAGTTCCATCCAGTAA 0.393000 33 37 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128162 147128162 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:147128162C>T ENST00000282928.4 + 1 992 c.263C>T c.(262-264)tCc>tTc p.S88F NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 88 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CACGTCGGCTCCTATTCCAGC 0.692000 5 8 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682001 100682001 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100682001G>T ENST00000306151.4 + 3 7368 c.7304G>T c.(7303-7305)aGt>aTt p.S2435I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2435 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGAAGCCAGTTCATCTCCT 0.547000 212 416 2.69335e-108 2.74949e-108 1 1 0 C16orf80 29105 broad.mit.edu 37 16 58149201 58149201 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58149201G>A ENST00000262498.3 - 4 771 c.437C>T c.(436-438)aCc>aTc p.T146I C16orf80_ENST00000562443.1_5'UTR NM_013242.2 NP_037374.1 Q9Y6A4 CP080_HUMAN chromosome 16 open reading frame 80 146 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GATGTAATTGGTGCCGTATGC 0.552000 58 103 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99932104 99932104 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:99932104C>T ENST00000524871.1 + 10 1431 c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C CNTN5_ENST00000528682.1_Missense_Mutation_p.R381C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R381C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R381C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R307C NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 381 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAATTCCTTTCGTGGACAATT 0.393000 12 23 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83438571 83438571 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:83438571C>T ENST00000334574.8 - 8 1514 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K FSD2_ENST00000541889.1_Intron A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 445 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 ACCCAAAATTCATACTGGGTA 0.458000 25 54 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44951641 44951641 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:44951641G>A ENST00000296125.4 + 11 1455 c.1387G>A c.(1387-1389)Gag>Aag p.E463K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 463 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTCTGAGAGGGAGCACAGACG 0.478000 13 29 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469803 72469803 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:72469803C>T ENST00000360141.3 + 2 457 c.169C>T c.(169-171)Cta>Tta p.L57L CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 57 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACAGATTTTCCTATGTGACAA 0.552000 27 34 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29052083 29052083 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29052083G>A ENST00000334056.5 + 6 639 c.450G>A c.(448-450)ggG>ggA p.G150G SPDYA_ENST00000379579.4_Silent_p.G150G|SPDYA_ENST00000462832.1_3'UTR NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 150 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GGGCTTTAGGGAAAAACTGGA 0.383000 13 25 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135396605 135396605 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:135396605C>T ENST00000442011.2 + 14 2047 c.1886C>T c.(1885-1887)aCc>aTc p.T629I TGFBI_ENST00000305126.8_Missense_Mutation_p.T629I|TGFBI_ENST00000508076.1_Missense_Mutation_p.T11I NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 629 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATGTCATCACCAATGTTCTG 0.483000 12 25 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985978 61985978 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:61985978G>A ENST00000409186.1 - 5 4359 c.2254C>T c.(2254-2256)Ctg>Ttg p.L752L PCDH20_ENST00000409204.4_Silent_p.L752L Q8N6Y1 PCD20_HUMAN protocadherin 20 725 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGTACTAACAGATAAGACATA 0.443000 32 58 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37498194 37498194 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:37498194C>T ENST00000377792.3 + 8 1333 c.1045C>T c.(1045-1047)Cga>Tga p.R349* POLR1E_ENST00000442009.2_Nonsense_Mutation_p.R217*|POLR1E_ENST00000377798.4_Nonsense_Mutation_p.R287* Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 349 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CATCAAATTTCGAGCTCATAG 0.398000 26 34 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172766766 172766766 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172766766G>A ENST00000351008.3 - 3 914 c.731C>T c.(730-732)cCa>cTa p.P244L NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 244 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GGCAAGATCTGGTTTCCTCAT 0.428000 26 65 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50100062 50100062 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50100062C>T ENST00000418929.2 + 4 2482 c.2470C>T c.(2470-2472)Ctt>Ttt p.L824F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 505 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGTCCACCTCCTTGAGCCAGC 0.731000 11 13 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127686 117127686 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:117127686C>T ENST00000310357.3 - 3 1203 c.1182G>A c.(1180-1182)agG>agA p.R394R GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.R394R NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 394 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGACGAAGTTCCTTTCTATAG 0.443000 17 23 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143603417 143603417 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:143603417C>T ENST00000517894.1 + 21 4010 c.3116C>T c.(3115-3117)gCg>gTg p.A1039V BAI1_ENST00000323289.5_Missense_Mutation_p.A1039V O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1039 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCCTACATGGCGGTGACGGGC 0.662000 7 26 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901754 51901754 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:51901754G>A ENST00000268919.4 + 1 1516 c.1360G>A c.(1360-1362)Gga>Aga p.G454R NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 454 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAATGAAAGAGGAGCAGATAC 0.488000 18 24 0 0 1 0 0 SSUH2 51066 broad.mit.edu 37 3 8675373 8675373 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:8675373C>T ENST00000317371.4 - 11 1477 c.252G>A c.(250-252)ctG>ctA p.L84L SSUH2_ENST00000415132.1_Silent_p.L84L|SSUH2_ENST00000341795.3_Silent_p.L84L|SSUH2_ENST00000544814.1_Silent_p.L106L ssu-2 homolog (C. elegans) TCTGCCGCTTCAGCTCCTGGA 0.672000 7 14 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125103777 125103777 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:125103777G>A ENST00000522917.1 + 34 4711 c.4505G>A c.(4504-4506)gGa>gAa p.G1502E FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1502E NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1502 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATACAGATAGGAAACCAAGTC 0.453000 30 90 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52546620 52546620 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:52546620G>A ENST00000262094.5 + 3 695 c.174G>A c.(172-174)ccG>ccA p.P58P RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 58 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CACAAGGACCGAATGGATCTT 0.403000 98 100 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25008975 25008975 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:25008975G>A ENST00000381989.3 - 31 4409 c.4304C>T c.(4303-4305)cCc>cTc p.P1435L NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1435 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATGAAGCTGGGGAGAATCCAG 0.512000 6 16 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784366 151784366 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:151784366G>A ENST00000255262.3 - 1 474 c.309C>T c.(307-309)gtC>gtT p.V103V NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 103 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ACATCTCATAGACCTCCAGGG 0.582000 35 63 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49032865 49032865 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:49032865G>A ENST00000226432.4 + 11 1579 c.1396G>A c.(1396-1398)Gag>Aag p.E466K CWH43_ENST00000513409.1_Missense_Mutation_p.E439K NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 466 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AACAATTTTGGAGAGTGATGC 0.388000 25 40 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767594 150767594 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150767594C>T ENST00000485713.1 + 11 2540 c.1500C>T c.(1498-1500)tcC>tcT p.S500S SLC4A2_ENST00000310317.5_Silent_p.S418S|SLC4A2_ENST00000461735.1_Silent_p.S486S|SLC4A2_ENST00000413384.2_Silent_p.S500S|SLC4A2_ENST00000392826.2_Silent_p.S491S NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 500 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCCAAGTCCAAGCACGAGC 0.637000 18 18 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109402 21109402 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:21109402C>A ENST00000320704.3 - 1 448 c.449G>T c.(448-450)tGc>tTc p.C150F NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CCCCACCCAGCAGGCCAAGGC 0.597000 11 22 6.72482e-11 6.79256e-11 1 1 0 OR2A2 442361 broad.mit.edu 37 7 143806751 143806751 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143806751C>T ENST00000408979.2 + 1 145 c.76C>T c.(76-78)Ctc>Ttc p.L26F NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGCGATTCTCCTCTGTGGACT 0.512000 61 88 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70964887 70964887 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:70964887C>T ENST00000357250.6 - 23 1735 c.1577G>A c.(1576-1578)gGa>gAa p.G526E COL9A1_ENST00000320755.7_Missense_Mutation_p.G283E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G283E|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 526 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCAGGAATTCCTCTAGCACC 0.438000 54 54 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825573 196825573 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196825573G>A ENST00000312428.6 - 18 2402 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 768 Stem (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 TCATAAAGACGAAGATAAGGG 0.403000 30 68 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449554 35449554 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35449554G>A ENST00000404801.1 - 4 1591 c.1205C>T c.(1204-1206)tCt>tTt p.S402F ZNF792_ENST00000605484.1_Missense_Mutation_p.S335F NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCAGTTGAAAGATTTCCCACA 0.463000 8 26 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107580566 107580566 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:107580566C>T ENST00000393561.1 - 23 3885 c.3701G>A c.(3700-3702)aGt>aAt p.S1234N LAMB1_ENST00000222399.6_Missense_Mutation_p.S1210N P07942 LAMB1_HUMAN laminin, beta 1 1210 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATCACACCACTGATCTTCAA 0.562000 39 62 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702805 181702805 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:181702805G>A ENST00000526775.1 + 20 3289 c.3124G>A c.(3124-3126)Gac>Aac p.D1042N CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1061N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D993N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1061N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D668N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1012N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1042N NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1061 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCAACACGGACAAGGCCAC 0.642000 16 13 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945846 66945846 + Silent SNP G G A rs142024712 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66945846G>A ENST00000299752.4 - 13 1939 c.1746C>T c.(1744-1746)ttC>ttT p.F582F CDH16_ENST00000565796.1_Silent_p.F582F|CDH16_ENST00000568632.1_Silent_p.F485F|CDH16_ENST00000394055.3_Silent_p.F582F|CDH16_ENST00000570262.1_Silent_p.F502F NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 582 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGGTCAGCAGGAAAGAGCCGG 0.622000 24 40 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154801148 154801148 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:154801148G>A ENST00000392825.3 + 3 705 c.138G>A c.(136-138)ttG>ttA p.L46L GALNT13_ENST00000409237.1_Silent_p.L46L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 46 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGCCTGCATTGAGGGGTAAGT 0.403000 41 74 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620310 7620310 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:7620310C>T ENST00000486284.1 + 8 1991 c.1717C>T c.(1717-1719)Cga>Tga p.R573* GRM7_ENST00000402647.2_Nonsense_Mutation_p.R573*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.R573*|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R573*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R573* NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 573 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAATGAAAATCGAACCGGATG 0.522000 35 83 0 0 1 0 0 C16orf59 80178 broad.mit.edu 37 16 2514543 2514543 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2514543C>T ENST00000483320.1 + 9 1288 c.675C>T c.(673-675)ctC>ctT p.L225L C16orf59_ENST00000569496.1_3'UTR|C16orf59_ENST00000361837.4_Silent_p.L392L|C16orf59_ENST00000563531.1_3'UTR Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 392 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) CTGAACTCCTCCCCCTGGTAA 0.706000 18 16 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832440 44832440 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:44832440C>T ENST00000354340.4 - 4 1921 c.1870G>A c.(1870-1872)Gtc>Atc p.V624I ZNF112_ENST00000536500.1_Missense_Mutation_p.V647I|ZNF112_ENST00000337401.4_Missense_Mutation_p.V630I NM_013380.3 NP_037512.3 zinc finger protein 112 CCAGTGTGGACTCTCTGATGG 0.463000 64 108 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729308 22729308 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:22729308G>A ENST00000503442.1 + 0 149 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATTTTCAAATGAAGATGGAGA 0.408000 48 68 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942924 11942924 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11942924C>T ENST00000304060.5 + 4 1097 c.933C>T c.(931-933)ctC>ctT p.L311L NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAAAAATCTCTATGAATGTA 0.388000 33 60 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434348 35434348 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35434348G>A ENST00000439785.1 + 5 925 c.481G>A c.(481-483)Gga>Aga p.G161R ZNF30_ENST00000303586.7_Missense_Mutation_p.G161R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.G160R|ZNF30_ENST00000426813.2_Missense_Mutation_p.G79R NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CTTTAGTAATGGACATCAACT 0.378000 14 25 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21106004 21106004 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:21106004G>A ENST00000255882.6 - 26 3113 c.3027C>T c.(3025-3027)acC>acT p.T1009T PI4KA_ENST00000572273.1_Silent_p.T951T NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 951 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGTCCAGCATGGTCTTCAGCA 0.602000 18 75 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34512051 34512051 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34512051G>A ENST00000374037.3 - 2 596 c.182C>T c.(181-183)tCc>tTc p.S61F SPDEF_ENST00000544425.1_Missense_Mutation_p.S61F NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 61 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 GTCAAAGTAGGAGAGGTAGAA 0.677000 46 35 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29225431 29225431 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29225431G>A ENST00000379558.4 + 5 808 c.457G>A c.(457-459)Gga>Aga p.G153R FAM179A_ENST00000403861.2_Missense_Mutation_p.G153R NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 153 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGCCCCCAAGGAGTTCCCCT 0.617000 11 18 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124391388 124391388 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124391388C>T ENST00000338354.3 + 47 6083 c.5977C>T c.(5977-5979)Cct>Tct p.P1993S DMBT1_ENST00000359586.6_Missense_Mutation_p.P713S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P1993S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1993 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTATCGACACCTGGTAAGTC 0.493000 12 21 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189191 124189191 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124189191C>T ENST00000357438.2 - 1 993 c.903G>A c.(901-903)ctG>ctA p.L301L NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TCATCTTCTTCAGTGCATTTT 0.393000 23 45 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202589065 202589065 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:202589065C>T ENST00000264276.6 - 21 3837 c.3465G>A c.(3463-3465)tgG>tgA p.W1155* ALS2_ENST00000457679.2_Nonsense_Mutation_p.W467* NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1155 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TATCCATTACCCACTGGCCAA 0.408000 31 53 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7417270 7417270 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7417270C>T ENST00000322644.6 + 29 6086 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1896 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) cctacttattccccaacctct 0.557000 31 41 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398201 89398201 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89398201C>T ENST00000439576.2 + 12 2759 c.2385C>T c.(2383-2385)ccC>ccT p.P795P ACAN_ENST00000561243.1_Silent_p.P795P|ACAN_ENST00000352105.7_Silent_p.P795P|ACAN_ENST00000559004.1_Silent_p.P795P NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 795 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCCATTCCCCTCAGAGGAGC 0.602000 5 14 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598119 28598119 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28598119G>A ENST00000434452.1 - 9 1335 c.1181C>T c.(1180-1182)aCc>aTc p.T394I DSC3_ENST00000360428.4_Missense_Mutation_p.T394I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 394 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTTTAAAATGGTAAAATTGAC 0.313000 26 75 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501369 76501369 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:76501369C>T ENST00000307431.8 + 11 1986 c.1601C>T c.(1600-1602)tCc>tTc p.S534F CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S538F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S462F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S486F NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 535 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.S534Y(1)|p.S510Y(1)|p.S462Y(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAGCAGGGGTCCCTTGGGAAC 0.453000 9 9 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74276032 74276032 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74276032G>A ENST00000295897.4 + 6 708 c.619G>A c.(619-621)Gat>Aat p.D207N ALB_ENST00000503124.1_Missense_Mutation_p.D57N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D207N|ALB_ENST00000401494.3_Missense_Mutation_p.D92N|ALB_ENST00000415165.2_Intron NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 207 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TTTGTAGCTCGATGAACTTCG 0.383000 15 32 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835116 172835116 + Missense_Mutation SNP G G A rs144595913 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172835116G>A ENST00000351008.3 - 2 589 c.406C>T c.(406-408)Cgc>Tgc p.R136C NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 136 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AACTCATAGCGAACACCCATT 0.418000 25 68 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329637 75329637 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:75329637C>T ENST00000556489.2 - 1 900 c.901G>A c.(901-903)Gga>Aga p.G301R PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.G301R NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 301 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GATAAATTTCCTACTGGGACC 0.552000 22 73 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3447795 3447795 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:3447795C>T ENST00000382774.3 + 10 1244 c.1129C>T c.(1129-1131)Ccg>Tcg p.P377S HGFAC_ENST00000511533.1_Missense_Mutation_p.P384S NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 377 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCAACTGTCACCGGATCTCCT 0.667000 8 9 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589695 140589695 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140589695G>A ENST00000239450.2 + 1 1405 c.1216G>A c.(1216-1218)Gag>Aag p.E406K PCDHB12_ENST00000541609.1_Missense_Mutation_p.E69K NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 406 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGGAAACAGAGAGACCGCT 0.498000 14 44 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627436 40627436 + Nonsense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:40627436C>A ENST00000397536.2 - 7 933 c.898G>T c.(898-900)Gga>Tga p.G300* C15orf52_ENST00000559313.1_Nonsense_Mutation_p.G510* Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 510 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TGGCTGCCTCCTCTCGTGGGC 0.682000 4 106 4.096e-09 4.13329e-09 1 1 0 SLC22A10 387775 broad.mit.edu 37 11 63069934 63069934 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63069934C>T ENST00000332793.6 + 7 1206 c.1204C>T c.(1204-1206)Cat>Tat p.H402Y SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 402 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GACACTAAATCATATGGGCCG 0.463000 16 46 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29754757 29754757 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:29754757G>A ENST00000357586.2 - 5 669 c.483C>T c.(481-483)ttC>ttT p.F161F AP1B1_ENST00000405198.1_Silent_p.F161F|AP1B1_ENST00000356015.2_Silent_p.F161F|AP1B1_ENST00000415447.1_Silent_p.F161F|AP1B1_ENST00000432560.2_Silent_p.F161F|AP1B1_ENST00000317368.7_Silent_p.F161F|AP1B1_ENST00000402502.1_Silent_p.F161F NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 161 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGGTGTCCAGGAAGCCCTGGT 0.592000 15 84 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5332977 5332977 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:5332977C>T ENST00000282908.5 + 4 713 c.291C>T c.(289-291)ttC>ttT p.F97F STK32B_ENST00000512636.1_Silent_p.F50F|STK32B_ENST00000510398.1_Silent_p.F50F NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 97 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 AGGACATGTTCATGGTGGTGG 0.552000 33 43 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692503 20692503 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20692503C>T ENST00000315519.2 + 1 713 c.635C>T c.(634-636)tCc>tTc p.S212F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S212Y(2) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCTGCTCCTTCCACTGAGCTT 0.498000 9 22 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60786732 60786732 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60786732C>T ENST00000313421.7 + 13 2135 c.1949C>T c.(1948-1950)cCc>cTc p.P650L CD6_ENST00000452451.2_Missense_Mutation_p.P574L|CD6_ENST00000352009.5_Missense_Mutation_p.P583L|CD6_ENST00000344028.5_Missense_Mutation_p.P618L|CD6_ENST00000346437.4_Missense_Mutation_p.P577L NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 650 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 ACAGGGTCCCCCAGCCCTCAG 0.637000 7 17 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761118 121761118 + Missense_Mutation SNP G G A rs142918972 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:121761118G>A ENST00000504884.2 + 3 202 c.202G>A c.(202-204)Gtc>Atc p.V68I SNCAIP_ENST00000261367.7_Silent_p.A405A|SNCAIP_ENST00000379533.2_Silent_p.A405A|SNCAIP_ENST00000503116.2_Silent_p.A405A|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Silent_p.A358A|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 0 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATATTGCGGCGTCACAGGGAC 0.458000 48 73 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24988464 24988464 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:24988464G>A ENST00000537502.1 - 12 3286 c.1755C>T c.(1753-1755)ccC>ccT p.P585P ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Silent_p.P668P|ACSS1_ENST00000542618.1_Silent_p.P547P|ACSS1_ENST00000484396.1_5'UTR Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 668 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGATGATGCTGGGGTCCTCCA 0.582000 43 74 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288684 107288684 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:107288684C>T ENST00000277216.3 - 1 806 c.807G>A c.(805-807)ggG>ggA p.G269G NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AGTTGTCTTTCCCAAGGAGGT 0.423000 17 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179538395 179538395 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179538395G>A ENST00000589042.1 - 152 34975 c.34751C>T c.(34750-34752)cCt>cTt p.P11584L TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11210L|TTN_ENST00000342992.6_Missense_Mutation_p.P10283L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11383 Glu-rich.|Pro-rich. 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) TTTAGGAACAGGAGTAGGTGC 0.353000 15 36 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33689595 33689595 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:33689595G>A ENST00000269187.5 - 10 2442 c.2229C>T c.(2227-2229)tcC>tcT p.S743S SLC39A6_ENST00000590986.1_Silent_p.S743S NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 743 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 GTTCAAATATGGAAATAAGTA 0.358000 41 59 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2976739 2976739 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:2976739C>T ENST00000396946.4 - 9 1676 c.1273G>A c.(1273-1275)Gag>Aag p.E425K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 425 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ATGCAGGCCTCCCGCCGCACC 0.607000 Mis DLBCL 20 24 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16456476 16456476 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:16456476A>G ENST00000395824.1 - 6 1597 c.980T>C c.(979-981)cTa>cCa p.L327P ZNF287_ENST00000395825.3_Missense_Mutation_p.L327P Q9HBT7 ZN287_HUMAN zinc finger protein 287 320 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTGTACAATTAGGTTTGAATG 0.303000 17 20 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954146 33954146 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33954146C>T ENST00000361328.3 + 3 652 c.499C>T c.(499-501)Ccc>Tcc p.P167S ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P167S NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 167 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GCCAGTGGATCCCTGGCCTGA 0.522000 10 31 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504560 157504560 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:157504560G>A ENST00000361835.3 - 8 1682 c.1525C>T c.(1525-1527)Cat>Tat p.H509Y FCRL5_ENST00000356953.4_Missense_Mutation_p.H509Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H509Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H424Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.H509Y NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 509 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ATGTCCTCATGATAAAACTGG 0.512000 11 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582923 179582923 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179582923C>T ENST00000589042.1 - 86 25034 c.24810G>A c.(24808-24810)ctG>ctA p.L8270L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L7953L|TTN_ENST00000342992.6_Silent_p.L7026L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7953 Ig-like 65. 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) CCACATGTTCCAGAGGTTCAA 0.398000 18 26 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171687691 171687691 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:171687691G>C ENST00000358196.3 + 5 1086 c.536G>C c.(535-537)gGg>gCg p.G179A GAD1_ENST00000344257.5_Missense_Mutation_p.G179A|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.G179A NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 179 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGAAGTATGGGGTTCGCACA 0.537000 26 93 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111030 7111030 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:7111030G>A ENST00000306904.5 + 1 866 c.679G>A c.(679-681)Gaa>Aaa p.E227K NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 227 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGACTACCGCGAACCCCGGGG 0.706000 4 9 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133708 47133708 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:47133708C>T ENST00000422732.2 - 0 435 NR_033957.1 AGAACCACTTCGACCTCTTTG 0.468000 9 67 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73094203 73094203 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:73094203C>T ENST00000450736.2 + 3 685 c.270C>T c.(268-270)gcC>gcT p.A90A SLC16A5_ENST00000329783.4_Silent_p.A90A|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Silent_p.A90A|SLC16A5_ENST00000538213.2_Silent_p.A130A O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 90 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCGTGCTGGCCAGCCTGGGCA 0.597000 64 59 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43858458 43858458 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:43858458C>T ENST00000389420.3 - 10 1444 c.1445G>A c.(1444-1446)cGa>cAa p.R482Q ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R482Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 482 Disintegrin. proteinaceous extracellular matrix zinc ion binding p.R482Q(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCATCATATCGTGATCCAGG 0.383000 28 45 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612104 53612104 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:53612104G>A ENST00000455735.2 - 7 1658 c.1338C>T c.(1336-1338)agC>agT p.S446S ZNF415_ENST00000448501.1_Silent_p.S446S|ZNF415_ENST00000440291.1_Silent_p.S385S|ZNF415_ENST00000500065.4_Silent_p.S398S|ZNF415_ENST00000421033.1_Silent_p.S410S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.S168S|ZNF415_ENST00000243643.4_Silent_p.S398S Q09FC8 ZN415_HUMAN zinc finger protein 415 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GCCTTGCAAGGCTTGAAGTCT 0.418000 21 41 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890217 228890217 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:228890217G>A ENST00000392056.3 - 5 380 c.334C>T c.(334-336)Cca>Tca p.P112S SPHKAP_ENST00000344657.5_Missense_Mutation_p.P112S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 112 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATAAGTTTTGGAAGATCTGGT 0.358000 23 42 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149206376 149206376 + Silent SNP C C T rs149468899 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:149206376C>T ENST00000309241.5 + 3 425 c.393C>T c.(391-393)ccC>ccT p.P131P PPARGC1B_ENST00000394320.3_Silent_p.P131P|PPARGC1B_ENST00000360453.4_Silent_p.P131P|PPARGC1B_ENST00000403750.1_Silent_p.P106P NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 131 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CGCCTGCCCCCTCATCTGCAC 0.617000 28 50 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47252065 47252065 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:47252065C>T ENST00000296861.2 - 3 1245 c.852G>A c.(850-852)ggG>ggA p.G284G NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 284 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CGTCTTCCTTCCCCCTTGCTG 0.537000 151 112 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155206188 155206188 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:155206188G>A ENST00000428024.2 - 7 1313 c.811C>T c.(811-813)Cca>Tca p.P271S GBA_ENST00000368373.3_Missense_Mutation_p.P358S|GBA_ENST00000536770.1_Missense_Mutation_p.P245S|GBA_ENST00000427500.2_Missense_Mutation_p.P309S|GBA_ENST00000327247.5_Missense_Mutation_p.P358S NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 358 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GCTTTGGCTGGAGCCAGAAAG 0.537000 Gaucher disease type I 24 31 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962758 94962758 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94962758C>T ENST00000341228.2 - 4 1652 c.857G>A c.(856-858)gGa>gAa p.G286E SERPINA12_ENST00000556881.1_Missense_Mutation_p.G286E NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 286 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) CACCTGCAATCCCTTCTCCAA 0.483000 42 82 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34611578 34611578 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:34611578C>T ENST00000373973.3 + 11 1497 c.1324C>T c.(1324-1326)Ctg>Ttg p.L442L CNBD2_ENST00000349339.1_Silent_p.L438L|CNBD2_ENST00000538900.1_Intron cyclic nucleotide binding domain containing 2 ACCCTTGATCCTGATGAGCCT 0.453000 41 48 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325980 31325980 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:31325980A>C ENST00000269197.5 + 12 6168 c.6168A>C c.(6166-6168)caA>caC p.Q2056H NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2056 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATCAAAAACAACCTCCAGTTA 0.532000 20 20 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33935215 33935215 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33935215T>A ENST00000262325.7 + 5 887 c.334T>A c.(334-336)Tgc>Agc p.C112S AP2B1_ENST00000589344.1_Missense_Mutation_p.C112S|AP2B1_ENST00000537622.2_Missense_Mutation_p.C112S|AP2B1_ENST00000312678.8_Missense_Mutation_p.C112S|AP2B1_ENST00000592545.1_Intron|AP2B1_ENST00000538556.1_Missense_Mutation_p.C55S NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 112 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AACCATGGGGTGCATCCGGGT 0.478000 13 37 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807749 15807749 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15807749G>A ENST00000550308.1 + 13 1809 c.1429G>A c.(1429-1431)Gag>Aag p.E477K CYP4F12_ENST00000324632.9_Missense_Mutation_p.E477K NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CGCCATGGCGGAGATGAAAGT 0.622000 5 17 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104458468 104458468 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104458468G>A ENST00000229330.4 + 1 234 c.130G>A c.(130-132)Ggc>Agc p.G44S NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 44 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGGAAATGAGGGCATCGCGGA 0.706000 8 25 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509470 63509470 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:63509470C>T ENST00000389100.4 + 4 389 c.317C>T c.(316-318)tCc>tTc p.S106F RNF180_ENST00000296615.6_Missense_Mutation_p.S106F|RNF180_ENST00000381081.2_Intron NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 106 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CCAAAATGTTCCTGTGGCCAG 0.478000 74 128 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119954470 119954470 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:119954470G>A ENST00000327554.2 + 8 1391 c.926G>A c.(925-927)aGg>aAg p.R309K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 309 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GATGCCCGGAGGACAGTCACA 0.473000 11 35 0 0 1 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206977 142206977 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142206977G>A ENST00000426318.2 - 0 34 TCCAGGGCAGGATCTTGTGTC 0.552000 13 39 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69380947 69380947 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:69380947C>T ENST00000337103.4 + 3 1887 c.295C>T c.(295-297)Cca>Tca p.P99S C8orf34_ENST00000348340.2_Missense_Mutation_p.P124S|C8orf34_ENST00000518698.1_Missense_Mutation_p.P210S|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.P124S Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 124 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGTAGAGCATCCAAAGTGGAA 0.398000 67 21 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043428 56043428 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56043428C>T ENST00000313033.2 + 1 400 c.314C>T c.(313-315)tCa>tTa p.S105L NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AAATCTATTTCATTTCTTGGA 0.368000 33 78 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618054 618054 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:618054C>T ENST00000358353.3 - 15 2340 c.2018G>A c.(2017-2019)gGg>gAg p.G673E CDHR5_ENST00000397542.2_Missense_Mutation_p.G673E|CDHR5_ENST00000349570.7_Missense_Mutation_p.G479E Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 673 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACCCAGCACCCCGCCCAGGGC 0.657000 4 21 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38537972 38537972 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38537972C>T ENST00000287675.5 + 1 210 c.114C>T c.(112-114)ttC>ttT p.F38F EXOG_ENST00000422077.2_Silent_p.F38F|EXOG_ENST00000358249.2_5'UTR NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 38 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 CCCTGCAGTTCTTCCGGAGTC 0.672000 OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 28 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107381055 107381055 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:107381055C>T ENST00000372232.3 + 8 728 c.569C>T c.(568-570)cCc>cTc p.P190L ATG4A_ENST00000372254.3_Missense_Mutation_p.P166L|ATG4A_ENST00000545696.1_Missense_Mutation_p.P113L|ATG4A_ENST00000345734.3_Missense_Mutation_p.P190L NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 190 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 CGTGTCCTTCCCTTGAGTGCT 0.468000 49 27 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204313555 204313555 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:204313555G>A ENST00000319170.5 - 11 1717 c.1418C>T c.(1417-1419)cCa>cTa p.P473L RAPH1_ENST00000374489.2_Missense_Mutation_p.P500L|RAPH1_ENST00000453034.1_Missense_Mutation_p.P525L|RAPH1_ENST00000423104.1_Missense_Mutation_p.P500L|RAPH1_ENST00000374493.3_Missense_Mutation_p.P525L|RAPH1_ENST00000419464.1_Missense_Mutation_p.P473L|RAPH1_ENST00000418114.1_Missense_Mutation_p.P473L|RAPH1_ENST00000308091.4_Missense_Mutation_p.P525L|RAPH1_ENST00000439222.1_Missense_Mutation_p.P498L|RAPH1_ENST00000374488.2_Missense_Mutation_p.P498L|RAPH1_ENST00000457812.1_Missense_Mutation_p.P473L NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 473 PH. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGGATTTGTGGATGCTGCAA 0.378000 9 43 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180938 96180938 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:96180938C>T ENST00000343702.4 - 2 812 c.364G>A c.(364-366)Gaa>Aaa p.E122K NTN4_ENST00000538383.1_Missense_Mutation_p.E85K|NTN4_ENST00000553059.1_Missense_Mutation_p.E122K|NTN4_ENST00000344911.4_Missense_Mutation_p.E85K NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 122 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 AATTCAGCTTCCAGGTCTAAC 0.537000 18 28 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79679607 79679607 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:79679607C>T ENST00000261205.4 + 5 864 c.207C>T c.(205-207)gtC>gtT p.V69V SYT1_ENST00000552744.1_Silent_p.V69V|SYT1_ENST00000393240.3_Silent_p.V69V|SYT1_ENST00000457153.2_Silent_p.V69V NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 69 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TAGTCGCAGTCCTTTTAGTCC 0.398000 23 44 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026797 45026797 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45026797G>A ENST00000454753.1 - 0 895 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGACAGAATGGAGTCAAGGAG 0.537000 10 21 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881697 38881697 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:38881697G>A ENST00000274276.3 + 4 651 c.249G>A c.(247-249)ggG>ggA p.G83G OSMR_ENST00000502536.1_Silent_p.G83G NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 83 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCTTTTAGGGGAATTACAGCA 0.423000 26 36 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126726730 126726730 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:126726730C>T ENST00000251772.4 + 8 2086 c.2017C>T c.(2017-2019)Ctg>Ttg p.L673L PLXNA1_ENST00000393409.2_Silent_p.L696L Q9UIW2 PLXA1_HUMAN plexin A1 696 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTGCGCCTTCCTGGAGGGCCG 0.602000 7 36 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110183 106110183 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106110183C>T ENST00000390545.2 - 0 434 CTTCGTGGCTCACGTCCACCA 0.602000 46 90 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33442887 33442887 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:33442887G>A ENST00000297991.4 - 4 535 c.455C>T c.(454-456)tCt>tTt p.S152F AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 152 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) CAAGTGTCCAGAGGGGTAGGT 0.552000 63 105 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9119249 9119249 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:9119249C>T ENST00000382496.5 - 15 2451 c.1786G>A c.(1786-1788)Gga>Aga p.G596R NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 596 TSP type-1 2. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GTCCAGCCTCCGTTCCTGAGG 0.627000 5 10 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64921587 64921587 + Silent SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:64921587A>T ENST00000555709.1 + 26 3099 c.2712A>T c.(2710-2712)gtA>gtT p.V904V MTHFD1_ENST00000556284.1_3'UTR|MTHFD1_ENST00000545908.1_Silent_p.V960V|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000216605.7_Silent_p.V960V|ZBTB25_ENST00000555220.1_Intron NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 904 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACCCCTTAGTAGGAACGGTAA 0.537000 37 63 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68124983 68124983 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:68124983C>T ENST00000380035.2 + 7 2759 c.2701C>T c.(2701-2703)Cga>Tga p.R901* SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R873*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R857*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R862*|SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R804* P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 901 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 ATTGGCTTATCGAGAAGAAAT 0.517000 OREG0023215 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 50 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142239650 142239650 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142239650C>T ENST00000390363.2 - 0 276 AAGAATGTTTCCTTTTGCTCT 0.488000 14 89 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48157688 48157688 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:48157688C>T ENST00000418331.2 + 9 2065 c.1713C>T c.(1711-1713)taC>taT p.Y571Y NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 571 Fibronectin type-III 6. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AGTATGTCTACCATTTAGTCA 0.512000 13 35 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140165879 140165879 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140165879G>A ENST00000504120.2 + 1 4 c.4G>A c.(4-6)Gtg>Atg p.V2M PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGCAATGGTGTTTTCTAG 0.483000 37 90 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32050544 32050544 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:32050544C>T ENST00000271064.7 + 7 840 c.764C>T c.(763-765)tCg>tTg p.S255L TINAGL1_ENST00000457433.2_Missense_Mutation_p.S224L|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 255 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CCTGTCCTGTCGCCCCAGAAC 0.627000 24 41 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36124729 36124729 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:36124729G>A ENST00000540320.1 + 42 7235 c.6701G>A c.(6700-6702)cGa>cAa p.R2234Q NBEA_ENST00000379939.2_Missense_Mutation_p.R2231Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R2234Q|NBEA_ENST00000537702.1_Missense_Mutation_p.R27Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R2234Q Q8NFP9 NBEA_HUMAN neurobeachin 2234 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGGCAAACCGAAGTAAGTCC 0.343000 7 16 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313631 79313631 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:79313631C>T ENST00000305089.3 - 4 264 c.e4-1 NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GGCAATAGAGCTGTTGGAGAA 0.498000 36 52 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11400788 11400788 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11400788G>A ENST00000259089.4 + 2 647 c.55G>A c.(55-57)Gac>Aac p.D19N BLK_ENST00000529894.1_Intron NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 19 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAAAGAGAAGGACAAGGGCCA 0.607000 15 10 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4794954 4794954 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:4794954G>A ENST00000328914.4 + 4 990 c.990G>A c.(988-990)ggG>ggA p.G330G FOXK1_ENST00000446823.1_Silent_p.G167G NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 330 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCCTGAGCGGGATCTACGCCC 0.642000 36 40 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203630464 203630464 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:203630464C>T ENST00000303116.6 + 8 1757 c.1015C>T c.(1015-1017)Cca>Tca p.P339S FAM117B_ENST00000392238.2_Missense_Mutation_p.P583S NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 583 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 ACCACCAGAACCAATTGAGGA 0.512000 12 19 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182171 140182171 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140182171C>T ENST00000522353.2 + 1 1389 c.1389C>T c.(1387-1389)ttC>ttT p.F463F PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F463F|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGGTGTTCGTGAAGGAGA 0.662000 58 77 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293756 33293756 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:33293756C>T ENST00000280979.4 + 13 6907 c.6737C>T c.(6736-6738)cCt>cTt p.P2246L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2246 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGTTTACTCCTTCAAAGCTT 0.438000 10 22 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51685634 51685634 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51685634G>A ENST00000267012.4 - 10 1317 c.1256C>T c.(1255-1257)cCa>cTa p.P419L BIN2_ENST00000452142.2_Missense_Mutation_p.P387L|BIN2_ENST00000544402.1_Missense_Mutation_p.P393L|BIN2_ENST00000604560.1_Missense_Mutation_p.P392L NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 419 Pro-rich. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GGCTCTGGGTGGAGGAGGCCT 0.607000 22 25 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1967762 1967762 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1967762C>T ENST00000382722.5 - 20 2351 c.1989G>A c.(1987-1989)ggG>ggA p.G663G CACNA2D4_ENST00000585708.1_Silent_p.G599G|CACNA2D4_ENST00000586184.1_Silent_p.G663G|CACNA2D4_ENST00000587995.1_Silent_p.G638G|CACNA2D4_ENST00000588077.1_Silent_p.G599G|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Silent_p.G524G NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 663 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGACGTGTTCCCCAGAAGGA 0.587000 12 50 0 0 1 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6990791 6990791 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:6990791G>A ENST00000600751.1 - 0 66 NR_024075.1 AGCAGGACCAGGAGGAACCTG 0.498000 14 51 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141116507 141116507 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141116507G>A ENST00000389484.3 - 73 12111 c.11140C>T c.(11140-11142)Ctt>Ttt p.L3714F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3714 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L3714I(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GATGGACAAAGAAATTTGACT 0.368000 TSP Lung(27;0.18) 16 39 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8198186 8198186 + Missense_Mutation SNP G G C rs17847180 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:8198186G>C ENST00000402384.3 - 7 942 c.676C>G c.(676-678)Ctc>Gtc p.L226V ICA1_ENST00000401396.1_Missense_Mutation_p.L214V|ICA1_ENST00000407906.1_Missense_Mutation_p.L226V|ICA1_ENST00000265577.7_Missense_Mutation_p.L225V|ICA1_ENST00000396675.3_Missense_Mutation_p.L226V|ICA1_ENST00000422063.2_Missense_Mutation_p.L226V|ICA1_ENST00000406470.2_Missense_Mutation_p.L226V Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 226 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGAGACAAGAGATTGCATCTG 0.373000 32 40 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155186322 155186322 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:155186322G>A ENST00000486869.1 - 0 746 NR_002188.2 GGCACTGGAAGGGGTATCCAC 0.552000 18 27 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13786245 13786245 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:13786245A>G ENST00000380567.1 + 22 3282 c.2410A>G c.(2410-2412)Aat>Gat p.N804D OFD1_ENST00000340096.6_Missense_Mutation_p.N944D|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.N904D O75665 OFD1_HUMAN oral-facial-digital syndrome 1 944 Mediates the interaction with SDCCAG8. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AGAAATGAGTAATCAAGAAAT 0.323000 12 7 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18719980 18719980 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18719980G>A ENST00000433979.1 + 28 3993 c.3877G>A c.(3877-3879)Gaa>Aaa p.E1293K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1334K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1293K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1293 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGTATCACATGAAGTTACAAA 0.299000 21 31 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092319 40092319 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:40092319G>A ENST00000372852.3 - 5 1166 c.847C>T c.(847-849)Ccc>Tcc p.P283S HEYL_ENST00000535435.1_Missense_Mutation_p.P255S NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 283 Pro-rich. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGACCAGGGGGTGTTGGGGAG 0.682000 3 5 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61844939 61844939 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:61844939G>A ENST00000280772.1 - 31 4012 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F ANK3_ENST00000373827.2_Missense_Mutation_p.S1268F|ANK3_ENST00000355288.2_Missense_Mutation_p.S408F|ANK3_ENST00000503366.1_Missense_Mutation_p.S1275F NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1274 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTGTAAAGGAGACACAATC 0.388000 16 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179457292 179457292 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179457292G>A ENST00000589042.1 - 301 59664 c.59440C>T c.(59440-59442)Cca>Tca p.P19814S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10749S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18173S|TTN_ENST00000342992.6_Missense_Mutation_p.P17246S|TTN_ENST00000342175.6_Missense_Mutation_p.P10941S|TTN_ENST00000359218.5_Missense_Mutation_p.P10874S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18173 Fibronectin type-III 43. 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) TTTGGGAATGGCACTCCTTTG 0.408000 40 103 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55047556 55047556 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:55047556C>T ENST00000330807.5 - 5 704 c.567G>A c.(565-567)aaG>aaA p.K189K ALAS2_ENST00000396198.3_Silent_p.K176K|ALAS2_ENST00000335854.4_Silent_p.K152K NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 189 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CGGACACATCCTTTGAGGCCA 0.517000 22 11 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426639 10426639 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10426639C>T ENST00000245503.5 - 38 5947 c.5563G>A c.(5563-5565)Gaa>Aaa p.E1855K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1855K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1855 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TAAGTGAGTTCCTTCACTCGC 0.458000 22 70 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149879677 149879677 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:149879677G>A ENST00000369146.3 - 9 1951 c.1461C>T c.(1459-1461)ttC>ttT p.F487F SV2A_ENST00000369145.1_Silent_p.F487F NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 487 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCTCCCCGGGGAACACTTTGG 0.517000 62 97 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4254582 4254582 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4254582C>T ENST00000399609.3 - 2 127 c.115G>A c.(115-117)Gag>Aag p.E39K SRL_ENST00000537996.1_5'UTR NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 498 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.E39K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGGGTCTTCTCGATGTGGGAG 0.572000 29 49 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749661 234749661 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234749661G>A ENST00000411486.2 - 8 1830 c.1765C>T c.(1765-1767)Caa>Taa p.Q589* HJURP_ENST00000441687.1_Nonsense_Mutation_p.Q504*|HJURP_ENST00000432087.1_Nonsense_Mutation_p.Q535* NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 589 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.Q589*(1) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CAATACTTTTGATGAAGCTTG 0.413000 21 45 0 0 1 0 0 SLA2 84174 broad.mit.edu 37 20 35262980 35262980 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:35262980G>A ENST00000262866.4 - 3 526 c.104C>T c.(103-105)gCc>gTc p.A35V SLA2_ENST00000360672.2_Missense_Mutation_p.A35V NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 35 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CACGGCTGTGGCCTTGCTTCT 0.612000 5 14 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20362025 20362025 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20362025A>G ENST00000396134.2 - 2 158 c.35T>C c.(34-36)gTg>gCg p.V12A UMOD_ENST00000396142.2_Missense_Mutation_p.V12A|UMOD_ENST00000302509.4_Missense_Mutation_p.V12A|UMOD_ENST00000424589.1_Missense_Mutation_p.V12A|UMOD_ENST00000396138.4_Missense_Mutation_p.V61A|UMOD_ENST00000570689.1_Missense_Mutation_p.V12A NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 12 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGCCACCACCACCATCAGCAT 0.517000 15 30 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51213539 51213539 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51213539C>T ENST00000262053.3 + 7 815 c.793C>T c.(793-795)Ctt>Ttt p.L265F ATF1_ENST00000539132.1_Missense_Mutation_p.L130F NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 265 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 TTTGAAGGATCTTTATTCCAA 0.284000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 10 23 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102900995 102900995 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:102900995C>T ENST00000359520.7 + 9 2067 c.1841C>T c.(1840-1842)cCc>cTc p.P614L TECPR2_ENST00000558678.1_Missense_Mutation_p.P614L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 614 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ACACAGTTACCCTTCCAAGAA 0.552000 14 18 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181686434 181686434 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:181686434C>T ENST00000526775.1 + 11 1686 c.1521C>T c.(1519-1521)ctC>ctT p.L507L CACNA1E_ENST00000367573.2_Silent_p.L507L|CACNA1E_ENST00000358338.5_Silent_p.L458L|CACNA1E_ENST00000367570.1_Silent_p.L507L|CACNA1E_ENST00000367567.4_Silent_p.L114L|CACNA1E_ENST00000357570.5_Silent_p.L458L|CACNA1E_ENST00000360108.3_Silent_p.L507L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 507 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCACCCACCTCCTCTGTAAGT 0.547000 16 45 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71887755 71887755 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:71887755C>T ENST00000258104.3 + 44 5137 c.4860C>T c.(4858-4860)ccC>ccT p.P1620P DYSF_ENST00000429174.2_Silent_p.P1641P|DYSF_ENST00000413539.2_Silent_p.P1651P|DYSF_ENST00000410020.3_Silent_p.P1659P|DYSF_ENST00000409582.3_Silent_p.P1658P|DYSF_ENST00000409744.1_Silent_p.P1628P|DYSF_ENST00000410041.1_Silent_p.P1638P|DYSF_ENST00000394120.2_Silent_p.P1621P|DYSF_ENST00000409366.1_Silent_p.P1642P|DYSF_ENST00000409762.1_Silent_p.P1637P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.P1652P NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1620 C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACTACATCCCCTGCACGCTGG 0.498000 27 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605956 179605956 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179605956G>A ENST00000589042.1 - 48 12228 c.12004C>T c.(12004-12006)Cag>Tag p.Q4002* TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q3639*|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q3685*|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q3831*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q3764* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3685 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) TCTTCCCTCTGAGGGTCATTG 0.438000 19 41 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596626 24596626 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:24596626C>T ENST00000535378.1 - 4 891 c.249G>A c.(247-249)aaG>aaA p.K83K KIAA0319_ENST00000378214.3_Silent_p.K92K|KIAA0319_ENST00000537886.1_Silent_p.K92K|KIAA0319_ENST00000430948.2_Silent_p.K47K|KIAA0319_ENST00000543707.1_Silent_p.K92K NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 92 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGGGGCCCATCTTCTTGGGCT 0.602000 23 74 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183300 167183300 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:167183300G>A ENST00000476257.1 - 5 938 c.640C>T c.(640-642)Cca>Tca p.P214S SERPINI2_ENST00000264677.4_Missense_Mutation_p.P214S|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P214S|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P214S O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 214 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.P214S(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TTCATCATTGGAATTTTGACA 0.318000 8 27 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68170430 68170430 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:68170430G>A ENST00000262215.3 - 16 2720 c.2331C>T c.(2329-2331)ttC>ttT p.F777F ARFGEF1_ENST00000520381.1_Silent_p.F231F NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 777 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.F777F(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGGCTGAAACGAAGTCTTTTC 0.383000 43 12 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578348 30578348 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:30578348G>A ENST00000378962.3 - 3 447 c.125C>T c.(124-126)tCc>tTc p.S42F NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 42 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 AGAGGAATAGGAAAGGGTAGC 0.453000 63 18 0 0 1 0 0 EDF1 8721 broad.mit.edu 37 9 139756759 139756759 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139756759C>T ENST00000224073.1 - 5 451 c.424G>A c.(424-426)Gag>Aag p.E142K EDF1_ENST00000371649.1_3'UTR NM_003792.2 NP_003783.1 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 142 endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GGCCCCTTCTCGATGGGCTTT 0.612000 57 107 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209788748 209788748 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209788748C>T ENST00000391911.1 - 22 3776 c.3387G>A c.(3385-3387)atG>atA p.M1129I LAMB3_ENST00000356082.4_Missense_Mutation_p.M1129I|LAMB3_ENST00000367030.3_Missense_Mutation_p.M1129I NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1129 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCTCCAACTCCATGTCTGAGG 0.587000 26 36 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397910 56397910 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:56397910C>T ENST00000394109.3 + 3 1461 c.737C>T c.(736-738)tCc>tTc p.S246F SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000266971.3_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000548274.1_Missense_Mutation_p.S246F|SUOX_ENST00000551841.2_Intron P51687 SUOX_HUMAN sulfite oxidase 246 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTGTCTCTTTCCCTGGATGAC 0.517000 18 49 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001897 177001897 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:177001897G>A ENST00000367654.2 - 3 573 c.560C>T c.(559-561)cCg>cTg p.P187L ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P187L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P187L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P187L O14525 ASTN1_HUMAN astrotactin 1 187 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGGGGCTGCGGGACCCGGCG 0.612000 20 31 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30985180 30985180 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:30985180A>G ENST00000354694.6 - 2 208 c.102T>C c.(100-102)ttT>ttC p.F34F PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Silent_p.F34F|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Silent_p.F34F NM_001243225.1|NM_014303.3 NP_001230154.1|NP_055118.1 O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 34 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 ATATTCACCTAAAGTCAGCCA 0.517000 5 25 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86163066 86163066 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:86163066C>T ENST00000321764.3 + 2 437 c.135C>T c.(133-135)ctC>ctT p.L45L CA13_ENST00000517298.1_3'UTR NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 45 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding p.L45L(1) large_intestine(1)|lung(6) 7 ACTCTTCCCTCCGACCACTTA 0.408000 104 92 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147717 21147717 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21147717G>A ENST00000261383.3 - 6 813 c.814C>T c.(814-816)Ctg>Ttg p.L272L DNAH3_ENST00000415178.1_Silent_p.L272L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 272 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGGGCTCCAGGAAGGGACTC 0.517000 38 84 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898686 103898686 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:103898686C>T ENST00000278070.2 + 4 579 c.540C>T c.(538-540)atC>atT p.I180I PPRC1_ENST00000413464.2_Silent_p.I180I NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTGACCTCATCACCCCAGTTG 0.547000 24 31 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457492 107457492 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:107457492G>A ENST00000318763.5 + 1 833 c.790G>A c.(790-792)Gag>Aag p.E264K NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TAATTGTGCTGAGGGAAGAAA 0.388000 34 21 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104459995 104459995 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104459995T>G ENST00000229330.4 + 2 318 c.214T>G c.(214-216)Tgt>Ggt p.C72G NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 72 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CCCTCCAGGCTGTGCTGCCCA 0.398000 57 89 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5139180 5139180 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:5139180G>A ENST00000427587.4 - 7 888 c.820C>T c.(820-822)Cgg>Tgg p.R274W FAM86A_ENST00000587133.1_Missense_Mutation_p.R213W|FAM86A_ENST00000458008.4_Missense_Mutation_p.R240W NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 274 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TCAGGAGCCCGCTGGTGCTCC 0.637000 4 80 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206784 58206784 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:58206784G>A ENST00000302572.2 - 1 862 c.841C>T c.(841-843)Ccc>Tcc p.P281S NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCAACATGGGAATGACTATG 0.423000 17 29 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529414 40529414 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40529414C>T ENST00000447116.2 + 6 1840 c.1533C>T c.(1531-1533)ttC>ttT p.F511F ZNF619_ENST00000432264.2_Silent_p.F471F|ZNF619_ENST00000429348.2_Silent_p.F471F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F511F|ZNF619_ENST00000522736.1_Silent_p.F462F|ZNF619_ENST00000456778.1_Silent_p.F427F|ZNF619_ENST00000314686.5_Silent_p.F455F NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 511 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ATGCAAGTTTCATCCAGCATC 0.498000 21 29 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160034 132160034 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:132160034T>G ENST00000511190.1 - 6 2684 c.2215A>C c.(2215-2217)Act>Cct p.T739P USP26_ENST00000406273.1_Missense_Mutation_p.T739P|USP26_ENST00000370832.1_Missense_Mutation_p.T739P NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 739 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) CACTGCTGAGTCTGTTCAGAC 0.418000 36 13 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58946342 58946342 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58946342G>A ENST00000254166.3 - 3 869 c.469C>T c.(469-471)Ctt>Ttt p.L157F NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TGCTGGTGAAGGTTTGCATTC 0.498000 20 51 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334253 77334253 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77334253G>A ENST00000282849.5 - 17 2999 c.2581C>T c.(2581-2583)Ccc>Tcc p.P861S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 861 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATGACCTTGGGAAGTGCATAC 0.478000 30 47 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151674 73151674 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:73151674G>A ENST00000377110.2 - 25 4562 c.4319C>T c.(4318-4320)cCt>cTt p.P1440L TRPM3_ENST00000358082.3_Missense_Mutation_p.P1302L|TRPM3_ENST00000377106.1_Missense_Mutation_p.P1312L|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1467L|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1299L|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1289L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1299L|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1312L|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1299L|TRPM3_ENST00000357533.2_Missense_Mutation_p.P1444L|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1302L NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1465 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ACTACTTGAAGGGGCTGTGGA 0.502000 27 53 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843639 4843639 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4843639G>A ENST00000322110.5 + 1 1089 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 342 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCATTTATGAATAAGTGCT 0.348000 7 25 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699493 153699493 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:153699493C>T ENST00000369682.3 + 31 5377 c.5202C>T c.(5200-5202)ttC>ttT p.F1734F NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1734 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCCGCAGTTCGTGTTCGACA 0.607000 52 16 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602410 14602410 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:14602410C>T ENST00000274217.3 + 5 587 c.467C>T c.(466-468)cCa>cTa p.P156L NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 156 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) ATCTCTTTTCCATCATGGATG 0.408000 22 39 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48820004 48820004 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:48820004G>A ENST00000218176.3 - 6 3079 c.1782C>T c.(1780-1782)ttC>ttT p.F594F KCND1_ENST00000376477.1_Silent_p.F217F NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 594 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGGCAGCCACGAAGTCCCGGC 0.617000 8 6 0 0 1 0 0 HMG20A 10363 broad.mit.edu 37 15 77769936 77769936 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:77769936C>T ENST00000381714.3 + 8 1083 c.655C>T c.(655-657)Cct>Tct p.P219S HMG20A_ENST00000336216.4_Missense_Mutation_p.P219S NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 219 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TTTTGACATCCCTATATTTAC 0.333000 17 28 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812716 31812716 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:31812716C>T ENST00000334067.3 + 1 120 c.71C>T c.(70-72)tCc>tTc p.S24F NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 24 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TATCCAGTTTCCACTTATAAT 0.458000 23 36 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2526745 2526745 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:2526745C>T ENST00000288709.6 - 16 1767 c.1527G>A c.(1525-1527)atG>atA p.M509I MMEL1_ENST00000378412.3_Missense_Mutation_p.M518I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M361I NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 518 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGCGCCTGTTCATCTCCTCCA 0.652000 16 36 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36055365 36055365 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:36055365C>T ENST00000409652.3 + 3 1030 c.754C>T c.(754-756)Ctc>Ttc p.L252F NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 252 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 CTTGGCCACTCTCTCAAAGGA 0.532000 26 74 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111130 81111130 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81111130G>A ENST00000228644.3 + 1 440 c.288G>A c.(286-288)ctG>ctA p.L96L NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 96 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.L96L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GGAGGCGCCTGAAGAAGGTCA 0.602000 13 28 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23203765 23203765 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:23203765C>T ENST00000300061.2 + 4 854 c.711C>T c.(709-711)atC>atT p.I237I NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 237 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ACATGAACATCATGGCACAGG 0.493000 29 53 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67199648 67199648 + Nonsense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67199648G>T ENST00000264009.8 + 5 1224 c.259G>T c.(259-261)Gag>Tag p.E87* HSF4_ENST00000584272.1_Nonsense_Mutation_p.E87*|RP11-5A19.5_ENST00000580114.1_3'UTR|HSF4_ENST00000521374.1_Nonsense_Mutation_p.E87*|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Nonsense_Mutation_p.E87* NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 87 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGTGAGCATCGAGCAGGGCGG 0.731000 11 10 2.32078e-09 2.34304e-09 1 1 0 PRB2 653247 broad.mit.edu 37 12 11546771 11546771 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:11546771G>C ENST00000389362.4 - 3 276 c.241C>G c.(241-243)Cca>Gca p.P81A PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.P81A(1)|p.P60A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGGTCCTTGTGGC 0.612000 8 240 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32099612 32099612 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32099612A>G ENST00000327423.6 - 6 6113 c.5924T>C c.(5923-5925)gTt>gCt p.V1975A PRR14L_ENST00000397493.2_Missense_Mutation_p.V1975A|PRR14L_ENST00000434485.1_Missense_Mutation_p.V1975A NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1975 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CAATCCACGAACCTGGAACTC 0.547000 30 96 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87614357 87614357 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:87614357G>A ENST00000327946.7 - 8 1214 c.1129C>T c.(1129-1131)Ctc>Ttc p.L377F NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 377 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ACCCCAGTGAGGCCAGTGATG 0.493000 Multiple Myeloma(13;0.14) 18 46 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519830 58519830 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:58519830G>A ENST00000302819.5 - 4 657 c.366C>T c.(364-366)ttC>ttT p.F122F ACOX2_ENST00000459701.2_Silent_p.F122F NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 122 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GGGCTCTCACGAAGACTCTGT 0.527000 15 48 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33477897 33477897 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:33477897C>T ENST00000404816.2 + 11 2506 c.2153C>T c.(2152-2154)cCc>cTc p.P718L LTBP1_ENST00000407925.1_Missense_Mutation_p.P392L|LTBP1_ENST00000402934.1_Missense_Mutation_p.P392L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P392L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P392L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P718L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P392L Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 718 TB 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAGAAATGTCCCCTTCCAGGC 0.542000 48 78 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416329 187416329 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:187416329A>G ENST00000358241.1 - 2 1063 c.635T>C c.(634-636)gTt>gCt p.V212A NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 212 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CAGGTAAACAACGAGCAGGCA 0.577000 11 16 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389873 150389873 + Missense_Mutation SNP G G A rs150902506 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150389873G>A ENST00000223293.5 + 3 593 c.499G>A c.(499-501)Gcc>Acc p.A167T NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 167 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGATAACAAAGCCCTAAGCAA 0.498000 59 57 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109615 98109615 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:98109615C>T ENST00000383695.1 + 1 106 c.106C>T c.(106-108)Ctg>Ttg p.L36L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TGCCATCTATCTGATCACCAT 0.403000 62 129 0 0 1 0 0 PYDC2 152138 broad.mit.edu 37 3 191179085 191179085 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:191179085C>A ENST00000518817.1 + 1 134 c.134C>A c.(133-135)aCa>aAa p.T45K NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 45 DAPIN. cytoplasm|nucleus p.T45R(1) breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 GTCCCCCAGACAGAGGTAGAC 0.532000 32 65 5.91797e-21 6.01798e-21 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106974288 106974288 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:106974288C>T ENST00000369701.3 + 18 2691 c.2464C>T c.(2464-2466)Cgg>Tgg p.R822W SORCS3_ENST00000369699.4_Missense_Mutation_p.R108W NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 822 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAAAGCCCCTCGGGGCCTCCA 0.572000 15 26 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73376484 73376484 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:73376484G>A ENST00000377101.1 - 8 1194 c.846C>T c.(844-846)ctC>ctT p.L282L TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000360823.2_Intron Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1000 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGAAAATGTGGAGACAGCTGG 0.458000 18 34 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901678 166901678 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:166901678C>T ENST00000423058.2 - 10 1554 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K SCN1A_ENST00000375405.3_Missense_Mutation_p.E513K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E513K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E513K|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 513 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTTCTCTTCCCCACCAGAC 0.433000 50 132 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47646828 47646828 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:47646828C>T ENST00000398742.2 + 3 274 c.225C>T c.(223-225)atC>atT p.I75I GPR111_ENST00000507065.1_Silent_p.I75I|GPR111_ENST00000296862.1_Silent_p.I143I Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 143 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GGCACAAGATCACTGACACCT 0.443000 57 42 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274262 68274262 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:68274262A>C ENST00000347230.4 - 5 877 c.739T>G c.(739-741)Tgc>Ggc p.C247G ZFYVE26_ENST00000555452.1_Missense_Mutation_p.C247G NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 247 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCGGTCCTGCAGGCCTCTAGT 0.632000 7 20 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975326 37975326 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37975326C>T ENST00000330173.1 + 5 1331 c.802C>T c.(802-804)Cat>Tat p.H268Y ZNF570_ENST00000586475.1_Missense_Mutation_p.H324Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.H65Y NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGGATTCATACTGGAGA 0.393000 22 52 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020494 5020494 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5020494C>T ENST00000321543.1 + 1 282 c.282C>T c.(280-282)atC>atT p.I94I NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCAGAGATCCAGGCAAGTG 0.478000 34 89 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845224 50845224 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50845224C>T ENST00000359139.3 + 4 728 c.334C>T c.(334-336)Cat>Tat p.H112Y PPP6R2_ENST00000395741.3_Missense_Mutation_p.H112Y|PPP6R2_ENST00000216061.5_Missense_Mutation_p.H112Y|PPP6R2_ENST00000395744.3_Missense_Mutation_p.H112Y NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 112 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CTTCTTGGACCATGAGCCGCC 0.532000 88 293 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23873577 23873577 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23873577G>A ENST00000405093.3 - 8 733 c.663C>T c.(661-663)atC>atT p.I221I MYH6_ENST00000356287.3_Silent_p.I221I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 221 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.I221I(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGCCTGGATGATCTGGTCCT 0.612000 44 77 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68772326 68772326 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:68772326C>T ENST00000303795.4 + 8 1339 c.1168C>T c.(1168-1170)Cct>Tct p.P390S APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 390 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 TAGGAAGAATCCTGTTCATTT 0.408000 23 52 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49937233 49937233 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:49937233G>A ENST00000257981.6 + 5 1015 c.755G>A c.(754-756)cGg>cAg p.R252Q KCNH3_ENST00000550434.1_3'UTR NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 252 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGCACAGCACGGGAGCCCAGT 0.662000 25 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499494 179499494 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179499494T>A ENST00000589042.1 - 229 42331 c.42107A>T c.(42106-42108)tAc>tTc p.Y14036F TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y4971F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y12395F|TTN_ENST00000342992.6_Missense_Mutation_p.Y11468F|TTN_ENST00000342175.6_Missense_Mutation_p.Y5163F|TTN_ENST00000359218.5_Missense_Mutation_p.Y5096F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12395 Fibronectin type-III 1. 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) AAGGGCCTGGTAGAGGACTTC 0.413000 46 55 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87671632 87671632 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87671632C>T ENST00000436978.1 + 18 3140 c.2660C>T c.(2659-2661)tCg>tTg p.S887L PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000411767.2_Missense_Mutation_p.S887L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 887 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.S887L(2) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GAGAGAGCTTCGTTTAGGAGC 0.413000 46 109 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086771 39086771 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:39086771G>A ENST00000400482.3 - 3 1278 c.689C>T c.(688-690)tCc>tTc p.S230F KCNJ6_ENST00000288309.6_Missense_Mutation_p.S230F NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 230 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CACAATGTGGGAATTCCTAAG 0.532000 17 42 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002450 98002450 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:98002450G>A ENST00000355273.2 + 1 719 c.719G>A c.(718-720)aGg>aAg p.R240K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AGAGGCGTAAGGAAAGCCTTT 0.408000 11 16 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924520 70924520 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70924520C>G ENST00000603540.1 + 2 562 c.304C>G c.(304-306)Cag>Gag p.Q102E ADAM21_ENST00000267499.3_Missense_Mutation_p.Q102E|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 102 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCTGGAGGATCAGCTCTTCAT 0.507000 14 108 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22155674 22155674 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:22155674A>G ENST00000389398.5 + 26 2795 c.2699A>G c.(2698-2700)cAc>cGc p.H900R VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 900 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) TCCGCCAAACACTGCAGCATC 0.468000 9 30 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539327 55539327 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:55539327G>A ENST00000220676.1 + 4 3033 c.2885G>A c.(2884-2886)gGa>gAa p.G962E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 962 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACAAATTCTGGAAAAATAAGT 0.313000 54 27 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651266 96651266 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:96651266C>T ENST00000302103.5 + 3 561 c.235C>T c.(235-237)Ctt>Ttt p.L79F NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 79 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GACCTTTGACCTTACATCCTG 0.433000 30 23 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320321 90320321 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90320321C>T ENST00000341735.3 + 1 733 c.733C>T c.(733-735)Ccc>Tcc p.P245S MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 245 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CGACACGGATCCCTGGGCAAC 0.701000 7 10 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107102665 107102665 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:107102665C>T ENST00000369046.4 + 8 1014 c.910C>T c.(910-912)Ctc>Ttc p.L304F NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 304 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGCTGCTGACCTCTTTGAGTC 0.403000 28 23 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107595973 107595973 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:107595973C>T ENST00000393561.1 - 19 3049 c.2865G>A c.(2863-2865)agG>agA p.R955R LAMB1_ENST00000222399.6_Silent_p.R931R P07942 LAMB1_HUMAN laminin, beta 1 931 Laminin EGF-like 9. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAGCAGCTCCTGGCAAACT 0.532000 16 29 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50450395 50450395 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50450395G>A ENST00000331340.3 + 5 734 c.579G>A c.(577-579)agG>agA p.R193R IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.R106R|IKZF1_ENST00000359197.5_Silent_p.R193R|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Silent_p.R193R|IKZF1_ENST00000357364.4_Silent_p.R193R|IKZF1_ENST00000343574.5_Silent_p.R106R|IKZF1_ENST00000439701.1_Silent_p.R193R NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 193 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCACCTGAGGACGCACTCCG 0.657000 """D,T""" BCL6 """ALL, DLBCL""" 8 13 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67404995 67404995 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67404995G>A ENST00000329956.6 + 9 1363 c.1344G>A c.(1342-1344)cgG>cgA p.R448R LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.R327R|LRRC36_ENST00000563189.1_Silent_p.R327R|LRRC36_ENST00000290940.7_Silent_p.R180R NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 448 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTCCTCTGCGGACACTGCTGT 0.463000 19 35 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066540 67066540 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67066540G>A ENST00000315962.4 + 9 1868 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.E499K|TRIM55_ENST00000353317.5_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 499 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAGTGGTAAGGAAACTAGTGC 0.562000 63 24 0 0 1 0 0 SAMD13 148418 broad.mit.edu 37 1 84768944 84768944 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:84768944G>A ENST00000370673.3 + 2 261 c.69G>A c.(67-69)aaG>aaA p.K23K SAMD13_ENST00000370668.3_Silent_p.K9K|SAMD13_ENST00000370670.2_Silent_p.K9K|SAMD13_ENST00000370671.3_Silent_p.K29K|SAMD13_ENST00000370669.1_Silent_p.K9K|SAMD13_ENST00000394834.3_Silent_p.K9K NM_001010971.2 NP_001010971.1 Q5VXD3 SAM13_HUMAN sterile alpha motif domain containing 13 29 lung(4) 4 all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136) TGGAAAACAAGGAAAATGGCT 0.398000 10 16 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28821586 28821586 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:28821586G>A ENST00000422425.2 + 34 2444 c.2400G>A c.(2398-2400)acG>acA p.T800T PLB1_ENST00000327757.5_Silent_p.T811T NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 811 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCAATGACACGAATGCATTCC 0.542000 43 118 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409743 13409743 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13409743C>T ENST00000360228.5 - 19 2703 c.2704G>A c.(2704-2706)Gac>Aac p.D902N CACNA1A_ENST00000573710.2_Missense_Mutation_p.D903N NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 903 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGTGGTGGTCCGACTCGCGG 0.776000 7 10 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35043234 35043234 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:35043234A>G ENST00000312292.5 + 2 655 c.608A>G c.(607-609)cAc>cGc p.H203R C9orf131_ENST00000354479.5_Missense_Mutation_p.H130R|C9orf131_ENST00000421362.2_Missense_Mutation_p.H155R NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 203 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CCCTCTCTGCACAGCGAGTCC 0.537000 17 58 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160260340 160260340 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160260340G>A ENST00000241704.7 - 32 3786 c.3557C>T c.(3556-3558)cCa>cTa p.P1186L COPA_ENST00000368069.3_Missense_Mutation_p.P1195L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1186 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCACTGAGTGGACACTTTTC 0.463000 34 49 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49696509 49696509 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:49696509G>A ENST00000433368.2 - 8 810 c.741C>T c.(739-741)acC>acT p.T247T CRISP3_ENST00000371159.4_Silent_p.T255T|CRISP3_ENST00000263045.4_Silent_p.T237T|CRISP3_ENST00000423399.2_Silent_p.T134T|CRISP3_ENST00000393666.1_Silent_p.T224T NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 224 innate immune response proteinaceous extracellular matrix|specific granule p.T224T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GATGTTTACAGGTTAATGTGA 0.378000 37 98 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025799 79025799 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:79025799G>A ENST00000446378.2 + 2 1242 c.1211G>A c.(1210-1212)gGa>gAa p.G404E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 404 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCTTCACCAGGAACTGCAGCT 0.453000 12 16 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048127 105048127 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:105048127G>A ENST00000369849.4 + 3 1250 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 401 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GAAACTGCTGGAAGGCGAGGA 0.468000 30 58 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34028938 34028938 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:34028938C>T ENST00000382065.3 - 4 1327 c.621G>A c.(619-621)ggG>ggA p.G207G C1QTNF3_ENST00000231338.7_Silent_p.G134G|C1QTNF3_ENST00000513065.1_5'UTR NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 134 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) TGAAGATAATCCCACTGTTCT 0.403000 12 29 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352118 15352118 + RNA SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:15352118C>G ENST00000344693.5 - 0 640 NR_027270.1 CCTTGTGGATCTTCTGCAGTT 0.642000 4 15 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12666399 12666399 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:12666399T>G ENST00000297029.5 + 8 1273 c.1172T>G c.(1171-1173)gTg>gGg p.V391G SCIN_ENST00000445618.2_Missense_Mutation_p.V144G|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Missense_Mutation_p.V144G NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 391 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CACAATATGGTGGATGATGGT 0.433000 6 9 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64738852 64738852 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:64738852G>A ENST00000413366.3 + 13 1524 c.1498G>A c.(1498-1500)Ggg>Agg p.G500R NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 500 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GACCTTCTGTGGGACTCCAGA 0.483000 11 39 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70986244 70986244 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70986244C>T ENST00000334414.6 - 7 1642 c.1598G>A c.(1597-1599)gGa>gAa p.G533E PTPRB_ENST00000551525.1_Missense_Mutation_p.G532E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 315 Fibronectin type-III 6. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATCCACATTTCCAGGAGGTCT 0.413000 8 11 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94120290 94120290 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94120290G>A ENST00000553484.1 + 39 6538 c.6384G>A c.(6382-6384)ggG>ggA p.G2128G UNC79_ENST00000256339.4_Silent_p.G1929G|UNC79_ENST00000393151.2_Silent_p.G2106G|UNC79_ENST00000555664.1_Silent_p.G2067G Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2106 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTCCAGATGGGACTTTTTTAC 0.483000 54 111 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596291 48596291 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:48596291T>C ENST00000310248.2 - 1 879 c.785A>G c.(784-786)aAc>aGc p.N262S NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GCTGTGGGGGTTCATGTAAGA 0.493000 9 26 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55890037C>T ENST00000313472.3 + 1 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 81 157 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137772724 137772724 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:137772724C>T ENST00000350339.2 + 1 71 c.57C>T c.(55-57)ttC>ttT p.F19F FCN2_ENST00000291744.6_Silent_p.F19F NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 19 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) TGCTCTCTTTCCTGGGCATGG 0.612000 8 11 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46264143 46264143 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:46264143C>T ENST00000372004.3 + 11 1406 c.1190C>T c.(1189-1191)tCg>tTg p.S397L NCOA3_ENST00000341724.6_Missense_Mutation_p.S407L|NCOA3_ENST00000371998.3_Missense_Mutation_p.S397L|NCOA3_ENST00000371997.3_Missense_Mutation_p.S407L NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 397 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGCAACAGTTCGGTAGGCGGC 0.502000 26 31 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098365 21098365 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21098365C>T ENST00000261383.3 - 19 2681 c.2682G>A c.(2680-2682)ctG>ctA p.L894L DNAH3_ENST00000415178.1_Silent_p.L894L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 894 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTCAGCATTCAGTAAGAAGA 0.468000 31 59 0 0 1 0 0 CLK3 1198 broad.mit.edu 37 15 74912474 74912474 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:74912474C>T ENST00000395066.3 + 3 1182 c.721C>T c.(721-723)Cgg>Tgg p.R241W CLK3_ENST00000348245.3_Missense_Mutation_p.R93W|CLK3_ENST00000352989.5_Missense_Mutation_p.R93W|CLK3_ENST00000345005.4_Missense_Mutation_p.R93W NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 241 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TCGTCATCGTCGGCGATCGCG 0.627000 62 109 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155655416 155655416 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155655416C>T ENST00000496455.1 + 16 2352 c.2017C>T c.(2017-2019)Cct>Tct p.P673S GMPS_ENST00000295920.7_Missense_Mutation_p.P574S NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 673 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TAAGAAGATTCCTGGTATTTC 0.383000 T MLL AML 12 36 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070575 32070575 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:32070575G>A ENST00000566806.1 - 0 499 CTGGGGCTGAGGTGAAGAAGC 0.587000 13 42 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886880 55886880 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55886880C>T ENST00000379662.1 + 1 734 c.734C>T c.(733-735)tCt>tTt p.S245F RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.S240F|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TCTACCTGTTCTTCACATATT 0.348000 16 29 0 0 1 0 0 ORAOV1 220064 broad.mit.edu 37 11 69487993 69487993 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:69487993G>A ENST00000279147.4 - 2 254 c.147C>T c.(145-147)atC>atT p.I49I ORAOV1_ENST00000535657.1_Silent_p.I49I|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000539414.1_Silent_p.I49I|ORAOV1_ENST00000542341.1_Silent_p.I49I NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 49 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CCTCAGACCCGATTTTGGCTC 0.463000 31 51 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31090316 31090316 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31090316C>T ENST00000394979.2 + 1 3094 c.2671C>T c.(2671-2673)Cct>Tct p.P891S ZNF646_ENST00000300850.5_Missense_Mutation_p.P891S O15015 ZN646_HUMAN zinc finger protein 646 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CATGATCTTCCCTGGGCGGGC 0.642000 17 20 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631397 9631397 + Missense_Mutation SNP C C T rs76912039 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:9631397C>T ENST00000570827.2 + 15 2603 c.1529C>T c.(1528-1530)tCc>tTc p.S510F USP43_ENST00000285199.6_Missense_Mutation_p.S821F|USP43_ENST00000570475.1_Missense_Mutation_p.S816F Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 821 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TCCTTTGGATCCAAGGAGAAA 0.577000 7 12 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6043355 6043355 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:6043355G>A ENST00000265849.7 - 4 424 c.319C>T c.(319-321)Cgg>Tgg p.R107W PMS2_ENST00000382321.4_Missense_Mutation_p.R107W|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R107W NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 107 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GCTTCCCCCCGAAAGCCAAAA 0.403000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 19 32 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9721101 9721101 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9721101C>T ENST00000302851.3 - 6 1599 c.1236G>A c.(1234-1236)ttG>ttA p.L412L ZNF561_ENST00000424629.1_Silent_p.L343L|ZNF561_ENST00000354661.4_Silent_p.L276L|ZNF561_ENST00000326044.5_3'UTR NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L343F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TATGAGTTTTCAAATGTTTAC 0.408000 35 72 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38843419 38843419 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:38843419C>T ENST00000359357.3 + 51 7276 c.7022C>T c.(7021-7023)tCc>tTc p.S2341F DNAH8_ENST00000449981.2_Missense_Mutation_p.S2558F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2305F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGCGGTGTTTCCTGTGTCGAA 0.338000 13 67 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41000860 41000860 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41000860T>G ENST00000399564.4 - 38 4720 c.4270A>C c.(4270-4272)Att>Ctt p.I1424L MROH2B_ENST00000506092.2_Missense_Mutation_p.I979L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCAAAAAAAATCTTCCACCTT 0.458000 3 5 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101598822 101598822 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:101598822C>T ENST00000335681.5 + 16 1897 c.1612C>T c.(1612-1614)Cag>Tag p.Q538* NPAS2_ENST00000542504.1_Nonsense_Mutation_p.Q603* NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 538 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCCTGGTCCAGGACTCCAA 0.627000 7 21 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992432 42992432 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:42992432C>T ENST00000253408.5 - 1 488 c.423G>A c.(421-423)agG>agA p.R141R GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.R141R|GFAP_ENST00000435360.2_Silent_p.R141R NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 141 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) CCAGATTGTCCCTCTCAACCT 0.637000 10 28 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6833197 6833197 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:6833197C>T ENST00000304076.2 + 16 1605 c.1511C>T c.(1510-1512)tCc>tTc p.S504F VAV1_ENST00000599806.1_Missense_Mutation_p.S449F|VAV1_ENST00000602142.1_Missense_Mutation_p.S504F|VAV1_ENST00000596764.1_Missense_Mutation_p.S472F|VAV1_ENST00000539284.1_Missense_Mutation_p.S407F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 504 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCTGCCAGCTCCAACATCTAT 0.433000 10 25 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466513 74466513 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:74466513G>A ENST00000394019.2 - 21 2665 c.2268C>T c.(2266-2268)tcC>tcT p.S756S SLC4A5_ENST00000377632.1_Silent_p.S756S|SLC4A5_ENST00000359484.4_Silent_p.S692S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.S756S|SLC4A5_ENST00000357822.5_Silent_p.S756S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.S756S|SLC4A5_ENST00000358683.4_Silent_p.S692S|SLC4A5_ENST00000346834.4_Silent_p.S756S NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 756 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCAGGGTCATGGAGTATGTCC 0.532000 24 43 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279916 47279916 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47279916G>A ENST00000271153.4 + 7 844 c.808G>A c.(808-810)Gat>Aat p.D270N CYP4B1_ENST00000371923.4_Missense_Mutation_p.D271N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D256N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D108N P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 270 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGCCCTGCAGGATGAGAAGGT 0.577000 28 24 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106121872 106121872 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:106121872T>G ENST00000369704.3 + 3 517 c.383T>G c.(382-384)gTg>gGg p.V128G CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 128 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGGAAATAGTGAACCTGACC 0.463000 5 15 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61537154 61537154 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:61537154A>G ENST00000370371.4 - 6 2028 c.1673T>C c.(1672-1674)gTt>gCt p.V558A DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000370368.1_Missense_Mutation_p.V558A|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000354665.4_Missense_Mutation_p.V558A NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CAAAGCTGCAACTCCCAGTCC 0.562000 24 44 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720152 160720152 + Silent SNP C C T rs144271994 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160720152C>T ENST00000368043.3 + 4 745 c.708C>T c.(706-708)ctC>ctT p.L236L SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L129L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L236L|SLAMF7_ENST00000458104.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 236 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGCCCCTCCTGCTCAGTC 0.502000 57 124 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979437 124979437 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:124979437G>A ENST00000368417.1 + 4 439 c.379G>A c.(379-381)Gcc>Acc p.A127T NKAIN2_ENST00000368416.1_Missense_Mutation_p.A127T|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.A112T NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 127 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CCCAGACTGGGCCCCAGAAGA 0.507000 29 19 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209800749 209800749 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209800749G>A ENST00000391911.1 - 11 1853 c.1464C>T c.(1462-1464)tcC>tcT p.S488S LAMB3_ENST00000356082.4_Silent_p.S488S|LAMB3_ENST00000367030.3_Silent_p.S488S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 488 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GTGGGCTGAGGGAGTTGTGCG 0.657000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 28 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142609794 142609794 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142609794C>T ENST00000265310.1 - 13 1990 c.1642G>A c.(1642-1644)Gac>Aac p.D548N NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 548 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.D548N(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AAGTCCACGTCGTAGTTGGCA 0.507000 32 132 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119273766 119273766 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:119273766G>A ENST00000296498.3 - 1 392 c.110C>T c.(109-111)cCc>cTc p.P37L NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 37 Pro-rich. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 ACCCGCAGGGGGCGAATGGCG 0.697000 4 8 0 0 1 0 0 CSRP1 1465 broad.mit.edu 37 1 201465403 201465403 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:201465403C>G ENST00000367306.1 - 3 392 c.29G>C c.(28-30)tGt>tCt p.C10S CSRP1_ENST00000533432.1_Missense_Mutation_p.C10S|CSRP1_ENST00000532460.1_Missense_Mutation_p.C10S|CSRP1_ENST00000531916.1_Missense_Mutation_p.C10S|CSRP1_ENST00000340006.2_Missense_Mutation_p.C10S|CSRP1_ENST00000526723.1_Missense_Mutation_p.C10S|CSRP1_ENST00000458271.2_5'UTR P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 10 LIM zinc-binding 1. nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 ACACACCCCACATTTCTTGCC 0.493000 38 92 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099283 169099283 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:169099283C>T ENST00000494292.1 - 2 164 c.67G>A c.(67-69)Gaa>Aaa p.E23K MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 23 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAAGGTATTTCAGGGTAGTTG 0.433000 8 14 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891225 11891225 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11891225C>T ENST00000357901.4 + 4 688 c.586C>T c.(586-588)Cgt>Tgt p.R196C ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGATGGACCTCGTATATGTAA 0.398000 23 57 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58285260 58285260 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:58285260G>A ENST00000249750.4 - 6 1334 c.567C>T c.(565-567)ccC>ccT p.P189P ALDH1A2_ENST00000537372.1_Silent_p.P168P|ALDH1A2_ENST00000347587.3_Silent_p.P189P|ALDH1A2_ENST00000558231.1_Silent_p.P160P|ALDH1A2_ENST00000559517.1_Silent_p.P93P NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 189 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACATCAGCAGGGGGAAGTTCC 0.413000 14 28 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158970531 158970531 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:158970531G>A ENST00000485419.1 + 3 259 c.90G>A c.(88-90)atG>atA p.M30I IQCJ_ENST00000451172.1_Missense_Mutation_p.M30I|IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.M30I|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000481796.1_Intron NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AGCTGGCCATGGATGCAGAGA 0.333000 12 20 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19699555 19699555 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19699555G>A ENST00000395544.4 - 19 2349 c.1850C>T c.(1849-1851)tCc>tTc p.S617F ULK2_ENST00000361658.2_Missense_Mutation_p.S617F NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 617 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TAACAGGTTGGAAGATGCTTG 0.413000 23 33 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28808689 28808689 + Missense_Mutation SNP G G A rs150817073 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:28808689G>A ENST00000422425.2 + 25 1806 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K PLB1_ENST00000329020.6_Missense_Mutation_p.E287K|PLB1_ENST00000327757.5_Missense_Mutation_p.E599K NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 599 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TACCCTCATCGAATTCAACAA 0.463000 21 48 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207430 58207430 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:58207430G>A ENST00000377918.3 + 1 776 c.750G>A c.(748-750)gtG>gtA p.V250V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 250 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCTACTTGGTGGAACTGCCCG 0.582000 22 38 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41590762 41590762 + Silent SNP G G C rs150512730 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:41590762G>C ENST00000262415.3 + 17 2607 c.2535G>C c.(2533-2535)tcG>tcC p.S845S DHX8_ENST00000540306.1_Silent_p.S845S NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 845 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CAGAGACATCGCTGACTATTG 0.512000 41 82 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233882 28233882 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28233882G>A ENST00000305242.5 - 11 1488 c.1396C>T c.(1396-1398)Caa>Taa p.Q466* ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q158*|ARMC4_ENST00000480504.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 466 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTAGCTGTTTGATTTCCTCCC 0.448000 22 47 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70735934 70735934 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70735934G>A ENST00000551483.1 + 3 4334 c.179G>A c.(178-180)cGa>cAa p.R60Q CNOT2_ENST00000418359.3_Missense_Mutation_p.R409Q|CNOT2_ENST00000229195.3_Missense_Mutation_p.R409Q Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 409 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCACCTTGTCGACCTCAAGAC 0.328000 33 74 0 0 1 0 0 TRGV8 6982 broad.mit.edu 37 7 38370206 38370206 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:38370206C>T ENST00000390343.2 - 0 205 CCCAGTTGGCCTGGTGACTGA 0.483000 22 42 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918765 16918765 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16918765G>A ENST00000524140.2 + 18 4523 c.4105G>A c.(4105-4107)Ggg>Agg p.G1369R NWD1_ENST00000339803.6_Missense_Mutation_p.G1234R|NWD1_ENST00000379808.3_Missense_Mutation_p.G1369R|NWD1_ENST00000549814.1_Missense_Mutation_p.G1327R|NWD1_ENST00000523826.1_Missense_Mutation_p.G1163R|NWD1_ENST00000552788.1_Missense_Mutation_p.G1369R NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1369 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGACCAATGGGGACCTCTT 0.562000 55 113 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104139016 104139016 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104139016G>A ENST00000388887.2 + 57 6301 c.6097G>A c.(6097-6099)Gaa>Aaa p.E2033K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2033 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGCCTCTGTGAAACGGGGTG 0.602000 7 26 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16729619 16729619 + Nonsense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:16729619G>T ENST00000246081.2 + 2 267 c.223G>T c.(223-225)Gaa>Taa p.E75* NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 75 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 GCTGGTAAAAGAAAATGGAGC 0.393000 9 20 0.00621372 0.00622258 1 1 0 BRD3 8019 broad.mit.edu 37 9 136913436 136913436 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:136913436G>A ENST00000303407.7 - 6 1040 c.855C>T c.(853-855)ccC>ccT p.P285P BRD3_ENST00000357885.2_Silent_p.P285P|BRD3_ENST00000371834.2_Silent_p.P285P NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 285 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GAGGCTTGATGGGGCGGCCAC 0.677000 T C15orf55 lethal midline carcinoma of young people 16 31 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243362492 243362492 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:243362492A>G ENST00000366542.1 - 7 552 c.501T>C c.(499-501)atT>atC p.I167I CEP170_ENST00000366543.1_Silent_p.I167I|CEP170_ENST00000366544.1_Silent_p.I167I NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 167 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GCATAGCAGAAATATCTGGAA 0.423000 7 22 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576965 28576965 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28576965C>T ENST00000434452.1 - 15 2439 c.2285G>A c.(2284-2286)gGt>gAt p.G762D DSC3_ENST00000360428.4_Missense_Mutation_p.G762D NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 762 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACCACAAAAACCTTGGCTAGA 0.413000 10 59 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616249 179616249 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179616249C>T ENST00000360870.5 - 46 11100 c.10878G>A c.(10876-10878)agG>agA p.R3626R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9475 Ig-like 22. 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) TATCTTCTCCCCTTTCAACTA 0.368000 27 76 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50148193 50148193 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:50148193C>T ENST00000347869.3 + 17 1620 c.1445C>T c.(1444-1446)cCc>cTc p.P482L RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 482 Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TATTATGACCCCAACTCGCAA 0.398000 28 43 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346525 70346525 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:70346525C>T ENST00000305107.6 - 6 1460 c.1414G>A c.(1414-1416)Gga>Aga p.G472R UGT2B4_ENST00000381096.3_Missense_Mutation_p.G336R|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 472 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGCTTGGCTCCTTTATGGCGC 0.483000 51 89 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53238373 53238373 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53238373C>T ENST00000359499.4 - 5 572 c.561G>A c.(559-561)aaG>aaA p.K187K KRT78_ENST00000304620.4_Silent_p.K297K Q8N1N4 K2C78_HUMAN keratin 78 297 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGCCTCAGCCTTGCTGCTCC 0.612000 38 64 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110017717 110017717 + Missense_Mutation SNP C C T rs104895370 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:110017717C>T ENST00000228510.3 + 4 413 c.337C>T c.(337-339)Ctt>Ttt p.L113F MVK_ENST00000392727.3_Missense_Mutation_p.L113F|MVK_ENST00000539575.1_Missense_Mutation_p.L113F|MVK_ENST00000541384.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 113 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 GCTGGCCTTTCTTTACTTATA 0.547000 13 26 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587315 55587315 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55587315G>A ENST00000333976.4 + 1 230 c.210G>A c.(208-210)gtG>gtA p.V70V NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCTCCTTTGTGGATTTCTGCT 0.408000 71 171 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 77 45 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32037545 32037545 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32037545G>A ENST00000375244.3 - 15 5573 c.5372C>T c.(5371-5373)tCc>tTc p.S1791F TNXB_ENST00000375247.2_Missense_Mutation_p.S1791F P22105 TENX_HUMAN tenascin XB 1873 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.S1878F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGGCCCACGGAGTTCTGGGT 0.617000 11 24 0 0 1 0 0 VPS72 6944 broad.mit.edu 37 1 151162562 151162562 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151162562G>A ENST00000354473.4 - 1 72 c.36C>T c.(34-36)acC>acT p.T12T VPS72_ENST00000496809.1_Intron NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 12 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTTCCCAGCGGTCTTCCGGG 0.632000 38 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612356 179612356 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179612356C>T ENST00000360870.5 - 46 14993 c.14771G>A c.(14770-14772)aGa>aAa p.R4924K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1051 Ig-like 29. 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) TGCCTGGTCTCTGGTGTCTTT 0.443000 27 38 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1257820 1257820 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1257820C>T ENST00000348261.5 + 15 3362 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F CACNA1H_ENST00000358590.4_Silent_p.F1038F|CACNA1H_ENST00000565831.1_Silent_p.F1038F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1038 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGGTCCACTTCGAGGAGGACT 0.632000 5 8 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126726729 126726729 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:126726729C>T ENST00000251772.4 + 8 2085 c.2016C>T c.(2014-2016)ttC>ttT p.F672F PLXNA1_ENST00000393409.2_Silent_p.F695F Q9UIW2 PLXA1_HUMAN plexin A1 695 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGCGCCTTCCTGGAGGGCC 0.602000 7 37 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067151 190067151 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:190067151A>G ENST00000367462.3 - 8 2529 c.2298T>C c.(2296-2298)agT>agC p.S766S FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.S664S NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 766 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTTATGGTTAACTACATAATT 0.373000 46 32 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67328566 67328566 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67328566C>T ENST00000304372.5 - 11 1562 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 503 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) AAAGCTTCTTCATTTTCAGAT 0.493000 23 60 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838865 16838865 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:16838865G>A ENST00000355661.3 - 11 1358 c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P450S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P450S Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 450 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGGTCCAAGGGAAGACTGAGG 0.572000 20 23 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924458 24924458 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24924458G>A ENST00000329468.2 + 1 3918 c.3444G>A c.(3442-3444)agG>agA p.R1148R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CATATGTTAGGAGACATGTCT 0.433000 28 70 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24896075 24896075 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24896075G>A ENST00000326010.5 + 2 449 c.104_splice c.e2-1 p.R35_splice UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Splice_Site_p.R35_splice NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta 35 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCCCATCTAGGAAGCTTGATC 0.488000 28 95 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347201 57347201 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57347201G>A ENST00000361249.3 + 5 644 c.548G>A c.(547-549)gGg>gAg p.G183E NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 183 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GTATACAATGGGGAATGGAGG 0.463000 29 78 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114299467 114299467 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:114299467T>G ENST00000408937.3 + 13 1974 c.1600T>G c.(1600-1602)Tat>Gat p.Y534D FOXP2_ENST00000403559.4_Missense_Mutation_p.Y526D|FOXP2_ENST00000393494.2_Missense_Mutation_p.Y509D|FOXP2_ENST00000393489.3_Missense_Mutation_p.Y417D|FOXP2_ENST00000393498.2_Missense_Mutation_p.Y488D|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.Y509D|FOXP2_ENST00000393491.3_Intron NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 509 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TCCATTTACTTATGCAACTCT 0.299000 24 112 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947780 40947780 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40947780G>A ENST00000322354.3 - 2 704 c.208C>T c.(208-210)Cgc>Tgc p.R70C SERTAD3_ENST00000392028.4_Missense_Mutation_p.R70C NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 70 SERTA. negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGCCAGGCGAAGTGCAGCC 0.657000 5 13 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438184 85438184 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:85438184C>T ENST00000394573.1 + 6 493 c.291C>T c.(289-291)ttC>ttT p.F97F SLC28A1_ENST00000286749.3_Silent_p.F97F|SLC28A1_ENST00000537703.1_Silent_p.F19F|SLC28A1_ENST00000338602.2_Silent_p.F97F|SLC28A1_ENST00000538177.1_Silent_p.F97F|SLC28A1_ENST00000537216.1_Silent_p.F97F|SLC28A1_ENST00000537624.1_Silent_p.F97F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 97 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTCTGCCTTCCTGCTGGTGG 0.642000 24 39 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32413596 32413596 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:32413596G>A ENST00000332351.3 - 9 1638 c.1354C>T c.(1354-1356)Cag>Tag p.Q452* WT1_ENST00000530998.1_Nonsense_Mutation_p.Q223*|WT1_ENST00000379079.2_Nonsense_Mutation_p.Q240*|WT1_ENST00000448076.3_Nonsense_Mutation_p.Q452* NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 384 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GTTTTACACTGGAATGGTTTC 0.512000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 69 94 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35045502 35045502 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:35045502G>A ENST00000312292.5 + 2 2923 c.2876G>A c.(2875-2877)gGg>gAg p.G959E C9orf131_ENST00000354479.5_Missense_Mutation_p.G886E|C9orf131_ENST00000421362.2_Missense_Mutation_p.G911E NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 959 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CATAGAAGAGGGACTGCAAGG 0.537000 36 69 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1280382 1280382 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:1280382G>A ENST00000310581.5 - 4 1898 c.1841C>T c.(1840-1842)cCc>cTc p.P614L TERT_ENST00000334602.6_Missense_Mutation_p.P614L|TERT_ENST00000296820.5_Missense_Mutation_p.P614L|TERT_ENST00000508104.2_Missense_Mutation_p.P614L NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 614 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CAGCAGGGCGGGCCTGGCTTC 0.627000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 31 48 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327730 52327730 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52327730C>T ENST00000339223.4 + 2 908 c.729C>T c.(727-729)ttC>ttT p.F243F FPR3_ENST00000595991.1_Silent_p.F243F NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 243 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TACGTGTCTTCGCTGCTGTGG 0.448000 9 16 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564645 66564645 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:66564645G>A ENST00000360242.5 + 6 1360 c.1243G>A c.(1243-1245)Gat>Aat p.D415N CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D415N|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D415N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D415N NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 415 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GTCACAAATTGATCTGCAAGA 0.408000 55 188 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133475801 133475801 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:133475801G>A ENST00000402696.3 + 7 1303 c.818G>A c.(817-819)cGa>cAa p.R273Q TF_ENST00000264998.3_Missense_Mutation_p.R146Q NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 273 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTCGTGGCCCGAAGTATGGGC 0.592000 40 58 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 145 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111945034 111945034 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:111945034G>A ENST00000374566.3 - 24 2979 c.2462C>T c.(2461-2463)aCt>aTt p.T821I NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 821 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTGGTGAAAGTATCAGGAAA 0.423000 38 97 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101520721 101520721 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:101520721C>T ENST00000422132.1 + 2 933 c.736C>T c.(736-738)Ccc>Tcc p.P246S NXPE3_ENST00000491511.1_Missense_Mutation_p.P246S|NXPE3_ENST00000477909.1_Missense_Mutation_p.P246S|NXPE3_ENST00000273347.5_Missense_Mutation_p.P246S neurexophilin and PC-esterase domain family, member 3 CACTGGGGAGCCCTGGTTCTG 0.493000 25 51 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165772482 165772482 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:165772482G>A ENST00000303735.4 - 6 715 c.383_splice c.e6-1 p.P129_splice SLC38A11_ENST00000409058.1_Splice_Site_p.P182_splice|SLC38A11_ENST00000409662.1_Splice_Site_p.P151_splice|SLC38A11_ENST00000409149.3_Splice_Site_p.P151_splice|SLC38A11_ENST00000493887.1_5'UTR NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 151 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 TCTGTTTTTGGTCTAGAAGAA 0.358000 40 81 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150704308 150704308 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150704308G>A ENST00000297494.3 + 17 2413 c.2056G>A c.(2056-2058)Gac>Aac p.D686N NOS3_ENST00000461406.1_Missense_Mutation_p.D480N NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 686 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.D686Y(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGCCAGGGCGACGAGCTGTG 0.716000 15 69 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402346 47402346 + Missense_Mutation SNP C C T rs144065752 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47402346C>T ENST00000310638.4 - 4 531 c.500G>A c.(499-501)cGa>cAa p.R167Q CYP4A11_ENST00000371905.1_Missense_Mutation_p.R167Q|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.R63Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R167Q NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 167 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) CAGCATCACTCGTACAGAGTC 0.562000 41 25 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51773085 51773085 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51773085G>A ENST00000543196.2 - 2 686 c.481C>T c.(481-483)Cga>Tga p.R161* GALNT6_ENST00000356317.3_Nonsense_Mutation_p.R161* Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 161 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCAGGTGGTCGGGTGTCTGGC 0.567000 19 8 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555621 50555621 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50555621G>T ENST00000262794.5 + 9 1378 c.1295G>T c.(1294-1296)tGt>tTt p.C432F MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.C432F|MOV10L1_ENST00000540615.1_Missense_Mutation_p.C412F|MOV10L1_ENST00000545383.1_Missense_Mutation_p.C432F NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 432 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CTTTTGCTCTGTTTTTCCGAT 0.388000 21 79 0.00127121 0.00127363 1 1 0 OR2G2 81470 broad.mit.edu 37 1 247751934 247751934 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247751934C>T ENST00000320065.1 + 1 273 c.273C>T c.(271-273)ccC>ccT p.P91P RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTGGGAACCCATGAAAACTA 0.517000 29 48 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017418 9017418 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9017418G>A ENST00000397910.4 - 26 38109 c.37906C>T c.(37906-37908)Ctg>Ttg p.L12636L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12638 SEA 4. 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 AGCTGGCTCAGCTCCCAGTAT 0.572000 51 104 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56029286 56029286 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:56029286C>T ENST00000244728.5 - 9 1703 c.1306G>A c.(1306-1308)Gat>Aat p.D436N COL21A1_ENST00000370819.1_Missense_Mutation_p.D433N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D436N NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 436 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GAACCTACATCACTGGGACCA 0.403000 9 3 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72175941 72175941 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:72175941G>A ENST00000356056.5 - 28 5864 c.5392C>T c.(5392-5394)Cca>Tca p.P1798S MYO9A_ENST00000424560.1_Missense_Mutation_p.P1869S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1798S|MYO9A_ENST00000444904.1_Missense_Mutation_p.P1779S NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1798 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTACCATCTGGAAACTGATGA 0.423000 28 42 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26918806 26918806 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:26918806G>A ENST00000321765.5 - 4 1679 c.1347C>T c.(1345-1347)tcC>tcT p.S449S NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 449 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GAAGCTGGCGGGAGAGAACCT 0.552000 3 79 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53694281 53694281 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53694281C>T ENST00000288139.3 + 5 863 c.745C>T c.(745-747)Cga>Tga p.R249* CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.R249*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.R249* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 249 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCGACCACTTCGACTAGTGTC 0.488000 11 29 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466781 132466781 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:132466781C>T ENST00000333577.4 + 6 1904 c.1795C>T c.(1795-1797)Cca>Tca p.P599S EP400_ENST00000330386.6_Missense_Mutation_p.P563S|EP400_ENST00000332482.4_Missense_Mutation_p.P526S|EP400_ENST00000389561.2_Missense_Mutation_p.P563S|EP400_ENST00000389562.2_Missense_Mutation_p.P562S Q96L91 EP400_HUMAN E1A binding protein p400 599 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGGCTGCCCCCAGCCGGTGT 0.662000 21 28 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444338 150444338 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:150444338C>T ENST00000401000.4 + 10 2901 c.2836C>T c.(2836-2838)Cgt>Tgt p.R946C RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R972C|RPRD2_ENST00000539519.1_Intron Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 972 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGTCCCACATCGTTCCCTTTT 0.577000 133 212 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53573162 53573162 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:53573162G>A ENST00000025008.5 - 12 2206 c.1683C>T c.(1681-1683)tcC>tcT p.S561S RB1CC1_ENST00000539297.1_Silent_p.S561S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S561S NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 561 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATACACAAAAGGAAGGGGGCC 0.318000 13 51 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000977 142000977 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142000977C>T ENST00000455382.2 + 0 143 AACCTGAAGTCACCCAGACTC 0.418000 5 21 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185232278 185232278 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:185232278C>T ENST00000296252.4 - 8 1155 c.1014G>A c.(1012-1014)tgG>tgA p.W338* LIPH_ENST00000424591.2_Nonsense_Mutation_p.W304* NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 338 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CATTCTTGTTCCATGTTATAA 0.393000 18 51 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170515 77170515 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77170515C>T ENST00000253506.5 + 2 609 c.240C>T c.(238-240)atC>atT p.I80I NFATC1_ENST00000329101.4_Silent_p.I67I|NFATC1_ENST00000427363.2_Silent_p.I80I|NFATC1_ENST00000542384.1_Silent_p.I80I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.I80I|NFATC1_ENST00000592223.1_Silent_p.I67I|NFATC1_ENST00000591814.1_Silent_p.I80I|NFATC1_ENST00000318065.5_Silent_p.I67I|NFATC1_ENST00000586434.1_Silent_p.I67I|NFATC1_ENST00000545796.1_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 80 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGGGCATCATCCCGCCGGCGG 0.711000 56 47 0 0 1 0 0 AVL9 23080 broad.mit.edu 37 7 32598603 32598603 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:32598603G>A ENST00000318709.4 + 10 963 c.742G>A c.(742-744)Gat>Aat p.D248N AVL9_ENST00000409301.1_Missense_Mutation_p.D248N|AVL9_ENST00000404479.1_Missense_Mutation_p.D248N NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 248 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TATGTCTGAAGATGGTGGGCT 0.408000 41 64 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131812737 131812737 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:131812737C>T ENST00000286355.5 - 15 5087 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K ADCY8_ENST00000377928.3_Missense_Mutation_p.E868K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 999 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTATTCATTTCAGTCTGAGAG 0.448000 HNSCC(32;0.087) 103 34 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167021941 167021941 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:167021941C>T ENST00000061240.2 + 21 3602 c.2955C>T c.(2953-2955)ttC>ttT p.F985F TLL1_ENST00000507499.1_Silent_p.F1008F NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 985 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TAATTCATTTCCACACTGATG 0.328000 38 38 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11300494 11300494 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:11300494G>A ENST00000361445.4 - 11 1728 c.1652C>T c.(1651-1653)cCc>cTc p.P551L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 551 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GTGGCGAAGGGGTTTGTGCAT 0.582000 34 41 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964332 123964332 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:123964332G>A ENST00000314393.4 + 3 1417 c.582G>A c.(580-582)gcG>gcA p.A194A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 194 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AACCAAAAGCGGATGCCAAGA 0.572000 34 115 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142148162 142148162 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:142148162C>T ENST00000519811.1 + 3 497 c.427C>T c.(427-429)Cac>Tac p.H143Y DENND3_ENST00000262585.2_Missense_Mutation_p.H63Y|DENND3_ENST00000424248.1_Missense_Mutation_p.H63Y|DENND3_ENST00000518347.1_Missense_Mutation_p.H143Y A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 63 DENN. S -> N (in dbSNP:rs307761). breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGATTGCGTCCACTTCCTGGT 0.582000 18 4 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71497599 71497599 + Missense_Mutation SNP A A G rs121908109 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71497599A>G ENST00000396073.3 + 4 438 c.157A>G c.(157-159)Aaa>Gaa p.K53E NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 53 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATTTAGCAGTAAAAGTGAGGA 0.393000 76 133 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133917055 133917055 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:133917055G>A ENST00000361069.4 + 7 1448 c.1315G>A c.(1315-1317)Gac>Aac p.D439N LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 439 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGGCAGCCTGGACACCTGTGA 0.542000 12 29 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908522 103908522 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:103908522A>G ENST00000302259.3 + 1 1215 c.972A>G c.(970-972)caA>caG p.Q324Q PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 324 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTGAGGATCAACCCATGGATA 0.453000 37 80 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158654964 158654964 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158654964C>T ENST00000368148.3 - 2 378 c.198G>A c.(196-198)ggG>ggA p.G66G SPTA1_ENST00000368147.3_Silent_p.G66G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 66 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGATCCACTtccccagatcat 0.453000 14 24 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850880 13850880 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850880G>A ENST00000265104.4 - 31 5099 c.4995C>T c.(4993-4995)atC>atT p.I1665I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1665 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCGAGTCATGATCTTCACCC 0.463000 Kartagener syndrome 19 59 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532757 31532757 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:31532757G>A ENST00000215885.3 - 6 1480 c.1228C>T c.(1228-1230)Cca>Tca p.P410S NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 410 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 ACCTCGGGTGGGCTGTGGAGC 0.622000 62 77 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282627 69282627 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:69282627G>A ENST00000338352.2 + 1 287 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 85 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GATGAATCTGGAAAACCGGCC 0.567000 7 2 0 0 1 0 0 RAB21 23011 broad.mit.edu 37 12 72175847 72175847 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:72175847C>T ENST00000261263.3 + 5 684 c.428C>T c.(427-429)tCc>tTc p.S143F NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 143 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1) 6 AGACATGTTTCCATTCAAGAA 0.323000 35 51 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120833254 120833254 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:120833254C>T ENST00000527524.2 + 18 2417 c.2130C>T c.(2128-2130)atC>atT p.I710I GRIK4_ENST00000438375.2_Silent_p.I710I Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 710 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGGAGGGAATCGCCAGGGTGT 0.527000 24 40 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84539574 84539574 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:84539574C>G ENST00000286744.5 + 9 1047 c.823C>G c.(823-825)Caa>Gaa p.Q275E ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q275E NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 275 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AAAAACACTTCAAGGAAGCAA 0.333000 8 20 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591399 33591399 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33591399C>A ENST00000299977.4 + 4 1484 c.1336C>A c.(1336-1338)Cag>Aag p.Q446K SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 446 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCTAATTTCCCAGAACAACAC 0.453000 22 46 2.4375e-19 2.4763e-19 1 1 0 DNM3 26052 broad.mit.edu 37 1 171958126 171958126 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:171958126G>A ENST00000358155.4 + 4 603 c.427G>A c.(427-429)Gtg>Atg p.V143M DNM3_ENST00000520906.1_Missense_Mutation_p.V143M|DNM3_ENST00000367733.2_Missense_Mutation_p.V143M|DNM3_ENST00000367731.1_Missense_Mutation_p.V143M|DNM3_ENST00000355305.5_Missense_Mutation_p.V143M NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 143 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AATAACTAAAGTGCCTGTGGG 0.393000 6 9 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39794419 39794419 + Silent SNP C C T rs149803392 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:39794419C>T ENST00000373272.2 + 16 2157 c.1752C>T c.(1750-1752)ctC>ctT p.L584L PLCG1_ENST00000244007.3_Silent_p.L584L|PLCG1_ENST00000373271.1_Silent_p.L584L NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 584 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GCTCCTTCCTCGTGCGAGAGA 0.582000 17 41 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124008183 124008183 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124008183C>T ENST00000369005.1 + 20 8758 c.8418C>T c.(8416-8418)gtC>gtT p.V2806V TACC2_ENST00000358010.1_Silent_p.V952V|TACC2_ENST00000260733.3_Silent_p.V884V|TACC2_ENST00000369001.1_Silent_p.V433V|TACC2_ENST00000515273.1_Silent_p.V2733V|TACC2_ENST00000515603.1_Silent_p.V2684V|TACC2_ENST00000369004.3_Silent_p.V866V|TACC2_ENST00000368999.1_Silent_p.V896V|TACC2_ENST00000513429.1_Silent_p.V952V|TACC2_ENST00000369000.1_Silent_p.V429V|TACC2_ENST00000360561.3_Silent_p.V854V|TACC2_ENST00000334433.3_Silent_p.V2806V|TACC2_ENST00000453444.2_Silent_p.V2733V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2806 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGAAGTCAGTCTCCCACCAGA 0.587000 41 65 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216256831 216256831 + Silent SNP G G A rs147371835 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216256831G>A ENST00000366943.2 - 26 5651 c.5265C>T c.(5263-5265)ttC>ttT p.F1755F RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Silent_p.F1755F|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1755 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTTATAAACGAAAAGAAGCA 0.299000 HNSCC(13;0.011) 36 63 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32039967 32039967 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32039967C>T ENST00000375244.3 - 13 4991 c.4790G>A c.(4789-4791)tGg>tAg p.W1597* TNXB_ENST00000375247.2_Nonsense_Mutation_p.W1597* P22105 TENX_HUMAN tenascin XB 1679 Fibronectin type-III 8. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGGACTGTCCATGAGAGGCC 0.632000 41 14 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656921 8656921 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8656921G>A ENST00000270328.4 - 13 1920 c.1654C>T c.(1654-1656)Ccg>Tcg p.P552S ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552S|ADAMTS10_ENST00000595838.1_Silent_p.G42G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 552 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGAGTCCACGGCCCCCAGGCT 0.682000 13 18 0 0 1 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6990792 6990792 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:6990792G>A ENST00000600751.1 - 0 65 NR_024075.1 GCAGGACCAGGAGGAACCTGC 0.498000 15 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179442623 179442623 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179442623G>A ENST00000589042.1 - 323 68754 c.68530C>T c.(68530-68532)Cct>Tct p.P22844S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13779S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21203S|TTN_ENST00000342992.6_Missense_Mutation_p.P20276S|TTN_ENST00000342175.6_Missense_Mutation_p.P13971S|TTN_ENST00000359218.5_Missense_Mutation_p.P13904S|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21203 Ig-like 117. 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) TTTCCAGGAGGATCTAAAACA 0.348000 10 14 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295532 101295532 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101295532C>T ENST00000538618.1 + 4 467 c.467C>T c.(466-468)tCc>tTc p.S156F ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTCAGGCATTCCTCACTCCCA 0.517000 HNSCC(74;0.22) 35 54 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87145973 87145973 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:87145973G>A ENST00000265724.3 - 25 3353 c.2936C>T c.(2935-2937)tCa>tTa p.S979L ABCB1_ENST00000543898.1_Missense_Mutation_p.S915L|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 979 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GACAACAGCTGAAAATACTCT 0.403000 14 32 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44108098 44108098 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:44108098C>T ENST00000420999.1 - 6 1006 c.923G>A c.(922-924)gGt>gAt p.G308D NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 308 DM10 2. calcium ion binding p.G308D(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TATAAAGTCACCATATGAATT 0.398000 13 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13814899 13814899 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13814899G>A ENST00000265104.4 - 43 7149 c.7045C>T c.(7045-7047)Ctg>Ttg p.L2349L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2349 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L2349L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACAGAATTCAGATTTTCAATC 0.393000 Kartagener syndrome 13 39 0 0 1 0 0 RSU1P2 100133308 broad.mit.edu 37 10 45602072 45602072 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:45602072G>A ENST00000423875.1 - 0 1364 ACCTAGTTCTGGGCGTAGAAC 0.433000 15 23 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150925668 150925668 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:150925668G>A ENST00000261800.5 - 9 5032 c.5020C>T c.(5020-5022)Cct>Tct p.P1674S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1674 Cadherin 15. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACCAACAGGGATTGATTCA 0.453000 22 42 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997498 118997498 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:118997498C>T ENST00000328252.3 + 7 2683 c.2314C>T c.(2314-2316)Cct>Tct p.P772S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 772 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACACGGTTCCTCCAGCCTG 0.562000 25 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9002624 9002624 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9002624G>A ENST00000397910.4 - 51 40395 c.40192C>T c.(40192-40194)Cgt>Tgt p.R13398C MUC16_ENST00000380951.5_Missense_Mutation_p.R39C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13400 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R13398C(1)|p.R83C(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTCAGGACGATGGGTGCAG 0.572000 30 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642656 179642656 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179642656G>A ENST00000589042.1 - 25 4479 c.4255C>T c.(4255-4257)Cct>Tct p.P1419S TTN_ENST00000460472.2_Missense_Mutation_p.P1373S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P1419S|TTN_ENST00000591111.1_Missense_Mutation_p.P1419S|TTN_ENST00000342992.6_Missense_Mutation_p.P1419S|TTN_ENST00000342175.6_Missense_Mutation_p.P1373S|TTN_ENST00000359218.5_Missense_Mutation_p.P1373S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1419 ZIS5. 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) ATCCGTGCAGGAGACATGCGT 0.498000 16 21 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737528 248737528 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248737528C>T ENST00000328782.2 - 1 552 c.531G>A c.(529-531)agG>agA p.R177R NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) TCAGGATTTTCCTAGACTGGC 0.527000 24 36 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32091182 32091182 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:32091182G>A ENST00000438447.1 + 20 8016 c.7628G>A c.(7627-7629)gGa>gAa p.G2543E PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543E O15018 PDZD2_HUMAN PDZ domain containing 2 2543 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 TGTCCAGGAGGAAGTGGCCCT 0.577000 20 28 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080637 146080637 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:146080637G>A ENST00000394413.3 - 2 709 c.139C>T c.(139-141)Cgg>Tgg p.R47W PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R47W|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R105W|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R53W|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R113W|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R47W|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R36W|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R50W|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R36W|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R47W Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 47 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTACAACCCGACCCCCCTTG 0.438000 208 324 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132655 52132655 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52132655C>T ENST00000222107.4 - 3 794 c.656G>A c.(655-657)gGa>gAa p.G219E SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G219E|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G219E|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G219E|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G219E O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 219 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CACCTGAGCTCCTTGGCGTTT 0.632000 30 63 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100443754 100443754 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100443754G>A ENST00000514652.1 + 3 579 c.225G>A c.(223-225)agG>agA p.R75R C4orf17_ENST00000326581.4_Silent_p.R75R|C4orf17_ENST00000503257.1_3'UTR Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 75 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AGAAGAACAGGATACCATTTG 0.483000 21 61 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133961522 133961522 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:133961522G>A ENST00000298622.4 + 13 1954 c.1816G>A c.(1816-1818)Gag>Aag p.E606K JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGACCAAAACGAGCTGCTGGA 0.547000 6 12 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36570342 36570342 + Silent SNP G G A rs144959929 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:36570342G>A ENST00000273183.3 + 10 1275 c.975G>A c.(973-975)ggG>ggA p.G325G STAC_ENST00000457375.2_Silent_p.G264G NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 325 SH3. intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CCTTTCAGGGGAAAATTCAAG 0.338000 3 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089000 9089000 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9089000T>A ENST00000397910.4 - 1 3018 c.2815A>T c.(2815-2817)Ata>Tta p.I939L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 939 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 AGGTGAGATATTTTAGGAAGA 0.483000 27 32 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38816422 38816422 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:38816422T>G ENST00000476049.1 - 3 304 c.263A>C c.(262-264)cAg>cCg p.Q88P KRT222_ENST00000394052.3_Missense_Mutation_p.Q88P Q8N1A0 KT222_HUMAN keratin 222 88 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 CTGGTAATGCTGCTCGCTGGC 0.433000 30 49 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53834367 53834367 + Missense_Mutation SNP G G A rs148898845 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53834367G>A ENST00000288139.3 + 42 5193 c.5075G>A c.(5074-5076)cGa>cAa p.R1692Q CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1657Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R51Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1672Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1672 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAAACAAAACGAGAAGAAGAA 0.468000 21 50 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849579 73849579 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:73849579G>A ENST00000523207.1 + 3 2577 c.1989G>A c.(1987-1989)agG>agA p.R663R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 663 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCTGCCAGGGATGGCACGC 0.552000 50 6 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38690577 38690577 + Silent SNP C C T rs140456976 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:38690577C>T ENST00000261438.5 + 3 734 c.429C>T c.(427-429)ccC>ccT p.P143P KLF3_ENST00000514033.1_Silent_p.P143P NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 143 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GGATCCTGCCCGTCATCCAGC 0.617000 23 31 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4685851 4685851 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:4685851C>T ENST00000354582.6 + 8 907 c.557C>T c.(556-558)cCc>cTc p.P186L ITPR1_ENST00000443694.2_Missense_Mutation_p.P186L|ITPR1_ENST00000544951.1_Missense_Mutation_p.P186L|ITPR1_ENST00000357086.4_Missense_Mutation_p.P186L|ITPR1_ENST00000302640.8_Missense_Mutation_p.P186L|ITPR1_ENST00000423119.2_Missense_Mutation_p.P186L|ITPR1_ENST00000456211.2_Missense_Mutation_p.P186L Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 186 MIR 2. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GTTCTGAACCCCGTCAATGCT 0.502000 3 10 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120270644 120270644 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120270644G>A ENST00000392521.2 - 7 739 c.684C>T c.(682-684)ctC>ctT p.L228L CIT_ENST00000261833.7_Silent_p.L228L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 228 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGCGGTCAACGAGAATGTTCT 0.418000 54 69 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75704305 75704305 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75704305G>A ENST00000370855.5 - 10 662 c.549C>T c.(547-549)ttC>ttT p.F183F SLC44A5_ENST00000370859.3_Silent_p.F183F|SLC44A5_ENST00000535611.1_Silent_p.F53F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 183 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGAAGTCAGGGAAACATCTCT 0.333000 13 37 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631980 32631980 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:32631980G>A ENST00000242310.4 - 1 3687 c.3598C>T c.(3598-3600)Cgc>Tgc p.R1200C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1200 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTCTCACAGCGAACATACTCT 0.428000 50 77 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174851 106174851 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106174851C>T ENST00000390547.2 - 0 151 TGGGAAGTTTCTGGCGGTCAC 0.652000 18 30 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984695 85984695 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85984695G>A ENST00000372113.4 - 2 291 c.286C>T c.(286-288)Cta>Tta p.L96L LRIT2_ENST00000538192.1_Silent_p.L96L NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 96 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGGGCTCCTAGGTGGATCACA 0.507000 45 64 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526224 189526224 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:189526224C>T ENST00000264731.3 + 4 577 c.488C>T c.(487-489)cCc>cTc p.P163L TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.P163L|TP63_ENST00000392460.3_Missense_Mutation_p.P163L|TP63_ENST00000456148.1_Missense_Mutation_p.P69L|TP63_ENST00000392463.2_Missense_Mutation_p.P69L|TP63_ENST00000437221.1_Missense_Mutation_p.P69L|TP63_ENST00000392461.3_Missense_Mutation_p.P69L|TP63_ENST00000440651.2_Missense_Mutation_p.P163L|TP63_ENST00000354600.5_Missense_Mutation_p.P69L|TP63_ENST00000418709.2_Missense_Mutation_p.P163L|TP63_ENST00000449992.1_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 163 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCTCCATCACCCGCCATCCCC 0.632000 HNSCC(45;0.13) 24 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 76 46 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158233857 158233857 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:158233857G>A ENST00000296526.7 + 4 821 c.496G>A c.(496-498)Gat>Aat p.D166N GRIA2_ENST00000393815.2_Missense_Mutation_p.D119N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D119N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D166N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D119N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 166 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGCTGTGCTGGATTCTGCTGC 0.383000 16 32 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902874 16902874 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:16902874G>A ENST00000430580.2 - 19 2894 c.2007C>T c.(2005-2007)ctC>ctT p.L669L NBPF1_ENST00000432949.1_Silent_p.L127L|NBPF1_ENST00000287968.8_Silent_p.L34L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 669 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGAGGGCCTGGAGATGCTGAT 0.547000 35 607 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93180777 93180777 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:93180777A>G ENST00000393218.2 - 7 761 c.424T>C c.(424-426)Ttc>Ctc p.F142L LGMN_ENST00000334869.4_Missense_Mutation_p.F142L|LGMN_ENST00000557434.1_Missense_Mutation_p.F142L|LGMN_ENST00000555699.1_Missense_Mutation_p.F142L NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 142 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) AAGTAAATGAACACGTGATCC 0.398000 OREG0022880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 29 0 0 1 0 0 TOMM22 56993 broad.mit.edu 37 22 39078419 39078419 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:39078419C>T ENST00000216034.4 + 2 240 c.209C>T c.(208-210)tCc>tTc p.S70F NM_020243.4 NP_064628.1 Q9NS69 TOM22_HUMAN translocase of outer mitochondrial membrane 22 homolog (yeast) 70 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity|receptor activity large_intestine(1)|lung(2) 3 Melanoma(58;0.04) TTTGATCTTTCCCTCTTTGTG 0.567000 30 100 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675745 22675745 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22675745C>T ENST00000390461.2 + 0 69 GAACAGGGGTCAGTAGCCAAG 0.438000 5 5 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166098 193166098 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193166098C>T ENST00000342695.4 - 18 2371 c.2049G>A c.(2047-2049)ctG>ctA p.L683L ATP13A4_ENST00000392443.3_Silent_p.L664L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 683 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCAGAAATATCAGGTCTGATT 0.408000 27 42 0 0 1 0 0 BEX5 340542 broad.mit.edu 37 X 101408958 101408958 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:101408958G>A ENST00000543160.1 - 3 581 c.280C>T c.(280-282)Ctt>Ttt p.L94F BEX5_ENST00000333643.3_Missense_Mutation_p.L94F NM_001159560.1 NP_001153032.1 Q5H9J7 BEX5_HUMAN brain expressed, X-linked 5 94 cytoplasm large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 TCCCCTATAAGAATGCGCAGA 0.423000 32 17 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815108 106815108 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106815108C>T ENST00000407775.2 + 8 3048 c.2798C>T c.(2797-2799)tCa>tTa p.S933L RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S801L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S664L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S801L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 933 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AACTTATTTTCATCCCACCTA 0.423000 16 7 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112991476 112991476 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:112991476C>T ENST00000495514.1 + 7 1591 c.887C>T c.(886-888)aCc>aTc p.T296I BOC_ENST00000273395.4_Missense_Mutation_p.T296I|BOC_ENST00000355385.3_Missense_Mutation_p.T296I Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 296 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GACTCAGGCACCTACCGCTGC 0.607000 29 30 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433306 140433306 + Missense_Mutation SNP C C T rs143394864 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140433306C>T ENST00000306549.3 + 1 2328 c.2251C>T c.(2251-2253)Cgg>Tgg p.R751W NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 751 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) ATCCTTATCTCGGCCTTGTCC 0.408000 23 40 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76676406 76676406 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76676406G>A ENST00000589297.1 - 13 1499 c.807C>T c.(805-807)atC>atT p.I269I CYTH1_ENST00000585509.1_Silent_p.I269I|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Silent_p.I328I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.I328I|CYTH1_ENST00000591455.1_Silent_p.I327I Q15438 CYH1_HUMAN cytohesin 1 328 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 TATTGTCGGGGATATAAAGCT 0.498000 15 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569389 179569389 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179569389C>T ENST00000589042.1 - 105 30034 c.29810G>A c.(29809-29811)gGa>gAa p.G9937E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9620E|TTN_ENST00000342992.6_Missense_Mutation_p.G8693E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9620 Pro-rich. 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) TTTTTCAGTTCCTTTGTACCA 0.343000 3 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9043442 9043442 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9043442C>T ENST00000397910.4 - 6 36290 c.36087G>A c.(36085-36087)tgG>tgA p.W12029* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12031 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 TGGTGGAGATCCAGGACCGAT 0.522000 4 5 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209163498 209163498 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:209163498C>T ENST00000264380.4 + 8 1203 c.1045C>T c.(1045-1047)Ctt>Ttt p.L349F PIKFYVE_ENST00000392202.3_Missense_Mutation_p.L252F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.L263F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.L349F NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 349 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ACGCAAAATTCTTCTGGTACT 0.423000 16 30 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118074365 118074365 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:118074365G>A ENST00000292067.7 - 5 961 c.520C>T c.(520-522)Cgt>Tgt p.R174C AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 184 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R174G(1)|p.R174C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTAGTAACGAAATACAATC 0.502000 21 52 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58946343 58946343 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58946343G>A ENST00000254166.3 - 3 868 c.468C>T c.(466-468)aaC>aaT p.N156N NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 156 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCTGGTGAAGGTTTGCATTCA 0.498000 21 51 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7011475 7011475 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:7011475T>A ENST00000389658.3 - 25 3604 c.3511A>T c.(3511-3513)Acg>Tcg p.T1171S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1171 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCCCAGCGTTACCTAAACC 0.502000 3 3 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934819 113934819 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:113934819G>A ENST00000335953.4 + 2 1177 c.797G>A c.(796-798)gGa>gAa p.G266E ZBTB16_ENST00000392996.2_Missense_Mutation_p.G266E NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 266 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AGCATCTCAGGAGGGATGGGG 0.637000 7 17 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38141900 38141900 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38141900G>A ENST00000308059.6 + 19 2869 c.2848G>A c.(2848-2850)Gaa>Aaa p.E950K DLEC1_ENST00000452631.2_Missense_Mutation_p.E950K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E950K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 950 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCTGGAGGTGGAAAATGGTGC 0.502000 24 56 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785830 140785830 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:140785830G>A ENST00000370515.3 - 2 419 c.86C>T c.(85-87)tCg>tTg p.S29L NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) GTACCCACTCGAGGTCTCCGG 0.478000 31 77 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234637795 234637795 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234637795C>T ENST00000482026.1 + 1 42 c.23C>T c.(22-24)cCc>cTc p.P8L UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTCCAGGTTCCCCTGCCGTGG 0.577000 OREG0003835 type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 49 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130893 45130893 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:45130893G>A ENST00000457685.2 - 6 2294 c.971C>T c.(970-972)tCg>tTg p.S324L ZNF334_ENST00000593880.1_Missense_Mutation_p.S385L|ZNF334_ENST00000347606.4_Missense_Mutation_p.S362L Q9HCZ1 ZN334_HUMAN zinc finger protein 334 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AACAAGATACGATTTCTTGCT 0.453000 61 110 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718657 117718657 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:117718657A>G ENST00000317775.6 - 8 2082 c.1397T>C c.(1396-1398)aTa>aCa p.I466T NOS1_ENST00000338101.4_Missense_Mutation_p.I466T|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 466 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTGGGGGAATATGGTGATGGC 0.622000 14 40 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95927690 95927690 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:95927690G>A ENST00000258499.3 - 2 631 c.343C>T c.(343-345)Cgt>Tgt p.R115C USP44_ENST00000537435.2_Missense_Mutation_p.R115C|USP44_ENST00000393091.2_Missense_Mutation_p.R115C|USP44_ENST00000552440.1_Missense_Mutation_p.R115C NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 115 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTCCCACTACGAGTTGTGCAG 0.398000 19 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437307 179437307 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179437307C>T ENST00000589042.1 - 326 73776 c.73552G>A c.(73552-73554)Gat>Aat p.D24518N TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15453N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22877N|TTN_ENST00000342992.6_Missense_Mutation_p.D21950N|TTN_ENST00000342175.6_Missense_Mutation_p.D15645N|TTN_ENST00000359218.5_Missense_Mutation_p.D15578N|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22877 Fibronectin type-III 78. 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) CCTGGTGTATCGAGAACTCTA 0.418000 23 32 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57925811 57925811 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:57925811G>A ENST00000574161.1 + 8 924 c.804_splice c.e8-1 p.E269_splice POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 269 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TCTTTTGCAGGAAGAAACCAA 0.463000 19 48 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93073020 93073020 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:93073020T>C ENST00000359558.2 - 11 1099 c.800A>G c.(799-801)aAc>aGc p.N267S CALCR_ENST00000426151.1_Missense_Mutation_p.N233S|CALCR_ENST00000421592.1_Missense_Mutation_p.N249S|CALCR_ENST00000394441.1_Missense_Mutation_p.N233S|CALCR_ENST00000360249.4_Missense_Mutation_p.N249S NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 249 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CCAGAAATAGTTGCAGGCCAT 0.443000 35 49 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926718 157926718 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157926718G>A ENST00000389413.3 - 9 1310 c.1207C>T c.(1207-1209)Ctg>Ttg p.L403L PTPRN2_ENST00000389418.4_Silent_p.L403L|PTPRN2_ENST00000389416.4_Silent_p.L386L|PTPRN2_ENST00000409483.1_Silent_p.L365L|PTPRN2_ENST00000404321.2_Silent_p.L426L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 403 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGGTCCTGCAGGAGGCCCCCG 0.587000 48 33 0 0 1 0 0 TM4SF4 7104 broad.mit.edu 37 3 149216612 149216612 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:149216612A>G ENST00000305354.4 + 4 1409 c.505A>G c.(505-507)Atc>Gtc p.I169V NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 169 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CGTAGGAGGAATCCAGATGGT 0.552000 21 47 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113637798 113637798 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:113637798T>A ENST00000374431.3 - 5 1381 c.998A>T c.(997-999)aAc>aTc p.N333I LPAR1_ENST00000358883.4_Missense_Mutation_p.N333I|LPAR1_ENST00000541779.1_Missense_Mutation_p.N334I|LPAR1_ENST00000538760.1_Missense_Mutation_p.N334I|LPAR1_ENST00000374430.2_Missense_Mutation_p.N333I NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 333 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GCCGGTGGGGTTCTCACTGCG 0.552000 16 58 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316128 125316128 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125316128C>T ENST00000373688.2 + 1 738 c.680C>T c.(679-681)cCc>cTc p.P227L NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTCACTGTTCCCCTCCTGCTG 0.502000 50 117 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72046288 72046288 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:72046288C>T ENST00000265381.4 - 13 2691 c.2469G>A c.(2467-2469)gcG>gcA p.A823A NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 823 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GCCTGTACATCGCGGCTGGCA 0.602000 29 70 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115812134 115812134 + Missense_Mutation SNP G G A rs142182003 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:115812134G>A ENST00000374227.3 - 2 178 c.151C>T c.(151-153)Cct>Tct p.P51S ZFP37_ENST00000553380.1_Missense_Mutation_p.P66S|ZFP37_ENST00000555206.1_Missense_Mutation_p.P52S Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 51 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCTGAGCAGGATCCAGTTGC 0.413000 27 46 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235009 100235009 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100235009G>A ENST00000305046.8 - 6 864 c.797C>T c.(796-798)tCg>tTg p.S266L ADH1B_ENST00000394887.3_Missense_Mutation_p.S226L P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 266 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.S266L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 61 118 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669617 234669617 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234669617C>T ENST00000360418.3 + 1 684 c.684C>T c.(682-684)tcC>tcT p.S228S UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000305208.5_Silent_p.S228S|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron P22309 UD11_HUMAN 228 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGGTTTATTCCCCGTATGCAA 0.493000 42 98 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111431705 111431705 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:111431705T>A ENST00000535254.1 - 2 190 c.123A>T c.(121-123)aaA>aaT p.K41N BUB1_ENST00000409311.1_Missense_Mutation_p.K61N|BUB1_ENST00000302759.6_Missense_Mutation_p.K61N NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 61 BUB1 N-terminal.|Necessary for kinetochore localization. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CATTGTGGTATTTCTTCTTAT 0.264000 11 19 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934958 28934958 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28934958G>A ENST00000257192.4 + 15 3011 c.2799G>A c.(2797-2799)atG>atA p.M933I RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M292I|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 933 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTTCCGGCATGATAGGTAGTC 0.478000 184 137 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31644754 31644754 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:31644754C>T ENST00000333611.4 + 1 367 c.53_splice c.e1+1 p.R18_splice LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000340552.4_Splice_Site_p.R18_splice|LIMK2_ENST00000331728.4_Intron NM_016733.2 NP_057952.1 P53671 LIMK2_HUMAN LIM domain kinase 2 39 LIM zinc-binding 1. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGACCTGTTTCGGTGAGTTGG 0.542000 57 147 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7714948 7714948 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:7714948G>A ENST00000340209.4 + 10 1220 c.923G>A c.(922-924)gGa>gAa p.G308E RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G303E|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G260E|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G346E|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G346E|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G276E|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G303E|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G320E Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 303 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 TACCAGGATGGATTTTATGGT 0.443000 66 136 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 799338 799338 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:799338G>T ENST00000347755.5 - 16 2843 c.2702C>A c.(2701-2703)gCt>gAt p.A901D PIDD_ENST00000411829.2_Missense_Mutation_p.A884D NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 901 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGGCTGTGGAGCCGAGGAGCC 0.667000 3 25 1 1 1 1 0 ENPP4 22875 broad.mit.edu 37 6 46107842 46107842 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46107842G>A ENST00000321037.4 + 2 752 c.522G>A c.(520-522)tcG>tcA p.S174S NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 174 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TAAACAATTCGAACCCACCAG 0.388000 31 133 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17475250 17475250 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:17475250G>A ENST00000377873.3 - 8 1506 c.1467C>T c.(1465-1467)atC>atT p.I489I BFSP1_ENST00000377868.2_Silent_p.I364I|BFSP1_ENST00000544874.1_Silent_p.I350I|BFSP1_ENST00000536626.1_Silent_p.I350I NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 489 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CTTTAGCTGTGATGGAGGAGA 0.557000 16 30 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11384921 11384921 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:11384921G>A ENST00000304623.8 - 7 1222 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P345S|CTNND2_ENST00000511377.1_Missense_Mutation_p.P254S|CTNND2_ENST00000458100.2_Intron NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 345 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGTGGATGGGCGAGGAGGAG 0.677000 6 12 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167823649 167823649 + Silent SNP G G A rs143102400 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:167823649G>A ENST00000367848.1 - 18 2471 c.1974C>T c.(1972-1974)ctC>ctT p.L658L ADCY10_ENST00000367851.4_Silent_p.L750L|ADCY10_ENST00000545172.1_Silent_p.L597L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 750 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTTGGAAAACGAGTACCTCAT 0.443000 36 59 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694037 84694037 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:84694037G>A ENST00000286744.5 + 27 4729 c.4505G>A c.(4504-4506)gGa>gAa p.G1502E ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1502E NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1502 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGCGGTGAAGGATACCACAGT 0.517000 22 36 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227464 75227464 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:75227464G>A ENST00000342232.4 - 2 811 c.771C>T c.(769-771)atC>atT p.I257I NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 257 Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGCCAAAGCTGATCGTGGAGT 0.562000 63 14 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906435 164906435 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:164906435G>A ENST00000475390.1 - 2 2627 c.2184C>T c.(2182-2184)tcC>tcT p.S728S SLITRK3_ENST00000241274.3_Silent_p.S728S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 728 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCTCTGGAGAGGAAAGAGTTG 0.572000 HNSCC(40;0.11) 14 26 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103124 168103124 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168103124G>A ENST00000409195.1 + 9 5311 c.5222G>A c.(5221-5223)gGa>gAa p.G1741E XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1519E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1741E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1566 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTGAGAGAGGAAATGTTCAG 0.368000 16 28 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21200013 21200013 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:21200013C>T ENST00000381541.3 + 8 1062 c.997C>T c.(997-999)Ctt>Ttt p.L333F LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.L333F|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.L286F GAAAAGCATCCTTACCAATCC 0.274000 4 24 0 0 1 0 0 GALE 2582 broad.mit.edu 37 1 24122730 24122730 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24122730C>T ENST00000374497.3 - 11 990 c.899G>A c.(898-900)cGg>cAg p.R300Q NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 300 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ATCACCTTCCCGCCGTGCCAC 0.622000 21 43 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31299667 31299667 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:31299667G>A ENST00000265071.2 + 5 1005 c.740G>A c.(739-741)gGa>gAa p.G247E CDH6_ENST00000514738.1_Missense_Mutation_p.G192E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 247 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGATGGGAGGATTATCTGGG 0.478000 34 68 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038120 62038120 + Silent SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62038120G>C ENST00000354587.3 - 17 2696 c.2520C>G c.(2518-2520)ccC>ccG p.P840P KCNQ2_ENST00000344462.3_Silent_p.P828P|KCNQ2_ENST00000360480.3_Silent_p.P804P|KCNQ2_ENST00000370224.1_Silent_p.P840P|KCNQ2_ENST00000430658.1_Silent_p.P801P|KCNQ2_ENST00000359689.1_Silent_p.P832P|KCNQ2_ENST00000357249.2_Silent_p.P814P|KCNQ2_ENST00000370226.1_Silent_p.P802P|KCNQ2_ENST00000359125.2_Silent_p.P832P O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 832 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCGCAATGTAGGGCCTGACTT 0.652000 8 20 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36277934 36277934 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36277934G>A ENST00000007510.4 + 20 2706 c.2562G>A c.(2560-2562)caG>caA p.Q854Q ARHGAP33_ENST00000378944.5_Silent_p.Q718Q|ARHGAP33_ENST00000314737.5_Silent_p.Q693Q O14559 RHG33_HUMAN Rho GTPase activating protein 33 854 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCTGCCAGCAGGAGATGTGCA 0.701000 4 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850786 13850786 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850786C>T ENST00000265104.4 - 31 5193 c.5089G>A c.(5089-5091)Gaa>Aaa p.E1697K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1697 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGGCATATTTCCAACTGGTCC 0.493000 Kartagener syndrome 11 27 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866196 139866196 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:139866196C>T ENST00000370532.2 - 1 527 c.336G>A c.(334-336)ttG>ttA p.L112L NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 112 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CTATAGCTTCCAAAAAATCCG 0.448000 29 12 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22033807 22033807 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:22033807C>T ENST00000306385.5 + 3 1084 c.414C>T c.(412-414)gtC>gtT p.V138V BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397816.3_Silent_p.V138V|BMP1_ENST00000354870.5_Silent_p.V138V|BMP1_ENST00000397814.3_Silent_p.V138V|BMP1_ENST00000306349.8_Silent_p.V138V NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 138 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TCCCCTTTGTCATTGGGGGAA 0.647000 13 11 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049535 11049535 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:11049535G>A ENST00000470054.1 - 0 573 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACATTCCATGATAGTGCTGA 0.453000 6 67 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003913 34003913 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34003913G>A ENST00000374181.3 - 8 2143 c.1974C>T c.(1972-1974)ttC>ttT p.F658F GRM4_ENST00000535756.1_Silent_p.F525F|GRM4_ENST00000455714.2_Silent_p.F518F|GRM4_ENST00000544773.1_Silent_p.F489F|GRM4_ENST00000545715.1_Silent_p.F350F|GRM4_ENST00000374177.3_Silent_p.F542F|GRM4_ENST00000538487.1_Silent_p.F658F NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 658 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTAGTCCCAGGAAGATTCGGC 0.607000 17 93 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714867 91714867 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:91714867C>T ENST00000359028.2 + 36 9128 c.8903C>T c.(8902-8904)cCc>cTc p.P2968L AKAP9_ENST00000358100.2_Missense_Mutation_p.P2914L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P2964L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2968 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTGAGTCTCCCTATAGTGAT 0.418000 T BRAF papillary thyroid 14 34 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604820 90604820 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:90604820C>T ENST00000369352.1 + 1 633 c.633C>T c.(631-633)ttC>ttT p.F211F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 211 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AGACAATTTTCATGCTTTTTA 0.403000 61 53 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138421024 138421024 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:138421024G>A ENST00000409968.1 + 26 4708 c.4530G>A c.(4528-4530)atG>atA p.M1510I THSD7B_ENST00000413152.2_Missense_Mutation_p.M1482I|THSD7B_ENST00000272643.3_Missense_Mutation_p.M1513I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTACTGCATGAAAGTACCAG 0.358000 3 7 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675459 22675459 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22675459G>A ENST00000390461.2 + 0 42 TACTCCTAGGGATATTGGGGT 0.453000 28 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179574513 179574513 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179574513G>A ENST00000589042.1 - 99 28757 c.28533C>T c.(28531-28533)ttC>ttT p.F9511F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.F9194F|TTN_ENST00000342992.6_Silent_p.F8267F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9194 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) CCTCAAGTTTGAAAGAATTCC 0.383000 30 49 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30601792 30601792 + RNA SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:30601792T>A ENST00000519246.1 + 0 102 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 ATCCCGGATATAGGTAAGTGT 0.557000 9 6 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498906 216498906 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216498906C>T ENST00000366943.2 - 6 1270 c.884G>A c.(883-885)aGa>aAa p.R295K USH2A_ENST00000366942.3_Missense_Mutation_p.R295K|USH2A_ENST00000307340.3_Missense_Mutation_p.R295K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 295 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGCATGCAATCTGAGAAGATC 0.512000 HNSCC(13;0.011) 18 27 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946973 144946973 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144946973C>T ENST00000525985.1 - 2 520 c.449G>A c.(448-450)tGg>tAg p.W150* P58107 EPIPL_HUMAN epiplakin 1 150 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) GACCTCCAGCCAGCTCTGCCC 0.697000 25 5 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54528095 54528095 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:54528095G>A ENST00000373968.3 - 4 613 c.549C>T c.(547-549)ttC>ttT p.F183F MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 183 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TGATGCCCAGGAAGGCTTCCT 0.512000 70 137 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467054 21467054 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21467054C>T ENST00000281523.2 - 6 1300 c.782G>A c.(781-783)gGc>gAc p.G261D NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 261 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATTTTGGAGGCCTGTGTTTCC 0.428000 30 48 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55715062 55715062 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55715062C>T ENST00000379668.2 + 1 717 c.679C>T c.(679-681)Cct>Tct p.P227S NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TTTGAGAATTCCTTCTACTAG 0.378000 16 40 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249705 68249705 + Silent SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:68249705T>A ENST00000347230.4 - 21 4302 c.4164A>T c.(4162-4164)gcA>gcT p.A1388A ZFYVE26_ENST00000555452.1_Silent_p.A1388A NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1388 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGAGATTCACTGCCAGACTCT 0.562000 17 36 0 0 1 0 0 C16orf54 283897 broad.mit.edu 37 16 29755631 29755631 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:29755631C>T ENST00000329410.3 - 2 737 c.642G>A c.(640-642)tgG>tgA p.W214* NM_175900.3 NP_787096.2 Q6UWD8 CP054_HUMAN chromosome 16 open reading frame 54 214 integral to membrane breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1) 6 CTTCACGCTTCCAGAAAGCTG 0.667000 7 13 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866396 39866396 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:39866396C>T ENST00000314471.6 + 7 1809 c.774C>T c.(772-774)gcC>gcT p.A258A SAMD4B_ENST00000598913.1_Silent_p.A258A|SAMD4B_ENST00000596368.1_Silent_p.A258A NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 258 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCTTGGGGCCCGGGCTGCTT 0.652000 45 71 0 0 1 0 0 SAA1 6288 broad.mit.edu 37 11 18288502 18288502 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:18288502C>T ENST00000405158.2 + 2 252 c.68C>T c.(67-69)tCg>tTg p.S23L SAA1_ENST00000532858.1_Missense_Mutation_p.S23L|SAA1_ENST00000356524.4_Missense_Mutation_p.S23L NM_000331.4 NP_000322.2 P02735 SAA_HUMAN serum amyloid A1 23 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCTTCTTTTCGTTCCTTGGC 0.498000 15 26 0 0 1 0 0 MTCP1 4515 broad.mit.edu 37 X 154293955 154293955 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:154293955T>G ENST00000369476.3 - 3 794 c.215A>C c.(214-216)tAc>tCc p.Y72S MTCP1_ENST00000362018.2_Missense_Mutation_p.Y72S|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR NM_001018025.3 NP_001018025.1 P56278 MTCP1_HUMAN mature T-cell proliferation 1 72 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCCTCCGGGTAGAGTTGCCA 0.483000 T TRA@ T cell prolymphocytic leukemia 46 16 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110459717 110459717 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:110459717C>T ENST00000519681.1 + 18 1981 c.1539C>T c.(1537-1539)ttC>ttT p.F513F PAK3_ENST00000446737.1_Silent_p.F492F|PAK3_ENST00000425146.1_Silent_p.F492F|PAK3_ENST00000372010.1_Silent_p.F507F|PAK3_ENST00000262836.4_Silent_p.F507F|PAK3_ENST00000417227.1_Silent_p.F513F|PAK3_ENST00000360648.4_Silent_p.F528F|PAK3_ENST00000372007.4_Silent_p.F492F|PAK3_ENST00000518291.1_Silent_p.F528F O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 507 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CAGCTGTATTCCGTGACTTTT 0.408000 TSP Lung(19;0.15) 36 12 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564386 36564386 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36564386C>T ENST00000397799.1 - 4 1120 c.896G>A c.(895-897)gGg>gAg p.G299E COL8A2_ENST00000481785.1_Missense_Mutation_p.G234E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G299E P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 299 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCTGGCTCCCCTTTGGCCCC 0.701000 3 13 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159890279 159890279 + Silent SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:159890279T>A ENST00000368097.4 - 2 331 c.21A>T c.(19-21)gcA>gcT p.A7A TAGLN2_ENST00000368096.1_Silent_p.A28A|TAGLN2_ENST00000320307.4_Silent_p.A7A|TAGLN2_ENST00000478033.1_5'UTR NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 7 muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAGGCCATATGCAGGTCCCC 0.587000 15 26 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6381376 6381376 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:6381376G>A ENST00000262483.8 - 8 906 c.819C>T c.(817-819)ttC>ttT p.F273F ACKR6_ENST00000421306.3_Silent_p.F237F NM_031220.3 NP_112497.2 AGATGGCATCGAAGGCCAGGA 0.672000 18 56 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001057 122001057 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:122001057C>T ENST00000498619.1 + 6 2174 c.1736C>T c.(1735-1737)cCt>cTt p.P579L CASR_ENST00000296154.5_Missense_Mutation_p.P569L|CASR_ENST00000490131.1_Missense_Mutation_p.P569L NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 569 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTGGAGTGTCCTGATGGGGAG 0.597000 46 96 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39095333 39095333 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:39095333C>A ENST00000295373.6 - 2 341 c.215G>T c.(214-216)cGc>cTc p.R72L NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 72 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CCTGGAAGGGCGCCTTGATTC 0.458000 21 41 3.08376e-08 3.10737e-08 1 1 0 OR52L1 338751 broad.mit.edu 37 11 6007810 6007810 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:6007810G>A ENST00000332249.4 - 1 405 c.351C>T c.(349-351)atC>atT p.I117I NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAACATCTGGATCAGGCAGA 0.542000 5 15 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159533480 159533480 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:159533480C>T ENST00000307765.5 + 8 897 c.646C>T c.(646-648)Cca>Tca p.P216S RXFP1_ENST00000343542.5_Missense_Mutation_p.P216S|RXFP1_ENST00000460056.2_Missense_Mutation_p.P135S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P183S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P135S NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 216 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AATTTCCCCACCAACATTTTA 0.284000 12 23 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20521064 20521064 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:20521064C>T ENST00000504154.1 + 12 1370 c.1118C>T c.(1117-1119)tCc>tTc p.S373F SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 373 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 GGACTGTTTTCCTTACAGCTC 0.313000 9 32 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 54218927 54218927 + Missense_Mutation SNP A A C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:54218927A>C ENST00000401642.3 - 2 978 c.845T>G c.(844-846)gTt>gGt p.V282G SCFD2_ENST00000388940.4_Missense_Mutation_p.V282G NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 282 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATGATGTCCAACTGCTCCTGT 0.393000 23 21 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601683 41601683 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41601683G>A ENST00000330436.3 + 9 1322 c.1322G>A c.(1321-1323)gGa>gAa p.G441E NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 441 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TACTGTTTTGGAGAAGGCCTG 0.562000 27 53 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795682 17795682 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:17795682G>A ENST00000380607.4 + 9 1120 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S SH3GL2_ENST00000537391.1_Missense_Mutation_p.G287S NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 334 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding p.G334C(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GATGCTGCATGGCCATTCAGG 0.478000 11 29 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911876 158911876 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158911876C>T ENST00000368140.1 + 5 934 c.689C>T c.(688-690)tCc>tTc p.S230F PYHIN1_ENST00000392254.2_Missense_Mutation_p.S230F|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S221F NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 230 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAATATGAATCCTCAGAAAAT 0.383000 19 34 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590534 156590534 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:156590534C>T ENST00000302938.4 - 2 837 c.742G>A c.(742-744)Gct>Act p.A248T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 248 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGAAGCCGCACTAGCC 0.582000 29 42 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930898 133930898 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:133930898G>A ENST00000298622.4 + 2 591 c.453G>A c.(451-453)aaG>aaA p.K151K NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGTGGAGAAGGTCAAGATGC 0.622000 21 41 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33988985 33988985 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33988985G>A ENST00000373381.4 - 67 10607 c.10431C>T c.(10429-10431)ctC>ctT p.L3477L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3333 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTACACCTGGAGTAGGAGAT 0.388000 4 7 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175292569 175292569 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:175292569G>A ENST00000367674.1 - 23 4709 c.4001C>T c.(4000-4002)cCc>cTc p.P1334L RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.P1334L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1334 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TTCCACAAAGGGGATGGAGAA 0.552000 35 58 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37005760 37005760 + Silent SNP C C T rs57678022 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37005760C>T ENST00000523638.1 - 3 1502 c.381G>A c.(379-381)caG>caA p.Q127Q ZNF260_ENST00000588993.1_Silent_p.Q127Q|ZNF260_ENST00000593142.1_Silent_p.Q127Q|ZNF260_ENST00000592282.1_Silent_p.Q127Q NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 127 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TATGATTTTTCTGGTGTCTGA 0.393000 38 93 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792528 143792528 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143792528G>A ENST00000408949.2 + 1 388 c.328G>A c.(328-330)Gag>Aag p.E110K NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGCTATTACAGAGTGTCTGAT 0.423000 30 133 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955423 12955423 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:12955423C>T ENST00000235347.4 - 2 335 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 86 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGTGTATCAAGTCCCCTC 0.607000 22 32 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062446 194062446 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:194062446G>A ENST00000323830.3 - 2 1075 c.986C>T c.(985-987)cCa>cTa p.P329L CPN2_ENST00000429275.1_Missense_Mutation_p.P329L NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 329 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GATGCCAGCTGGGAGGTGGGT 0.572000 18 31 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36123192 36123192 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:36123192C>T ENST00000249044.2 + 3 1077 c.1077C>T c.(1075-1077)tcC>tcT p.S359S NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 359 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGACCTGTTCCAGCTCCCGGG 0.587000 42 42 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720046 13720046 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:13720046G>A ENST00000279593.3 - 12 2720 c.2511C>T c.(2509-2511)atC>atT p.I837I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 837 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGTTCGCAGATGAAGGTGA 0.507000 27 41 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967087 106967087 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967087T>C ENST00000369066.3 + 2 1267 c.780T>C c.(778-780)ttT>ttC p.F260F NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 260 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ACAATCCATTTAGCCAGCCAG 0.443000 18 13 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121712934 121712934 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:121712934G>A ENST00000452319.1 + 5 631 c.571G>A c.(571-573)Ggg>Agg p.G191R GLI2_ENST00000361492.4_Missense_Mutation_p.G191R|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 191 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGCGCCCTACGGGGACCTGCT 0.667000 11 18 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3785639 3785639 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3785639G>A ENST00000381771.2 - 8 858 c.711C>T c.(709-711)atC>atT p.I237I CAMKK1_ENST00000158166.5_Silent_p.I237I|CAMKK1_ENST00000348335.2_Intron|CAMKK1_ENST00000381769.2_Intron Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 228 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) AATCTAACTGGATATTCTGGG 0.557000 35 64 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962063 73962063 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73962063G>A ENST00000373468.1 - 3 2980 c.2329C>T c.(2329-2331)Cat>Tat p.H777Y KIAA2022_ENST00000055682.5_Missense_Mutation_p.H777Y Q5QGS0 K2022_HUMAN KIAA2022 777 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTGCCTCATGAAATTCAGAT 0.388000 34 19 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449932 138449932 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:138449932G>A ENST00000344876.4 - 2 2916 c.2530C>T c.(2530-2532)Cag>Tag p.Q844* PCDH18_ENST00000510305.1_Nonsense_Mutation_p.Q55*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.Q843*|PCDH18_ENST00000511115.1_Nonsense_Mutation_p.Q24*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.Q623* NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 844 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGTCTTGGCTGATATTGCCCC 0.408000 48 63 0 0 1 0 0 EVX1 2128 broad.mit.edu 37 7 27283001 27283001 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:27283001G>A ENST00000496902.4 + 1 838 c.352G>A c.(352-354)Gat>Aat p.D118N EVX1_ENST00000222761.3_Missense_Mutation_p.D118N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_5'UTR P49640 EVX1_HUMAN even-skipped homeobox 1 118 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 CACCGAGTCGGATTTCTATGA 0.672000 4 20 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:97326937G>A ENST00000328504.3 + 1 319 c.52G>A c.(52-54)Gaa>Aaa p.E18K SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 14 31 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348096 180348096 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:180348096C>T ENST00000410066.1 - 6 1176 c.573G>A c.(571-573)acG>acA p.T191T ZNF385B_ENST00000336917.5_Silent_p.T89T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.T115T NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 191 nucleus nucleic acid binding|zinc ion binding p.T191T(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GTTTATTTTTCGTTGCGTCTA 0.468000 16 48 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032474 142032474 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142032474C>T ENST00000547918.2 + 0 327 CTCTGAAGTTCCAGCGCACAC 0.557000 5 38 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044051 33044051 + Missense_Mutation SNP C C A rs138418942 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:33044051C>A ENST00000286835.7 - 20 3487 c.3105G>T c.(3103-3105)agG>agT p.R1035S SCAF4_ENST00000434667.3_Missense_Mutation_p.R1020S|SCAF4_ENST00000399804.1_Missense_Mutation_p.R1013S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 1035 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CAGGGCTCCTCCTTCCCCACT 0.488000 19 41 7.21436e-19 7.31862e-19 1 1 0 APOB 338 broad.mit.edu 37 2 21233980 21233980 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:21233980C>T ENST00000233242.1 - 26 5887 c.5760G>A c.(5758-5760)tgG>tgA p.W1920* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1920 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.W1920C(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATGTTCTCCCCAGAGAGCGA 0.458000 62 127 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39286823 39286823 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39286823G>A ENST00000425054.2 - 2 299 c.300C>T c.(298-300)ttC>ttT p.F100F KCNK16_ENST00000437525.2_Silent_p.F100F|KCNK16_ENST00000373227.4_Silent_p.F100F|KCNK16_ENST00000373229.5_Silent_p.F100F|KCNK16_ENST00000507712.1_Silent_p.F35F NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 100 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 TGCCTGCAAAGAAGAAACTGC 0.547000 10 75 0 0 1 0 0 CSN1S1 1446 broad.mit.edu 37 4 70810601 70810601 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:70810601C>T ENST00000246891.4 + 15 485 c.436C>T c.(436-438)Ccc>Tcc p.P146S CSN1S1_ENST00000507763.1_Missense_Mutation_p.P137S|CSN1S1_ENST00000505782.1_Missense_Mutation_p.P130S|CSN1S1_ENST00000444405.3_Missense_Mutation_p.P137S|CSN1S1_ENST00000507772.1_Missense_Mutation_p.P138S NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 146 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 TGCTGCCTACCCCTATGCTGT 0.408000 94 214 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35086443 35086443 + Splice_Site SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:35086443C>G ENST00000382002.5 - 4 497 c.e4-1 PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Splice_Site|PRLR_ENST00000397391.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGTAACTGTCCTAGAAAAAGC 0.468000 18 53 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41694357 41694357 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:41694357G>A ENST00000313860.7 + 26 3236 c.3182G>A c.(3181-3183)cGa>cAa p.R1061Q LIMCH1_ENST00000514096.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1047Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R894Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1034Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R868Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1035Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R958Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R880Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R875Q|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R888Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1445Q NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1061 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTTAGGATTCGAAATGGTCTC 0.428000 26 47 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106121871 106121871 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:106121871G>A ENST00000369704.3 + 3 516 c.382G>A c.(382-384)Gtg>Atg p.V128M CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 128 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGAGGAAATAGTGAACCTGAC 0.468000 5 16 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73809191 73809191 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:73809191G>A ENST00000334126.7 - 16 3068 c.2842C>T c.(2842-2844)Cga>Tga p.R948* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.R948* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 948 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AAAAAGACTCGAAGACTCCCA 0.473000 22 47 0 0 1 0 0 C9orf37 85026 broad.mit.edu 37 9 140510306 140510306 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:140510306G>A ENST00000371417.3 - 3 886 c.346C>T c.(346-348)Ctt>Ttt p.L116F C9orf37_ENST00000496793.1_5'UTR NM_032937.4 NP_116326.2 Q9H2J1 CI037_HUMAN chromosome 9 open reading frame 37 116 breast(1)|large_intestine(2) 3 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) ACGTCTCCAAGGCCTGAAAGG 0.657000 13 25 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29194925 29194925 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:29194925G>A ENST00000240100.2 - 4 1192 c.803C>T c.(802-804)gCc>gTc p.A268V DUSP4_ENST00000240101.2_Missense_Mutation_p.A177V NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 268 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GTCCTTCACGGCATCTGGGGA 0.662000 13 18 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25708206 25708206 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:25708206G>A ENST00000520164.1 - 15 2137 c.1600C>T c.(1600-1602)Cct>Tct p.P534S EBF2_ENST00000408929.3_Missense_Mutation_p.P386S|EBF2_ENST00000535548.1_3'UTR NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 534 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGACAGCAGGAAAAACTGAA 0.507000 18 11 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42807079 42807079 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:42807079G>A ENST00000514985.1 - 3 591 c.335C>T c.(334-336)cCt>cTt p.P112L SEPP1_ENST00000506577.1_Missense_Mutation_p.P112L|SEPP1_ENST00000511224.1_Missense_Mutation_p.P112L|SEPP1_ENST00000507920.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_Intron NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 112 P -> S. response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTGATAAACAGGAATATGCTC 0.308000 10 25 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261172 62261172 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:62261172C>T ENST00000416284.3 - 2 1619 c.35G>A c.(34-36)gGa>gAa p.G12E FAM19A2_ENST00000551449.1_Missense_Mutation_p.G12E|FAM19A2_ENST00000551619.1_Missense_Mutation_p.G12E NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 12 cytoplasm p.G12E(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TAGCAGTTTTCCTTTTGTTGC 0.294000 27 48 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141735999 141735999 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:141735999G>A ENST00000475668.2 + 17 2044 c.1990G>A c.(1990-1992)Gac>Aac p.D664N MGAM_ENST00000549489.2_Missense_Mutation_p.D664N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 664 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTTGCTTTGGACACCCCTGA 0.512000 13 25 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41763489 41763489 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41763489G>A ENST00000301178.4 + 19 2478 c.2288G>A c.(2287-2289)cGc>cAc p.R763H AXL_ENST00000593513.1_Missense_Mutation_p.R495H|AXL_ENST00000359092.3_Missense_Mutation_p.R754H NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 763 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GACTATCTGCGCCAGGGAAAT 0.562000 52 93 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39203057 39203057 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:39203057C>T ENST00000351578.6 - 2 196 c.6G>A c.(4-6)gcG>gcA p.A2A FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 2 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTTATATTTCGCCATGAGGG 0.433000 35 37 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321881 55321881 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55321881C>G ENST00000314644.2 + 1 99 c.99C>G c.(97-99)ttC>ttG p.F33L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AGCAAATTTTCCTTTGTCCTA 0.368000 HNSCC(20;0.049) 31 80 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980848 40980848 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:40980848C>T ENST00000373198.3 - 10 1873 c.1638G>A c.(1636-1638)cgG>cgA p.R546R PTPRT_ENST00000373187.1_Silent_p.R546R|PTPRT_ENST00000373201.1_Silent_p.R546R|PTPRT_ENST00000373193.3_Silent_p.R546R|PTPRT_ENST00000373184.1_Silent_p.R546R|PTPRT_ENST00000356100.2_Silent_p.R546R|PTPRT_ENST00000373190.1_Silent_p.R546R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 546 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGTTTCATTCCGGAGCTTGA 0.562000 22 47 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124819002 124819002 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124819002G>A ENST00000356219.3 - 42 6749 c.6594C>T c.(6592-6594)gcC>gcT p.A2198A NCOR2_ENST00000404621.1_Silent_p.A2181A|NCOR2_ENST00000429285.2_Silent_p.A2181A|NCOR2_ENST00000405201.1_Silent_p.A2191A|NCOR2_ENST00000404121.2_Silent_p.A1752A|NCOR2_ENST00000397355.1_Silent_p.A2182A NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2202 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGAGCCACGGGCCGGGGCAC 0.726000 11 6 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905399 15905399 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15905399G>A ENST00000308940.8 + 1 639 c.541G>A c.(541-543)Gtg>Atg p.V181M NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTTCTGCCACGTGCCACCTCT 0.582000 24 51 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329707 126329707 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126329707C>T ENST00000394329.3 + 4 5691 c.5678C>T c.(5677-5679)cCt>cTt p.P1893L FAT4_ENST00000335110.5_Missense_Mutation_p.P191L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1893 Cadherin 18. 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 TTCCTGAATCCTATTACTGGG 0.378000 24 60 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613161 48613161 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:48613161G>A ENST00000328333.8 - 72 5984 c.5877C>T c.(5875-5877)atC>atT p.I1959I COL7A1_ENST00000454817.1_Silent_p.I1927I NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1959 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGTCTCCACGATCTCCCGCA 0.682000 13 34 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440175 135440175 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:135440175G>A ENST00000443774.1 - 1 121 c.72C>T c.(70-72)ttC>ttT p.F24F FRG2B_ENST00000425520.1_Silent_p.F24F Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 24 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGATCTGTTGGAAAGGGGGCT 0.493000 15 147 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26101399 26101399 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:26101399G>A ENST00000313735.6 - 12 1593 c.1360C>T c.(1360-1362)Cgt>Tgt p.R454C NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 454 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CAGCCCCCACGGGACCGGTAT 0.557000 36 57 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7340653 7340653 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7340653A>T ENST00000323206.1 + 3 1628 c.1355A>T c.(1354-1356)cAc>cTc p.H452L RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.H452L|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 452 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) ACGTTGCCTCACTATTTTCTG 0.706000 4 16 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70956752 70956752 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70956752C>T ENST00000334414.6 - 16 4084 c.4040G>A c.(4039-4041)aGa>aAa p.R1347K PTPRB_ENST00000551525.1_Missense_Mutation_p.R1346K|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1039K|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1039K|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1129K|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1259K|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1039K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1129 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AACTTGAGCTCTCTCCTGGAG 0.517000 17 32 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101924541 101924541 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101924541C>T ENST00000348070.1 - 11 1396 c.1397G>A c.(1396-1398)gGc>gAc p.G466D PCSK6_ENST00000331826.7_Missense_Mutation_p.G301D|PCSK6_ENST00000358417.3_Missense_Mutation_p.G466D|PCSK6_ENST00000398181.2_Missense_Mutation_p.G466D|PCSK6_ENST00000344273.2_Missense_Mutation_p.G466D|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 467 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGACCCGCGCCGTTCACTTT 0.572000 9 9 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 57913682 57913682 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:57913682C>T ENST00000282878.4 + 2 406 c.237C>T c.(235-237)atC>atT p.I79I NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 79 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AAAAGAGAATCAAGCTTCAGA 0.398000 9 8 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459573 56459573 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56459573C>T ENST00000291971.3 + 1 376 c.305C>T c.(304-306)tCg>tTg p.S102L NLRP8_ENST00000590542.1_Missense_Mutation_p.S102L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 102 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GATGTGACTTCGAACATCTTT 0.507000 20 42 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071640 53071640 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:53071640G>A ENST00000276480.7 - 15 2307 c.1624C>T c.(1624-1626)Cct>Tct p.P542S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 542 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTCGATTAGGAAATTTCACT 0.438000 41 19 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74450975 74450975 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74450975C>T ENST00000307439.5 - 6 783 c.489G>A c.(487-489)agG>agA p.R163R RASSF6_ENST00000395777.2_Silent_p.R163R|RASSF6_ENST00000335049.5_Silent_p.R151R|RASSF6_ENST00000342081.3_Silent_p.R195R NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 195 S -> P (in dbSNP:rs12507775). apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAGGCTTCATCCTTTTTCTCA 0.413000 25 38 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61034971 61034971 + Missense_Mutation SNP G G A rs144830880 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:61034971G>A ENST00000335613.5 - 16 2314 c.1928C>T c.(1927-1929)cCg>cTg p.P643L VWCE_ENST00000535710.1_Missense_Mutation_p.P108L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 643 VWFC 5. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CAGCACAGACGGGAAGGTCTC 0.592000 27 60 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508128 71508128 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71508128C>T ENST00000396073.3 + 9 1266 c.985C>T c.(985-987)Cct>Tct p.P329S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 329 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAGAAATTTTCCTTCAGGAAG 0.448000 26 64 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694454 49694454 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49694454C>T ENST00000296452.4 + 5 7579 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2489 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCGAGGGCCTCCCCTAGCGGC 0.642000 8 20 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66480342 66480342 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:66480342C>T ENST00000256447.4 - 3 486 c.329G>A c.(328-330)gGa>gAa p.G110E NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 110 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) CAGGGGATTTCCAGTTAACAC 0.368000 37 71 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13545678 13545678 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:13545678C>T ENST00000295757.3 + 9 917 c.734C>T c.(733-735)tCc>tTc p.S245F HDAC11_ENST00000522202.1_Missense_Mutation_p.S194F|HDAC11_ENST00000437379.2_Missense_Mutation_p.S217F|HDAC11_ENST00000433119.1_Missense_Mutation_p.P203S|HDAC11_ENST00000446613.2_Missense_Mutation_p.S53F|HDAC11_ENST00000405025.1_Missense_Mutation_p.P85S|HDAC11_ENST00000404548.1_Missense_Mutation_p.P113S|HDAC11_ENST00000404040.1_Missense_Mutation_p.S145F|HDAC11_ENST00000402259.1_Missense_Mutation_p.S79F|HDAC11_ENST00000402271.1_Missense_Mutation_p.S166F NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 245 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 ATCAAGAAATCCCTCCAGGAG 0.602000 25 32 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627422 38627422 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38627422G>A ENST00000413689.1 - 16 2740 c.2547C>T c.(2545-2547)atC>atT p.I849I SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000333535.4_Silent_p.I849I|SCN5A_ENST00000450102.2_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 849 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGATGAACACGATGATGGCTA 0.567000 35 61 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32011172 32011172 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32011172C>T ENST00000432498.1 + 28 3507 c.3114C>T c.(3112-3114)ggC>ggT p.G1038G SFI1_ENST00000540643.1_Silent_p.G1014G|SFI1_ENST00000400288.2_Silent_p.G1069G|SFI1_ENST00000400289.1_Silent_p.G987G|SFI1_ENST00000414585.1_Silent_p.G916G|SFI1_ENST00000443011.1_Silent_p.G916G|SFI1_ENST00000443326.1_Silent_p.G987G|SFI1_ENST00000474741.1_3'UTR NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 1069 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GCGCCCCTGGCCCGAAGCAGC 0.721000 9 22 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51052998 51052998 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:51052998C>T ENST00000442544.2 + 28 4739 c.4123C>T c.(4123-4125)Cct>Tct p.P1375S RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1375 P -> H (in a colorectal carcinoma). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCCACTCTTCCTAAGACCCA 0.458000 29 100 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926307 70926307 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70926307C>T ENST00000603540.1 + 2 2349 c.2091C>T c.(2089-2091)ttC>ttT p.F697F ADAM21_ENST00000267499.3_Silent_p.F697F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 697 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTTTGACTTTCCTGTTTACTG 0.418000 19 27 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 14 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3701755 3701755 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:3701755C>T ENST00000378251.1 - 3 1117 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K RP1-286D6.5_ENST00000607459.1_RNA NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 364 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CAGAGATCTTCGTGGAGCTTG 0.617000 27 60 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336611 126336611 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126336611G>A ENST00000394329.3 + 5 6506 c.6493G>A c.(6493-6495)Gaa>Aaa p.E2165K FAT4_ENST00000335110.5_Missense_Mutation_p.E463K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2165 Cadherin 21. 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 GGAGATTAATGAAAACACACT 0.388000 32 50 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169081470 169081470 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:169081470G>A ENST00000256935.8 + 2 187 c.107G>A c.(106-108)cGa>cAa p.R36Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 36 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.R36Q(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATGTGGTGCGAATACAGGAG 0.582000 19 36 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711356 42711356 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:42711356G>A ENST00000230882.4 + 7 856 c.666G>A c.(664-666)gtG>gtA p.V222V GHR_ENST00000537449.1_Silent_p.V35V|GHR_ENST00000357703.3_Silent_p.V200V NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 222 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding p.V222V(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATTGAAAGTGGATAAGGAAT 0.408000 50 82 0 0 1 0 0 MPST 4357 broad.mit.edu 37 22 37425309 37425309 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37425309C>T ENST00000397225.2 + 3 1563 c.648C>T c.(646-648)ttC>ttT p.F216F MPST_ENST00000429360.2_Silent_p.F216F|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000397129.1_Silent_p.F236F|MPST_ENST00000404802.3_Silent_p.F216F|MPST_ENST00000401419.3_Silent_p.F216F|MPST_ENST00000341116.3_Silent_p.F216F P25325 THTM_HUMAN mercaptopyruvate sulfurtransferase 216 Rhodanese 2. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 TCACAGACTTCCTGAGCCAGG 0.572000 17 34 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053802 97053802 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:97053802G>A ENST00000326771.2 + 5 739 c.359G>A c.(358-360)gGa>gAa p.G120E FHL5_ENST00000541107.1_Missense_Mutation_p.G120E NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 120 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GAATTTAAGGGAAACTACTGG 0.373000 20 15 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113722539 113722539 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:113722539C>T ENST00000550785.1 + 18 1801 c.1632C>T c.(1630-1632)tcC>tcT p.S544S TPCN1_ENST00000335509.6_Silent_p.S472S|TPCN1_ENST00000392569.4_Silent_p.S404S|TPCN1_ENST00000541517.1_Silent_p.S544S NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 472 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ACTTCTTCTCCAAGCACGTGC 0.517000 32 55 0 0 1 0 0 CCDC109B 55013 broad.mit.edu 37 4 110606415 110606415 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:110606415T>C ENST00000394650.4 + 7 958 c.825T>C c.(823-825)acT>acC p.T275T NM_017918.4 NP_060388.2 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 275 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) AGGATTATACTTACTCAGCTG 0.358000 18 28 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23406278 23406278 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:23406278G>A ENST00000216036.4 - 5 651 c.455C>T c.(454-456)tCc>tTc p.S152F NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 152 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TACCAGTGAGGAAATCAGACC 0.602000 18 61 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642979 1642979 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:1642979C>T ENST00000399682.1 - 1 389 c.345G>A c.(343-345)ggG>ggA p.G115G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 115 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCTTGGAACCCCCACAGGAGC 0.662000 26 67 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:30973992G>A ENST00000295055.8 - 11 1389 c.1213C>T c.(1213-1215)Cca>Tca p.P405S CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.P405S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463000 7 21 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388940 160388940 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160388940C>T ENST00000368061.2 + 4 815 c.341C>T c.(340-342)aCc>aTc p.T114I NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 114 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCGGGGGCCACCCTGGCACTG 0.667000 27 47 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59166667 59166667 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59166667C>T ENST00000262717.4 + 3 893 c.495C>T c.(493-495)ttC>ttT p.F165F CDH20_ENST00000538374.1_Silent_p.F165F|CDH20_ENST00000536675.2_Silent_p.F165F Q9HBT6 CAD20_HUMAN cadherin 20, type 2 165 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) AGCCCAAGTTCCTGGACGGAC 0.498000 28 47 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510503 71510503 + Silent SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71510503A>G ENST00000396073.3 + 9 3641 c.3360A>G c.(3358-3360)ccA>ccG p.P1120P ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1120 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AACACAGTCCATTTGAATTCC 0.423000 27 48 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440531 124440531 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124440531C>T ENST00000284287.3 + 1 639 c.567C>T c.(565-567)ctC>ctT p.L189L NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L189L(1) haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GTGAGCACCTCATCAGTCACT 0.498000 30 48 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407305 148407305 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:148407305C>T ENST00000538184.1 - 7 1519 c.631G>A c.(631-633)Gga>Aga p.G211R SH3TC2_ENST00000512049.1_Missense_Mutation_p.G657R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G549R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.G664R Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 664 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) GGAGGGTGTCCAGAGAGGAGC 0.597000 23 38 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23217758 23217758 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:23217758G>A ENST00000389131.3 - 3 745 c.376C>T c.(376-378)Ctc>Ttc p.L126F RP11-177H13.2_ENST00000519692.1_RNA NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 126 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GTACAGTGGAGATTGTCTAAC 0.577000 10 9 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70966503 70966503 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:70966503C>T ENST00000357250.6 - 21 1629 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K COL9A1_ENST00000320755.7_Missense_Mutation_p.E248K|COL9A1_ENST00000370499.4_Missense_Mutation_p.E248K|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 491 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGCCCAGGTTCACCATCTAAG 0.398000 8 9 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90190845 90190845 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90190845C>G ENST00000394412.3 - 6 1618 c.1542G>C c.(1540-1542)atG>atC p.M514I NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 514 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGTACTGCTCCATGGCGTCCT 0.632000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908894 158908894 + Nonsense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158908894G>T ENST00000368140.1 + 4 681 c.436G>T c.(436-438)Gag>Tag p.E146* PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.E146*|PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.E137*|PYHIN1_ENST00000368135.4_Nonsense_Mutation_p.E146*|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.E137* NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 146 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ATCTGAAGAAGAGACTGGAAC 0.438000 12 21 7.03913e-09 7.09981e-09 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50946101 50946101 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:50946101G>A ENST00000374103.4 - 19 2494 c.2409C>T c.(2407-2409)ttC>ttT p.F803F OGDHL_ENST00000432695.1_Silent_p.F594F|OGDHL_ENST00000419399.1_Silent_p.F746F|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 803 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGCTCACCTCGAAGTCCTTGG 0.612000 84 137 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143536 177143536 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:177143536G>A ENST00000296525.3 - 3 425 c.312C>T c.(310-312)gtC>gtT p.V104V ASB5_ENST00000512254.1_Silent_p.V51V|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 104 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCAATGGGGTGACATGGTCTA 0.388000 38 52 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89888625 89888625 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:89888625G>A ENST00000435811.1 - 9 1707 c.1253C>T c.(1252-1254)tCc>tTc p.S418F GABRR1_ENST00000454853.2_Missense_Mutation_p.S435F|GABRR1_ENST00000369451.3_Missense_Mutation_p.S348F NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 435 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) CCTCTGTGGGGAGCTCCTCTC 0.512000 49 34 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100345948 100345948 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100345948G>A ENST00000542585.1 + 0 1252 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATCCCCCAGAGGGTTTTCCTC 0.567000 23 46 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7473361 7473361 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7473361C>T ENST00000399422.4 + 6 1010 c.962C>T c.(961-963)cCc>cTc p.P321L NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 321 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGCAGTCCTCCCACTGTGTAC 0.468000 10 30 0 0 1 0 0 FIBP 9158 broad.mit.edu 37 11 65651878 65651878 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65651878G>A ENST00000338369.2 - 9 1122 c.1010C>T c.(1009-1011)tCc>tTc p.S337F FIBP_ENST00000533045.1_Silent_p.L322L|FIBP_ENST00000357519.4_Missense_Mutation_p.S330F NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 337 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) GCCATCGAGGGAGTGGACAGA 0.617000 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9297013 9297013 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9297013C>T ENST00000344248.2 + 1 735 c.556C>T c.(556-558)Cag>Tag p.Q186* NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 186 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 GTACATCCTCCAGCTGGCCTG 0.433000 64 132 0 0 1 0 0 YPEL5 51646 broad.mit.edu 37 2 30379532 30379532 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:30379532C>T ENST00000379520.3 + 4 519 c.15C>T c.(13-15)ttC>ttT p.F5F YPEL5_ENST00000402708.1_Silent_p.F5F|YPEL5_ENST00000402003.3_Silent_p.F5F|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Silent_p.F5F|YPEL5_ENST00000261353.4_Silent_p.F5F NM_001127401.1 NP_001120873.1 P62699 YPEL5_HUMAN yippee-like 5 (Drosophila) 5 peptide-methionine-(S)-S-oxide reductase activity p.F5F(1) NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) GCAGAATTTTCCTTGATCATA 0.418000 35 75 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496364 135496364 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:135496364G>A ENST00000394143.1 + 25 9374 c.9083G>A c.(9082-9084)gGa>gAa p.G3028E GPR112_ENST00000412101.1_Missense_Mutation_p.G2823E|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823E|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028E|GPR112_ENST00000287534.4_Missense_Mutation_p.G2747E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3028 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) AAACAGGAGGGACTAAAGAAA 0.388000 40 14 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196866423 196866423 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196866423G>A ENST00000312428.6 - 11 1249 c.1149C>T c.(1147-1149)ttC>ttT p.F383F DNAH7_ENST00000410072.1_Silent_p.F383F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 383 Stem (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 TTAAGTCCGTGAAATCTTGCA 0.368000 28 59 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862225 5862225 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5862225C>T ENST00000329322.5 - 1 902 c.903G>A c.(901-903)agG>agA p.R301R TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.R305R NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCACTGTCTCCCTAATATGTT 0.433000 24 72 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877858 130877858 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:130877858C>T ENST00000357462.5 - 1 324 c.231G>A c.(229-231)aaG>aaA p.K77K POTEF_ENST00000360967.5_Silent_p.K77K|POTEF_ENST00000409914.2_Silent_p.K77K|POTEF_ENST00000361163.4_Silent_p.K77K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 77 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 CCACGTTGCTCTTGCCACTCC 0.597000 58 164 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110466781 110466781 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:110466781G>A ENST00000329608.6 + 6 1929 c.1538G>A c.(1537-1539)gGa>gAa p.G513E CSF1_ENST00000369802.3_Missense_Mutation_p.G513E|CSF1_ENST00000344188.5_Missense_Mutation_p.G397E|CSF1_ENST00000420111.2_Missense_Mutation_p.G215E|CSF1_ENST00000369801.1_Missense_Mutation_p.G397E NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 513 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGGCCGTCGGAGGCCTCTTG 0.642000 14 20 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245527 166245527 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:166245527C>T ENST00000375437.2 + 27 5501 c.5211C>T c.(5209-5211)caC>caT p.H1737H SCN2A_ENST00000375427.2_Silent_p.H1737H|SCN2A_ENST00000283256.6_Silent_p.H1737H|SCN2A_ENST00000357398.3_Silent_p.H1737H NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1737 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ACAAAGATCACCCTGGAAGCT 0.453000 88 119 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40976935 40976935 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40976935G>A ENST00000313164.9 + 16 2517 c.2158G>A c.(2158-2160)Gaa>Aaa p.E720K C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 720 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AATGCCCTACGAATGTGGGTA 0.388000 6 6 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115394972 115394972 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:115394972G>A ENST00000393780.3 + 3 719 c.251G>A c.(250-252)aGg>aAg p.R84K GAP43_ENST00000305124.6_Missense_Mutation_p.R48K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 48 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CACATAACAAGGAAAAAGCTC 0.458000 14 34 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179604914 179604914 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:179604914C>T ENST00000444136.1 + 9 1662 c.1412C>T c.(1411-1413)tCc>tTc p.S471F TDRD5_ENST00000294848.8_Missense_Mutation_p.S471F|TDRD5_ENST00000367614.1_Missense_Mutation_p.S471F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 471 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GACACCAGTTCCCTCATAGGG 0.453000 24 39 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137785187 137785187 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:137785187G>A ENST00000315930.6 - 3 1022 c.361C>T c.(361-363)Ctg>Ttg p.L121L FGF13_ENST00000541469.1_Silent_p.L75L|FGF13_ENST00000441825.2_Silent_p.L102L|FGF13_ENST00000370603.3_Silent_p.L131L|FGF13_ENST00000305414.4_Silent_p.L68L NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 121 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GCCAAGTACAGCTTGGTTTGA 0.393000 35 23 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50008401 50008401 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:50008401C>T ENST00000451037.2 - 3 1168 c.228G>A c.(226-228)atG>atA p.M76I CA10_ENST00000285273.4_Missense_Mutation_p.M76I|CA10_ENST00000570565.1_Start_Codon_SNP_p.M1I|CA10_ENST00000442502.2_Missense_Mutation_p.M76I|CA10_ENST00000340813.6_Missense_Mutation_p.M82I NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 76 brain development p.M76I(2) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGTCGAAGATCATGTGACTGG 0.498000 71 147 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85712224 85712224 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:85712224C>T ENST00000253462.3 - 4 454 c.354G>A c.(352-354)aaG>aaA p.K118K NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 118 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 CCCACATATCCTTGACCAGGG 0.542000 44 68 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467023 21467023 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21467023G>A ENST00000281523.2 - 6 1331 c.813C>T c.(811-813)atC>atT p.I271I NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 271 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCACATCACAGATTTCACAGT 0.433000 39 68 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599666 123599666 + Silent SNP C C T rs141795729 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:123599666C>T ENST00000340011.5 + 5 1530 c.1173C>T c.(1171-1173)aaC>aaT p.N391N SPAM1_ENST00000223028.7_Silent_p.N391N|SPAM1_ENST00000460182.1_Silent_p.N391N|SPAM1_ENST00000402183.2_Silent_p.N391N|SPAM1_ENST00000439500.1_Silent_p.N391N NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 391 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TAAGGAAAAACTGGAATTCAA 0.413000 27 116 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3909578 3909578 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:3909578G>C ENST00000450849.2 + 7 1209 c.742G>C c.(742-744)Ggc>Cgc p.G248R ATCAY_ENST00000600960.1_Missense_Mutation_p.G248R|ATCAY_ENST00000398448.3_Missense_Mutation_p.G254R|ATCAY_ENST00000301260.6_Missense_Mutation_p.G248R NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 248 CRAL-TRIO. transport protein binding p.G248C(1) breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GCCTGGAATCGGCTGGCTGAA 0.592000 6 9 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48027120 48027120 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:48027120C>T ENST00000295461.5 + 2 148 c.82C>T c.(82-84)Cag>Tag p.Q28* NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 28 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 AAACTCCTCCCAGGCTTGGTG 0.453000 41 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057364 9057364 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9057364G>A ENST00000397910.4 - 3 30285 c.30082C>T c.(30082-30084)Cct>Tct p.P10028S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10030 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 GTCGTGACAGGTAAGGACAAC 0.458000 8 17 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400693 89400693 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89400693C>T ENST00000439576.2 + 12 5251 c.4877C>T c.(4876-4878)cCc>cTc p.P1626L ACAN_ENST00000561243.1_Missense_Mutation_p.P1626L|ACAN_ENST00000352105.7_Missense_Mutation_p.P1626L|ACAN_ENST00000559004.1_Missense_Mutation_p.P1626L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1626 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGGTCTTCCCTCTGGATTT 0.522000 39 67 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178528653 178528653 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:178528653C>T ENST00000286063.5 - 19 2904 c.2587G>A c.(2587-2589)Gat>Aat p.D863N PDE11A_ENST00000449286.2_Missense_Mutation_p.D505N|PDE11A_ENST00000409504.1_Missense_Mutation_p.D505N|PDE11A_ENST00000450799.2_Missense_Mutation_p.D54N|PDE11A_ENST00000389683.3_Missense_Mutation_p.D419N|PDE11A_ENST00000358450.4_Missense_Mutation_p.D613N NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 863 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGCAGTTCATCCTTCCGGTTC 0.453000 Primary Pigmented Nodular Adrenocortical Disease, Familial 14 39 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 148016583 148016583 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:148016583G>A ENST00000520086.1 - 3 282 c.258C>T c.(256-258)ttC>ttT p.F86F HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000314512.6_5'UTR|HTR4_ENST00000517929.1_5'UTR|HTR4_ENST00000354217.2_5'UTR|HTR4_ENST00000377888.3_5'UTR|HTR4_ENST00000362016.2_5'UTR|HTR4_ENST00000360693.3_5'UTR|HTR4_ENST00000521530.1_5'UTR Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TCCATTACAGGAAATAAGCAT 0.353000 22 46 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236975 33236975 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33236975C>T ENST00000401073.2 + 6 2265 c.2195C>T c.(2194-2196)tCc>tTc p.S732F KIAA1522_ENST00000373481.3_Missense_Mutation_p.S684F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S673F|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 673 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCCCCACCTTCCCCACCCCCA 0.597000 15 20 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128105 117128105 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:117128105C>T ENST00000310357.3 - 3 784 c.763G>A c.(763-765)Gaa>Aaa p.E255K GPRC6A_ENST00000530250.1_Missense_Mutation_p.E255K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E255K NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 255 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTCTGACTTCAATGGTATTA 0.373000 17 12 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518245 84518245 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:84518245G>A ENST00000331369.5 + 0 439 AGAAGGACATGAAGAAAGCCA 0.468000 18 36 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729315 35729315 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:35729315G>A ENST00000187397.4 + 6 802 c.346G>A c.(346-348)Gaa>Aaa p.E116K ARPP21_ENST00000444190.1_Missense_Mutation_p.E116K|ARPP21_ENST00000458225.1_Missense_Mutation_p.E116K|ARPP21_ENST00000417925.1_Missense_Mutation_p.E116K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E116K NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 116 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAGAGAAAAAGAAAAGGATAA 0.338000 25 54 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62415655 62415655 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62415655G>A ENST00000330574.2 - 2 1949 c.1897C>T c.(1897-1899)Ccc>Tcc p.P633S NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 633 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GAAGGAAAGGGACAAATGGCC 0.597000 11 25 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112144689 112144689 + Silent SNP G G A rs150855452 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:112144689G>A ENST00000412145.1 - 19 4581 c.2028C>T c.(2026-2028)gtC>gtT p.V676V PTPN3_ENST00000262539.3_Silent_p.V653V|PTPN3_ENST00000394827.3_Silent_p.V275V|PTPN3_ENST00000446349.1_Silent_p.V631V|PTPN3_ENST00000374541.2_Silent_p.V807V NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 807 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CAGGCCATGCGACGTACTGGA 0.577000 25 60 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20762649 20762649 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:20762649C>T ENST00000404938.2 + 21 3084 c.2432C>T c.(2431-2433)tCc>tTc p.S811F ABCB5_ENST00000258738.6_Missense_Mutation_p.S366F NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 366 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAACAGGTTCCAGGATTGGC 0.353000 24 66 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142575428 142575428 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142575428G>A ENST00000359396.3 - 3 570 c.325C>T c.(325-327)Ccc>Tcc p.P109S RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 109 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GATGTCATGGGCTCAAAGACC 0.572000 30 144 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 35 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124395567 124395567 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124395567C>T ENST00000338354.3 + 50 6328 c.6222C>T c.(6220-6222)tcC>tcT p.S2074S DMBT1_ENST00000359586.6_Silent_p.S794S|DMBT1_ENST00000368955.3_Silent_p.S2064S|DMBT1_ENST00000344338.3_Silent_p.S2064S|DMBT1_ENST00000368909.3_Silent_p.S2074S|DMBT1_ENST00000330163.4_Silent_p.S1446S|DMBT1_ENST00000368956.2_Silent_p.S1446S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2074 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCGCAGTTCCCCTCTCATTG 0.502000 14 39 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160061526 160061526 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160061526C>T ENST00000327245.5 - 12 2062 c.1216G>A c.(1216-1218)Gat>Aat p.D406N CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 406 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCTCTTCATCATACAGGTCA 0.493000 33 61 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100206089 100206089 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:100206089C>T ENST00000547776.2 - 3 215 c.215_splice c.e3-1 p.K72_splice ANKS1B_ENST00000329257.7_Splice_Site_p.K72_splice|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 72 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAACTATGTCCCTAAAAAGGA 0.373000 18 25 0 0 1 0 0 NBL1 4681 broad.mit.edu 37 1 19981608 19981608 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:19981608C>T ENST00000375136.3 + 2 388 c.85C>T c.(85-87)Cca>Tca p.P29S MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.P29S|NBL1_ENST00000548815.1_Missense_Mutation_p.P28S|NBL1_ENST00000289749.2_Missense_Mutation_p.P64S NM_001204085.1|NM_001278164.1|NM_001278166.1 NP_001191014.1|NP_001265093.1|NP_001265095.1 P41271 NBL1_HUMAN neuroblastoma 1, DAN family BMP antagonist 28 extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCACTGTTCCCAGATAAGAG 0.622000 9 14 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183018 102183018 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:102183018G>A ENST00000306176.1 + 7 832 c.732G>A c.(730-732)tgG>tgA p.W244* ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.W228*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.W228* NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 228 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CTTTCAGATGGAATGTTTTAA 0.318000 28 57 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50484395 50484395 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50484395C>T ENST00000266182.6 - 5 397 c.398G>A c.(397-399)gGg>gAg p.G133E TTLL8_ENST00000440475.1_Missense_Mutation_p.G133E tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CACGCACAGCCCGATCTCCAG 0.647000 4 9 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116609685 116609685 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:116609685G>A ENST00000369503.4 + 12 1730 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 534 Poly-Glu. ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGAGGAAGAGGAAGAATTTTA 0.428000 5 9 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294039 219294039 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:219294039A>G ENST00000248444.5 + 7 687 c.599A>G c.(598-600)cAg>cGg p.Q200R VIL1_ENST00000440053.1_Missense_Mutation_p.Q200R|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 200 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCCGAGACCAGGAGCGGGGA 0.622000 38 62 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246224 56246224 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:56246224G>A ENST00000361673.3 - 4 1997 c.1784C>T c.(1783-1785)tCc>tTc p.S595F ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 595 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATCAGCATGGGAACTCCGACC 0.488000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 61 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011101 40011101 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:40011101G>A ENST00000315792.3 + 1 113 c.50G>A c.(49-51)cGa>cAa p.R17Q NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 17 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) ACGTCGCTACGAGTCAGCCCA 0.517000 29 19 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38212210 38212210 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:38212210C>G ENST00000323205.6 + 8 1131 c.1068C>G c.(1066-1068)ttC>ttG p.F356L GCAT_ENST00000248924.6_Missense_Mutation_p.F330L NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 330 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCCACAGGTTCCGTAGTAAGA 0.617000 15 25 0 0 1 0 0 AHSP 51327 broad.mit.edu 37 16 31539946 31539946 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31539946C>T ENST00000302312.4 + 3 346 c.243C>T c.(241-243)ttC>ttT p.F81F AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 81 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCAACCCTTTCCTGGCCAAGT 0.587000 10 26 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618055 618055 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:618055C>T ENST00000358353.3 - 15 2339 c.2017G>A c.(2017-2019)Ggg>Agg p.G673R CDHR5_ENST00000397542.2_Missense_Mutation_p.G673R|CDHR5_ENST00000349570.7_Missense_Mutation_p.G479R Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 673 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CCCAGCACCCCGCCCAGGGCC 0.652000 4 21 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12649325 12649325 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12649325C>T ENST00000425538.1 + 9 1261 c.1061C>T c.(1060-1062)tCt>tTt p.S354F MYOCD_ENST00000343344.4_Missense_Mutation_p.S354F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S258F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 354 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACAGTTTTTCTGGACAAACT 0.408000 37 78 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16437221 16437221 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:16437221G>A ENST00000380672.4 - 6 1028 c.971C>T c.(970-972)cCa>cTa p.P324L BNC2_ENST00000380666.2_Missense_Mutation_p.P324L|BNC2_ENST00000545497.1_Missense_Mutation_p.P229L|BNC2_ENST00000380667.2_Missense_Mutation_p.P257L NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GTACTGGAATGGAAGCAGAAA 0.522000 83 157 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132207750 132207750 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:132207750C>T ENST00000360971.2 + 24 2513 c.2493C>T c.(2491-2493)ttC>ttT p.F831F NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 831 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAACTCACTTCTTTATTGTGC 0.348000 13 10 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914489 147914489 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:147914489G>A ENST00000361727.3 + 19 3636 c.3120G>A c.(3118-3120)caG>caA p.Q1040Q CNTNAP2_ENST00000538075.1_Silent_p.Q99Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1040 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGACCAGCAGAACTCCCACC 0.542000 HNSCC(39;0.1) 73 127 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465198 37465198 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37465198G>A ENST00000381792.2 - 16 2168 c.2028C>T c.(2026-2028)cgC>cgT p.R676R TMPRSS6_ENST00000346753.3_Silent_p.R685R|TMPRSS6_ENST00000406725.1_Silent_p.R676R|TMPRSS6_ENST00000406856.1_Silent_p.R676R Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 685 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGCAGACGGGGCGCACGGCGG 0.726000 3 6 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599136 62599136 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:62599136G>A ENST00000512091.1 + 7 1806 c.1059G>A c.(1057-1059)gtG>gtA p.V353V LPHN3_ENST00000504896.1_Silent_p.V353V|LPHN3_ENST00000511324.1_Silent_p.V421V|LPHN3_ENST00000514591.1_Silent_p.V353V|LPHN3_ENST00000545650.1_Silent_p.V353V|LPHN3_ENST00000514157.1_Silent_p.V353V|LPHN3_ENST00000509896.1_Silent_p.V421V|LPHN3_ENST00000506720.1_Silent_p.V421V|LPHN3_ENST00000508693.1_Silent_p.V421V|LPHN3_ENST00000507164.1_Silent_p.V421V|LPHN3_ENST00000507625.1_Silent_p.V421V|LPHN3_ENST00000514996.1_Silent_p.V353V|LPHN3_ENST00000506700.1_Silent_p.V353V|LPHN3_ENST00000508946.1_Silent_p.V353V|LPHN3_ENST00000506746.1_Silent_p.V421V Q9HAR2 LPHN3_HUMAN latrophilin 3 353 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATAGTTTGGTGGATGTACCCT 0.393000 17 19 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118215301 118215301 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:118215301G>A ENST00000369230.3 + 5 670 c.524G>A c.(523-525)gGg>gAg p.G175E NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 175 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CACCTGGCTGGGGAAGCTGGG 0.423000 19 47 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603275 101603275 + Splice_Site SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101603275C>T ENST00000536262.2 - 1 910 c.e1+1 NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTGCCCCTTACCTCGTAGGTG 0.577000 3 2 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16908678 16908678 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16908678C>T ENST00000524140.2 + 16 3858 c.3440C>T c.(3439-3441)tCc>tTc p.S1147F NWD1_ENST00000339803.6_Missense_Mutation_p.S1012F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1147F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1147F|NWD1_ENST00000523826.1_Missense_Mutation_p.S941F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1147F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1147 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATCACGGGGTCCCTTGATGCG 0.522000 72 141 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184942 130184942 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:130184942C>T ENST00000422113.2 - 2 707 c.381G>A c.(379-381)tgG>tgA p.W127* NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 127 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTTTAGTTTCCAGTTAAGAG 0.522000 5 21 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439698 150439698 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150439698G>A ENST00000358647.3 + 3 838 c.471G>A c.(469-471)ggG>ggA p.G157G GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGACTTAGGGGGCCAGGCCC 0.552000 36 161 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960802 73960802 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73960802C>T ENST00000373468.1 - 3 4241 c.3590G>A c.(3589-3591)aGg>aAg p.R1197K KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1197K Q5QGS0 K2022_HUMAN KIAA2022 1197 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGATTTTTTCCTGGTGTTTTT 0.428000 26 10 0 0 1 0 0 RBFA 79863 broad.mit.edu 37 18 77805969 77805969 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77805969C>T ENST00000306735.5 + 7 984 c.846C>T c.(844-846)gcC>gcT p.A282A RBFA_ENST00000262197.7_3'UTR|RBFADN_ENST00000569722.1_Intron NM_024805.2 NP_079081.2 Q8N0V3 RBFA_HUMAN ribosome binding factor A (putative) 282 rRNA processing mitochondrion endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 GGAAGAGGGCCAAGCCCCGCC 0.587000 10 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597727 179597727 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179597727C>T ENST00000589042.1 - 55 16400 c.16176G>A c.(16174-16176)aaG>aaA p.K5392K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.K5075K|TTN_ENST00000342992.6_Silent_p.K4148K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5075 Ig-like 34. 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) CTTTGCCATCCTTAAACCAGG 0.478000 6 20 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120567141 120567141 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120567141G>A ENST00000300648.6 - 57 7841 c.7829C>T c.(7828-7830)gCc>gTc p.A2610V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2610 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCGCTGTAGGCCCTGACCAC 0.587000 61 97 0 0 1 0 0 CTSS 1520 broad.mit.edu 37 1 150727607 150727607 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:150727607G>A ENST00000368985.3 - 4 529 c.269C>T c.(268-270)tCt>tTt p.S90F CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 90 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) ACTCATCAAAGACATCACTTC 0.408000 51 118 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42931279 42931279 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:42931279A>T ENST00000244289.4 - 1 299 c.23T>A c.(22-24)gTg>gAg p.V8E LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 8 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGACCTAGACACTGACTTAGA 0.532000 15 21 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774667 47774667 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:47774667C>T ENST00000376954.1 + 6 990 c.622C>T c.(622-624)Cat>Tat p.H208Y ZNF81_ENST00000338637.7_Missense_Mutation_p.H208Y P51508 ZNF81_HUMAN zinc finger protein 81 208 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) CTTACATATTCATAATAAAAG 0.348000 23 6 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137600165 137600165 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:137600165G>A ENST00000274721.3 - 2 410 c.164C>T c.(163-165)cCc>cTc p.P55L GFRA3_ENST00000378362.3_Missense_Mutation_p.P55L NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 55 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTGCAGGTGGGATCAGCCTG 0.597000 18 28 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358358 10358358 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10358358C>T ENST00000255381.2 - 21 2445 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 779 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTCGCATTTCCTCTAGAGTT 0.418000 23 45 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169539844 169539844 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:169539844C>T ENST00000340806.6 + 1 135 c.135C>T c.(133-135)ttC>ttT p.F45F NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 45 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGGAGATCTTCACATTCACAG 0.398000 31 48 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430078 10430078 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10430078G>A ENST00000245503.5 - 30 4409 c.4025C>T c.(4024-4026)tCc>tTc p.S1342F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1342F|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1342 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GTCGTGGCGGGAAGACTGCAG 0.522000 35 60 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077817 19077817 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:19077817G>A ENST00000329773.2 - 2 220 c.133C>T c.(133-135)Ctg>Ttg p.L45L NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 45 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TTTCCTACCAGCCCGACCAGG 0.567000 54 63 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49197469 49197469 + Missense_Mutation SNP C C T rs143707827 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:49197469C>T ENST00000340334.7 - 9 1284 c.916G>A c.(916-918)Gga>Aga p.G306R FOLH1_ENST00000256999.2_Missense_Mutation_p.G321R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G321R|FOLH1_ENST00000343844.4_Missense_Mutation_p.G13R|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G306R NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 321 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.G321R(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGAGACTTCCTCTCCAGCTG 0.383000 24 45 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810601 123810601 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123810601C>T ENST00000307033.2 + 1 352 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) CCTACCATTTCCTTTGGTGGA 0.468000 18 40 0 0 1 0 0 AL133373.1 0 broad.mit.edu 37 14 92040870 92040870 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:92040870G>A ENST00000596306.1 - 1 513 c.87C>T c.(85-87)ccC>ccT p.P29P CTCCTTCTCCGGGAACGGCCC 0.597000 6 4 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136628 9136628 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:9136628G>A ENST00000382496.5 - 13 2252 c.1587C>T c.(1585-1587)atC>atT p.I529I NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 529 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GACACGCAGAGATGCTCTGTT 0.582000 17 26 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815934 95815934 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:95815934G>A ENST00000295208.2 - 5 758 c.296C>T c.(295-297)tCa>tTa p.S99L ZNF514_ENST00000411425.1_Missense_Mutation_p.S99L NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TTTTTCCACTGATACTACCTG 0.393000 74 156 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4412714 4412714 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4412714G>A ENST00000251166.4 - 15 1446 c.1301C>T c.(1300-1302)tCg>tTg p.S434L CORO7_ENST00000574025.1_Missense_Mutation_p.S349L|CORO7_ENST00000423908.2_Missense_Mutation_p.S266L|CORO7_ENST00000539968.1_Missense_Mutation_p.S214L|CORO7_ENST00000537233.2_Missense_Mutation_p.S416L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S434L NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CGAGGTCAGCGAACTGGGAGG 0.667000 5 3 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152388 133152388 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:133152388G>A ENST00000388996.4 - 11 1923 c.1503C>T c.(1501-1503)ggC>ggT p.G501G KCNQ3_ENST00000519445.1_Silent_p.G501G|KCNQ3_ENST00000521134.1_Silent_p.G381G NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 501 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATTCCCATAGCCCCTGTCTT 0.622000 40 14 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16510269 16510269 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:16510269C>T ENST00000502640.1 - 7 928 c.780G>A c.(778-780)agG>agA p.R260R LDB2_ENST00000304523.5_Silent_p.R260R|LDB2_ENST00000503178.2_Silent_p.R136R|LDB2_ENST00000515064.1_Silent_p.R260R|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Silent_p.R260R O43679 LDB2_HUMAN LIM domain binding 2 260 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TGGAATTTTTCCTTTTTCTCC 0.488000 14 32 0 0 1 0 0 C17orf49 124944 broad.mit.edu 37 17 6920628 6920628 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:6920628C>T ENST00000546495.1 + 6 930 c.567C>T c.(565-567)ctC>ctT p.L189L RNASEK-C17orf49_ENST00000607129.1_3'UTR|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000546760.1_Silent_p.L154L|RNASEK-C17orf49_ENST00000606880.1_3'UTR|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000439424.2_3'UTR|C17orf49_ENST00000552775.1_Silent_p.L163L|RP11-589P10.7_ENST00000572547.1_RNA Q8IXM2 BAP18_HUMAN chromosome 17 open reading frame 49 0 chromatin modification MLL1 complex|NURF complex DNA binding kidney(1)|large_intestine(2)|ovary(1) 4 ATCCTCCTCTCCTCTCCTGCT 0.587000 27 68 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795604 17795604 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:17795604G>A ENST00000380607.4 + 9 1042 c.922G>A c.(922-924)Gag>Aag p.E308K SH3GL2_ENST00000537391.1_Missense_Mutation_p.E261K NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 308 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding p.E308K(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AAATGAAGGGGAGTTGGGATT 0.478000 11 28 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108499134 108499134 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108499134A>G ENST00000408999.3 + 22 5148 c.5071A>G c.(5071-5073)Aaa>Gaa p.K1691E RGPD4_ENST00000354986.4_Missense_Mutation_p.K1691E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1691 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CCAGCTTCTCAAAAGTGAAAT 0.393000 19 30 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142736952 142736952 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:142736952C>T ENST00000230173.6 + 20 3165 c.2689C>T c.(2689-2691)Ccc>Tcc p.P897S GPR126_ENST00000367608.2_Missense_Mutation_p.P869S|GPR126_ENST00000296932.8_Missense_Mutation_p.P869S|GPR126_ENST00000367609.3_Missense_Mutation_p.P897S NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 897 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P868S(1)|p.P897S(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAGGGATTATCCCTCCAAAAT 0.403000 24 15 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144101747 144101747 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:144101747G>A ENST00000467773.1 - 2 111 c.112C>T c.(112-114)Cct>Tct p.P38S NOBOX_ENST00000483238.1_Missense_Mutation_p.P38S NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 38 cell differentiation|oogenesis nucleus sequence-specific DNA binding p.P38S(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CCACACACAGGAAATTCAGGT 0.517000 85 111 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496898 216496898 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216496898G>A ENST00000366943.2 - 8 1854 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y USH2A_ENST00000366942.3_Missense_Mutation_p.H490Y|USH2A_ENST00000307340.3_Missense_Mutation_p.H490Y O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 490 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTGCCCATGAAAATGAAAC 0.393000 HNSCC(13;0.011) 44 86 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40415248 40415248 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:40415248G>A ENST00000333407.5 + 2 660 c.566G>A c.(565-567)cGg>cAg p.R189Q FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 189 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGTAAGCGCCGGGTCCCAGTG 0.532000 33 90 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46628055 46628055 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:46628055G>C ENST00000396000.2 + 7 1343 c.1078G>C c.(1078-1080)Gat>Cat p.D360H PPARA_ENST00000402126.1_Missense_Mutation_p.D360H|PPARA_ENST00000407236.1_Missense_Mutation_p.D360H|PPARA_ENST00000262735.5_Missense_Mutation_p.D360H|PPARA_ENST00000434345.2_3'UTR Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 360 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) ACCCAAGTTTGATTTTGCCAT 0.423000 43 206 0 0 1 0 0 PSMA8 143471 broad.mit.edu 37 18 23724572 23724572 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:23724572C>T ENST00000308268.6 + 2 241 c.152C>T c.(151-153)tCt>tTt p.S51F PSMA8_ENST00000415576.2_Missense_Mutation_p.S51F|PSMA8_ENST00000343848.6_Intron NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 51 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GAAAAAAAATCTGTTGCCAAG 0.358000 35 61 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32313824 32313824 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:32313824C>T ENST00000298386.2 + 1 146 c.75C>T c.(73-75)atC>atT p.I25I RXFP2_ENST00000380314.1_Silent_p.I25I NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 25 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTCATTTCATCGTTCTGATCA 0.318000 17 42 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65234520 65234520 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:65234520G>A ENST00000389722.3 - 29 6133 c.6080C>T c.(6079-6081)gCc>gTc p.A2027V SPTB_ENST00000389721.5_Missense_Mutation_p.A2027V|SPTB_ENST00000556626.1_Missense_Mutation_p.A2027V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2027V|SPTB_ENST00000389720.3_Missense_Mutation_p.A2027V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2027 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGGCTCCTGGGCAATCAGCCA 0.622000 22 36 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47559879 47559879 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:47559879G>A ENST00000273859.3 + 12 2292 c.2023G>A c.(2023-2025)Gag>Aag p.E675K AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 675 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGTGGAGGAAGAGGTCTCCCA 0.527000 23 44 0 0 1 0 0 DDOST 1650 broad.mit.edu 37 1 20981986 20981986 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:20981986G>A ENST00000375048.3 - 5 654 c.549C>T c.(547-549)gcC>gcT p.A183A DDOST_ENST00000602624.2_Silent_p.A166A|DDOST_ENST00000415136.2_Silent_p.A146A NM_005216.4 NP_005207.2 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 183 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGATGGTTGGGGCCTTCAGCA 0.532000 27 44 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4621703 4621703 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4621703G>A ENST00000300747.5 - 7 1550 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 421 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCCACCCGGCGAGGAGGGACC 0.537000 31 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179602908 179602908 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179602908C>T ENST00000589042.1 - 49 14496 c.14272G>A c.(14272-14274)Gaa>Aaa p.E4758K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4395K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4441K|TTN_ENST00000342992.6_Missense_Mutation_p.E3514K|TTN_ENST00000342175.6_Missense_Mutation_p.E4587K|TTN_ENST00000359218.5_Missense_Mutation_p.E4520K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4441 Ig-like 28. 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) CTCAGGATTTCAAGGCTGGAG 0.468000 19 18 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769382 88769382 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:88769382C>T ENST00000444431.1 + 0 3982 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGCTGCGGGCCACCGCTGAT 0.627000 67 98 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263037 248263037 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248263037C>T ENST00000366478.2 + 3 697 c.360C>T c.(358-360)gaC>gaT p.D120D OR2L13_ENST00000358120.2_Silent_p.D120D NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 120 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) TGGCCTACGACCGTTATTTGG 0.502000 72 127 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078455 75078455 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75078455G>A ENST00000326665.5 - 9 1257 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S C1orf173_ENST00000420661.2_Missense_Mutation_p.P150S|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 347 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGACTGAAGGGGAAACCATGA 0.413000 8 23 0 0 1 0 0 ZNF850 342892 broad.mit.edu 37 19 37253237 37253237 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37253237T>A ENST00000591344.1 - 3 267 c.109A>T c.(109-111)Atg>Ttg p.M37L ZNF850_ENST00000589390.1_Missense_Mutation_p.M37L NM_001193552.1|NM_001267779.1 NP_001180481.1|NP_001254708.1 A8MQ14 ZN850_HUMAN zinc finger protein 850 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TAGTTCTCCATCATTACATCT 0.458000 8 10 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544019 82544019 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82544019G>A ENST00000423517.2 - 7 13620 c.13283C>T c.(13282-13284)gCc>gTc p.A4428V PCLO_ENST00000437081.1_Missense_Mutation_p.A1148V|PCLO_ENST00000333891.8_Missense_Mutation_p.A4428V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4359 PDZ. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCTGACATGGCATGTTGGAA 0.438000 5 17 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868415 97868415 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:97868415C>T ENST00000437310.1 + 1 246 c.186C>T c.(184-186)ctC>ctT p.L62L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTACTTACTCCTTGGGAATT 0.403000 132 182 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101596393 101596393 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:101596393C>T ENST00000311812.2 - 12 1266 c.1116G>A c.(1114-1116)ttG>ttA p.L372L SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Silent_p.L273L NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 372 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TCATCTTTTTCAAGCAGCTAC 0.393000 44 12 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 101167781 101167781 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:101167781C>T ENST00000376285.1 + 22 2038 c.2000C>T c.(1999-2001)cCc>cTc p.P667L PCCA_ENST00000376286.4_Missense_Mutation_p.P641L|PCCA_ENST00000376279.3_Intron NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 667 Biotinyl-binding. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCCCCGATGCCCGGAGTGGTG 0.522000 OREG0022490 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 61 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518641 129518641 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:129518641C>T ENST00000276218.2 - 1 870 c.781G>A c.(781-783)Gaa>Aaa p.E261K NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 261 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGGTACCGTTCCAGCACTAGG 0.572000 41 17 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73049010 73049010 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73049010G>A ENST00000604411.1 + 0 36971 XIST_ENST00000429829.1_lincRNA NR_003255.2 TGAAGACTCAGCTCTCTGCAC 0.408000 13 6 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55282712 55282712 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:55282712G>A ENST00000358193.3 + 9 1155 c.1101G>A c.(1099-1101)aaG>aaA p.K367K C1orf177_ENST00000371273.3_Silent_p.K367K NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 367 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 TGGAGACAAAGGACAGGCGGC 0.577000 13 29 0 0 1 0 0 PYCR1 5831 broad.mit.edu 37 17 79892281 79892281 + Missense_Mutation SNP G G A rs138398362 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:79892281G>A ENST00000337943.5 - 6 1160 c.718C>T c.(718-720)Cat>Tat p.H240Y PYCR1_ENST00000329875.8_Missense_Mutation_p.H240Y|PYCR1_ENST00000403172.4_Missense_Mutation_p.H209Y|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.H267Y NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 240 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) TGCAAGGCATGGATGGTGGCC 0.652000 5 3 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364271 47364271 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:47364271G>A ENST00000399249.2 - 16 1536 c.1482C>T c.(1480-1482)acC>acT p.T494T MYBPC3_ENST00000545968.1_Silent_p.T494T|MYBPC3_ENST00000256993.4_Silent_p.T493T Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 493 Ig-like C2-type 3. R -> G (in CMH4).|R -> Q (in CMH4). cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TCTCCTCCCGGGTCAGCTCCA 0.622000 43 70 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46309222 46309222 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:46309222G>A ENST00000397850.2 - 14 2298 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S ITGB2_ENST00000302347.5_Missense_Mutation_p.P616S|ITGB2_ENST00000397857.1_Missense_Mutation_p.P616S|ITGB2_ENST00000397854.3_Missense_Mutation_p.P559S|ITGB2_ENST00000397852.1_Missense_Mutation_p.P616S|ITGB2_ENST00000355153.4_Missense_Mutation_p.P616S P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 616 Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGGCAGCCGGGGCACTCCTGG 0.682000 17 16 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179078330 179078330 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:179078330G>A ENST00000502732.1 - 12 2275 c.2072C>T c.(2071-2073)tCt>tTt p.S691F ABL2_ENST00000504405.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S670F|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S676F|ABL2_ENST00000408940.3_Missense_Mutation_p.S655F|ABL2_ENST00000511413.1_Intron NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 691 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AGAAGCAACAGATGAGAAGTT 0.517000 T ETV6 AML 68 92 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766268 171766268 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:171766268G>A ENST00000311601.5 - 13 2011 c.1841C>T c.(1840-1842)cCc>cTc p.P614L SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 614 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGGAGATGGGCCGGAGGTT 0.527000 13 29 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124267095 124267095 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124267095T>C ENST00000354597.3 - 1 169 c.153A>G c.(151-153)ctA>ctG p.L51L NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGTGAGAATTTAGACCGAAAA 0.423000 52 63 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7004974 7004974 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7004974G>A ENST00000380952.2 - 9 1120 c.856C>T c.(856-858)Cgc>Tgc p.R286C ASGR2_ENST00000355035.5_Missense_Mutation_p.R286C|ASGR2_ENST00000254850.7_Missense_Mutation_p.R262C|ASGR2_ENST00000446679.2_Missense_Mutation_p.R267C NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 286 C-type lectin. cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) TCGTTCCAGCGGCCATCCGGC 0.597000 29 48 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74396354 74396354 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:74396354G>A ENST00000319380.7 - 8 1093 c.1029C>T c.(1027-1029)gaC>gaT p.D343D NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 343 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GCTGAGCATGGTCAAAGCATC 0.592000 15 36 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926949 1926949 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:1926949C>T ENST00000399161.2 - 10 1339 c.592G>A c.(592-594)Gat>Aat p.D198N MYT1L_ENST00000428368.2_Missense_Mutation_p.D198N NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 198 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCAGTTCATCGTAATTGTCA 0.408000 8 13 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113798 59113798 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:59113798G>A ENST00000395153.3 + 4 2493 c.2346G>A c.(2344-2346)aaG>aaA p.K782K DACT1_ENST00000335867.4_Silent_p.K819K|DACT1_ENST00000395151.3_Silent_p.K538K|DACT1_ENST00000541264.2_Silent_p.K538K|DACT1_ENST00000556859.1_Silent_p.K538K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 819 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 ATAACCTCAAGAAGAAGATCC 0.453000 36 62 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57597819 57597819 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:57597819G>A ENST00000340339.4 + 5 880 c.357G>A c.(355-357)cgG>cgA p.R119R GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.R119R NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 119 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 AGCTGACCCGGGACGCCTGCA 0.627000 27 32 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111082242 111082242 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:111082242G>A ENST00000360467.5 + 8 794 c.488G>A c.(487-489)gGa>gAa p.G163E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 163 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCCAAGGACCAAAAGGG 0.453000 13 32 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35551645 35551645 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35551645C>T ENST00000262626.2 + 9 1560 c.735C>T c.(733-735)ccC>ccT p.P245P HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.P87P|HPN_ENST00000392226.1_Silent_p.P245P NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 245 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GCTATCTTCCCTTTCGGGACC 0.637000 46 64 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94564359 94564359 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:94564359G>A ENST00000370225.3 - 6 845 c.759C>T c.(757-759)ctC>ctT p.L253L ABCA4_ENST00000535735.1_Silent_p.L253L NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 253 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCACACGGAAGAGCTTGAAGA 0.587000 16 36 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40434738 40434738 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:40434738G>A ENST00000319592.4 - 5 1974 c.1265C>T c.(1264-1266)gCc>gTc p.A422V RBM47_ENST00000381795.6_Missense_Mutation_p.A422V|RBM47_ENST00000295971.7_Missense_Mutation_p.A491V|RBM47_ENST00000381793.2_Missense_Mutation_p.A491V|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_Missense_Mutation_p.A453V A0AV96 RBM47_HUMAN RNA binding motif protein 47 491 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ggctgcggcggcagcagcACT 0.587000 10 11 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414348 48414348 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48414348C>T ENST00000249598.1 - 2 679 c.520G>A c.(520-522)Gat>Aat p.D174N NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 174 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCAGAACATCATAAATGACC 0.517000 10 22 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20136055 20136055 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:20136055G>A ENST00000345530.3 - 21 2487 c.2372C>T c.(2371-2373)tCt>tTt p.S791F WDR35_ENST00000281405.4_Missense_Mutation_p.S780F|WDR35_ENST00000416055.2_Missense_Mutation_p.S356F NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 791 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCATCACCAGATCCAGTTTT 0.458000 18 40 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8621267 8621267 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:8621267G>A ENST00000429646.2 + 9 3499 c.706G>A c.(706-708)Gac>Aac p.D236N CPZ_ENST00000360986.4_Missense_Mutation_p.D628N|CPZ_ENST00000382480.2_Missense_Mutation_p.D491N|CPZ_ENST00000315782.6_Missense_Mutation_p.D617N Q66K79 CBPZ_HUMAN carboxypeptidase Z 628 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCCCTCGGCCGACGGGAGTAA 0.716000 20 26 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028704 38028704 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:38028704C>T ENST00000445217.1 + 4 1179 c.1144C>T c.(1144-1146)Ctc>Ttc p.L382F ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.L382F|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.L382F Q6ZN11 ZN793_HUMAN zinc finger protein 793 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGCCAAACCTCAGCAGACA 0.418000 6 22 0 0 1 0 0 FUCA1 2517 broad.mit.edu 37 1 24172303 24172303 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24172303C>T ENST00000374479.3 - 8 1310 c.1303G>A c.(1303-1305)Gat>Aat p.D435N NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 435 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) TTATCTGGATCTGTGGACCAC 0.438000 27 66 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276417 16276417 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:16276417G>T ENST00000205557.7 - 17 2128 c.2099C>A c.(2098-2100)gCc>gAc p.A700D ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 700 ABC transporter 1. 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) CTGCACCCAGGCCTCCTGGGG 0.577000 17 35 3.28513e-13 3.323e-13 1 1 0 NEXN 91624 broad.mit.edu 37 1 78392164 78392164 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:78392164G>A ENST00000330010.8 + 6 660 c.363G>A c.(361-363)atG>atA p.M121I NEXN_ENST00000334785.7_Missense_Mutation_p.M185I|NEXN_ENST00000457030.1_Missense_Mutation_p.M171I NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 185 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) CTGGAAAAATGAAAAAGAATT 0.308000 8 38 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656689 40656689 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:40656689G>A ENST00000406785.1 - 2 921 c.732C>T c.(730-732)atC>atT p.I244I SLC8A1_ENST00000542756.1_Silent_p.I244I|SLC8A1_ENST00000542024.1_Silent_p.I244I|SLC8A1_ENST00000408028.2_Silent_p.I244I|SLC8A1_ENST00000406391.2_Silent_p.I244I|SLC8A1_ENST00000405901.3_Silent_p.I244I|SLC8A1_ENST00000405269.1_Silent_p.I244I|SLC8A1_ENST00000403092.1_Silent_p.I244I|SLC8A1_ENST00000402441.1_Silent_p.I244I|SLC8A1_ENST00000332839.4_Silent_p.I244I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 244 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) ACACAACACAGATGGGAAAGA 0.448000 14 32 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65458980 65458980 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65458980G>A ENST00000300107.3 - 4 690 c.502C>T c.(502-504)Ccc>Tcc p.P168S NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 168 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TTCTTAGGGGGAGGTGGTGGT 0.388000 37 89 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231112650 231112650 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:231112650G>A ENST00000392045.3 + 8 876 c.762G>A c.(760-762)atG>atA p.M254I SP140_ENST00000343805.6_Missense_Mutation_p.M228I|SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.M254I NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 254 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCAACGGGATGATAGATGCGG 0.443000 56 88 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44888545 44888545 + Silent SNP G G A rs144333328 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:44888545G>A ENST00000261866.7 - 25 4186 c.4170C>T c.(4168-4170)tcC>tcT p.S1390S SPG11_ENST00000558319.1_Silent_p.S1390S|SPG11_ENST00000535302.2_Silent_p.S1390S|SPG11_ENST00000427534.2_Silent_p.S1390S NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1390 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACTGGATAAGGGATTTCACCT 0.428000 11 24 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46682265 46682265 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46682265C>T ENST00000274793.7 - 5 598 c.402G>A c.(400-402)tgG>tgA p.W134* PLA2G7_ENST00000541026.1_Nonsense_Mutation_p.W7*|PLA2G7_ENST00000538237.1_Nonsense_Mutation_p.W89*|PLA2G7_ENST00000537365.1_Nonsense_Mutation_p.W134* NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 134 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) GAGGGGAATTCCAGTTTGCAG 0.388000 33 139 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50438877 50438877 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50438877T>C ENST00000376020.2 - 2 203 c.178A>G c.(178-180)Aat>Gat p.N60D SHROOM4_ENST00000289292.7_Missense_Mutation_p.N60D NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 60 PDZ. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCATTGATATTCACCAGCTCA 0.483000 13 9 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69651668 69651668 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:69651668C>T ENST00000435070.2 + 5 787 c.677C>T c.(676-678)cCa>cTa p.P226L CPSF6_ENST00000266679.8_Missense_Mutation_p.P226L|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 226 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCAGGAGGGCCACCCCCACCT 0.488000 21 35 0 0 1 0 0 CD8B 926 broad.mit.edu 37 2 87073875 87073875 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:87073875G>A ENST00000390655.6 - 4 573 c.515C>T c.(514-516)aCc>aTc p.T172I CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.T172I|CD8B_ENST00000331469.2_Missense_Mutation_p.T172I NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 172 immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 CAGGCCAAGGGTGATGGGGCT 0.532000 8 7 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275601 238275601 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:238275601G>A ENST00000295550.4 - 11 5681 c.5229C>T c.(5227-5229)gtC>gtT p.V1743V COL6A3_ENST00000346358.4_Silent_p.V1543V|COL6A3_ENST00000353578.4_Silent_p.V1537V|COL6A3_ENST00000472056.1_Silent_p.V1136V|COL6A3_ENST00000409809.1_Silent_p.V1537V|COL6A3_ENST00000347401.3_Silent_p.V1542V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1743 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAATCTGAGGGACCCGCTGGT 0.587000 21 33 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216692542 216692542 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216692542C>T ENST00000391890.3 - 8 1553 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K ESRRG_ENST00000487276.1_Missense_Mutation_p.E339K|ESRRG_ENST00000361525.3_Missense_Mutation_p.E339K|ESRRG_ENST00000366938.2_Missense_Mutation_p.E339K|ESRRG_ENST00000493603.1_Missense_Mutation_p.E339K|ESRRG_ENST00000366937.1_Missense_Mutation_p.E374K|ESRRG_ENST00000360012.3_Missense_Mutation_p.E339K|ESRRG_ENST00000408911.3_Missense_Mutation_p.E362K|ESRRG_ENST00000463665.1_Missense_Mutation_p.E300K|ESRRG_ENST00000361395.2_Missense_Mutation_p.E339K|ESRRG_ENST00000366940.2_Missense_Mutation_p.E339K|ESRRG_ENST00000359162.2_Missense_Mutation_p.E339K|ESRRG_ENST00000493748.1_Missense_Mutation_p.E339K NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 362 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCTTCTTTTTCCAGCTTCATG 0.358000 11 24 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284316 14284316 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:14284316G>A ENST00000310358.7 + 0 2590 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGTCATGTGGGAAAGGCCACG 0.532000 9 19 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151062948 151062948 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151062948C>T ENST00000368918.3 + 3 506 c.175C>T c.(175-177)Cga>Tga p.R59* GABPB2_ENST00000368916.1_Nonsense_Mutation_p.R59*|GABPB2_ENST00000368917.1_Nonsense_Mutation_p.R59* NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 59 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AGTACTCCTTCGAGCAGGTGT 0.507000 32 58 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37164402 37164402 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:37164402G>A ENST00000274258.7 - 37 7788 c.4201C>T c.(4201-4203)Cct>Tct p.P1401S C5orf42_ENST00000425232.2_Missense_Mutation_p.P2521S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2521S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2521 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCATCCAAAGGATGGGAACCA 0.294000 18 32 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296060 20296060 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20296060G>A ENST00000568211.1 + 1 453 c.453G>A c.(451-453)ggG>ggA p.G151G OR4N2_ENST00000315947.1_Silent_p.G151G Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGCTTGGGGGTTTTGTCC 0.532000 38 160 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844570 77844570 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:77844570G>A ENST00000216471.4 + 1 1095 c.809G>A c.(808-810)aGa>aAa p.R270K SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 270 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AAGGAACCAAGAAAGTCTAGT 0.498000 19 43 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344943 56344943 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56344943G>A ENST00000526812.2 - 1 320 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GTTCTGAGAGGAAATTGTGCA 0.433000 23 47 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475767 27475767 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:27475767G>A ENST00000356183.4 - 34 5761 c.5746C>T c.(5746-5748)Ctt>Ttt p.L1916F GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1916F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1916 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGTCTTCAAGAGCTGGGGGT 0.652000 30 83 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813782 106813782 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106813782C>T ENST00000407775.2 + 8 1722 c.1472C>T c.(1471-1473)tCt>tTt p.S491F RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S359F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S222F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S359F NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 491 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATTGGGCCTTCTTTCCCTGTG 0.443000 40 98 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229933 7229933 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7229933C>T ENST00000379938.2 + 10 2138 c.1601C>T c.(1600-1602)tCc>tTc p.S534F RREB1_ENST00000349384.6_Missense_Mutation_p.S534F|RREB1_ENST00000334984.6_Missense_Mutation_p.S534F|RREB1_ENST00000379933.3_Missense_Mutation_p.S534F NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 534 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGCAGGCTTCCCCGGGCTGT 0.672000 21 51 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40832354 40832354 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40832354G>A ENST00000582783.1 - 7 602 c.590C>T c.(589-591)cCt>cTt p.P197L C19orf47_ENST00000392035.2_Missense_Mutation_p.P130L NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 197 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCGCTTGGCAGGAACAGCCAG 0.627000 17 21 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390545 48390545 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48390545C>T ENST00000224600.4 - 1 446 c.333G>A c.(331-333)gaG>gaA p.E111E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 111 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CAAGCAGTTCCTCTTCTGAGA 0.637000 26 72 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108042083 108042083 + Missense_Mutation SNP G G A rs150290151 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:108042083G>A ENST00000369022.2 - 5 832 c.623C>T c.(622-624)tCg>tTg p.S208L SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.S237L|SCML4_ENST00000369020.3_Missense_Mutation_p.S266L|SCML4_ENST00000369025.2_Missense_Mutation_p.S24L Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GCAGTACAGCGAGGAGGAGGG 0.627000 15 9 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1029076 1029076 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:1029076G>A ENST00000421673.2 - 11 1400 c.1350C>T c.(1348-1350)tcC>tcT p.S450S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 450 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCCACCAGGGAGGTCTCGG 0.677000 6 14 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68725644 68725644 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:68725644C>T ENST00000252338.4 + 1 561 c.519C>T c.(517-519)tcC>tcT p.S173S NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 173 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 ACTCCCTTTCCCGTGCCCCGG 0.587000 19 8 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43154182 43154182 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:43154182C>T ENST00000252050.4 + 4 1324 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S CUL9_ENST00000354495.3_Missense_Mutation_p.P414S|CUL9_ENST00000372647.2_Missense_Mutation_p.P414S NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 414 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CAACGGCATTCCCCCTGTGCA 0.587000 23 87 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756232 94756232 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94756232C>T ENST00000554723.1 - 2 1237 c.819G>A c.(817-819)gtG>gtA p.V273V SERPINA10_ENST00000261994.4_Silent_p.V233V|SERPINA10_ENST00000393096.1_Silent_p.V233V|SERPINA10_ENST00000554173.1_Silent_p.V233V Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 233 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AGATGTAATCCACAAGAATTA 0.413000 17 45 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122289499 122289499 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:122289499C>T ENST00000296161.4 + 4 2322 c.2133C>T c.(2131-2133)tcC>tcT p.S711S DTX3L_ENST00000383661.3_Silent_p.S199S NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 711 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) ACAAAACATCCCGGTTTGGAG 0.423000 19 37 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113057509 113057509 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:113057509C>T ENST00000369684.4 + 2 681 c.196C>T c.(196-198)Ctg>Ttg p.L66L WNT2B_ENST00000369686.4_Silent_p.L47L|WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000478360.1_3'UTR NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 66 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATTGGGGCACTGGGGGCACG 0.567000 36 74 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36108086 36108086 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36108086C>T ENST00000203166.5 + 7 571 c.546C>T c.(544-546)ccC>ccT p.P182P HAUS5_ENST00000379045.2_Silent_p.P182P NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 182 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GCCTGGAGCCCGTGGTCCTGG 0.627000 9 38 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128306884 128306884 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:128306884G>A ENST00000368227.3 - 23 3650 c.3284C>T c.(3283-3285)cCc>cTc p.P1095L PTPRK_ENST00000368213.5_Missense_Mutation_p.P1084L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P1096L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P1110L|PTPRK_ENST00000532331.1_Missense_Mutation_p.P1100L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P1078L|PTPRK_ENST00000368215.3_Missense_Mutation_p.P1077L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1077 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TACAACGATGGGGCCAGCACT 0.483000 27 19 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370100 56370100 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56370100C>T ENST00000301295.6 + 3 1763 c.1341C>T c.(1339-1341)tcC>tcT p.S447S NLRP4_ENST00000346986.5_Silent_p.S447S|NLRP4_ENST00000587891.1_Silent_p.S372S NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 447 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTGAGAGCTCCTACGTGTTCC 0.537000 39 66 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51644837 51644837 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:51644837C>T ENST00000375695.2 + 13 2469 c.2316C>T c.(2314-2316)acC>acT p.T772T MAGED1_ENST00000375772.3_Silent_p.T716T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.T716T|MAGED1_ENST00000375722.1_Silent_p.T716T NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 716 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) AGCTGCTGACCTGGGATGAGG 0.557000 Multiple Myeloma(10;0.10) 21 8 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721238 160721238 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160721238C>T ENST00000274547.2 - 11 1606 c.1389G>A c.(1387-1389)aaG>aaA p.K463K GABRB2_ENST00000517901.1_Silent_p.K362K|GABRB2_ENST00000520240.1_Silent_p.K425K|GABRB2_ENST00000353437.6_Silent_p.K425K|GABRB2_ENST00000393959.1_Silent_p.K463K|GABRB2_ENST00000517547.1_Silent_p.K265K NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 463 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCGACTTTTCTTTTGCGCCA 0.522000 14 21 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699264 17699264 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:17699264C>T ENST00000399080.2 - 1 442 c.419G>A c.(418-420)aGa>aAa p.R140K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 140 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAAAGCCTCTCTGTCATGCAG 0.483000 18 38 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128782030 128782030 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:128782030G>A ENST00000529694.1 + 2 1238 c.862G>A c.(862-864)Gag>Aag p.E288K KCNJ5_ENST00000338350.4_Missense_Mutation_p.E288K|KCNJ5_ENST00000533599.1_Missense_Mutation_p.E288K NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 288 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCCTTTCTGGGAGATGTCTCA 0.537000 46 50 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24452754 24452754 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24452754G>A ENST00000398319.2 + 10 1578 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q CABIN1_ENST00000405822.2_Missense_Mutation_p.R348Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R398Q NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 398 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCCCGTGTCCGAAACACCAAG 0.448000 40 136 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54798505 54798505 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:54798505C>T ENST00000293379.4 - 13 1660 c.1399G>A c.(1399-1401)Gat>Aat p.D467N RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 467 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCATTGCCATCCAGGTCTCGG 0.572000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 51 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70530586 70530586 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70530586G>A ENST00000357887.3 - 3 2598 c.1845C>T c.(1843-1845)ttC>ttT p.F615F SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000528359.1_Silent_p.F615F|SLC8A3_ENST00000381269.2_Intron NM_033262.3 NP_150287.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 615 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCATCTCAATGAAGTAATTCT 0.398000 36 52 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875172 247875172 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247875172C>T ENST00000302084.2 - 1 933 c.886G>A c.(886-888)Gaa>Aaa p.E296K RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E296K(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTCTTACTTCCTTATTACGA 0.428000 48 85 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112062 59112062 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:59112062T>C ENST00000335867.4 + 4 745 c.721T>C c.(721-723)Ttt>Ctt p.F241L DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 241 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CACACCACAATTTAATTCCCT 0.443000 31 52 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482354 76482354 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76482354G>A ENST00000389840.5 - 45 7135 c.7011C>T c.(7009-7011)ttC>ttT p.F2337F DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.F2346F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGTGAACACGAAGTACAGCT 0.627000 5 19 0 0 1 0 0 CCDC59 29080 broad.mit.edu 37 12 82750862 82750862 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:82750862G>A ENST00000256151.7 - 2 752 c.341C>T c.(340-342)cCt>cTt p.P114L CCDC59_ENST00000548126.1_5'UTR NM_014167.4 NP_054886.2 Q9P031 TAP26_HUMAN coiled-coil domain containing 59 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2) 5 TTCTGACAAAGGATGGTCGAC 0.428000 44 88 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655875 12655875 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12655875C>T ENST00000425538.1 + 10 1470 c.1270C>T c.(1270-1272)Cct>Tct p.P424S MYOCD_ENST00000343344.4_Missense_Mutation_p.P424S|MYOCD_ENST00000395988.1_Missense_Mutation_p.P328S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 424 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGTCACTTTTCCTGTCACACC 0.572000 41 72 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049412 70049412 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70049412C>T ENST00000330891.5 - 10 1508 c.1282G>A c.(1282-1284)Gac>Aac p.D428N BEST3_ENST00000553096.1_Missense_Mutation_p.D322N|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.D215N NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 428 chloride channel complex|plasma membrane chloride channel activity p.D428N(1)|p.D215N(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGCTGAGGTCATCTCGGGGT 0.592000 31 45 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643314 156643314 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:156643314G>A ENST00000296518.7 + 9 2050 c.1841G>A c.(1840-1842)cGa>cAa p.R614Q GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R356Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R614Q Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 614 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGTGTACCACGAAAAATCAAT 0.378000 34 49 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620533 46620533 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:46620533G>T ENST00000330070.4 - 2 2135 c.968C>A c.(967-969)tCc>tAc p.S323Y NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 323 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S323C(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TAGGCTAGGGGAGAGGCCTCC 0.582000 26 54 5.52252e-06 5.54886e-06 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168101260 168101260 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168101260C>T ENST00000409195.1 + 9 3447 c.3358C>T c.(3358-3360)Cat>Tat p.H1120Y XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H898Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1120Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 945 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAAGAAATTCATAAGGGAGA 0.378000 10 18 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86808051 86808051 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:86808051G>A ENST00000441037.2 + 10 1606 c.1511G>A c.(1510-1512)cGa>cAa p.R504Q AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 504 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTTGGAACGAAAATGTGGA 0.443000 14 35 0 0 1 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107240 120107240 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:120107240C>T ENST00000307128.5 + 6 893 c.680C>T c.(679-681)tCt>tTt p.S227F NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 227 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 AATCCCCTTTCTGGCAGACGG 0.388000 27 52 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39607459 39607459 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39607459C>T ENST00000287152.7 - 4 420 c.326G>A c.(325-327)gGg>gAg p.G109E KIF6_ENST00000538893.1_Missense_Mutation_p.G109E|KIF6_ENST00000373216.3_Missense_Mutation_p.G109E|KIF6_ENST00000373215.3_Missense_Mutation_p.G109E NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 109 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTCTGCACCCCCTGTGATAGT 0.423000 31 139 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723778 142723778 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142723778C>T ENST00000350513.2 - 1 504 c.442G>A c.(442-444)Gga>Aga p.G148R NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GAAAGAAATCCAAACACCCAT 0.428000 30 100 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266481 65266481 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65266481C>T ENST00000534336.1 + 0 1249 NR_002819.2 GAGTTGTTCTCCGTCTATAAA 0.537000 49 117 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209778994 209778994 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209778994A>T ENST00000009105.1 + 5 655 c.410A>T c.(409-411)aAt>aTt p.N137I CAMK1G_ENST00000361322.2_Missense_Mutation_p.N137I Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 137 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTACATGAGAATGGCATCGTC 0.522000 39 46 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30064458 30064458 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:30064458C>T ENST00000201979.2 + 2 503 c.210C>T c.(208-210)tcC>tcT p.S70S DEFB124_ENST00000481595.1_5'UTR NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 70 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTTCTGAATCCAGCGACTCTG 0.592000 16 43 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388939 160388939 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160388939A>T ENST00000368061.2 + 4 814 c.340A>T c.(340-342)Acc>Tcc p.T114S NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 114 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCGGGGGCCACCCTGGCACT 0.667000 27 47 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077203 41077203 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41077203T>A ENST00000249016.4 + 2 1236 c.540T>A c.(538-540)ttT>ttA p.F180L MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 180 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 TGTGGCACTTTGGGGAGACCA 0.557000 47 134 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463416 26463416 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26463416A>G ENST00000265944.5 + 30 4389 c.4223A>G c.(4222-4224)aAg>aGg p.K1408R MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1408 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AACATCAAGAAGAAGGATAAC 0.328000 29 59 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17444633 17444633 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:17444633C>T ENST00000400588.1 - 9 1670 c.1563G>A c.(1561-1563)ctG>ctA p.L521L NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 521 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGGAAGTCCAGGGCCGCGT 0.657000 5 34 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140729876 140729876 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140729876C>T ENST00000523390.1 + 1 49 c.49C>T c.(49-51)Ccc>Tcc p.P17S PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTACTGTTTCCCTTCCTGCT 0.512000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 20 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38525521 38525521 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:38525521C>A ENST00000332509.3 - 8 1309 c.1126G>T c.(1126-1128)Gtg>Ttg p.V376L PLA2G6_ENST00000335539.3_Missense_Mutation_p.V376L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V376L NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 376 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GGGGTGTCCACTTCTGCTCCG 0.542000 64 48 6.47592e-44 6.6077e-44 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58016672 58016672 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:58016672C>T ENST00000379218.2 + 6 1205 c.894C>T c.(892-894)gcC>gcT p.A298A SLC26A10_ENST00000320442.4_Silent_p.A298A Q8NG04 S2610_HUMAN solute carrier family 26, member 10 298 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CCTCCCTGGCCTCCATCCATG 0.562000 21 36 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7374083 7374083 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7374083G>A ENST00000502583.1 - 5 1533 c.969C>T c.(967-969)atC>atT p.I323I CAGE1_ENST00000512086.1_Silent_p.I323I|CAGE1_ENST00000296742.7_Silent_p.I187I|CAGE1_ENST00000338150.4_Silent_p.I323I|CAGE1_ENST00000379918.4_Silent_p.I323I NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 323 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GGAGTTCTTGGATTCGCACTT 0.378000 7 36 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135641 51135641 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51135641C>T ENST00000338916.4 - 2 1209 c.576G>A c.(574-576)ggG>ggA p.G192G SYT3_ENST00000600079.1_Silent_p.G192G|SYT3_ENST00000593901.1_Silent_p.G192G|SYT3_ENST00000544769.1_Silent_p.G192G NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 192 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) AGCCTGCTCCCCCCTCAGAGG 0.642000 11 28 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100080766 100080766 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:100080766T>C ENST00000375202.2 + 24 2465 c.1113T>C c.(1111-1113)agT>agC p.S371S RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S371S|CCDC180_ENST00000411667.2_Silent_p.S368S|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Silent_p.S510S coiled-coil domain containing 180 CCAGTGAGAGTATCCATACTC 0.562000 14 12 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138662931 138662931 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138662931C>T ENST00000298480.5 + 18 2072 c.1998C>T c.(1996-1998)atC>atT p.I666I KCNT1_ENST00000263604.3_Silent_p.I647I|KCNT1_ENST00000491806.2_Silent_p.I633I|KCNT1_ENST00000490355.2_Silent_p.I647I|KCNT1_ENST00000488444.2_Silent_p.I647I|KCNT1_ENST00000487664.1_Silent_p.I621I|KCNT1_ENST00000371757.2_Silent_p.I666I|KCNT1_ENST00000486577.2_Silent_p.I627I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 666 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACAGCATCATCGCCTCCATGG 0.697000 4 7 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40468954 40468954 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40468954G>A ENST00000301825.3 + 11 1663 c.1545G>A c.(1543-1545)aaG>aaA p.K515K ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.K515K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 515 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CCAGAAGAAAGAGGCACTCCG 0.537000 8 42 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40946898 40946898 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:40946898G>A ENST00000295974.8 - 7 1654 c.1025C>T c.(1024-1026)cCc>cTc p.P342L APBB2_ENST00000513140.1_Missense_Mutation_p.P342L|APBB2_ENST00000508593.1_Missense_Mutation_p.P343L|APBB2_ENST00000506352.1_Missense_Mutation_p.P342L NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 342 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTCTGGGGTGGGAGATGGCGT 0.498000 31 50 0 0 1 0 0 THAP3 90326 broad.mit.edu 37 1 6688564 6688564 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:6688564C>T ENST00000377627.3 + 2 107 c.80C>T c.(79-81)cCg>cTg p.P27L THAP3_ENST00000307896.6_Missense_Mutation_p.P27L|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000484676.1_3'UTR NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing, apoptosis associated protein 3 27 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CTTAGGTTTCCGTTCAGCCGC 0.597000 8 15 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74395863 74395863 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:74395863G>A ENST00000319380.7 - 9 1359 c.1295C>T c.(1294-1296)cCt>cTt p.P432L NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 432 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CGTCTCCTCAGGGCTGGCAGA 0.617000 34 44 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355570 21355570 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:21355570C>T ENST00000256958.2 + 10 1377 c.1281C>T c.(1279-1281)ttC>ttT p.F427F NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 427 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TATATTTTTTCATACTCTGTG 0.308000 16 29 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105193708 105193708 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:105193708G>A ENST00000428173.2 + 27 4801 c.4498G>A c.(4498-4500)Gac>Aac p.D1500N NRK_ENST00000540278.1_Missense_Mutation_p.D80N|NRK_ENST00000243300.9_Missense_Mutation_p.D1499N Q7Z2Y5 NRK_HUMAN Nik related kinase 1499 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AATGTGGAAAGACATACCATC 0.383000 HNSCC(51;0.14) 10 2 0 0 1 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029198 41029198 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:41029198G>A ENST00000244669.2 + 2 307 c.263G>A c.(262-264)gGa>gAa p.G88E NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 88 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GCATCTCGGGGATACCTAGAG 0.577000 85 58 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256671 186256671 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:186256671G>A ENST00000392499.2 - 4 690 c.351C>T c.(349-351)tcC>tcT p.S117S CRYGS_ENST00000307944.5_Silent_p.S117S NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 117 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GCTCCATGATGGAAGGGCAAT 0.478000 20 26 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48214139 48214139 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:48214139C>T ENST00000298396.2 - 3 164 c.112G>A c.(112-114)Gaa>Aaa p.E38K SSX3_ENST00000376893.3_Missense_Mutation_p.E38K NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 38 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 TTCATCTTTTCCCACTCTTCC 0.393000 28 3 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74415665 74415665 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:74415665C>T ENST00000376332.3 - 7 1113 c.617G>A c.(616-618)gGg>gAg p.G206E CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.G206E NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 206 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) TCTCTTTCTCCCAGCATCACT 0.597000 16 11 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10600186 10600186 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:10600186G>A ENST00000544822.1 - 7 922 c.535C>T c.(535-537)Cgt>Tgt p.R179C KLRC1_ENST00000536188.1_Missense_Mutation_p.R179C|KLRC1_ENST00000408006.3_Missense_Mutation_p.R161C|KLRC1_ENST00000347831.5_Missense_Mutation_p.R161C|KLRC1_ENST00000359151.3_Missense_Mutation_p.R179C NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 179 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 CTGCTGTTACGAAACACACCA 0.308000 30 61 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784092 151784092 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:151784092C>T ENST00000255262.3 - 1 748 c.583G>A c.(583-585)Ggg>Agg p.G195R NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 195 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ACCAGGGACCCATTGGGGAAG 0.577000 5 162 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25477463 25477463 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:25477463C>T ENST00000453082.2 + 0 1685 NR_003343.1 ACCCTGGTCTCCTGCACTGAG 0.567000 20 40 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47608985 47608985 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47608985C>T ENST00000371891.3 + 5 586 c.555C>T c.(553-555)gtC>gtT p.V185V CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.V185V|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.V185V NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 185 V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15). endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding p.V185V(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTGGAGGTCTTTCAGCACG 0.542000 14 27 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6588623 6588623 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:6588623G>A ENST00000321612.6 - 13 1810 c.1660C>T c.(1660-1662)Cca>Tca p.P554S NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 554 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ACTACCAGTGGAATCATGCTG 0.428000 14 27 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471506 4471506 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4471506G>A ENST00000325719.4 + 1 982 c.937G>A c.(937-939)Gat>Aat p.D313N NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCAAGAAAGGATATGTAGAG 0.478000 12 12 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13894920 13894920 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13894920G>A ENST00000265104.4 - 16 2374 c.2270C>T c.(2269-2271)gCt>gTt p.A757V CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 757 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGATATTCAGCTAGCATCAT 0.378000 Kartagener syndrome 62 93 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39814835 39814835 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:39814835C>T ENST00000216160.6 + 6 711 c.649C>T c.(649-651)Cgt>Tgt p.R217C TAB1_ENST00000331454.3_Missense_Mutation_p.R217C NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 217 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 TGAGCTCTTCCGTCTTTCGCA 0.577000 25 93 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87623858 87623858 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:87623858C>T ENST00000320005.5 - 14 1667 c.1620G>A c.(1618-1620)ttG>ttA p.L540L NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 540 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GAACGGATTTCAATCTTAGCA 0.328000 95 30 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205022330 205022330 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:205022330G>A ENST00000331830.4 + 2 301 c.17G>A c.(16-18)aGg>aAg p.R6K NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 6 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACAGCCACCAGGAGGAAGCCA 0.597000 33 87 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14627259 14627259 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:14627259G>A ENST00000218075.4 + 7 1392 c.862G>A c.(862-864)Gca>Aca p.A288T GLRA2_ENST00000443437.2_Missense_Mutation_p.A199T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A288T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 288 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.A288T(1)|p.A288S(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGCCAGGGTCGCACTGGGCAT 0.468000 10 60 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182451 57182451 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:57182451C>T ENST00000504228.1 + 6 2888 c.2783C>T c.(2782-2784)tCt>tTt p.S928F KIAA1211_ENST00000264229.6_Missense_Mutation_p.S928F|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S921F Q6ZU35 K1211_HUMAN KIAA1211 928 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGCAGCCGCTCTGTTCCTGTG 0.647000 11 18 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 4 49 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54860025 54860025 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54860025C>T ENST00000545554.1 + 29 5986 c.5986C>T c.(5986-5988)Ctg>Ttg p.L1996L UNC13C_ENST00000537900.1_Silent_p.L1994L|UNC13C_ENST00000260323.11_Silent_p.L1996L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1996 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAAATGGCCTGAAAAAGAA 0.353000 3 9 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78944663 78944663 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:78944663G>A ENST00000286627.5 - 4 1566 c.614C>T c.(613-615)tCc>tTc p.S205F KCNMA1_ENST00000354353.5_Missense_Mutation_p.S205F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S205F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S205F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S205F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S205F NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 205 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) ATTCTGGCAGGATTCTATTGG 0.428000 28 60 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585365 7585365 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7585365G>A ENST00000379802.3 + 24 8211 c.7870G>A c.(7870-7872)Gac>Aac p.D2624N DSP_ENST00000418664.2_Missense_Mutation_p.D2025N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2624 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCCATCTTTGACACAGAAAA 0.493000 54 78 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166963269 166963269 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:166963269G>A ENST00000061240.2 + 11 1999 c.1352G>A c.(1351-1353)gGa>gAa p.G451E TLL1_ENST00000507499.1_Missense_Mutation_p.G451E NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 451 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AATTGGGTAGGAAAAGGCTTT 0.368000 31 57 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424891 125424891 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125424891T>C ENST00000373686.1 + 1 1047 c.1047T>C c.(1045-1047)ggT>ggC p.G349G Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 349 G -> R (in dbSNP:rs16912062). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TGAAGCAGGGTTTGGCAAAGT 0.388000 22 51 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55581809 55581809 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:55581809C>T ENST00000361849.3 - 34 6077 c.5683G>A c.(5683-5685)Gaa>Aaa p.E1895K PCDH15_ENST00000395432.2_Missense_Mutation_p.E1853K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1870K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E747K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1890K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1893K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1824K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1893 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTGATTTTTCAAGTTCTGCT 0.373000 HNSCC(58;0.16) 42 71 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85769328 85769328 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:85769328G>A ENST00000373131.1 + 2 698 c.535G>A c.(535-537)Gaa>Aaa p.E179K DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.E25K|DACH2_ENST00000373125.4_Missense_Mutation_p.E192K NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AGTGTTGCAGGAAAATGCCCG 0.458000 17 6 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708421 37708421 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:37708421C>T ENST00000539465.1 + 4 878 c.285C>T c.(283-285)ttC>ttT p.F95F FRMPD1_ENST00000377765.3_Silent_p.F95F|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 95 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GCAAGCTTTTCCCTGGTGATC 0.483000 36 55 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119729088 119729088 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:119729088C>T ENST00000541757.1 + 5 584 c.204C>T c.(202-204)atC>atT p.I68I MARCO_ENST00000327097.4_Silent_p.I146I Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 146 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 TGTTCAGAATCAAAGGTGAAC 0.582000 33 71 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905487 905487 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:905487C>T ENST00000579794.1 + 1 378 c.100C>T c.(100-102)Ccc>Tcc p.P34S RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.P34S NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 34 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ACTCCGGTTCCCCGGGATCAG 0.632000 9 33 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260934 30260934 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:30260934G>A ENST00000378982.2 + 1 878 c.682G>A c.(682-684)Ggg>Agg p.G228R NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 228 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GAATATGCTGGGGATCTATGA 0.478000 15 7 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010101 161010101 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:161010101G>A ENST00000368021.3 - 10 938 c.734C>T c.(733-735)tCc>tTc p.S245F USF1_ENST00000435396.1_Missense_Mutation_p.S186F|USF1_ENST00000368019.1_Missense_Mutation_p.S217F|USF1_ENST00000368020.1_Missense_Mutation_p.S245F NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 245 Helix-loop-helix motif. cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACAAGCTTTGGATAGAATCCC 0.453000 28 54 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115343993 115343993 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:115343993C>T ENST00000351270.3 + 11 1420 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S HABP2_ENST00000542051.1_Missense_Mutation_p.P416S NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 442 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TGGGTCCTTTCCCTCTGGGAG 0.512000 14 37 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188340 57188340 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:57188340C>T ENST00000331162.4 - 5 1052 c.782G>A c.(781-783)aGa>aAa p.R261K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAGTTCTCTTATGTCT 0.423000 16 33 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223386 44223386 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:44223386C>T ENST00000244314.5 + 2 875 c.676C>T c.(676-678)Ccc>Tcc p.P226S NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 226 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTACGACTTTCCCACGCTGGT 0.687000 5 14 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887441 3887441 + Silent SNP C C T rs144871484 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:3887441C>T ENST00000319331.3 + 2 1877 c.1116C>T c.(1114-1116)ccC>ccT p.P372P SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 372 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATAGCAATCCCCTCAGGTGTG 0.483000 28 64 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58325019 58325019 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58325019G>A ENST00000219301.4 - 4 501 c.107C>T c.(106-108)tCc>tTc p.S36F PRSS54_ENST00000567164.1_Missense_Mutation_p.S36F|PRSS54_ENST00000543437.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 36 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTAGAAAACGGAAGCTTTCTG 0.622000 9 28 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576999 158576999 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158576999C>T ENST00000361284.1 + 1 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 257 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) GTGCTTCCTTCGTGTACCTGA 0.493000 53 118 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307210 54307210 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54307210G>A ENST00000545554.1 + 1 2110 c.2110G>A c.(2110-2112)Gat>Aat p.D704N UNC13C_ENST00000537900.1_Missense_Mutation_p.D704N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D704N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 704 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTGCCACAGTGATCTTCAAGA 0.428000 6 7 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100126624 100126624 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:100126624C>T ENST00000524871.1 + 17 2428 c.2138C>T c.(2137-2139)tCc>tTc p.S713F CNTN5_ENST00000528682.1_Missense_Mutation_p.S713F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.S713F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S713F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S639F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 713 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGCCCATTTTCCCTGGGCTGG 0.493000 21 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179658154 179658154 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179658154G>C ENST00000589042.1 - 9 1737 c.1513C>G c.(1513-1515)Cag>Gag p.Q505E TTN_ENST00000460472.2_Missense_Mutation_p.Q505E|TTN_ENST00000360870.5_Missense_Mutation_p.Q505E|TTN_ENST00000591111.1_Missense_Mutation_p.Q505E|TTN_ENST00000342992.6_Missense_Mutation_p.Q505E|TTN_ENST00000342175.6_Missense_Mutation_p.Q505E|TTN_ENST00000359218.5_Missense_Mutation_p.Q505E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 505 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) ACGTGCATCTGCTCTTGCTTT 0.403000 5 145 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284787 223284787 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:223284787C>T ENST00000540964.1 - 4 2048 c.1587G>A c.(1585-1587)agG>agA p.R529R TLR5_ENST00000342210.6_Silent_p.R529R O60602 TLR5_HUMAN toll-like receptor 5 529 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GGCTTAGTCCCCTTAATGCAG 0.413000 37 65 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17487808 17487808 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17487808G>A ENST00000252590.4 - 1 351 c.290C>T c.(289-291)gCc>gTc p.A97V NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 97 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGCATGATGGCATCCTTGGC 0.632000 25 44 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4557933 4557933 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4557933G>A ENST00000570646.1 + 4 1029 c.424G>A c.(424-426)Ggg>Agg p.G142R HMOX2_ENST00000219700.6_Missense_Mutation_p.G142R|HMOX2_ENST00000406590.2_Missense_Mutation_p.G142R|HMOX2_ENST00000575120.1_Missense_Mutation_p.G113R|HMOX2_ENST00000398595.3_Missense_Mutation_p.G142R|HMOX2_ENST00000414777.1_Missense_Mutation_p.G142R|HMOX2_ENST00000458134.3_Missense_Mutation_p.G142R NM_002134.3 NP_002125.3 P30519 HMOX2_HUMAN heme oxygenase (decycling) 2 142 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCACTACATAGGGCAGAACGA 0.597000 23 28 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916477 28916477 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28916477C>T ENST00000257192.4 + 9 1378 c.1166C>T c.(1165-1167)tCa>tTa p.S389L NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 389 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CGTCCAGGTTCAAAGACATAT 0.383000 20 45 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43005579 43005579 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:43005579G>A ENST00000587309.1 - 13 2150 c.2127C>T c.(2125-2127)agC>agT p.S709S KIF18B_ENST00000590129.1_Silent_p.S718S|KIF18B_ENST00000438933.2_Silent_p.S709S|KIF18B_ENST00000339151.4_Silent_p.S700S|KIF18B_ENST00000593135.1_Silent_p.S697S NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GGGGCACCCGGCTTTTGATGA 0.637000 10 10 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755762 140755762 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140755762C>T ENST00000517434.1 + 1 2112 c.2112C>T c.(2110-2112)ttC>ttT p.F704F PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCGTCTTCCTGGCCTTCG 0.667000 23 57 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9013826 9013826 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:9013826C>T ENST00000299698.7 + 28 3615 c.3435C>T c.(3433-3435)tcC>tcT p.S1145S A2ML1_ENST00000539547.1_Silent_p.S654S NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 989 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ACATTTTCTCCCTGGCTGGGG 0.468000 45 93 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261648 39261648 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39261648G>A ENST00000391415.1 + 1 65 c.8G>A c.(7-9)aGc>aAc p.S3N NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 3 keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ACCATGGTCAGCTCCTGTTGT 0.592000 18 17 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45560424 45560424 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:45560424C>T ENST00000347644.3 + 13 1281 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 406 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GAGGAATGTCCTGGAAGCTGC 0.527000 25 46 0 0 1 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343323 69343323 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69343323G>A ENST00000305363.4 + 8 1008 c.944G>A c.(943-945)gGa>gAa p.G315E NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 315 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TTTGTGACAGGATTTGGAGCA 0.403000 122 239 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349983 79349983 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:79349983G>A ENST00000233735.1 + 5 441 c.338G>A c.(337-339)tGg>tAg p.W113* NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 113 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CGCTGGCACTGGAGCAGTGGG 0.557000 33 84 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62567222 62567222 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:62567222T>A ENST00000430451.2 + 6 1932 c.1735T>A c.(1735-1737)Ttc>Atc p.F579I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 579 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GACCTTTGTTTTCCAGGTGGC 0.473000 9 19 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45381731 45381731 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45381731G>A ENST00000252485.4 + 6 1645 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 491 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGTCCCATGGAACCAGATGG 0.587000 10 6 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519770 29519770 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29519770G>A ENST00000389048.3 - 9 2707 c.1801C>T c.(1801-1803)Ctc>Ttc p.L601F ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 601 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GACACATCGAGGAGAGGCAAC 0.532000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 33 0 0 1 0 0 PSMC4 5704 broad.mit.edu 37 19 40478366 40478366 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40478366C>T ENST00000157812.2 + 3 424 c.226C>T c.(226-228)Cag>Tag p.Q76* PSMC4_ENST00000455878.2_Intron NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCTCCATGCCCAGGAGGAGGT 0.517000 13 21 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 20 49 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713475 183713475 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:183713475G>A ENST00000511685.1 + 26 5773 c.5650G>A c.(5650-5652)Gat>Aat p.D1884N TENM3_ENST00000406950.2_Missense_Mutation_p.D1884N teneurin transmembrane protein 3 CTTCGAATACGATATGTGGGA 0.502000 29 51 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109049539 109049539 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:109049539G>A ENST00000335658.6 - 5 565 c.511C>T c.(511-513)Cct>Tct p.P171S DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 171 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCCACAGGAGGAAGAGCCACT 0.507000 18 45 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101960915 101960915 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:101960915G>A ENST00000536178.1 + 9 1675 c.1630G>A c.(1630-1632)Ggc>Agc p.G544S SH2B2_ENST00000306803.8_Missense_Mutation_p.G504S O14492 SH2B2_HUMAN SH2B adaptor protein 2 505 blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 GGAGTCAGGGGGCTCGGCCGA 0.612000 26 39 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120219473 120219473 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:120219473G>A ENST00000019103.5 - 7 1007 c.740C>T c.(739-741)tCc>tTc p.S247F NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 247 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGAGAAGAAGGAGATGGCGAG 0.537000 27 54 0 0 1 0 0 TRMT10A 93587 broad.mit.edu 37 4 100475086 100475086 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100475086G>A ENST00000273962.3 - 6 813 c.501C>T c.(499-501)atC>atT p.I167I TRMT10A_ENST00000394877.3_Silent_p.I167I|TRMT10A_ENST00000394876.2_Silent_p.I167I NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) GTTTGATATGGATATCCTTTA 0.323000 17 38 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 138 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970854 151970854 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:151970854G>A ENST00000355193.2 - 7 1166 c.948C>T c.(946-948)acC>acT p.T316T KMT2C_ENST00000262189.6_Silent_p.T316T lysine (K)-specific methyltransferase 2C AATCCTGAAAGGTGCCGGCTC 0.433000 7 258 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35919229 35919229 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:35919229C>T ENST00000490799.1 - 18 2633 c.2280G>A c.(2278-2280)ggG>ggA p.G760G SLC26A8_ENST00000355574.2_Silent_p.G760G|SLC26A8_ENST00000394602.2_Silent_p.G655G NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 760 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CACAGTGACACCCTGCAATGA 0.468000 30 120 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170952613 170952613 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:170952613C>T ENST00000367759.4 + 9 821 c.667C>T c.(667-669)Cct>Tct p.P223S MROH9_ENST00000367758.3_Missense_Mutation_p.P223S NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CCTCCAGTTTCCTTCTTCTGA 0.373000 9 19 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345511 28345511 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28345511C>T ENST00000337532.5 - 17 1725 c.1449G>A c.(1447-1449)gtG>gtA p.V483V MPP7_ENST00000540098.1_Silent_p.V483V|MPP7_ENST00000375719.3_Silent_p.V483V|MPP7_ENST00000375732.1_Silent_p.V483V NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 483 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTATAAATATCACATAGGGCT 0.353000 22 44 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692121 106692121 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106692121C>T ENST00000390607.2 - 0 82 AGCCCCAGTTCCATGGTGAAT 0.502000 40 100 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34094839 34094839 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:34094839G>A ENST00000297161.2 + 10 1225 c.851G>A c.(850-852)gGc>gAc p.G284D BMPER_ENST00000426693.1_Missense_Mutation_p.G284D NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 284 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGCCAGGAGGGCTGTTGTGAA 0.493000 37 56 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117050993 117050993 + Silent SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:117050993T>G ENST00000356083.3 + 43 4447 c.4056T>G c.(4054-4056)ggT>ggG p.G1352G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1352 Collagen-like 12.|Pro-rich.|Triple-helical region. 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 GCCCTGTGGGTGATCGAGGAG 0.622000 8 11 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103143606 103143606 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:103143606G>A ENST00000424685.2 - 52 8505 c.8346C>T c.(8344-8346)ttC>ttT p.F2782F RELN_ENST00000428762.1_Silent_p.F2782F|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.F2782F P78509 RELN_HUMAN reelin 2782 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.F2782L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACTCACACCGAAGTCAGTAG 0.408000 42 56 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137219247 137219247 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:137219247G>A ENST00000239926.4 + 7 1365 c.991G>A c.(991-993)Gaa>Aaa p.E331K MYOT_ENST00000515645.1_Missense_Mutation_p.E216K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.E147K NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 331 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAGAGCAGGAGAAGCCACCTT 0.423000 10 35 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136898795 136898795 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:136898795A>T ENST00000303407.7 - 12 2283 c.2098T>A c.(2098-2100)Tcc>Acc p.S700T BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 700 Ser-rich. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTGAGCCTGGACGGGCCCCCT 0.642000 T C15orf55 lethal midline carcinoma of young people 6 4 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383917 85383917 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:85383917C>T ENST00000258888.5 + 5 2180 c.2013C>T c.(2011-2013)tcC>tcT p.S671S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 671 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACACACTCCTTGACCCCCC 0.627000 14 34 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38935245 38935245 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:38935245G>A ENST00000355481.4 + 7 690 c.559G>A c.(559-561)Gag>Aag p.E187K RYR1_ENST00000360985.3_Missense_Mutation_p.E187K|RYR1_ENST00000359596.3_Missense_Mutation_p.E187K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 187 MIR 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E187K(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGCCAGTGGGGAGCTCCAGGT 0.617000 11 15 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009551 105009551 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:105009551C>T ENST00000530950.1 - 2 261 c.262G>A c.(262-264)Ggt>Agt p.G88S CARD18_ENST00000532895.1_Missense_Mutation_p.G49S|CARD18_ENST00000526823.1_Missense_Mutation_p.G49S NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 88 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 TAGTGCAAACCCATCTTTGAG 0.403000 46 144 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31597595 31597595 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:31597595C>T ENST00000326132.5 + 6 634 c.475C>T c.(475-477)Cct>Tct p.P159S RNF185_ENST00000266252.7_Missense_Mutation_p.P103S|RNF185_ENST00000426256.2_Missense_Mutation_p.P97S NM_152267.3 NP_689480.2 Q96GF1 RN185_HUMAN ring finger protein 185 159 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TGGGCGGCCTCCTCCAGGTAA 0.388000 18 68 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114189206 114189206 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:114189206C>T ENST00000369615.1 + 12 2159 c.2097C>T c.(2095-2097)tcC>tcT p.S699S MAGI3_ENST00000369617.4_Silent_p.S724S|MAGI3_ENST00000307546.9_Silent_p.S699S|MAGI3_ENST00000369611.4_Silent_p.S699S NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 724 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTCAGGATCCCCAAAATTGG 0.388000 30 40 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131922026 131922026 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:131922026C>T ENST00000286355.5 - 6 3660 c.1568G>A c.(1567-1569)aGg>aAg p.R523K ADCY8_ENST00000377928.3_Missense_Mutation_p.R523K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 523 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTGCCACTTCCTTAGTCCCAA 0.478000 HNSCC(32;0.087) 156 53 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326096 63326096 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63326096G>A ENST00000255695.1 - 3 213 c.155C>T c.(154-156)tCt>tTt p.S52F NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 52 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 GGTCAGGGCAGACAGGACACT 0.557000 41 92 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884682 23884682 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23884682C>T ENST00000355349.3 - 36 5353 c.5191G>A c.(5191-5193)Gat>Aat p.D1731N CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1731 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGTCAGCATCCATCTTCTTC 0.542000 17 44 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117868435 117868435 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:117868435C>G ENST00000297338.2 - 8 1194 c.907G>C c.(907-909)Gca>Cca p.A303P NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 303 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AATGCAAATGCTTCTTCCTCA 0.403000 11 217 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176992616 176992616 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:176992616G>A ENST00000367654.2 - 7 1375 c.1362C>T c.(1360-1362)tcC>tcT p.S454S ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.S454S|ASTN1_ENST00000361833.2_Silent_p.S454S|ASTN1_ENST00000367657.3_Silent_p.S454S O14525 ASTN1_HUMAN astrotactin 1 454 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGGTCCGCTGGAGTTCTGCT 0.647000 7 12 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153120 5153120 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5153120G>A ENST00000307388.1 - 1 752 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, 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(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAACTGTAGGAAGACACAAA 0.418000 25 44 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320308 90320308 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90320308C>T ENST00000341735.3 + 1 720 c.720C>T c.(718-720)gtC>gtT p.V240V MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 240 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GGAGGGGGGTCCACGACACGG 0.711000 6 5 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25266545 25266545 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:25266545G>A ENST00000328086.7 - 2 1371 c.568C>T c.(568-570)Cgg>Tgg p.R190W NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGTAAGGGCCGACGTTCTCGC 0.602000 25 46 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244064 46244064 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46244064C>T ENST00000334344.6 + 15 2330 c.2158C>T c.(2158-2160)Cag>Tag p.Q720* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q571*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q330* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 720 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACAGTTATCCAGAATTCCAT 0.448000 """N, S, F""" hepatocellular carcinoma 35 72 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965716 123965716 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:123965716C>T ENST00000314393.4 + 3 2801 c.1966C>T c.(1966-1968)Cag>Tag p.Q656* NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 656 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCCTACTCCCCAGGAGTACGA 0.527000 21 69 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39554141 39554141 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39554141G>A ENST00000287152.7 - 8 980 c.886C>T c.(886-888)Cct>Tct p.P296S KIF6_ENST00000373213.4_Missense_Mutation_p.P135S|KIF6_ENST00000538893.1_Missense_Mutation_p.P296S|KIF6_ENST00000373216.3_Missense_Mutation_p.P296S|KIF6_ENST00000373215.3_Missense_Mutation_p.P296S NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 296 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTCTATAAGGAATGTGCGAA 0.408000 88 59 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861129 55861129 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55861129G>A ENST00000302124.2 + 1 377 c.346G>A c.(346-348)Gga>Aga p.G116R OR8I2_ENST00000560768.1_Missense_Mutation_p.G116R Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTTCCTTCTGGGATCAATGGC 0.428000 43 71 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101933603 101933603 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101933603G>A ENST00000348070.1 - 9 1019 c.1020C>T c.(1018-1020)ttC>ttT p.F340F PCSK6_ENST00000331826.7_Silent_p.F175F|PCSK6_ENST00000358417.3_Silent_p.F340F|PCSK6_ENST00000398181.2_Silent_p.F340F|PCSK6_ENST00000344273.2_Silent_p.F340F|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 341 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.F340F(3) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGCCCAGACGAAAATGGAGC 0.627000 16 29 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11407759 11407759 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11407759G>A ENST00000259089.4 + 6 1052 c.460G>A c.(460-462)Gaa>Aaa p.E154K BLK_ENST00000529894.1_Missense_Mutation_p.E83K NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 154 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAGAGAGAGTGAAACCAACAA 0.572000 15 13 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118581982 118581982 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:118581982C>G ENST00000336338.5 - 23 3317 c.3252G>C c.(3250-3252)aaG>aaC p.K1084N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1084 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTTCTCTTCCTTTTTCACAA 0.378000 18 32 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2334793 2334793 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2334793G>A ENST00000301732.5 - 24 4390 c.3690C>T c.(3688-3690)atC>atT p.I1230I ABCA3_ENST00000382381.3_Silent_p.I1172I NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1230 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGATGCGCATGATGGTGACCA 0.632000 8 16 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269947 150269947 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150269947C>T ENST00000255945.2 + 3 964 c.789C>T c.(787-789)atC>atT p.I263I GIMAP4_ENST00000461940.1_Silent_p.I277I|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 263 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAGAAAATCAGAAAGCTGG 0.463000 4 24 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29430476 29430476 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29430476G>A ENST00000377136.1 + 4 1395 c.930G>A c.(928-930)agG>agA p.R310R OR2H1_ENST00000442615.1_Silent_p.R310R|OR2H1_ENST00000396792.2_Silent_p.R310R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Silent_p.R310R|OR2H1_ENST00000377132.1_Silent_p.R310R Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GAGACTCCAGGGAAAGCTGGA 0.438000 10 39 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391650 31391650 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31391650G>A ENST00000268296.4 + 27 3245 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K ITGAX_ENST00000562522.1_Missense_Mutation_p.E1042K NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1042 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CGTCCAGGAGGAGCTGGATTT 0.622000 12 24 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33547955 33547955 + Splice_Site SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33547955G>A ENST00000294517.6 + 4 692 c.105_splice c.e4+1 p.T35_splice ADC_ENST00000398167.1_Splice_Site_p.T35_splice|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Splice_Site_p.T35_splice|ADC_ENST00000373443.3_Splice_Site_p.T35_splice|ADC_ENST00000358680.3_Splice_Site_p.T35_splice|ADC_ENST00000373440.1_Splice_Site_p.T35_splice NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 35 MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531). polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) AGGCCACCACGGTGAGGGGCT 0.602000 8 13 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481655 95481655 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:95481655C>T ENST00000432432.2 - 0 1705 NR_040113.1 TGTCATTTTTCATTGTACATA 0.299000 20 58 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104458467 104458467 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104458467G>A ENST00000229330.4 + 1 233 c.129G>A c.(127-129)gaG>gaA p.E43E NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 43 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGGGAAATGAGGGCATCGCGG 0.706000 9 25 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185073 24185073 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:24185073C>T ENST00000396671.2 - 8 1005 c.657G>A c.(655-657)tgG>tgA p.W219* THRB_ENST00000416420.1_Nonsense_Mutation_p.W219*|THRB_ENST00000356447.4_Nonsense_Mutation_p.W219*|THRB_ENST00000280696.5_Nonsense_Mutation_p.W234* NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 219 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGATGAGCTCCCATTCCTCGT 0.562000 31 54 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24991147 24991147 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:24991147G>A ENST00000406961.1 + 23 4865 c.4213G>A c.(4213-4215)Ggg>Agg p.G1405R NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1404R|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1405R Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1405 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGGTAGGCGGGGACCCTTA 0.552000 T PAX3 alveolar rhadomyosarcoma 39 69 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133035073 133035073 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:133035073C>T ENST00000367928.4 - 1 115 c.102G>A c.(100-102)gcG>gcA p.A34A NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 34 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TGGGCAATATCGCTGCATGCT 0.483000 21 18 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113314071 113314071 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:113314071C>T ENST00000297405.5 - 53 8635 c.8391G>A c.(8389-8391)agG>agA p.R2797R CSMD3_ENST00000343508.3_Silent_p.R2757R|CSMD3_ENST00000352409.3_Silent_p.R2727R|CSMD3_ENST00000455883.2_Silent_p.R2628R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2797 Sushi 17. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAAGGCATTCCCTTACAGCAG 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 81 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766509 88766509 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:88766509C>T ENST00000497649.2 + 6 795 c.417C>T c.(415-417)ctC>ctT p.L139L MEPE_ENST00000424957.3_Silent_p.L163L|MEPE_ENST00000560249.1_Silent_p.L50L|MEPE_ENST00000395102.4_Silent_p.L194L|MEPE_ENST00000540395.1_Silent_p.L50L|MEPE_ENST00000361056.3_Silent_p.L163L|MEPE_ENST00000508016.1_3'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 163 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CGATTAAACTCCTGGGGGAAG 0.403000 24 32 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21124449 21124449 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21124449G>A ENST00000269228.5 - 13 2543 c.1989C>T c.(1987-1989)atC>atT p.I663I NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I345I NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 663 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity p.I663I(1) breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGCTCAGCACGATCAAGATGC 0.532000 25 52 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881493 26881493 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:26881493C>T ENST00000231021.4 - 12 2294 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 708 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCAATATTTTCCCACAGAGGC 0.418000 28 39 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912931 150912931 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:150912931G>A ENST00000329903.4 + 6 1989 c.1956G>A c.(1954-1956)ggG>ggA p.G652G NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 652 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TGTCTGATGGGATGAACAGCC 0.552000 17 8 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216258139 216258139 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216258139G>A ENST00000366943.2 - 25 5454 c.5068C>T c.(5068-5070)Cct>Tct p.P1690S RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.P1690S|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1690 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAATCCAGAGGTTCCCAAATA 0.428000 HNSCC(13;0.011) 38 51 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24569397 24569397 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:24569397C>T ENST00000545054.2 + 7 1725 c.807C>T c.(805-807)tcC>tcT p.S269S NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.S403S|PCK2_ENST00000561286.1_Silent_p.S269S|PCK2_ENST00000558096.1_Silent_p.S269S|PCK2_ENST00000559250.1_Silent_p.S415S|PCK2_ENST00000216780.4_Silent_p.S403S Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 403 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CTGTGACCTCCTGGCTGGGCA 0.542000 11 17 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176063 140176063 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140176063C>T ENST00000526136.1 + 1 1514 c.1514C>T c.(1513-1515)tCg>tTg p.S505L PCDHA2_ENST00000378132.1_Missense_Mutation_p.S505L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S505L|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGTTGTCGAGCTACGTT 0.677000 28 64 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6626600 6626600 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:6626600C>T ENST00000379953.2 + 4 650 c.298C>T c.(298-300)Ccc>Tcc p.P100S LY86_ENST00000230568.4_Missense_Mutation_p.P100S O95711 LY86_HUMAN lymphocyte antigen 86 100 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) TTTCTCCTATCCCATCTGTGA 0.483000 14 63 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853703 40853703 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:40853703T>G ENST00000255224.3 - 2 1059 c.691A>C c.(691-693)Acc>Ccc p.T231P SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.T213P NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 231 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TGGATTTGGGTGTAGGGTATC 0.408000 21 78 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100420164 100420164 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100420164C>T ENST00000358173.3 - 4 1005 c.537G>A c.(535-537)caG>caA p.Q179Q EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.Q179Q NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 179 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CACCCTGGTCCTGGAAGGCCA 0.627000 10 14 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70451069 70451069 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:70451069C>T ENST00000327305.6 - 7 1369 c.712G>A c.(712-714)Gat>Aat p.D238N NETO1_ENST00000583169.1_Missense_Mutation_p.D238N|NETO1_ENST00000299430.2_Missense_Mutation_p.D237N NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 238 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTGCTTCCATCATACACAGCC 0.413000 63 192 0 0 1 0 0 LLPH 84298 broad.mit.edu 37 12 66517682 66517682 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:66517682C>T ENST00000266604.2 - 3 398 c.328G>A c.(328-330)Gag>Aag p.E110K LLPH_ENST00000446587.2_Missense_Mutation_p.E110K NM_032338.3 NP_115714.1 Q9BRT6 LLPH_HUMAN LLP homolog, long-term synaptic facilitation (Aplysia) 110 Lys-rich. central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5 TTTCTTTTCTCTCGCTTTGCC 0.423000 21 58 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93127783 93127783 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:93127783G>A ENST00000298050.3 + 10 1300 c.1200G>A c.(1198-1200)atG>atA p.M400I CCDC67_ENST00000525646.1_Missense_Mutation_p.M142I NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 400 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGTTAAAAATGGAATTAGAAA 0.383000 9 17 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314569 176314569 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176314569C>T ENST00000292432.5 - 11 1574 c.1483G>A c.(1483-1485)Gat>Aat p.D495N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 495 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCAGTTGATCATGGTTCAAC 0.682000 21 27 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22848016 22848016 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:22848016C>T ENST00000404138.1 + 16 3587 c.3076C>T c.(3076-3078)Cga>Tga p.R1026* ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.R1026*|ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.R914* NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1026 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTACCACAATCGAACCCACCA 0.498000 26 41 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55587279 55587279 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:55587279C>T ENST00000373965.2 - 33 4656 c.4262G>A c.(4261-4263)cGa>cAa p.R1421Q PCDH15_ENST00000395432.2_Missense_Mutation_p.R1374Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1389Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1025Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1411Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1416Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1414Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1343Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1421Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1414Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1414Q NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1414 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.R1414Q(2)|p.R1419Q(1)|p.R1416Q(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGCCTGAATTCGTGCAGTCTT 0.542000 HNSCC(58;0.16) 15 43 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010384 78010384 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:78010384C>T ENST00000435339.2 + 2 423 c.18C>T c.(16-18)ttC>ttT p.F6F RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.F6F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 6 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ACAGAAGATTCATTGACTTCC 0.438000 20 5 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738692 102738692 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:102738692G>A ENST00000210633.3 + 7 808 c.730G>A c.(730-732)Gag>Aag p.E244K SEMA4G_ENST00000517724.1_Missense_Mutation_p.E244K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E244K|MRPL43_ENST00000370241.3_3'UTR|SEMA4G_ENST00000519756.1_Intron|MRPL43_ENST00000318325.2_3'UTR Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 244 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTTCTTCACGGAGCGTGCCAC 0.602000 16 25 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033154 20033154 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:20033154C>T ENST00000377340.2 - 2 347 c.316G>A c.(316-318)Gcc>Acc p.A106T CRNKL1_ENST00000377327.4_Missense_Mutation_p.A94T NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 106 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GTGACGGAGGCGGCACCGTTT 0.607000 12 35 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921449 25921449 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:25921449C>T ENST00000377850.3 - 4 956 c.432G>A c.(430-432)gtG>gtA p.V144V SLC17A2_ENST00000360488.3_Silent_p.V144V|SLC17A2_ENST00000265425.3_Silent_p.V144V O00624 NPT3_HUMAN solute carrier family 17, member 2 144 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGACCAAAATCACTCCGAAGT 0.448000 30 129 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064315 9064315 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9064315G>A ENST00000397910.4 - 3 23334 c.23131C>T c.(23131-23133)Ccc>Tcc p.P7711S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7713 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 GGAGAGGGGGGGATATGTGCT 0.547000 26 32 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254943 3254943 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:3254943G>A ENST00000304646.2 + 1 697 c.697G>A c.(697-699)Gga>Aga p.G233R AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 ATCCACAAAGGGAAGGTGGAA 0.512000 41 67 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113785485 113785485 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:113785485C>T ENST00000327407.2 - 5 576 c.469G>A c.(469-471)Gaa>Aaa p.E157K IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 0 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TGGATTTATTCCACAGAATCT 0.463000 9 18 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 822892 822892 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:822892C>T ENST00000293892.3 - 11 2292 c.2293G>A c.(2293-2295)Gag>Aag p.E765K MSLNL_ENST00000442466.1_Missense_Mutation_p.E414K Q96KJ4 MSLNL_HUMAN mesothelin-like 414 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GCCCTCACCTCTGTCTGGTTC 0.682000 10 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598191 179598191 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179598191G>A ENST00000589042.1 - 54 16053 c.15829C>T c.(15829-15831)Ccc>Tcc p.P5277S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4960S|TTN_ENST00000342992.6_Missense_Mutation_p.P4033S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4960 Ig-like 33. 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) AGTGTGGCGGGATCTCCTGCT 0.478000 76 105 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124283811 124283811 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124283811G>A ENST00000409039.3 + 13 1853 c.1828G>A c.(1828-1830)Gaa>Aaa p.E610K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 610 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAAATATTTGGAAGTAGGTAG 0.388000 21 26 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13323301 13323301 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13323301G>A ENST00000360228.5 - 42 6085 c.6086C>T c.(6085-6087)tCc>tTc p.S2029F CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2030F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2030 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGTCACCCAGGACGGGCTCTC 0.642000 4 1 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546995 37546995 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:37546995G>A ENST00000299824.1 + 11 1579 c.1390G>A c.(1390-1392)Gac>Aac p.D464N PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D422N NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 464 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) TGGCGTGGCCGACGCCACCCC 0.642000 26 57 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873549 36873549 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:36873549C>T ENST00000429976.2 - 21 7640 c.7393G>A c.(7393-7395)Gaa>Aaa p.E2465K TRANK1_ENST00000301807.6_Missense_Mutation_p.E1915K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1915K O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2465 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGTTTGTATTCCTGAATGATG 0.483000 32 43 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982861 75982861 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:75982861C>T ENST00000308508.5 - 3 637 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 182 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGTCAGAGGCCGGAGGAGGCT 0.657000 4 64 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180622 142180622 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142180622G>A ENST00000390368.2 - 0 302 AGCCATTGGGGACTTCTCCTT 0.527000 83 364 0 0 1 0 0 FRRS1L 23732 broad.mit.edu 37 9 111903822 111903822 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:111903822G>A ENST00000374581.3 - 4 662 c.663C>T c.(661-663)gtC>gtT p.V221V NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like 221 DOMON. integral to membrane GCTGTATGCGGACCCTGCCAT 0.448000 20 39 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626719 108626719 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108626719G>A ENST00000264047.2 + 9 1421 c.1145G>A c.(1144-1146)cGa>cAa p.R382Q SLC5A7_ENST00000540517.1_Missense_Mutation_p.R277Q|SLC5A7_ENST00000409059.1_Missense_Mutation_p.R382Q NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 382 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGGTTATGCGAATCACAGTG 0.453000 15 37 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854660 18854660 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18854660C>T ENST00000447925.2 - 8 1178 c.909G>A c.(907-909)aaG>aaA p.K303K PLCZ1_ENST00000539875.1_Silent_p.K112K|PLCZ1_ENST00000538330.1_Silent_p.K46K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Silent_p.K305K|PLCZ1_ENST00000541695.1_Silent_p.K168K|PLCZ1_ENST00000435379.1_Silent_p.K110K NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 305 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CATGGGTTTCCTTTAAGGTTC 0.383000 7 16 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729434 74729434 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:74729434C>T ENST00000308807.7 - 2 685 c.222G>A c.(220-222)ggG>ggA p.G74G MLKL_ENST00000306247.7_Silent_p.G74G NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 74 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTTCTATCTCCCCATTAGCCT 0.498000 32 53 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329471 56329471 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56329471G>A ENST00000443188.1 - 4 780 c.70C>T c.(70-72)Cag>Tag p.Q24* NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.Q24*|NLRP11_ENST00000589093.1_Nonsense_Mutation_p.Q24*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.Q24* NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 24 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTAAAACTCTGAAATTCCTTG 0.438000 18 31 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811842 13811842 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13811842G>A ENST00000265104.4 - 44 7425 c.7321C>T c.(7321-7323)Cag>Tag p.Q2441* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2441 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTAAGTTCTGGATACAGAAG 0.448000 Kartagener syndrome 22 39 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170735 58170735 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:58170735C>T ENST00000309403.2 - 1 147 c.148G>A c.(148-150)Gat>Aat p.D50N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACAGGAATCCCAGAATATC 0.423000 28 43 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208418 140208418 + Missense_Mutation SNP G G A rs149898673 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140208418G>A ENST00000529310.1 + 1 856 c.742G>A c.(742-744)Gaa>Aaa p.E248K PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E248K|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTGAATACGAAGTAAGAAT 0.453000 31 41 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157909 26157909 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:26157909C>T ENST00000325250.1 + 2 994 c.807C>T c.(805-807)ttC>ttT p.F269F NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 269 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GCTATGAATTCCTGTGGGGTC 0.502000 10 6 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208773 100208773 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100208773G>A ENST00000209668.2 - 2 181 c.68C>T c.(67-69)tCc>tTc p.S23F RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 23 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTCCTCAATGGAAAAGGGTTT 0.408000 23 38 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621534 32621534 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:32621534C>T ENST00000338921.4 + 13 2078 c.1561C>T c.(1561-1563)Cct>Tct p.P521S NRG1_ENST00000539990.1_Missense_Mutation_p.P356S|NRG1_ENST00000356819.4_Missense_Mutation_p.P518S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.P513S|NRG1_ENST00000405005.2_Missense_Mutation_p.P513S|NRG1_ENST00000287842.3_Missense_Mutation_p.P510S|NRG1_ENST00000287845.5_Missense_Mutation_p.P484S|NRG1_ENST00000519301.1_Missense_Mutation_p.P463S Q02297 NRG1_HUMAN neuregulin 1 513 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TAACAGCCTCCCTGCTAGCCC 0.562000 14 20 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534825 96534825 + Missense_Mutation SNP T T G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534825T>G ENST00000371321.3 + 2 261 c.179T>G c.(178-180)aTc>aGc p.I60S CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 60 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CTCTCAAAAATCTATGGCCCT 0.413000 20 34 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13915760 13915760 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13915760C>T ENST00000254323.2 + 3 699 c.510C>T c.(508-510)gcC>gcT p.A170A NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 170 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ACGTGGTGGCCCTGTCCCTGT 0.622000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106861258 106861258 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:106861258G>A ENST00000379987.2 + 6 748 c.532G>A c.(532-534)Gcc>Acc p.A178T NPNT_ENST00000305572.8_Missense_Mutation_p.A178T|NPNT_ENST00000514622.1_Missense_Mutation_p.A178T|NPNT_ENST00000453617.2_Missense_Mutation_p.A195T|NPNT_ENST00000506666.1_Missense_Mutation_p.A208T|NPNT_ENST00000427316.2_Missense_Mutation_p.A208T NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 178 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TACAGGAAGAGCCTCCTGCCC 0.388000 22 32 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71044147 71044147 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:71044147C>T ENST00000272367.2 - 4 442 c.366G>A c.(364-366)caG>caA p.Q122Q CLEC4F_ENST00000426626.1_Silent_p.Q122Q NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 122 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 ACTTCAACATCTGGATTTCTA 0.483000 28 47 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19317435 19317435 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19317435G>A ENST00000461366.1 + 7 1068 c.853G>A c.(853-855)Gat>Aat p.D285N NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 285 GTP binding|GTPase activity|zinc ion binding p.D285N(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGAGCTGAAGGATACAGACCT 0.562000 13 37 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784609 82784609 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82784609G>A ENST00000423517.2 - 2 1685 c.1348C>T c.(1348-1350)Cca>Tca p.P450S PCLO_ENST00000333891.8_Missense_Mutation_p.P450S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 401 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTTGAGCTGGAATCTTTCCT 0.577000 16 32 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579012 82579012 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82579012G>A ENST00000423517.2 - 6 11229 c.10892C>T c.(10891-10893)tCa>tTa p.S3631L PCLO_ENST00000437081.1_Missense_Mutation_p.S351L|PCLO_ENST00000333891.8_Missense_Mutation_p.S3631L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3562 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTGCCTGGTGAAAGTGGTGA 0.468000 31 71 0 0 1 0 0 TRGV4 6977 broad.mit.edu 37 7 38393368 38393368 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:38393368C>T ENST00000390345.2 - 0 635 AATAAGATTTCGCAGTATCAT 0.468000 13 20 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418940 418940 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:418940C>T ENST00000332826.6 - 21 2068 c.1984G>A c.(1984-1986)Gac>Aac p.D662N NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 662 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TCCTGGAAGTCCTTGGTGTGG 0.617000 71 120 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71015054 71015054 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:71015054G>A ENST00000318789.4 - 20 2401 c.1876C>T c.(1876-1878)Cct>Tct p.P626S FOXP1_ENST00000491238.1_Missense_Mutation_p.P628S|FOXP1_ENST00000484350.1_Missense_Mutation_p.P550S|FOXP1_ENST00000475937.1_Missense_Mutation_p.P626S|FOXP1_ENST00000498215.1_Missense_Mutation_p.P626S|FOXP1_ENST00000493089.1_Missense_Mutation_p.P625S|FOXP1_ENST00000468577.1_Missense_Mutation_p.P562S NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 626 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCTTGCATAGGAGATCTGCCT 0.547000 T PAX5 ALL 84 151 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77242369 77242369 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:77242369G>A ENST00000167106.4 + 5 1298 c.665G>A c.(664-666)cGg>cAg p.R222Q RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 222 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) GGCATGAGTCGGCGCGAGGAC 0.647000 6 7 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058282 11058282 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:11058282G>A ENST00000470054.1 - 0 365 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTCTTCACAGCATTTGATAG 0.403000 5 187 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650053 93650053 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:93650053C>T ENST00000375754.4 + 12 1752 c.1604C>T c.(1603-1605)cCt>cTt p.P535L SYK_ENST00000375747.1_Missense_Mutation_p.P512L|SYK_ENST00000375746.1_Missense_Mutation_p.P535L|SYK_ENST00000375751.4_Missense_Mutation_p.P512L NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 535 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGAAAGTGGCCTGTCAAGTGG 0.478000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 55 42 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46825222 46825222 + Splice_Site SNP C C T rs141145645 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:46825222C>T ENST00000339613.2 + 10 1421 c.1167_splice c.e10+1 p.S389_splice HIF3A_ENST00000377670.4_Splice_Site_p.S445_splice|HIF3A_ENST00000472815.1_Splice_Site_p.S376_splice|HIF3A_ENST00000420102.2_Splice_Site_p.S394_splice|HIF3A_ENST00000600383.1_Splice_Site_p.S376_splice|HIF3A_ENST00000300862.3_Splice_Site_p.S443_splice|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Splice_Site_p.S376_splice Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.S443L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGTCCTCTTTCGGTAAGCCAT 0.627000 23 21 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350431 100350431 + RNA SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100350431C>T ENST00000542585.1 + 0 2851 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AACTCACCATCCCCACAGAAA 0.507000 34 61 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209968671 209968671 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209968671G>A ENST00000367021.3 - 5 644 c.472C>T c.(472-474)Ccc>Tcc p.P158S IRF6_ENST00000542854.1_Missense_Mutation_p.P63S NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 158 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TCCTGGATGGGAACATGGTGC 0.507000 HNSCC(57;0.16) 48 76 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101323826 101323826 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:101323826C>T ENST00000344327.3 - 13 3080 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K TRPC6_ENST00000360497.4_Missense_Mutation_p.E831K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E808K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E770K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 886 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGCTTAATTTCCTTCAGTTCC 0.398000 20 37 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123755341 123755341 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123755341C>T ENST00000375026.2 - 2 400 c.184G>A c.(184-186)Gac>Aac p.D62N NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 62 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 ACTTTCAGGTCATCTGTTGGA 0.423000 24 63 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990217 89990217 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89990217G>A ENST00000405460.2 + 33 7740 c.7644G>A c.(7642-7644)atG>atA p.M2548I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2548 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) TTCACCTCATGAACATTTCAG 0.393000 17 58 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033251 82033251 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:82033251G>A ENST00000328945.5 - 3 774 c.647C>T c.(646-648)cCc>cTc p.P216L NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 216 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CAGGCTCCTGGGGTCCCCGTA 0.552000 38 94 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105176039 105176039 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:105176039C>T ENST00000392634.4 + 12 2247 c.2135C>T c.(2134-2136)cCc>cTc p.P712L INF2_ENST00000330634.7_Missense_Mutation_p.P712L NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 712 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGGCCATTCCCTGGTGAGCA 0.652000 23 46 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8317926 8317926 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:8317926G>A ENST00000381196.4 - 43 6230 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F PTPRD_ENST00000355233.5_Missense_Mutation_p.S1490F|PTPRD_ENST00000397611.3_Missense_Mutation_p.S1486F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S1486F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1874F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1896F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1883F|PTPRD_ENST00000397606.3_Missense_Mutation_p.S1489F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S1489F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1896F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1896 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGCACGATAGGAAAACTGATA 0.408000 TSP Lung(15;0.13) 35 78 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539762 133539762 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:133539762C>T ENST00000409261.1 - 14 4995 c.4622G>A c.(4621-4623)gGg>gAg p.G1541E NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1541E|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1541 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTTTCCAAACCCCAAGACTTT 0.393000 13 34 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71447268 71447268 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:71447268G>A ENST00000355327.3 + 3 230 c.96G>A c.(94-96)agG>agA p.R32R THSD4_ENST00000261862.6_Silent_p.R32R|RP11-673C5.2_ENST00000561571.1_RNA Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 32 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTCAACACAGGAAGGTAAGCC 0.527000 30 51 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40122212 40122212 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:40122212T>C ENST00000373233.3 - 10 1457 c.1280A>G c.(1279-1281)gAa>gGa p.E427G CHD6_ENST00000309279.7_Missense_Mutation_p.E427G NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 427 Chromo 2. 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) TTGAAGAGATTCAAATTCTTT 0.398000 28 55 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003606 57003606 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57003606G>A ENST00000606794.1 - 1 1069 c.873C>T c.(871-873)ttC>ttT p.F291F NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 291 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGCAGTAGGGGAAGATGTTCA 0.587000 16 18 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894149 23894149 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23894149G>A ENST00000355349.3 - 22 2670 c.2508C>T c.(2506-2508)atC>atT p.I836I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 836 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCAGCGGCTTGATCTTGAAGT 0.557000 22 54 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215823125 215823125 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:215823125G>A ENST00000272895.7 - 41 6212 c.5993C>T c.(5992-5994)tCt>tTt p.S1998F AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1680F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1998 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGTGGTGACAGAGTAGCCCAT 0.438000 19 49 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 140997255 140997255 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:140997255C>T ENST00000508812.1 + 2 2031 c.124C>T c.(124-126)Cct>Tct p.P42S ACPL2_ENST00000504264.1_Missense_Mutation_p.P34S|ACPL2_ENST00000393007.1_Missense_Mutation_p.P35S|ACPL2_ENST00000502783.1_Missense_Mutation_p.P13S|ACPL2_ENST00000393010.2_Missense_Mutation_p.P51S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.P51S Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 51 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CATGCCCGACCCTGTGACGGA 0.552000 21 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434141 179434141 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179434141C>T ENST00000589042.1 - 326 76942 c.76718G>A c.(76717-76719)cGa>cAa p.R25573Q TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23005Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16700Q|TTN_ENST00000359218.5_Missense_Mutation_p.R16633Q|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23932 Fibronectin type-III 86. 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) ACTATCATATCGGTTGACATT 0.423000 18 25 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141130 143141130 + Missense_Mutation SNP C C G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143141130C>G ENST00000332690.1 + 1 585 c.585C>G c.(583-585)ttC>ttG p.F195L EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 195 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATCTCTTCCCTCTAAAAA 0.423000 56 199 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53298230 53298230 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:53298230G>A ENST00000448904.2 - 4 480 c.370C>T c.(370-372)Cgt>Tgt p.R124C LECT1_ENST00000377962.3_Missense_Mutation_p.R124C NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 124 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCAGCAAAACGAATTCCTGTG 0.438000 14 38 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57611094 57611094 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57611094G>A ENST00000371236.2 - 3 339 c.76C>T c.(76-78)Cgc>Tgc p.R26C DAB1_ENST00000371234.4_Missense_Mutation_p.R26C|DAB1_ENST00000439789.2_Missense_Mutation_p.R26C|DAB1_ENST00000371230.1_Missense_Mutation_p.R26C|DAB1_ENST00000371231.1_Missense_Mutation_p.R26C|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.R26C|DAB1_ENST00000414851.2_Missense_Mutation_p.R26C O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 26 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTTCACTGCGATCCTGACCT 0.458000 23 47 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124855690 124855690 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:124855690G>A ENST00000321582.5 - 1 195 c.8C>T c.(7-9)gCc>gTc p.A3V TTLL11_ENST00000373776.3_Missense_Mutation_p.A3V NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 3 protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 AGAGGCAGCGGCGGCCATGTT 0.697000 2 0 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148009443 148009443 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148009443G>C ENST00000369219.1 - 16 1880 c.1864C>G c.(1864-1866)Cct>Gct p.P622A Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 622 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CAACCTGAAGGAGTTGAATAG 0.478000 41 497 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57378177 57378177 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57378177C>T ENST00000361249.3 + 10 1578 c.1482C>T c.(1480-1482)ttC>ttT p.F494F NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 494 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TGATGGAATTCAATGCCTGCC 0.637000 25 41 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274625 29274625 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29274625C>T ENST00000377160.2 + 1 223 c.159C>T c.(157-159)ctC>ctT p.L53L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ACCGTCGTCTCCATTCCCCCA 0.468000 159 27 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321563 52321563 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:52321563G>A ENST00000356297.4 - 17 2721 c.2621C>T c.(2620-2622)cCc>cTc p.P874L PXDNL_ENST00000543296.1_Missense_Mutation_p.P874L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 874 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGTCGCAGAGGGACGGCCGCT 0.652000 39 9 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364270 47364270 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:47364270G>A ENST00000399249.2 - 16 1537 c.1483C>T c.(1483-1485)Cgg>Tgg p.R495W MYBPC3_ENST00000545968.1_Missense_Mutation_p.R495W|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R494W Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 494 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCTCCTCCCGGGTCAGCTCC 0.627000 44 71 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3829438 3829438 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:3829438C>T ENST00000324333.10 - 9 2256 c.2063G>A c.(2062-2064)aGa>aAa p.R688K GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R843K NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 688 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CGGCACAATTCTCTGGGAATC 0.532000 16 38 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230171 39230171 + Missense_Mutation SNP C C T rs150437844 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:39230171C>T ENST00000340369.3 - 2 994 c.766G>A c.(766-768)Gca>Aca p.A256T XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A256T NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 256 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCCGGCATGCGGCCTTGACC 0.617000 39 53 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49063906 49063906 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:49063906G>A ENST00000226432.4 + 16 2282 c.2099G>A c.(2098-2100)tGa>tAa p.*700* CWH43_ENST00000513409.1_Silent_p.*673* NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 0 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TACTTTTTATGAAACATTTAA 0.254000 13 22 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248974 20248974 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20248974C>T ENST00000315957.4 + 1 574 c.493C>T c.(493-495)Cga>Tga p.R165* NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCATTGTTCGACTTCCTTT 0.493000 43 165 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16337700 16337700 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:16337700C>T ENST00000400202.1 - 3 3526 c.2814G>A c.(2812-2814)caG>caA p.Q938Q NRIP1_ENST00000400199.1_Silent_p.Q938Q|NRIP1_ENST00000318948.4_Silent_p.Q938Q P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 938 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AGAGAAGCAGCTGTTTCAGAA 0.433000 32 61 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21181241 21181241 + Missense_Mutation SNP A A T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21181241A>T ENST00000592179.1 - 10 1009 c.855T>A c.(853-855)aaT>aaA p.N285K ANKRD29_ENST00000284207.7_Missense_Mutation_p.N252K|ANKRD29_ENST00000322980.9_Missense_Mutation_p.N252K NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 285 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATATACGTTCATTTTTGGTTA 0.428000 25 32 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34052167 34052167 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:34052167C>T ENST00000373381.4 - 46 7164 c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2332 Sushi 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCAGAATTTCATTCCCCACT 0.478000 25 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89989980 89989980 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89989980G>A ENST00000405460.2 + 33 7503 c.7407G>A c.(7405-7407)tgG>tgA p.W2469* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2469 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) TGACATCATGGATCAGCCCAG 0.478000 5 8 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78493599 78493599 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:78493599G>A ENST00000377211.4 - 1 304 c.152C>T c.(151-153)gCt>gTt p.A51V NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 0 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCGGAACCCAGCTGGGTTCCA 0.582000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 21 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39688490 39688490 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39688490C>T ENST00000287152.7 - 2 258 c.164G>A c.(163-165)aGc>aAc p.S55N KIF6_ENST00000538893.1_Missense_Mutation_p.S55N|KIF6_ENST00000373216.3_Missense_Mutation_p.S55N|KIF6_ENST00000373215.3_Missense_Mutation_p.S55N NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 55 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AAATTTGTAGCTTTCTCGCTT 0.303000 10 69 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130280114 130280114 + Missense_Mutation SNP G G C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:130280114G>C ENST00000373312.3 - 6 909 c.696C>G c.(694-696)aaC>aaG p.N232K FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.N219K NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 232 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCTGCACCTCGTTCCCACACA 0.622000 12 26 0 0 1 0 0 NPIPB4 440345 broad.mit.edu 37 16 21854860 21854860 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21854860G>A ENST00000415645.2 - 4 431 c.392C>T c.(391-393)tCc>tTc p.S131F NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.S131F nuclear pore complex interacting protein family, member B4 TCCTCGAAAGGAAGAAACTCT 0.428000 31 150 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514575 51514575 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:51514575T>C ENST00000396402.1 - 5 752 c.599A>G c.(598-600)aAc>aGc p.N200S CYP19A1_ENST00000396404.4_Missense_Mutation_p.N200S|CYP19A1_ENST00000557858.1_Missense_Mutation_p.N200S|CYP19A1_ENST00000559878.1_Missense_Mutation_p.N200S|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000405913.3_Missense_Mutation_p.N200S|CYP19A1_ENST00000260433.2_Missense_Mutation_p.N200S NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 200 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GAAGAGCGTGTTAGAGGTGTC 0.493000 25 53 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389846 158389846 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158389846C>T ENST00000314902.2 - 1 810 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ATTAGAGCATCCTGGCTTGAG 0.378000 17 46 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7920973 7920973 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:7920973C>T ENST00000378789.3 - 1 148 c.97G>A c.(97-99)Gat>Aat p.D33N NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 33 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTTTCTTCATCATTTGCCCCA 0.318000 16 29 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133233743 133233743 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:133233743G>A ENST00000320574.5 - 29 3604 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F POLE_ENST00000535270.1_Silent_p.F1160F NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1187 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTCCAGGGTGAAGAGCTCAC 0.567000 DNA polymerases (catalytic subunits) 29 42 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30938428 30938428 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:30938428C>T ENST00000597505.1 - 24 3440 c.3441G>A c.(3439-3441)caG>caA p.Q1147Q DCDC1_ENST00000339794.5_Silent_p.Q226Q|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGTGTTTCTTCTGTGGTTCCA 0.403000 10 19 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201559 24201559 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24201559G>A ENST00000536471.1 - 3 807 c.549C>T c.(547-549)ttC>ttT p.F183F CNR2_ENST00000374472.4_Silent_p.F183F P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 183 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GGATCAGTGGGAAAAGCTCAG 0.567000 11 27 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6080834 6080834 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:6080834T>C ENST00000199389.6 - 9 954 c.808A>G c.(808-810)Aaa>Gaa p.K270E EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.K146E NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 270 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TCATCATTTTTAACACCACAT 0.403000 24 29 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28497338 28497338 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:28497338C>T ENST00000412168.2 + 2 287 c.198C>T c.(196-198)ttC>ttT p.F66F GPX5_ENST00000469384.1_Silent_p.F66F|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 66 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) ACATCCTCTTCGTCAACGTGG 0.428000 34 138 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17199318 17199318 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:17199318C>T ENST00000285681.2 + 14 1858 c.1489C>T c.(1489-1491)Cta>Tta p.L497L USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Silent_p.L497L|USP25_ENST00000400183.2_Silent_p.L497L Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 497 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) ACAGGGAGCCCTATCTTCAGA 0.428000 26 61 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176338 57176338 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57176338C>T ENST00000537055.2 - 2 460 c.229G>A c.(229-231)Gac>Aac p.D77N NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GAACTGCTGTCGTCGGGGACA 0.647000 12 16 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484941 97484941 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:97484941C>T ENST00000376705.2 + 2 929 c.905C>T c.(904-906)aCc>aTc p.T302I NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 302 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) ATGGATTGCACCTACAACCTG 0.542000 19 43 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427620 5427620 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:5427620G>A ENST00000399537.4 - 5 2183 c.1835C>T c.(1834-1836)cCc>cTc p.P612L TNRC18_ENST00000430969.1_Missense_Mutation_p.P612L O15417 TNC18_HUMAN trinucleotide repeat containing 18 612 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ACCTCCAAAGGGGCTCTTCTT 0.672000 3 2 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156747771 156747771 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:156747771C>T ENST00000347377.6 + 15 2063 c.1632C>T c.(1630-1632)atC>atT p.I544I CYFIP2_ENST00000541131.1_Silent_p.I469I|CYFIP2_ENST00000522463.1_Silent_p.I348I|CYFIP2_ENST00000318218.6_Silent_p.I544I|CYFIP2_ENST00000521420.1_Silent_p.I518I|CYFIP2_ENST00000377576.3_Silent_p.I544I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.I218I NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 544 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATTTGATATCAAGGTGCCCC 0.602000 6 9 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558218 140558218 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140558218G>A ENST00000239444.2 + 1 848 c.603G>A c.(601-603)ctG>ctA p.L201L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 201 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAAAGCGCTGGACCGAGAGG 0.532000 7 62 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25304722 25304722 + RNA SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:25304722G>A ENST00000549804.2 + 0 115 SNHG14_ENST00000384733.1_RNA ACATTCCTTGGAAAAGCTGAA 0.517000 56 130 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2797695 2797695 + Missense_Mutation SNP C C A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:2797695C>A ENST00000399655.1 + 46 6132 c.5867C>A c.(5866-5868)cCa>cAa p.P1956Q CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1962Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1991Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1976Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1984Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1973Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1997Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1964Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1964Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1981Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1956Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P2004Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2027Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1975Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1991Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2027Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2039 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCACCCCACCAGCCACACCT 0.652000 30 54 3.54561e-26 3.60901e-26 1 1 0 ETS2 2114 broad.mit.edu 37 21 40194662 40194662 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:40194662G>A ENST00000360214.3 + 11 1719 c.1259G>A c.(1258-1260)gGc>gAc p.G420D ETS2_ENST00000360938.3_Missense_Mutation_p.G420D NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 420 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CTGAGCCGGGGCTTACGCTAC 0.522000 20 40 0 0 1 0 0 C2orf47 79568 broad.mit.edu 37 2 200820786 200820786 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:200820786C>T ENST00000295079.2 + 2 587 c.265C>T c.(265-267)Cct>Tct p.P89S C2orf47_ENST00000392290.1_Missense_Mutation_p.P89S NM_024520.2 NP_078796.2 Q8WWC4 CB047_HUMAN chromosome 2 open reading frame 47 89 mitochondrion cervix(1)|endometrium(2)|large_intestine(1)|lung(5) 9 cgcttctttccctgcctgccc 0.647000 4 5 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48698086 48698086 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:48698086G>A ENST00000236495.5 + 9 1070 c.1020G>A c.(1018-1020)aaG>aaA p.K340K SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.K315K|SLC5A9_ENST00000533824.1_Silent_p.K336K NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 315 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CTCATGCCAAGGGAGGCTCCG 0.577000 10 29 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296061 20296061 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20296061G>T ENST00000568211.1 + 1 454 c.454G>T c.(454-456)Ggt>Tgt p.G152C OR4N2_ENST00000315947.1_Missense_Mutation_p.G152C Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGCTTGGGGGTTTTGTCCA 0.532000 37 158 4.01765e-15 4.07179e-15 1 1 0 SNCAIP 9627 broad.mit.edu 37 5 121785620 121785620 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:121785620C>T ENST00000261367.7 + 11 3242 c.1814C>T c.(1813-1815)cCt>cTt p.P605L SNCAIP_ENST00000379533.2_Missense_Mutation_p.P605L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P192L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P498L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P558L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P160L|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P116L Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 558 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAGTCACTCCCTTCTTCACCC 0.408000 29 59 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1005700 1005700 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1005700C>T ENST00000537687.1 + 24 7470 c.6827C>T c.(6826-6828)gCc>gTc p.A2276V WNK1_ENST00000315939.6_Missense_Mutation_p.A2016V|WNK1_ENST00000340908.4_Missense_Mutation_p.A1609V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1768V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2514V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2016 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) GACCCGGAGGCCGCTTTTTTA 0.498000 13 29 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404428 20404428 + Silent SNP G G A rs149331677 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20404428G>A ENST00000285600.4 + 1 662 c.603G>A c.(601-603)acG>acA p.T201T NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGACCCTAACGAACAGTGGCC 0.448000 21 57 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54794678 54794678 + Silent SNP C C T rs148991401 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:54794678C>T ENST00000293379.4 - 25 2856 c.2595G>A c.(2593-2595)acG>acA p.T865T RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 865 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTTGAGTCCCGTAACTCTGG 0.557000 8 22 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656204 12656204 + Nonsense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12656204G>A ENST00000425538.1 + 10 1799 c.1599G>A c.(1597-1599)tgG>tgA p.W533* MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437* NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 533 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACTCACCTGGAAACTCCAGC 0.537000 19 25 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31877510 31877510 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:31877510C>T ENST00000396184.3 - 11 1260 c.1056G>A c.(1054-1056)atG>atA p.M352I PDE1C_ENST00000396193.1_Missense_Mutation_p.M412I|PDE1C_ENST00000396182.2_Missense_Mutation_p.M352I|PDE1C_ENST00000321453.7_Missense_Mutation_p.M352I|PDE1C_ENST00000396191.1_Missense_Mutation_p.M352I NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 352 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GAGCAGTCTTCATTGCTTTGA 0.433000 58 103 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759074 55759074 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55759074C>T ENST00000343399.3 + 1 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TGTATTTCTTCCTTCGGAACT 0.418000 48 83 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638230 234638230 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234638230C>T ENST00000482026.1 + 1 477 c.458C>T c.(457-459)cCc>cTc p.P153L UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTAACAGACCCCGTTAACCTC 0.453000 57 137 0 0 1 0 0 METTL2B 55798 broad.mit.edu 37 7 128119424 128119424 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:128119424G>A ENST00000480046.1 + 2 335 c.220G>A c.(220-222)Gaa>Aaa p.E74K METTL2B_ENST00000262432.8_Missense_Mutation_p.E139K Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 139 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AATAATGGAAGAACAGCACAA 0.388000 10 116 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202270330 202270330 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:202270330C>T ENST00000367278.3 + 9 985 c.896C>T c.(895-897)tCg>tTg p.S299L LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.S160L|LGR6_ENST00000255432.7_Missense_Mutation_p.S247L NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 299 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGGGAAGATCGGCATTCCAG 0.488000 16 23 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112724282 112724282 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:112724282G>A ENST00000501255.2 - 3 1118 c.495C>T c.(493-495)ttC>ttT p.F165F GPR85_ENST00000449591.1_Silent_p.F165F|GPR85_ENST00000297146.2_Silent_p.F165F|GPR85_ENST00000424100.1_Silent_p.F165F NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 165 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCTCCCTAATGAATGAGTAAG 0.507000 26 117 0 0 1 0 0 SPR 6697 broad.mit.edu 37 2 73118507 73118507 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:73118507C>T ENST00000234454.5 + 3 700 c.627C>T c.(625-627)gcC>gcT p.A209A SPR_ENST00000498749.1_3'UTR NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 209 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 AGCAGTTGGCCCGGGAGACCT 0.567000 19 39 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12577583 12577583 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12577583A>G ENST00000397732.3 - 2 256 c.85T>C c.(85-87)Tac>Cac p.Y29H ZNF709_ENST00000428311.1_Missense_Mutation_p.Y29H|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.Y29H NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ACATCTCTGTAGAGTTTCTTC 0.438000 33 68 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306738 41306738 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:41306738G>A ENST00000373198.3 - 7 1156 c.921C>T c.(919-921)atC>atT p.I307I PTPRT_ENST00000373187.1_Silent_p.I307I|PTPRT_ENST00000373201.1_Silent_p.I307I|PTPRT_ENST00000373193.3_Silent_p.I307I|PTPRT_ENST00000373184.1_Silent_p.I307I|PTPRT_ENST00000356100.2_Silent_p.I307I|PTPRT_ENST00000373190.1_Silent_p.I307I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 307 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CATTTGGCTTGATCCACAGGT 0.552000 8 11 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136898796 136898796 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:136898796C>T ENST00000303407.7 - 12 2282 c.2097G>A c.(2095-2097)ccG>ccA p.P699P BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 699 Ser-rich. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TGAGCCTGGACGGGCCCCCTG 0.647000 T C15orf55 lethal midline carcinoma of young people 6 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7669782 7669782 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7669782C>T ENST00000572933.1 + 22 5118 c.3658C>T c.(3658-3660)Ctt>Ttt p.L1220F DNAH2_ENST00000389173.2_Missense_Mutation_p.L1220F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1220 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCCAAGGACCTTCAGAACCT 0.572000 11 37 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680725 159680725 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:159680725G>A ENST00000393977.3 - 7 1253 c.968C>T c.(967-969)cCc>cTc p.P323L CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P275L NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 323 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACTTGAGTGGGGGTGGGGGG 0.642000 20 37 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204931241 204931241 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:204931241C>T ENST00000539706.1 + 8 1022 c.694C>T c.(694-696)Cct>Tct p.P232S NFASC_ENST00000367172.4_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.P232S|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000403080.1_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.P232S|NFASC_ENST00000513543.1_Missense_Mutation_p.P232S|NFASC_ENST00000339876.6_Intron NM_001160332.1 NP_001153804.1 O94856 NFASC_HUMAN neurofascin 236 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TACAGACCACCCTTATAATGA 0.488000 108 263 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439567 145439567 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:145439567C>T ENST00000511217.1 + 8 1746 c.1694C>T c.(1693-1695)gCc>gTc p.A565V SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.A565V Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 565 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCCCTCAGCCGTGGTGGTG 0.672000 20 37 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564867 47564867 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47564867C>T ENST00000334194.3 + 8 981 c.978C>T c.(976-978)atC>atT p.I326I CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 326 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCTCCTGGATCCTTTACTGCT 0.478000 41 52 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627088 108627088 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108627088G>A ENST00000264047.2 + 9 1790 c.1514G>A c.(1513-1515)gGa>gAa p.G505E SLC5A7_ENST00000540517.1_Missense_Mutation_p.G400E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G505E NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 505 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTGAAAGTGGAACCTTGCCA 0.313000 18 43 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895637 77895637 + Missense_Mutation SNP G G T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77895637G>T ENST00000262198.4 + 4 2796 c.2341G>T c.(2341-2343)Gat>Tat p.D781Y NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 781 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CACCTTCCATGATATCAAAGG 0.468000 38 111 1.30015e-28 1.32404e-28 1 1 0 LRMP 4033 broad.mit.edu 37 12 25254170 25254170 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:25254170G>A ENST00000354454.3 + 15 1629 c.800G>A c.(799-801)aGg>aAg p.R267K LRMP_ENST00000548766.1_Missense_Mutation_p.R267K|LRMP_ENST00000547044.1_Missense_Mutation_p.R267K NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 323 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AACTTGAAGAGGATGTATGCC 0.378000 30 42 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801409 9801409 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9801409G>A ENST00000457674.2 - 5 1288 c.770C>T c.(769-771)tCc>tTc p.S257F ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTTCTAAAGGATCTTCCACA 0.348000 10 28 0 0 1 0 0 ARL9 132946 broad.mit.edu 37 4 57384864 57384864 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:57384864C>T ENST00000360096.2 + 3 351 c.37C>T c.(37-39)Cgg>Tgg p.R13W NM_206919.1 NP_996802.1 Q6T311 ARL9_HUMAN ADP-ribosylation factor-like 9 77 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) TAAACCTTTTCGGTCCTACTG 0.483000 33 66 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625434 31625434 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:31625434C>T ENST00000349552.1 + 8 736 c.736C>T c.(736-738)Cct>Tct p.P246S NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 246 extracellular region lipid binding CCTCACGTTCCCTGAGGGTTA 0.577000 28 70 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81833809 81833809 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81833809C>T ENST00000550584.2 - 6 882 c.587G>A c.(586-588)aGg>aAg p.R196K PPFIA2_ENST00000548586.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R43K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R178K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R122K|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R196K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R178K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 122 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAAAGAAACCCTCAGTCGCTC 0.408000 21 36 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5771568 5771568 + Missense_Mutation SNP T T A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:5771568T>A ENST00000324331.6 + 7 1598 c.1262T>A c.(1261-1263)aTg>aAg p.M421K FARS2_ENST00000274680.4_Missense_Mutation_p.M421K O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 421 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TACCGCCACATGGAACGGACT 0.587000 99 63 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212286826 212286826 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:212286826C>T ENST00000342788.4 - 24 3180 c.2870G>A c.(2869-2871)tGg>tAg p.W957* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.W947*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.W957* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 957 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCAATCATCCAACCTGGAAA 0.353000 TSP Lung(8;0.080) 9 30 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141032134 141032134 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141032134G>A ENST00000389484.3 - 85 13972 c.13001C>T c.(13000-13002)tCa>tTa p.S4334L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4334 EGF-like 13. 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) AATGGTACATGATTCAGAATT 0.403000 TSP Lung(27;0.18) 17 35 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27311744 27311744 + Missense_Mutation SNP C C T rs140923137 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:27311744C>T ENST00000397501.1 + 34 3477 c.2669C>T c.(2668-2670)gCc>gTc p.A890V PTK2B_ENST00000420218.2_Missense_Mutation_p.A848V|PTK2B_ENST00000517339.1_Missense_Mutation_p.A848V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A890V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A848V|PTK2B_ENST00000544172.1_Missense_Mutation_p.A890V NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 890 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTGGTGCGGGCCGTGCTGGAG 0.637000 22 11 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301096 11301096 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:11301096C>T ENST00000397056.1 + 3 564 c.373C>T c.(373-375)Cgc>Tgc p.R125C HRH1_ENST00000438284.2_Missense_Mutation_p.R125C|HRH1_ENST00000431010.2_Missense_Mutation_p.R125C NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 125 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GTGCATTGATCGCTACCGCTC 0.552000 80 103 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012589 29012589 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29012589G>A ENST00000377175.1 - 1 428 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122G(1)|p.R122S(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GCTGTAAAACGATCATAGGAC 0.398000 16 82 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427621 5427621 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:5427621G>A ENST00000399537.4 - 5 2182 c.1834C>T c.(1834-1836)Ccc>Tcc p.P612S TNRC18_ENST00000430969.1_Missense_Mutation_p.P612S O15417 TNC18_HUMAN trinucleotide repeat containing 18 612 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCTCCAAAGGGGCTCTTCTTG 0.672000 3 2 0 0 1 0 0 MAPK12 6300 broad.mit.edu 37 22 50693725 50693725 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50693725G>A ENST00000215659.8 - 11 1240 c.925C>T c.(925-927)Ccc>Tcc p.P309S MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.P219S NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 309 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGAAGTAGGGATGGGCCAGC 0.617000 33 90 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913034 6913034 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:6913034C>T ENST00000299459.2 - 1 796 c.698G>A c.(697-699)gGg>gAg p.G233E NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTTGAGACTCCCCACAGTTGA 0.428000 29 41 0 0 1 0 0 GPR19 2842 broad.mit.edu 37 12 12815066 12815066 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:12815066G>A ENST00000540510.1 - 2 509 c.317C>T c.(316-318)tCc>tTc p.S106F GPR19_ENST00000332427.2_Missense_Mutation_p.S106F Q15760 GPR19_HUMAN G protein-coupled receptor 19 106 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) ACATGCCATGGAGACCACAAA 0.522000 18 29 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97081303 97081303 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:97081303G>A ENST00000253262.4 - 7 1735 c.1715C>T c.(1714-1716)tCc>tTc p.S572F NUTM2F_ENST00000341207.4_Missense_Mutation_p.S557F|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F AGGGTCTTCGGACCTGGCCAT 0.657000 14 8 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21169793 21169793 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21169793G>A ENST00000377122.4 - 5 806 c.410C>T c.(409-411)tCa>tTa p.S137L NEBL_ENST00000377119.1_Missense_Mutation_p.S137L|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 137 KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCATAATCTGAGAATCCTTT 0.403000 34 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179456708 179456708 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179456708G>A ENST00000589042.1 - 302 60147 c.59923C>T c.(59923-59925)Ctc>Ttc p.L19975F TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10910F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L18334F|TTN_ENST00000342992.6_Missense_Mutation_p.L17407F|TTN_ENST00000342175.6_Missense_Mutation_p.L11102F|TTN_ENST00000359218.5_Missense_Mutation_p.L11035F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18334 Fibronectin type-III 44. 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) AACTTACGGAGAGGATCCAAA 0.413000 13 8 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36367910 36367910 + Nonsense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36367910C>T ENST00000373204.4 + 11 1582 c.1369C>T c.(1369-1371)Caa>Taa p.Q457* AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q382* NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CTTCGCACCCCAAAAACAGTG 0.567000 17 35 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21309087 21309087 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21309087C>T ENST00000417816.2 - 3 561 c.208G>A c.(208-210)Gaa>Aaa p.E70K NEBL_ENST00000377159.4_Missense_Mutation_p.E36K NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette 734 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CGAAGATTTTCAGGTGTATCT 0.408000 23 63 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7457038 7457038 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7457038C>T ENST00000399422.4 + 1 159 c.111C>T c.(109-111)gaC>gaT p.D37D NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 37 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CTCTTGCTGACTTTGAAGCCA 0.483000 24 77 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186338525 186338525 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:186338525C>T ENST00000411641.2 + 7 1129 c.910C>T c.(910-912)Cct>Tct p.P304S AHSG_ENST00000273784.5_Missense_Mutation_p.P305S P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 304 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) ACTGGCAGCTCCTCCAGGACA 0.647000 60 123 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149357343 149357343 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:149357343G>A ENST00000355292.3 - 2 1032 c.670C>T c.(670-672)Cca>Tca p.P224S NR3C2_ENST00000512865.1_Missense_Mutation_p.P224S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P224S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P224S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P224S|NR3C2_ENST00000342437.4_Missense_Mutation_p.P224S P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 224 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTGTGCACTGGAAAACTGCCA 0.542000 13 11 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28671063 28671063 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28671063C>T ENST00000280904.6 - 4 845 c.402G>A c.(400-402)aaG>aaA p.K134K DSC2_ENST00000251081.6_Silent_p.K134K NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 134 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCCATCTTCTCTTGGCGCGCC 0.388000 24 16 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205495565 205495565 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:205495565C>T ENST00000360066.2 + 7 943 c.642C>T c.(640-642)tcC>tcT p.S214S CDK18_ENST00000429964.2_Silent_p.S214S|CDK18_ENST00000506784.1_Silent_p.S244S|CDK18_ENST00000509056.1_3'UTR NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 212 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CAGATCGGTCCCTCACCCTGG 0.592000 45 79 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138413121 138413121 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:138413121C>T ENST00000409968.1 + 22 4174 c.3996C>T c.(3994-3996)gtC>gtT p.V1332V THSD7B_ENST00000413152.2_Silent_p.V1304V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1335V thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGCATGGTCCACAGTGGTT 0.493000 5 12 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62039782 62039782 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62039782C>T ENST00000354587.3 - 16 2071 c.1895G>A c.(1894-1896)gGg>gAg p.G632E KCNQ2_ENST00000344462.3_Missense_Mutation_p.G620E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G596E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G632E|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G593E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G624E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G606E|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G594E|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G624E O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 624 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CTCCACCTTCCCGAGCCGTCC 0.716000 7 6 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60786733 60786733 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60786733C>T ENST00000313421.7 + 13 2136 c.1950C>T c.(1948-1950)ccC>ccT p.P650P CD6_ENST00000452451.2_Silent_p.P574P|CD6_ENST00000352009.5_Silent_p.P583P|CD6_ENST00000344028.5_Silent_p.P618P|CD6_ENST00000346437.4_Silent_p.P577P NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 650 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CAGGGTCCCCCAGCCCTCAGC 0.642000 8 17 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810336 167810336 + Silent SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:167810336T>C ENST00000357154.3 - 7 680 c.543A>G c.(541-543)ggA>ggG p.G181G SPOCK3_ENST00000511531.1_Silent_p.G181G|SPOCK3_ENST00000535728.1_Silent_p.G89G|SPOCK3_ENST00000510741.1_Silent_p.G178G|SPOCK3_ENST00000541354.1_Silent_p.G61G|SPOCK3_ENST00000534949.1_Silent_p.G85G|SPOCK3_ENST00000512648.1_Silent_p.G178G|SPOCK3_ENST00000357545.4_Silent_p.G178G|SPOCK3_ENST00000541637.1_Silent_p.G83G|SPOCK3_ENST00000506886.1_Silent_p.G181G|SPOCK3_ENST00000504953.1_Silent_p.G178G|SPOCK3_ENST00000502330.1_Silent_p.G181G|SPOCK3_ENST00000421836.2_Silent_p.G130G|SPOCK3_ENST00000511269.1_Silent_p.G178G|SPOCK3_ENST00000512681.1_Silent_p.G83G|SPOCK3_ENST00000507137.1_5'UTR NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 181 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) ATGGGCAATGTCCTTCACATT 0.333000 32 66 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90086768 90086768 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:90086768G>A ENST00000405460.2 + 70 14218 c.14122G>A c.(14122-14124)Gga>Aga p.G4708R GPR98_ENST00000425867.2_Missense_Mutation_p.G369R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4708 Calx-beta 32. 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) CATTGCTGATGGAGAGAGTGA 0.393000 36 53 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68950487 68950487 + Missense_Mutation SNP C C T rs138740482 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:68950487C>T ENST00000288368.4 + 7 1076 c.799C>T c.(799-801)Ctt>Ttt p.L267F PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 267 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.L267F(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTGTTTTTTCTTTTCGATAA 0.408000 24 3 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113360 94113360 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:94113360C>T ENST00000243673.2 - 4 1398 c.1227G>A c.(1225-1227)ggG>ggA p.G409G GPR83_ENST00000539203.2_Silent_p.G367G NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 409 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGTCTGTCTTCCCAGACTGGA 0.572000 15 25 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860656 26860656 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:26860656G>A ENST00000398145.2 - 11 1556 c.940C>T c.(940-942)Cct>Tct p.P314S HPS4_ENST00000398141.1_Missense_Mutation_p.P327S|HPS4_ENST00000336873.5_Missense_Mutation_p.P314S|HPS4_ENST00000402105.3_Missense_Mutation_p.P309S NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 314 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GCTTCGTCAGGGGATGTGGGA 0.592000 Hermansky-Pudlak syndrome 26 84 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400284 90400284 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:90400284C>T ENST00000337338.5 + 3 2064 c.1657C>T c.(1657-1659)Cct>Tct p.P553S LRRC8D_ENST00000394593.3_Missense_Mutation_p.P553S NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 553 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GGCTGAAATTCCTGCCTGGGT 0.433000 25 55 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037210 129037210 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:129037210G>A ENST00000274487.4 + 20 3211 c.3066G>A c.(3064-3066)ggG>ggA p.G1022G ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1022 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACTGCATTGGGCCCAAGCCCG 0.582000 14 33 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784717 9784717 + Missense_Mutation SNP A A G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:9784717A>G ENST00000304374.2 + 1 1460 c.1064A>G c.(1063-1065)aAc>aGc p.N355S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 355 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCCTCACTCAACCCCGTCATC 0.627000 28 51 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806552 33806552 + Missense_Mutation SNP T T C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33806552T>C ENST00000260908.7 - 2 794 c.677A>G c.(676-678)aAc>aGc p.N226S SLFN12L_ENST00000449046.1_Missense_Mutation_p.N257S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.N255S NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 258 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 AGTCGAGAAGTTTTTTATTTC 0.343000 17 32 0 0 1 0 0 HOXD9 3235 broad.mit.edu 37 2 176987716 176987716 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:176987716G>A ENST00000249499.6 + 1 629 c.220G>A c.(220-222)Gtg>Atg p.V74M HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 74 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAGATCGGCCGTGTTCTCTGC 0.761000 3 19 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469542 131469542 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:131469542C>T ENST00000291906.4 + 6 1086 c.693C>T c.(691-693)ctC>ctT p.L231L NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 231 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AACTGGACCTCCTGCGCCTGG 0.652000 4 13 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132534888 132534888 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:132534888C>T ENST00000333577.4 + 41 7438 c.7329C>T c.(7327-7329)ctC>ctT p.L2443L EP400_ENST00000330386.6_Silent_p.L2326L|EP400_ENST00000332482.4_Silent_p.L2370L|EP400_ENST00000389561.2_Silent_p.L2407L|EP400_ENST00000389562.2_Silent_p.L2406L Q96L91 EP400_HUMAN E1A binding protein p400 2443 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACCGTCCTCTCCGTACGAGCC 0.517000 40 68 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72623842 72623842 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:72623842C>T ENST00000273951.8 - 7 1091 c.748G>A c.(748-750)Gat>Aat p.D250N GC_ENST00000513476.1_Missense_Mutation_p.D250N|GC_ENST00000504199.1_Missense_Mutation_p.D269N|GC_ENST00000503472.1_5'UTR NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 250 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGCAAAACATCCTCCAGATCA 0.378000 41 60 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814278 123814278 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123814278G>A ENST00000321252.2 - 1 302 c.268C>T c.(268-270)Cac>Tac p.H90Y NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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) GAGATGGTGTGATCCCCCGTG 0.493000 17 47 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178410006 178410006 + Missense_Mutation SNP C C T rs62638625 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:178410006C>T ENST00000231188.5 - 9 2519 c.2341G>A c.(2341-2343)Gag>Aag p.E781K GRM6_ENST00000517717.1_Missense_Mutation_p.E781K|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 781 E -> K (in CSNB1B). detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCTTGGCCTCGTTGAAGGTC 0.582000 29 48 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666123 20666123 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20666123G>A ENST00000357366.3 + 1 629 c.629G>A c.(628-630)aGg>aAg p.R210K NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGTGGATCTAGGATTATTGAC 0.443000 19 19 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119213613 119213613 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:119213613C>T ENST00000555262.1 - 10 1384 c.1225G>A c.(1225-1227)Gcc>Acc p.A409T MFRP_ENST00000449574.2_Missense_Mutation_p.A409T|MFRP_ENST00000530681.1_Missense_Mutation_p.A409T|MFRP_ENST00000360167.4_Silent_p.Q333Q|C1QTNF5_ENST00000445041.2_5'UTR NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AGGTAGGTGGCTGAGAAGCCT 0.622000 9 15 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79190715 79190715 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:79190715G>A ENST00000282003.6 - 6 1239 c.1181C>T c.(1180-1182)tCc>tTc p.S394F RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 394 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GCAACTAAGGGACAAAGGAGT 0.428000 23 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064314 9064314 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9064314G>A ENST00000397910.4 - 3 23335 c.23132C>T c.(23131-23133)cCc>cTc p.P7711L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7713 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 GGGAGAGGGGGGGATATGTGC 0.542000 26 34 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99569423 99569423 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:99569423C>T ENST00000411734.1 - 2 279 c.274G>A c.(274-276)Gac>Aac p.D92N AZGP1_ENST00000292401.4_Missense_Mutation_p.D95N P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 95 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) ATAAAGATGTCCTCCCTGGCC 0.507000 37 61 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854101 40854101 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40854101C>T ENST00000254691.5 + 3 2866 c.2667C>T c.(2665-2667)tcC>tcT p.S889S CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 889 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TAAGAACATCCCATATTGGAA 0.488000 34 52 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102555649 102555649 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:102555649C>T ENST00000251808.3 + 2 539 c.201C>T c.(199-201)ctC>ctT p.L67L GRHL2_ENST00000395927.1_Silent_p.L51L NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 67 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCGGCCTGCTCTATGACTACT 0.527000 21 58 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419171 37419171 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:37419171G>A ENST00000374660.1 + 3 306 c.207G>A c.(205-207)ctG>ctA p.L69L ANKRD30A_ENST00000361713.1_Silent_p.L69L|ANKRD30A_ENST00000602533.1_Silent_p.L69L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 125 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 CAAATATTCTGATAGATTCTG 0.348000 23 53 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43308638 43308638 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:43308638C>T ENST00000328249.3 + 9 1931 c.893C>T c.(892-894)tCt>tTt p.S298F RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Missense_Mutation_p.S388F|RP11-342M1.2_ENST00000416809.2_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.S388F|RP11-342M1.4_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 388 B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane p.S388F(1) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CACAATTTCTCTGGCCCCCTT 0.453000 35 76 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33136833 33136833 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:33136833G>A ENST00000375030.2 + 19 1985 c.1367G>A c.(1366-1368)aGg>aAg p.R456K C10orf68_ENST00000375025.4_Missense_Mutation_p.R561K|C10orf68_ENST00000375028.3_Missense_Mutation_p.R501K Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 497 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACACAACTAAGGACTCACTAT 0.303000 34 46 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806826 2806826 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:2806826C>T ENST00000602557.1 - 69 10955 c.10400G>A c.(10399-10401)aGg>aAg p.R3467K CSMD1_ENST00000400186.3_Missense_Mutation_p.R3290K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3290K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3289K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3466K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3467K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3467 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTACCTTGCCTTTCTAGCTT 0.343000 12 9 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61034972 61034972 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:61034972G>A ENST00000335613.5 - 16 2313 c.1927C>T c.(1927-1929)Ccg>Tcg p.P643S VWCE_ENST00000535710.1_Missense_Mutation_p.P108S NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 643 VWFC 5. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGCACAGACGGGAAGGTCTCG 0.597000 28 59 0 0 1 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80203735 80203735 + Missense_Mutation SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:80203735G>A ENST00000450142.2 - 10 1561 c.1295C>T c.(1294-1296)tCt>tTt p.S432F PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S432F|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S432F|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S345F|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S432F NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 432 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 AGTTGCAGGAGACTCATCTTT 0.368000 5 12 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176271 63176271 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63176271C>T ENST00000279178.3 + 9 1770 c.1521C>T c.(1519-1521)ttC>ttT p.F507F SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 507 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TCTTCCCCTTCATCTCTGGCT 0.493000 24 54 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825195 8825195 + Silent SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:8825195C>T ENST00000359865.3 + 15 3829 c.3687C>T c.(3685-3687)ggC>ggT p.G1229G SOGA2_ENST00000400050.3_Silent_p.G1188G|SOGA2_ENST00000306285.7_Silent_p.G554G|SOGA2_ENST00000518815.1_Silent_p.G554G|SOGA2_ENST00000306329.11_Silent_p.G1548G|SOGA2_ENST00000517570.1_Silent_p.G1188G NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1539 CCAAGGGAGGCCCTCCAGAAC 0.677000 16 19 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82586179 82586179 + Missense_Mutation SNP C C T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82586179C>T ENST00000423517.2 - 5 4427 c.4090G>A c.(4090-4092)Gga>Aga p.G1364R PCLO_ENST00000333891.8_Missense_Mutation_p.G1364R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1295 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAAGAATATCCCGTGTCGCTC 0.423000 14 17 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41174000 41174000 + Silent SNP G G A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41174000G>A ENST00000252891.4 - 10 1370 c.1203C>T c.(1201-1203)gcC>gcT p.A401A NUMBL_ENST00000598779.1_Silent_p.A360A|NUMBL_ENST00000540131.1_Silent_p.A360A NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 401 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CAGGCTGGAAGGCAGCTGCAG 0.657000 3 5 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50229182 50229188 + Frame_Shift_Del DEL GGAGAAG GGAGAAG - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:50229182_50229188delGGAGAAG ENST00000232461.3 + 1 138_144 c.24_30delGGAGAAG c.(22-30)gafs p.EEK8fs GNAT1_ENST00000433068.1_Frame_Shift_Del_p.EEK8fs NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 8 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCAGTGCTGAGGAGAAGCACTCCAGGG 0.623 7 38 --- --- --- --- CNOT6L 246175 broad.mit.edu 37 4 78697453 78697453 + Frame_Shift_Del DEL T T - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:78697453delT ENST00000504123.1 - 2 229 c.99delA c.(97-99)aafs p.K33fs CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Frame_Shift_Del_p.K33fs Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 33 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CCCAGTGAGATTTTTTCCCAT 0.373 80 133 --- --- --- --- C5orf42 65250 broad.mit.edu 37 5 37170213 37170222 + Frame_Shift_Del DEL GGCTCTCTGG GGCTCTCTGG - rs141413425 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:37170213_37170222delGGCTCTCTGG ENST00000274258.7 - 33 6610_6619 c.3023_3032delCCAGAGAGCC c.(3022-3033)gtfs p.AREP1008fs C5orf42_ENST00000508244.1_Frame_Shift_Del_p.AREP2128fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.AREP2128fs E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2128 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GTTCTTGCGAGGCTCTCTGGCGTTCTCTCC 0.410 41 144 --- --- --- --- LCP2 3937 broad.mit.edu 37 5 169695439 169695439 + Frame_Shift_Del DEL G G - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:169695439delG ENST00000046794.5 - 8 1186 c.571delC c.(571-573)agfs p.Q191fs NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 191 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) ATCGGTCTCTGGGGGGGCACA 0.607 OREG0017023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MDFIC 29969 broad.mit.edu 37 7 114562638 114562639 + In_Frame_Ins INS - - GAG TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:114562638_114562639insGAG ENST00000257724.3 + 1 430_431 c.167_168insGAG c.(166-168)aag>aGAGag p.56_56K>RE MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 0 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 CCGGGGCggaagaggaggagga 0.703 OREG0003787 type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 13 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155503962 155503970 + In_Frame_Del DEL GCAGCCGCT GCAGCCGCT - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:155503962_155503970delGCAGCCGCT ENST00000401878.3 + 8 1212_1220 c.1014_1022delGCAGCCGCT c.(1012-1023)ccg>cc p.PQPL338del RBM33_ENST00000486747.1_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 338 Pro-rich. nucleotide binding|RNA binding p.P340P(2) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGTTCCAGCCGCAGCCGCTGCAGCCGCTG 0.646 10 45 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692885 89692886 + Frame_Shift_Ins INS - - TG rs121909223 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:89692885_89692886insTG ENST00000371953.3 + 5 1726_1727 c.369_370insTG c.(367-372)cagtaafs p.Q*123fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 123 Phosphatase tensin-type. H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C124S(3)|p.C124fs*10(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.C124R(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAGCAATTCACTGTAAAGCTGG 0.406 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 95 140 --- --- --- --- RP11-58E21.5 0 broad.mit.edu 37 14 50519464 50519465 + RNA DEL AC AC - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:50519464_50519465delAC ENST00000556019.2 - 0 186 gcacacacagacacacacacac 0.495 2 4 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3717754 3717754 + Frame_Shift_Del DEL T T - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3717754delT ENST00000158149.3 - 13 1544 c.649delA c.(649-651)gafs p.R217fs C17orf85_ENST00000389005.4_Frame_Shift_Del_p.R497fs Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 497 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GAATGTGGTCTTTTTCCTAAC 0.507 15 20 --- --- --- --- FLCN 201163 broad.mit.edu 37 17 17127428 17127428 + Frame_Shift_Del DEL G G - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:17127428delG ENST00000285071.4 - 6 880 c.426delC c.(424-426)ttfs p.F143fs FLCN_ENST00000389169.5_Frame_Shift_Del_p.F143fs|RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 143 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATCTCCGAAGAAGATGGGGC 0.572 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome 3 3 --- --- --- --- CPD 1362 broad.mit.edu 37 17 28706062 28706064 + In_Frame_Del DEL CTG CTG - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28706062_28706064delCTG ENST00000225719.4 + 1 140_142 c.64_66delCTG c.(64-66)del p.L25del NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 25 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GCTCATGTGCCTGCTGCTGCTGG 0.729 2 4 --- --- --- --- DUSP3 1845 broad.mit.edu 37 17 41852248 41852248 + Frame_Shift_Del DEL C C - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:41852248delC ENST00000226004.3 - 2 247 c.184delG c.(184-186)cgfs p.A63fs DUSP3_ENST00000397937.2_Frame_Shift_Del_p.A22fs NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 63 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) CCCTCAGCCGCGTTCAGCACA 0.547 56 115 --- --- --- --- BCAS3 54828 broad.mit.edu 37 17 59465991 59465992 + Frame_Shift_Ins INS - - A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:59465991_59465992insA ENST00000589222.1 + 25 2740_2741 c.2672_2673insA c.(2671-2673)gaafs p.E891fs BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000390652.5_Intron Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AAAAAAAAAGGAAAAAAAAAAC 0.431 5 4 --- --- --- --- GLTSCR2 29997 broad.mit.edu 37 19 48254316 48254316 + Frame_Shift_Del DEL C C - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:48254316delC ENST00000246802.5 + 4 588 c.550delC c.(550-552)ccfs p.P184fs GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 184 RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CAAGCCCGGGCCCCAGGACAC 0.657 2 4 --- --- --- --- ATRN 8455 broad.mit.edu 37 20 3526472 3526473 + Frame_Shift_Ins INS - - G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:3526472_3526473insG ENST00000262919.5 + 4 740_741 c.672_673insG c.(670-675)ggatgcfs p.C225fs ATRN_ENST00000446916.2_Frame_Shift_Ins_p.C225fs NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 225 CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CCACATCAGGTTATGCCTTGCT 0.381 25 50 --- --- --- --- MAPK8IP2 23542 broad.mit.edu 37 22 51041769 51041771 + In_Frame_Del DEL GAG GAG - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:51041769_51041771delGAG ENST00000329492.3 + 3 406_408 c.289_291delGAG c.(289-291)del p.E103del MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000399912.1_5'UTR NM_012324.3 NP_036456.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 103 Asp/Glu-rich (acidic). behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding p.E97delE(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ggacgaggaagaggaggaggagg 0.631 3 3 --- --- --- ---