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 TBC1D1 23216 broad.mit.edu 37 4 38016200 38016200 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:38016200C>T ENST00000261439.4 + 3 843 c.488C>T c.(487-489)tCc>tTc p.S163F TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 163 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CACTGCCCGTCCGAGTTCGAC 0.622000 41 68 0 0 0.00222228 0 0 PPRC1 23082 broad.mit.edu 37 10 103907120 103907120 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:103907120C>T ENST00000278070.2 + 9 4410 c.4371C>T c.(4369-4371)tcC>tcT p.S1457S PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.S424S|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1457 Arg-rich.|Ser-rich. 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) GGTCCAGGTCCCTCTCCCCCC 0.547000 20 28 0 0 0.00229938 0 0 OR2A5 393046 broad.mit.edu 37 7 143747527 143747527 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143747527C>T ENST00000408906.2 + 1 67 c.33C>T c.(31-33)ttC>ttT p.F11F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCACAGAATTCATTCTCCTGG 0.502000 28 68 0 0 0.00209593 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899636 156899636 + Missense_Mutation SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:156899636T>A ENST00000311946.7 + 6 1185 c.1069T>A c.(1069-1071)Ttc>Atc p.F357I ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F338I NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 357 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TTCCCTGGTGTTCCCCATCTA 0.542000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 72 0 0 0.00178596 0 0 LRIG3 121227 broad.mit.edu 37 12 59272618 59272618 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:59272618G>A ENST00000320743.3 - 14 2357 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L LRIG3_ENST00000379141.4_Silent_p.L631L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 691 Ig-like C2-type 2. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) AGGACAGTCAGAGTTGCATTT 0.423000 T ROS1 NSCLC 23 53 0 0 0.00332997 0 0 CACNA1C 775 broad.mit.edu 37 12 2742834 2742834 + Missense_Mutation SNP A A C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:2742834A>C ENST00000406454.3 + 30 3868 c.3868A>C c.(3868-3870)Atc>Ctc p.I1290L CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I1310L|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I1290L Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1310 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) TGACTTCCTCATCGTAATTGG 0.458000 28 75 0 0 0.00283554 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16872745 16872745 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:16872745G>A ENST00000355661.3 - 8 699 c.689C>T c.(688-690)tCc>tTc p.S230F PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S230F|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S230F Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 230 PH. 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 TACCTTAAAGGAATATTTGCG 0.507000 20 36 0 0 0.00332997 0 0 OR1A1 8383 broad.mit.edu 37 17 3119772 3119772 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:3119772C>T ENST00000304094.1 + 1 858 c.858C>T c.(856-858)ttC>ttT p.F286F NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TAAATCCTTTCATCTACAGTC 0.473000 28 69 0 0 0.00127121 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21448671 21448671 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:21448671C>T ENST00000307378.6 - 11 1851 c.1131G>A c.(1129-1131)atG>atA p.M377I SLCO1A2_ENST00000452078.1_Missense_Mutation_p.M377I|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.M375I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.M245I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.M245I NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 377 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TGAACTTCTTCATAATTAAAC 0.289000 8 21 0 0 0.000673444 0 0 CSMD2 114784 broad.mit.edu 37 1 34285384 34285384 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:34285384G>A ENST00000373381.4 - 9 1430 c.1254C>T c.(1252-1254)tcC>tcT p.S418S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 378 CUB 3. 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) TGATCCGCTTGGACCCTTGCA 0.607000 14 24 0 0 0.00316338 0 0 RHBG 57127 broad.mit.edu 37 1 156348077 156348077 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:156348077C>T ENST00000400992.2 + 4 832 c.464C>T c.(463-465)aCc>aTc p.T155I RHBG_ENST00000368249.1_Missense_Mutation_p.T187I|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.T187I|RHBG_ENST00000451864.2_Missense_Mutation_p.T155I|RHBG_ENST00000255013.3_Missense_Mutation_p.T118I Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 187 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) ACTATCCACACCTTTGGTGCC 0.647000 32 65 0 0 0.00428921 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265106 67265106 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67265106G>A ENST00000356404.3 - 13 2052 c.1827C>T c.(1825-1827)ccC>ccT p.P609P PITPNM1_ENST00000436757.2_Silent_p.P609P|PITPNM1_ENST00000534749.1_Silent_p.P609P NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 609 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 CATCTGCCAGGGGGTCCCGCA 0.622000 22 47 0 0 0.00332997 0 0 TTN 7273 broad.mit.edu 37 2 179577529 179577529 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179577529C>T ENST00000589042.1 - 94 27447 c.27223G>A c.(27223-27225)Gaa>Aaa p.E9075K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7831K|TTN_ENST00000591111.1_Missense_Mutation_p.E8758K|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8758 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) AACTCCAGTTCAGCAACTGAA 0.428000 15 26 0 0 0.00316338 0 0 TRIM36 55521 broad.mit.edu 37 5 114499263 114499263 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:114499263G>A ENST00000513154.1 - 2 540 c.214C>T c.(214-216)Cgg>Tgg p.R72W TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R84W|TRIM36_ENST00000514154.1_Intron Q9NQ86 TRI36_HUMAN tripartite motif containing 36 84 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.R84W(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GAGGGGAGCCGAAGTCGAGGA 0.443000 23 53 0 0 0.000878237 0 0 CUL9 23113 broad.mit.edu 37 6 43153772 43153772 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:43153772C>T ENST00000252050.4 + 4 914 c.830C>T c.(829-831)cCa>cTa p.P277L CUL9_ENST00000372647.2_Missense_Mutation_p.P277L|CUL9_ENST00000354495.3_Missense_Mutation_p.P277L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 277 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 AATAGCAGTCCAGAGCTGGGA 0.552000 15 35 0 0 0.00316338 0 0 MME 4311 broad.mit.edu 37 3 154878182 154878182 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154878182G>A ENST00000460393.1 + 17 1725 c.1605G>A c.(1603-1605)tgG>tgA p.W535* MME_ENST00000492661.1_Nonsense_Mutation_p.W535*|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Nonsense_Mutation_p.W535*|MME_ENST00000493237.1_Nonsense_Mutation_p.W535*|MME_ENST00000462745.1_Nonsense_Mutation_p.W535* NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 535 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCTACAGGTGGATAAGTGGAG 0.323000 73 207 0 0 0.00361006 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800500 28800500 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:28800500C>T ENST00000373839.3 + 7 1519 c.1258C>T c.(1258-1260)Cga>Tga p.R420* PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.R430* NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 420 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCATATTCGAATCCAGCA 0.512000 28 51 0 0 0.00106085 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318902 79318902 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:79318902G>A ENST00000428286.1 - 9 7750 c.6550C>T c.(6550-6552)Cgt>Tgt p.R2184C PRUNE2_ENST00000376718.3_Missense_Mutation_p.R2543C Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2543 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGTGCATGACGATCTTCATTC 0.363000 73 67 0 0 0.00361006 0 0 ANK3 288 broad.mit.edu 37 10 61835570 61835570 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61835570G>A ENST00000280772.1 - 37 5260 c.5069C>T c.(5068-5070)tCa>tTa p.S1690L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1690 Ser-rich. 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 TTTGGCTGATGAAATGACATC 0.408000 20 39 0 0 0.00152264 0 0 CLEC3A 10143 broad.mit.edu 37 16 78062059 78062059 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:78062059C>T ENST00000299642.4 + 2 283 c.198C>T c.(196-198)gcC>gcT p.A66A RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.A57A NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 57 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 AAGTCAATGCCTTGAAGGAAA 0.478000 19 43 0 0 0.000958276 0 0 FRG1 2483 broad.mit.edu 37 4 190876288 190876288 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:190876288G>A ENST00000226798.4 + 5 636 c.414G>A c.(412-414)tgG>tgA p.W138* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 138 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAGAACAATGGGAACCAGTCT 0.348000 6 104 0 0 0.00307968 0 0 BRWD3 254065 broad.mit.edu 37 X 79985494 79985494 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:79985494C>T ENST00000373275.4 - 13 1369 c.1153G>A c.(1153-1155)Gat>Aat p.D385N NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 385 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GCCGTTCCATCTCGACTTCCA 0.303000 11 8 0 0 0.000978159 0 0 KPRP 448834 broad.mit.edu 37 1 152733215 152733215 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152733215C>T ENST00000368773.1 + 2 1209 c.1151C>T c.(1150-1152)cCa>cTa p.P384L KPRP_ENST00000606109.1_Missense_Mutation_p.P384L NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 384 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTTCTGTCCACCACGGCGT 0.637000 9 31 0 0 0.000442599 0 0 ZMYND12 84217 broad.mit.edu 37 1 42898933 42898933 + Missense_Mutation SNP G G A rs143355029 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:42898933G>A ENST00000372565.3 - 7 1125 c.856C>T c.(856-858)Cgc>Tgc p.R286C ZMYND12_ENST00000433602.2_Missense_Mutation_p.R176C|ZMYND12_ENST00000475426.1_5'UTR NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 286 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTCAGGATGCGAATGGCTTCT 0.448000 64 104 0 0 0.00361006 0 0 VNN2 8875 broad.mit.edu 37 6 133072331 133072331 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:133072331C>T ENST00000326499.6 - 5 1277 c.1153G>A c.(1153-1155)Gga>Aga p.G385R VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.G332R NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 385 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTAAAAGCTCCTAGAACGTAT 0.378000 32 60 0 0 0.00209593 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275872 98275872 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:98275872C>T ENST00000289228.5 - 4 474 c.258G>A c.(256-258)atG>atA p.M86I NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 86 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 AGATGCGTTCCATGTCGTTCC 0.647000 59 108 0 0 0.00361006 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963740 148963740 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:148963740G>A ENST00000434415.1 + 2 502 c.339G>A c.(337-339)ctG>ctA p.L113L NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 113 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AGAGGCGGCTGGAGAATGTGG 0.647000 21 65 0 0 0.00332997 0 0 CBLN2 147381 broad.mit.edu 37 18 70205589 70205589 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:70205589C>T ENST00000269503.4 - 5 1270 c.497G>A c.(496-498)gGc>gAc p.G166D CBLN2_ENST00000584764.1_Missense_Mutation_p.G50D|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Missense_Mutation_p.G166D|CBLN2_ENST00000581073.1_Missense_Mutation_p.G52D NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 166 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CACTGGGTAGCCATTCTGCAT 0.502000 23 53 0 0 0.000720815 0 0 NBEA 26960 broad.mit.edu 37 13 35731359 35731359 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:35731359G>A ENST00000400445.3 + 21 3330 c.2796G>A c.(2794-2796)tgG>tgA p.W932* NBEA_ENST00000379939.2_Nonsense_Mutation_p.W932*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W932*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.W932* NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 932 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) AATATGAATGGGGAGGCTGGA 0.383000 27 33 0 0 0.00395357 0 0 ERLIN1 10613 broad.mit.edu 37 10 101937916 101937916 + Missense_Mutation SNP A A C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:101937916A>C ENST00000421367.2 - 4 2985 c.278T>G c.(277-279)gTg>gGg p.V93G ERLIN1_ENST00000407654.3_Missense_Mutation_p.V93G NM_001100626.1|NM_006459.3 NP_001094096.1|NP_006450.2 O75477 ERLN1_HUMAN ER lipid raft associated 1 91 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) CATATTAACCACTTCTATTCG 0.358000 3 8 0 0 6.4e-05 0 0 BAI1 575 broad.mit.edu 37 8 143570778 143570778 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:143570778C>G ENST00000517894.1 + 16 3504 c.2610C>G c.(2608-2610)atC>atG p.I870M BAI1_ENST00000323289.5_Missense_Mutation_p.I870M O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 870 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 p.I870I(1) 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) CCTTGGAGATCGAGTTTGCCC 0.567000 16 40 0 0 0.00316338 0 0 MIR329-2 574409 broad.mit.edu 37 14 101493453 101493453 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:101493453G>A ENST00000385029.1 + 0 17 NR_029968.1 CCTGAAGAGAGGTTTTCTGGG 0.453000 19 50 0 0 0.00188189 0 0 GPR113 165082 broad.mit.edu 37 2 26534617 26534617 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:26534617C>T ENST00000333478.6 - 8 1964 c.1382G>A c.(1381-1383)cGa>cAa p.R461Q GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R591Q|GPR113_ENST00000541401.1_Missense_Mutation_p.R263Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R660Q NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 660 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGTTTTCGCAGCACCAG 0.547000 5 9 0 0 0.00116845 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353257 42353257 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:42353257G>A ENST00000269945.3 + 6 739 c.688G>A c.(688-690)Gga>Aga p.G230R DMRTC2_ENST00000596827.1_Missense_Mutation_p.G230R NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 230 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CACCTGCCCAGGATCTCACCC 0.567000 51 69 0 0 0.00361006 0 0 NLRP14 338323 broad.mit.edu 37 11 7063624 7063624 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7063624G>A ENST00000299481.4 + 4 713 c.367G>A c.(367-369)Gga>Aga p.G123R NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 123 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CTTAGGTGATGGAACAGAATA 0.343000 26 44 0 0 0.00127121 0 0 CD226 10666 broad.mit.edu 37 18 67531653 67531653 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:67531653G>A ENST00000280200.4 - 7 1176 c.908C>T c.(907-909)cCc>cTc p.P303L CD226_ENST00000581982.1_Missense_Mutation_p.P148L|CD226_ENST00000582621.1_Missense_Mutation_p.P303L|CD226_ENST00000577287.1_Missense_Mutation_p.P148L NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 303 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) GGTAGAGATGGGACTTCTATA 0.388000 14 37 0 0 0.00244969 0 0 ASXL3 80816 broad.mit.edu 37 18 31311945 31311945 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:31311945G>A ENST00000269197.5 + 9 893 c.893G>A c.(892-894)gGa>gAa p.G298E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 298 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 GGAAGTGATGGAATTTTACGC 0.388000 21 51 0 0 0.00278032 0 0 RAB40B 10966 broad.mit.edu 37 17 80616413 80616413 + Missense_Mutation SNP G G A rs142445256 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:80616413G>A ENST00000538809.2 - 5 433 c.368C>T c.(367-369)tCg>tTg p.S123L RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571995.1_Silent_p.I173I Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCAGCAGCACGATCCTGGCCA 0.657000 45 29 0 0 0.00361006 0 0 FAM115C 285966 broad.mit.edu 37 7 143417118 143417118 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143417118C>T ENST00000441159.2 + 3 1032 c.966C>T c.(964-966)agC>agT p.S322S FAM115C_ENST00000425618.2_Silent_p.S41S|FAM115C_ENST00000411935.1_Silent_p.S158S|FAM115C_ENST00000411497.2_Silent_p.S41S|FAM115C_ENST00000357344.4_Silent_p.S322S|FAM115C_ENST00000444908.2_Silent_p.S322S|FAM115C_ENST00000409703.3_Silent_p.S158S A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 322 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 TGCAATGCAGCCTGGAGCCCC 0.572000 11 52 0 0 0.00400662 0 0 DHX37 57647 broad.mit.edu 37 12 125465048 125465048 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:125465048G>A ENST00000308736.2 - 4 824 c.726C>T c.(724-726)tcC>tcT p.S242S DHX37_ENST00000544745.1_Silent_p.S29S NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 242 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCATTTCCGGGGAGCGGTTCA 0.642000 18 23 0 0 0.000958276 0 0 FOXI1 2299 broad.mit.edu 37 5 169533456 169533456 + Silent SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:169533456C>G ENST00000449804.2 + 1 540 c.495C>G c.(493-495)gcC>gcG p.A165A FOXI1_ENST00000306268.6_Silent_p.A165A NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 165 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGCAAGGCCGGCTGGCAGA 0.612000 Pendred syndrome 5 11 0 0 0.00116845 0 0 LIPI 149998 broad.mit.edu 37 21 15524928 15524928 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:15524928G>A ENST00000344577.2 - 8 1172 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* LIPI_ENST00000536861.1_Nonsense_Mutation_p.Q362* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 362 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATTCCAAGCTGATTTAATAAT 0.284000 8 23 0 0 0.000442599 0 0 MYLK3 91807 broad.mit.edu 37 16 46766545 46766545 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:46766545C>T ENST00000394809.4 - 4 1152 c.1037G>A c.(1036-1038)gGg>gAg p.G346E MYLK3_ENST00000536476.1_Missense_Mutation_p.G5E NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 346 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CAGCATCTCCCCAGGAGTATC 0.607000 11 17 0 0 0.00136819 0 0 SLC6A12 6539 broad.mit.edu 37 12 306045 306045 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:306045G>A ENST00000428720.1 - 11 1822 c.1079C>T c.(1078-1080)cCt>cTt p.P360L SLC6A12_ENST00000424061.2_Missense_Mutation_p.P360L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P360L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P360L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P360L NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 360 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) GGCCAGCCCAGGACCTGCCAG 0.577000 15 25 0 0 0.00316338 0 0 DCDC1 341019 broad.mit.edu 37 11 30928159 30928159 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:30928159G>A ENST00000597505.1 - 28 4031 c.4032C>T c.(4030-4032)ttC>ttT p.F1344F DCDC1_ENST00000339794.5_Silent_p.F423F|DCDC1_ENST00000406071.2_Silent_p.F79F 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) AAATACAGAGGAATGGAACCC 0.463000 5 15 0 0 0.00116845 0 0 SCN11A 11280 broad.mit.edu 37 3 38888327 38888327 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38888327C>T ENST00000450244.1 - 26 5432 c.5234G>A c.(5233-5235)cGa>cAa p.R1745Q SCN11A_ENST00000456224.3_Missense_Mutation_p.R1707Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1745Q Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1745 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATGTACTTTCGAAAGGCCTT 0.458000 32 73 0 0 0.00327116 0 0 ACTN4 81 broad.mit.edu 37 19 39214875 39214875 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:39214875C>T ENST00000252699.2 + 15 1847 c.1771C>T c.(1771-1773)Cac>Tac p.H591Y ACTN4_ENST00000424234.2_Missense_Mutation_p.H201Y|ACTN4_ENST00000390009.3_Missense_Mutation_p.H372Y NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 591 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTGGCCATCCACAAGGAGGC 0.617000 10 31 0 0 0.000442599 0 0 HPS1 3257 broad.mit.edu 37 10 100185627 100185627 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:100185627G>A ENST00000325103.6 - 12 1336 c.1103C>T c.(1102-1104)aCc>aTc p.T368I HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.T368I NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 368 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.T368I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCAGTACATGGTGTGGGGCAC 0.612000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 67 0 0 0.000720815 0 0 OR4N4 283694 broad.mit.edu 37 15 22382687 22382687 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22382687C>T ENST00000328795.4 + 1 306 c.215C>T c.(214-216)tCc>tTc p.S72F RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 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) CTGGATGCATCCTACTCCTTC 0.483000 33 141 0 0 0.00195071 0 0 STAP1 26228 broad.mit.edu 37 4 68472054 68472054 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:68472054G>A ENST00000265404.2 + 9 949 c.867G>A c.(865-867)aaG>aaA p.K289K STAP1_ENST00000396225.1_Silent_p.K289K NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 289 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 AAAAGTTGAAGAAAAATCCAC 0.328000 11 20 0 0 0.00136819 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870954 51870954 + Silent SNP G G T rs45562541 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:51870954G>T ENST00000371497.5 + 2 1844 c.957G>T c.(955-957)ccG>ccT p.P319P TSHZ2_ENST00000603338.2_Silent_p.P316P|TSHZ2_ENST00000329613.6_Silent_p.P316P NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 319 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) TGGTCACCCCGGCTAAGAAAC 0.458000 23 59 2.21704e-12 5.11212e-12 0.00278032 1 0 OR5D18 219438 broad.mit.edu 37 11 55587134 55587134 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55587134G>A ENST00000333976.4 + 1 49 c.29G>A c.(28-30)gGg>gAg p.G10E NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 10 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) AATACAAGTGGGACCACGTTC 0.423000 23 20 0 0 0.00278032 0 0 NBAS 51594 broad.mit.edu 37 2 15493708 15493708 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:15493708A>G ENST00000281513.5 - 34 4083 c.4058T>C c.(4057-4059)cTt>cCt p.L1353P NBAS_ENST00000441750.1_Missense_Mutation_p.L1233P NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1353 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGCTGCCAAAAGAAGTTCAAT 0.473000 34 84 0 0 0.00283554 0 0 TAS1R1 80835 broad.mit.edu 37 1 6634815 6634815 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:6634815G>A ENST00000333172.6 + 3 816 c.623G>A c.(622-624)tGg>tAg p.W208* TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.W208* NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 208 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AAGTTCGGGTGGACCTGGATC 0.587000 14 23 0 0 0.00244969 0 0 MASP1 5648 broad.mit.edu 37 3 186943152 186943152 + Silent SNP G G A rs147189329 by1000genomes TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:186943152G>A ENST00000337774.5 - 13 2090 c.1701C>T c.(1699-1701)ttC>ttT p.F567F NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 567 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGGGCATCACGAAGGCATTCA 0.582000 48 57 0 0 0.00361006 0 0 KAT6A 7994 broad.mit.edu 37 8 41792152 41792152 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:41792152G>A ENST00000396930.3 - 18 4129 c.3586C>T c.(3586-3588)Cct>Tct p.P1196S KAT6A_ENST00000265713.2_Missense_Mutation_p.P1196S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1196S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1196 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CCAGCTTTAGGAATGGAAACG 0.483000 38 76 0 0 0.00148497 0 0 PKD2L1 9033 broad.mit.edu 37 10 102051114 102051114 + Missense_Mutation SNP G G A rs115252223 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:102051114G>A ENST00000318222.3 - 12 2333 c.1951C>T c.(1951-1953)Cgt>Tgt p.R651C PKD2L1_ENST00000338519.3_Missense_Mutation_p.R576C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R651C NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 651 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCAGAATACGATTCCCATCT 0.498000 22 49 0 0 0.00229938 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630351 51630351 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:51630351C>T ENST00000440804.3 + 4 880 c.813C>T c.(811-813)gtC>gtT p.V271V SIGLEC9_ENST00000250360.3_Silent_p.V271V NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 271 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGCGCCTGGTCTGTGCAGTTG 0.577000 26 68 0 0 0.00127121 0 0 TSGA10 80705 broad.mit.edu 37 2 99725409 99725409 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:99725409G>A ENST00000393483.3 - 7 941 c.97C>T c.(97-99)Cgt>Tgt p.R33C TSGA10_ENST00000355053.4_Missense_Mutation_p.R33C|TSGA10_ENST00000539964.1_Missense_Mutation_p.R33C|TSGA10_ENST00000410001.1_Missense_Mutation_p.R33C|TSGA10_ENST00000542655.1_Missense_Mutation_p.R33C|TSGA10_ENST00000478090.1_5'UTR NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 33 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AGTTCTTCACGATCTCTTGTT 0.343000 12 31 0 0 0.00136819 0 0 CDS1 1040 broad.mit.edu 37 4 85530642 85530642 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:85530642G>A ENST00000295887.5 + 3 729 c.306G>A c.(304-306)ctG>ctA p.L102L NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 102 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.L102L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TGTTTTTCCTGATCATCTATA 0.343000 25 72 0 0 0.000878237 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112693 148112693 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:148112693G>A ENST00000361727.3 + 24 4497 c.3981G>A c.(3979-3981)aaG>aaA p.K1327K CNTNAP2_ENST00000538075.1_Silent_p.K386K|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1327 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) AAAGCAAAAAGGAATGGCTCA 0.522000 HNSCC(39;0.1) 19 31 0 0 0.000958276 0 0 TMEM132D 121256 broad.mit.edu 37 12 130015650 130015650 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:130015650G>A ENST00000422113.2 - 3 1395 c.1069C>T c.(1069-1071)Cca>Tca p.P357S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 357 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) ATGACAGCTGGTGCATACTTT 0.512000 27 44 0 0 0.00395357 0 0 CCKAR 886 broad.mit.edu 37 4 26483391 26483391 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:26483391G>A ENST00000295589.3 - 5 1350 c.1156C>T c.(1156-1158)Ccc>Tcc p.P386S NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 386 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) GGGCAGCAGGGGAAGGTGGCC 0.617000 19 70 0 0 0.00121646 0 0 NFKB2 4791 broad.mit.edu 37 10 104157399 104157399 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:104157399C>T ENST00000369966.3 + 8 868 c.618C>T c.(616-618)tcC>tcT p.S206S NFKB2_ENST00000428099.1_Silent_p.S206S|NFKB2_ENST00000189444.6_Silent_p.S206S NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 206 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GCTCCTTCTCCCTGCCCCTGA 0.577000 T IGH@ B-NHL 37 115 0 0 0.00148497 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079140 15079140 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:15079140C>T ENST00000598504.1 - 6 1882 c.523G>A c.(523-525)Gct>Act p.A175T SLC1A6_ENST00000600144.1_Missense_Mutation_p.A175T|SLC1A6_ENST00000544886.2_Missense_Mutation_p.A175T|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.A175T NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 175 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AAGGCATCAGCTGTGGGGATG 0.507000 4 14 0 0 0.00024832 0 0 OR2J3 442186 broad.mit.edu 37 6 29080239 29080239 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:29080239C>T ENST00000377169.1 + 1 572 c.572C>T c.(571-573)tCg>tTg p.S191L NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S191*(1)|p.S191L(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CTGCGATTATCGTGTGTTGAT 0.458000 12 29 0 0 0.00136819 0 0 CYP2C18 1562 broad.mit.edu 37 10 96495020 96495020 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:96495020G>A ENST00000285979.6 + 9 1491 c.1291_splice c.e9-1 p.G431_splice CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Splice_Site_p.G372_splice NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TTATTTTCAGGAAAACGGATG 0.408000 20 39 0 0 0.00188189 0 0 OR14C36 127066 broad.mit.edu 37 1 248512862 248512862 + Silent SNP G G A rs143199703 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248512862G>A ENST00000317861.1 + 1 786 c.786G>A c.(784-786)gcG>gcA p.A262A NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A262A(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GGCCACCTGCGATACCTGCAG 0.463000 35 76 0 0 0.000953801 0 0 NEB 4703 broad.mit.edu 37 2 152497000 152497000 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:152497000C>T ENST00000427231.2 - 61 8756 c.8554G>A c.(8554-8556)Gtg>Atg p.V2852M NEB_ENST00000603639.1_Missense_Mutation_p.V2852M|NEB_ENST00000409198.1_Missense_Mutation_p.V2852M|NEB_ENST00000172853.10_Missense_Mutation_p.V2852M|NEB_ENST00000604864.1_Missense_Mutation_p.V2852M|NEB_ENST00000397345.3_Missense_Mutation_p.V2852M NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2852 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) GCCAGCACCACCCCCAGCATG 0.562000 90 163 0 0 0.00361006 0 0 SPTBN2 6712 broad.mit.edu 37 11 66458762 66458762 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:66458762C>T ENST00000533211.1 - 27 5889 c.5558G>A c.(5557-5559)aGc>aAc p.S1853N SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1853N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1853N O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1853 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GACCTGGGGGCTGAGGGCCTG 0.647000 31 83 0 0 0.00375469 0 0 TRAV30 28652 broad.mit.edu 37 14 22636742 22636742 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22636742C>T ENST00000557168.1 + 0 195 CACCCGTCTTCCTGATGATAT 0.453000 18 23 0 0 0.00229938 0 0 GPCPD1 56261 broad.mit.edu 37 20 5548169 5548169 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:5548169G>A ENST00000379019.4 - 13 1399 c.1187C>T c.(1186-1188)cCa>cTa p.P396L GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 396 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TTCTTTTACTGGAATTTCAAA 0.249000 32 71 0 0 0.00375469 0 0 OR8J1 219477 broad.mit.edu 37 11 56128428 56128428 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:56128428A>G ENST00000303039.3 + 1 738 c.706A>G c.(706-708)Aaa>Gaa p.K236E NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) AGGAAGGAAAAAAGCCTTTTC 0.353000 22 50 0 0 0.00152264 0 0 FERMT3 83706 broad.mit.edu 37 11 63978105 63978105 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:63978105C>T ENST00000279227.5 + 3 278 c.183C>T c.(181-183)gaC>gaT p.D61D FERMT3_ENST00000345728.5_Silent_p.D61D NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 61 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 ACTGGTCAGACCATGCTATTT 0.612000 29 86 0 0 0.00428921 0 0 LIN7A 8825 broad.mit.edu 37 12 81205420 81205420 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:81205420T>G ENST00000552864.1 - 5 728 c.526A>C c.(526-528)Aag>Cag p.K176Q NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 176 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TTAGCAGCCTTGAGTAGTTCC 0.478000 21 47 0 0 0.00278032 0 0 NPTX2 4885 broad.mit.edu 37 7 98257757 98257757 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:98257757G>A ENST00000265634.3 + 5 1277 c.1112G>A c.(1111-1113)gGg>gAg p.G371E NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 371 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCATTTGTCGGGGAGCTCAGC 0.572000 5 7 0 0 0.00116845 0 0 ZNF653 115950 broad.mit.edu 37 19 11596514 11596514 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:11596514G>A ENST00000293771.5 - 7 1663 c.1527C>T c.(1525-1527)ttC>ttT p.F509F CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TGGATAAATAGAACTTCTTGC 0.577000 44 74 0 0 0.00361006 0 0 XPO5 57510 broad.mit.edu 37 6 43536447 43536447 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:43536447C>T ENST00000265351.7 - 6 859 c.e6+1 NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGAGCTCTTACCTTTGACTCC 0.423000 15 59 0 0 0.00074312 0 0 MIR1253 100302208 broad.mit.edu 37 17 2651399 2651399 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:2651399G>A ENST00000408273.1 - 0 77 NR_031654.1 ATCCCAAAGGGGAGAAGATCA 0.483000 4 26 0 0 0.00116845 0 0 KCNK13 56659 broad.mit.edu 37 14 90650916 90650916 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:90650916C>T ENST00000282146.4 + 2 1237 c.796C>T c.(796-798)Ctc>Ttc p.L266F NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 266 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CGTCTTCATCCTCATGGGTGT 0.517000 22 66 0 0 0.00278032 0 0 FBXO11 80204 broad.mit.edu 37 2 48050434 48050434 + Silent SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:48050434A>G ENST00000403359.3 - 12 1536 c.1464T>C c.(1462-1464)gcT>gcC p.A488A FBXO11_ENST00000316377.4_Silent_p.A404A|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Silent_p.A404A NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 488 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGTAGGGTTAGCATAGGCTT 0.363000 """Mis, F, D""" DLBCL 14 23 0 0 0.00185496 0 0 KLRC2 3822 broad.mit.edu 37 12 10587979 10587979 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:10587979G>A ENST00000381902.2 - 2 224 c.218C>T c.(217-219)gCc>gTc p.A73V KLRC2_ENST00000536833.2_Missense_Mutation_p.A14V|KLRC2_ENST00000381901.1_Missense_Mutation_p.A73V|NKG2-E_ENST00000539033.1_Missense_Mutation_p.A73V NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 73 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TAGGACCTCGGCAGTGAGCTT 0.428000 52 244 0 0 0.00361006 0 0 NDST1 3340 broad.mit.edu 37 5 149914541 149914541 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:149914541C>T ENST00000261797.6 + 5 1711 c.1209C>T c.(1207-1209)tcC>tcT p.S403S NDST1_ENST00000523767.1_Silent_p.S403S NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 403 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAACCAGTCCGTGTTGGCCG 0.592000 10 22 0 0 0.000442599 0 0 SPTA1 6708 broad.mit.edu 37 1 158612330 158612330 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:158612330C>T ENST00000368148.3 - 33 4788 c.4608G>A c.(4606-4608)agG>agA p.R1536R SPTA1_ENST00000368147.3_Silent_p.R1536R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1536 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) TCAGGTATTTCCTCTGAAGGG 0.393000 9 55 0 0 0.000274275 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33408710 33408710 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:33408710C>T ENST00000418600.2 + 11 1982 c.1881C>T c.(1879-1881)gcC>gcT p.A627A SYNGAP1_ENST00000293748.5_Silent_p.A627A|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.A568A NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 627 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCCTCATTGCCAAGGTCATCC 0.602000 7 18 0 0 0.00198382 0 0 DNAH5 1767 broad.mit.edu 37 5 13811764 13811764 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:13811764G>A ENST00000265104.4 - 44 7503 c.7399C>T c.(7399-7401)Cct>Tct p.P2467S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2467 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) ACCTTCAGAGGAATCAGGCCT 0.403000 Kartagener syndrome 15 33 0 0 0.000566183 0 0 OR4K15 81127 broad.mit.edu 37 14 20443908 20443908 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:20443908C>T ENST00000305051.5 + 1 306 c.231C>T c.(229-231)tcC>tcT p.S77S NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTCAGATTCCCGCCTTCACA 0.433000 40 74 0 0 0.00285205 0 0 CSE1L 1434 broad.mit.edu 37 20 47705915 47705915 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:47705915C>T ENST00000262982.2 + 18 2076 c.1953C>T c.(1951-1953)atC>atT p.I651I CSE1L_ENST00000396192.3_Silent_p.I595I|CSE1L_ENST00000542325.1_Silent_p.I434I NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 651 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTACTGAAATCTTACAAAATG 0.343000 10 24 0 0 0.000673444 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41721867 41721867 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:41721867C>T ENST00000352645.4 + 4 487 c.230C>T c.(229-231)cCc>cTc p.P77L ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P77L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 77 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 GTGGCCCTGCCCCGGGAGCTG 0.592000 4 10 0 0 0.00024832 0 0 LIMK2 3985 broad.mit.edu 37 22 31655116 31655116 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:31655116G>A ENST00000331728.4 + 4 376 c.262G>A c.(262-264)Gag>Aag p.E88K LIMK2_ENST00000340552.4_Missense_Mutation_p.E67K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.E10K|LIMK2_ENST00000333611.4_Missense_Mutation_p.E67K NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 88 LIM zinc-binding 2. 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 GGTGGCTGGGGAGTTCAAGTA 0.547000 21 35 0 0 0.00395357 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361478 105361478 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:105361478G>A ENST00000297581.2 + 2 747 c.698G>A c.(697-699)cGa>cAa p.R233Q DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R233Q NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 233 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTCATGAAGCGATTTTTGGGC 0.498000 31 63 0 0 0.001512 0 0 HDLBP 3069 broad.mit.edu 37 2 242195761 242195761 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:242195761G>A ENST00000391975.1 - 7 938 c.711C>T c.(709-711)atC>atT p.I237I HDLBP_ENST00000310931.4_Silent_p.I237I|HDLBP_ENST00000391976.2_Silent_p.I237I|HDLBP_ENST00000427183.2_Silent_p.I273I NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 237 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACGGCCCAGCGATGAAGGGGT 0.517000 13 52 0 0 0.00244969 0 0 TRIM71 131405 broad.mit.edu 37 3 32932942 32932942 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:32932942C>T ENST00000383763.4 + 4 2309 c.2246C>T c.(2245-2247)tCc>tTc p.S749F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 749 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACTTTGACTCCCCACGGGGT 0.582000 11 19 0 0 0.00185496 0 0 NBPF9 400818 broad.mit.edu 37 1 144816614 144816614 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:144816614C>T ENST00000440491.2 + 5 747 c.747C>T c.(745-747)gtC>gtT p.V249V NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.V249V|NBPF9_ENST00000281815.8_5'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 AAGACAAAGTCGACTCAACTC 0.448000 70 158 0 0 0.00361006 0 0 CPNE4 131034 broad.mit.edu 37 3 131261456 131261456 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:131261456C>T ENST00000512055.1 - 19 3610 c.1484G>A c.(1483-1485)gGa>gAa p.G495E CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E Q96A23 CPNE4_HUMAN copine IV 495 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AACAGGCTCTCCCTTGGGTGA 0.517000 14 63 0 0 0.00244969 0 0 LRP6 4040 broad.mit.edu 37 12 12315233 12315233 + Nonsense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:12315233C>A ENST00000261349.4 - 10 2249 c.2173G>T c.(2173-2175)Gga>Tga p.G725* LRP6_ENST00000543091.1_Nonsense_Mutation_p.G725* NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 725 Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CGATTCGTTCCTGTGTCTGCC 0.507000 10 609 0.000978159 0.00222442 0.000978159 1 0 MYO18A 399687 broad.mit.edu 37 17 27445449 27445449 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:27445449G>A ENST00000527372.1 - 9 2019 c.1839C>T c.(1837-1839)ctC>ctT p.L613L MYO18A_ENST00000533112.1_Silent_p.L613L|MYO18A_ENST00000531253.1_Silent_p.L613L|MYO18A_ENST00000354329.4_Silent_p.L613L NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 613 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGTTGAGGTGGAGCTCTGTCC 0.592000 6 11 0 0 0.00198382 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679618 160679618 + Missense_Mutation SNP C C T rs138397321 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:160679618C>T ENST00000366952.1 - 3 1590 c.109G>A c.(109-111)Gag>Aag p.E37K SLC22A2_ENST00000366953.3_Missense_Mutation_p.E58K|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 58 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AGACTCAGCTCGGCCACTCCG 0.672000 13 43 0 0 0.00185496 0 0 GPR112 139378 broad.mit.edu 37 X 135427792 135427792 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:135427792G>A ENST00000394143.1 + 6 2218 c.1927G>A c.(1927-1929)Gat>Aat p.D643N GPR112_ENST00000412101.1_Missense_Mutation_p.D438N|GPR112_ENST00000394141.1_Missense_Mutation_p.D438N|GPR112_ENST00000287534.4_Missense_Mutation_p.D580N|GPR112_ENST00000370652.1_Missense_Mutation_p.D643N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 643 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) ATCCACAACTGATGAAGCTGC 0.498000 28 14 0 0 0.00209593 0 0 BAGE2 85319 broad.mit.edu 37 21 11039058 11039058 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:11039058C>T ENST00000470054.1 - 0 1145 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) TCCATCAATCCAGTAGAAAGT 0.398000 8 272 0 0 0.000274275 0 0 COL6A2 1292 broad.mit.edu 37 21 47549380 47549380 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:47549380C>T ENST00000357838.4 + 28 2814 c.2732C>T c.(2731-2733)cCc>cTc p.P911L COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.P911L|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 0 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GTGGGGGACCCCGAGACCGCG 0.692000 5 18 0 0 0.00116845 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423239 107423239 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:107423239C>T ENST00000409382.3 - 6 2095 c.1485G>A c.(1483-1485)ctG>ctA p.L495L ST6GAL2_ENST00000361686.4_Silent_p.L495L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 495 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity 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 TGCCCATGTTCAGGCGCTGCA 0.612000 25 46 0 0 0.000720815 0 0 CCKBR 887 broad.mit.edu 37 11 6292024 6292024 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:6292024G>A ENST00000525462.1 + 4 805 c.802G>A c.(802-804)Ggg>Agg p.G268R CCKBR_ENST00000334619.2_Missense_Mutation_p.G268R|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G184R P32239 GASR_HUMAN cholecystokinin B receptor 219 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AAACCAAGGCGGGCTGCCAGG 0.632000 14 24 0 0 0.00074312 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455651 50455651 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:50455651C>T ENST00000447370.2 - 9 1742 c.1651_splice c.e9-1 p.G551_splice SIGLEC11_ENST00000426971.2_Splice_Site_p.W455_splice|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 551 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) CTCCAGCTTCCCTGCATGGGA 0.637000 17 24 0 0 0.00400662 0 0 SPINK5 11005 broad.mit.edu 37 5 147488359 147488359 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:147488359G>A ENST00000359874.3 + 18 1724 c.1651G>A c.(1651-1653)Ggg>Agg p.G551R SPINK5_ENST00000256084.7_Missense_Mutation_p.G551R|SPINK5_ENST00000398454.1_Missense_Mutation_p.G551R NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 551 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) agaagaaaaagggaaagtcga 0.363000 21 56 0 0 0.00188189 0 0 PDCD1 5133 broad.mit.edu 37 2 242793385 242793385 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:242793385C>T ENST00000334409.5 - 5 761 c.692G>A c.(691-693)cGa>cAa p.R231Q NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 231 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GGTCTTCTCTCGCCACTGGAA 0.627000 16 25 0 0 0.00316338 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919293 130919293 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:130919293C>T ENST00000261655.4 - 11 2351 c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K RIMBP2_ENST00000535703.1_Missense_Mutation_p.E638K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E638K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 730 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTGCCAAGTTCAGAGCCTTTC 0.662000 43 71 0 0 0.00361006 0 0 EDN3 1908 broad.mit.edu 37 20 57876515 57876515 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:57876515C>T ENST00000311585.7 + 2 473 c.103C>T c.(103-105)Cag>Tag p.Q35* EDN3_ENST00000395654.3_Nonsense_Mutation_p.Q35*|EDN3_ENST00000371025.3_Nonsense_Mutation_p.Q35*|EDN3_ENST00000371028.2_Nonsense_Mutation_p.Q35*|EDN3_ENST00000337938.2_Nonsense_Mutation_p.Q35* NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 35 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CGGCGTGTCCCAGGCCCCCAC 0.662000 7 19 0 0 0.000274275 0 0 NFIC 4782 broad.mit.edu 37 19 3434309 3434309 + Silent SNP C C T rs112569402 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:3434309C>T ENST00000589123.1 + 5 837 c.717C>T c.(715-717)tcC>tcT p.S239S NFIC_ENST00000395111.3_Silent_p.S239S|NFIC_ENST00000586919.1_Silent_p.S215S|NFIC_ENST00000443272.2_Silent_p.S248S|NFIC_ENST00000346156.5_Silent_p.S215S|NFIC_ENST00000341919.3_Silent_p.S248S|NFIC_ENST00000590282.1_Silent_p.S248S NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 248 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCAACTTCTCCCTGGGGGAGC 0.612000 19 30 0 0 0.000958276 0 0 FILIP1 27145 broad.mit.edu 37 6 76022919 76022919 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:76022919C>T ENST00000393004.2 - 5 2850 c.2629G>A c.(2629-2631)Gaa>Aaa p.E877K FILIP1_ENST00000237172.7_Missense_Mutation_p.E877K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E778K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 877 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GGGCCGTTTTCCCTCTTTCTC 0.522000 24 48 0 0 0.00278032 0 0 NAV1 89796 broad.mit.edu 37 1 201752716 201752716 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:201752716C>T ENST00000367296.4 + 7 2960 c.2540C>T c.(2539-2541)cCc>cTc p.P847L NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.P847L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.P456L|NAV1_ENST00000367297.4_Missense_Mutation_p.P847L|NAV1_ENST00000295624.6_Missense_Mutation_p.P847L|NAV1_ENST00000367302.1_Missense_Mutation_p.P860L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 847 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGTCCGGCACCCATCCTCAAT 0.557000 47 215 0 0 0.00321405 0 0 MTMR8 55613 broad.mit.edu 37 X 63574714 63574714 + Silent SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:63574714C>G ENST00000374852.3 - 4 478 c.411G>C c.(409-411)ggG>ggC p.G137G MTMR8_ENST00000453546.1_Silent_p.G137G NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 137 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TTCCCATACGCCCAAAGTCTG 0.378000 15 8 0 0 0.00316338 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110394709 110394709 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:110394709C>T ENST00000378402.5 + 4 430 c.326C>T c.(325-327)tCc>tTc p.S109F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 109 IPT/TIG 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCGGAAGATTCCTACACTGTT 0.398000 HNSCC(38;0.096) 29 74 0 0 0.001512 0 0 GALNT2 2590 broad.mit.edu 37 1 230400986 230400986 + Splice_Site SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:230400986G>T ENST00000366672.4 + 14 1385 c.e14-1 GALNT2_ENST00000541865.1_Splice_Site|GALNT2_ENST00000485438.1_Splice_Site|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Splice_Site NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TTGTTTTTCAGGGTTCCAGAC 0.527000 29 56 7.53681e-25 1.7512e-24 0.00106085 1 0 FRYL 285527 broad.mit.edu 37 4 48545929 48545929 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:48545929G>A ENST00000358350.4 - 44 6091 c.5487C>T c.(5485-5487)tcC>tcT p.S1829S FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.S1829S|FRYL_ENST00000503238.1_Silent_p.S1829S NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 1829 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AAATCTGAAAGGATCTCCCAG 0.453000 17 26 0 0 0.000566183 0 0 LTBP3 4054 broad.mit.edu 37 11 65309086 65309086 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:65309086G>A ENST00000301873.5 - 19 2978 c.2710C>T c.(2710-2712)Cag>Tag p.Q904* LTBP3_ENST00000536982.1_Nonsense_Mutation_p.Q530*|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.Q334*|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.Q904* NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 904 EGF-like 9; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CAACCGTGCTGGTCCTGGGTG 0.632000 4 51 0 0 0.00024832 0 0 CYP2E1 1571 broad.mit.edu 37 10 135351392 135351392 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:135351392C>T ENST00000463117.2 + 10 1565 c.1293C>T c.(1291-1293)tcC>tcT p.S431S SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.S431S P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 431 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) AGCCATTTTCCACAGGTGAGA 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 14 19 0 0 0.00316338 0 0 SLC6A19 340024 broad.mit.edu 37 5 1214133 1214133 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:1214133C>T ENST00000304460.10 + 6 896 c.840C>T c.(838-840)tcC>tcT p.S280S NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 280 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTCCTTCTCCCTGGCCTTCG 0.637000 20 62 0 0 0.00229938 0 0 AGO4 192670 broad.mit.edu 37 1 36292380 36292380 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:36292380G>A ENST00000373210.3 + 7 1037 c.792G>A c.(790-792)caG>caA p.Q264Q NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 ACTGTGGACAGATGAAACGAA 0.343000 7 16 0 0 0.000274275 0 0 MS4A1 931 broad.mit.edu 37 11 60233400 60233400 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:60233400G>A ENST00000534668.1 + 5 632 c.343G>A c.(343-345)Gga>Aga p.G115R MS4A1_ENST00000345732.4_Missense_Mutation_p.G115R|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115R|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115R|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 115 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TCAGGTCAAAGGAAAAATGAT 0.343000 6 29 0 0 0.00198382 0 0 AKR1C2 1646 broad.mit.edu 37 10 5042756 5042756 + Missense_Mutation SNP G G A rs139521690 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:5042756G>A ENST00000380753.4 - 3 542 c.355C>T c.(355-357)Cca>Tca p.P119S AKR1C2_ENST00000421196.3_Missense_Mutation_p.P119S|AKR1C2_ENST00000407674.1_Missense_Mutation_p.P119S|AKR1C2_ENST00000455190.1_Missense_Mutation_p.P119S NM_205845.2 NP_995317.1 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 119 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) ACAGACACTGGAAAATGAATA 0.378000 17 33 0 0 0.00152264 0 0 SVEP1 79987 broad.mit.edu 37 9 113170678 113170678 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:113170678C>T ENST00000401783.2 - 38 7538 c.7202G>A c.(7201-7203)gGa>gAa p.G2401E SVEP1_ENST00000297826.5_Missense_Mutation_p.G327E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2378E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2401 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GACAGTACTTCCAAAATGAAG 0.458000 13 12 0 0 0.00244969 0 0 XPO5 57510 broad.mit.edu 37 6 43536448 43536448 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:43536448C>T ENST00000265351.7 - 6 858 c.648_splice c.e6+1 p.K216_splice NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 216 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GAGCTCTTACCTTTGACTCCT 0.423000 15 57 0 0 0.00074312 0 0 TRPM6 140803 broad.mit.edu 37 9 77377626 77377626 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:77377626C>T ENST00000451710.3 - 26 4198 c.3961G>A c.(3961-3963)Gaa>Aaa p.E1321K TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1321K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1316K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1321K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1316K Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1321 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTTTGTGTTTCTTGCCTTTCC 0.473000 52 79 0 0 0.00361006 0 0 METTL13 51603 broad.mit.edu 37 1 171761261 171761261 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:171761261C>T ENST00000361735.3 + 6 1845 c.1579C>T c.(1579-1581)Ccc>Tcc p.P527S METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.P526S|METTL13_ENST00000367737.5_Missense_Mutation_p.P371S|METTL13_ENST00000362019.3_Missense_Mutation_p.P441S NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 527 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GGAGATCGATCCCTCCATGTT 0.567000 32 89 0 0 0.00209593 0 0 OR1N2 138882 broad.mit.edu 37 9 125316390 125316390 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:125316390G>A ENST00000373688.2 + 1 1000 c.942G>A c.(940-942)atG>atA p.M314I NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 314 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 ACAGAGACATGAAGGAGGCTT 0.408000 18 18 0 0 0.00074312 0 0 PAPPA 5069 broad.mit.edu 37 9 119158841 119158841 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:119158841C>T ENST00000328252.3 + 22 5199 c.4830C>T c.(4828-4830)gaC>gaT p.D1610D PAPPA_ENST00000534838.1_Silent_p.D648D|PAPPA_ENST00000483254.1_3'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1610 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 CTTGTCGGGACCCCCAGGCCC 0.517000 25 40 0 0 0.000878237 0 0 MLLT4 4301 broad.mit.edu 37 6 168281154 168281154 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:168281154A>T ENST00000366806.2 + 6 996 c.854A>T c.(853-855)tAt>tTt p.Y285F MLLT4_ENST00000447894.2_Missense_Mutation_p.Y285F|MLLT4_ENST00000344191.4_Missense_Mutation_p.Y285F|MLLT4_ENST00000392108.3_Missense_Mutation_p.Y285F|MLLT4_ENST00000351017.4_Missense_Mutation_p.Y285F|MLLT4_ENST00000400822.3_Missense_Mutation_p.Y284F|MLLT4_ENST00000392112.1_Missense_Mutation_p.Y284F P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 285 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTAGAGAAGTATGGTCTGGAA 0.378000 T MLL AL 62 116 0 0 0.00361006 0 0 ZNF394 84124 broad.mit.edu 37 7 99091874 99091874 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:99091874G>A ENST00000337673.6 - 3 1167 c.964C>T c.(964-966)Cac>Tac p.H322Y ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 322 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GTCACCATGTGGAAACTTTGC 0.517000 32 34 0 0 0.00327116 0 0 HELQ 113510 broad.mit.edu 37 4 84376745 84376745 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:84376745G>A ENST00000295488.3 - 1 264 c.102C>T c.(100-102)ctC>ctT p.L34L HELQ_ENST00000510985.1_Silent_p.L34L|HELQ_ENST00000440639.2_5'UTR NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 34 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTCCGGGCACGAGCTCGGCCG 0.617000 Other identified genes with known or suspected DNA repair function OREG0016254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 102 0 0 0.00170553 0 0 MC3R 4159 broad.mit.edu 37 20 54824426 54824426 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:54824426G>A ENST00000243911.2 + 1 639 c.527G>A c.(526-528)gGc>gAc p.G176D NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 213 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) GGCGTCTGTGGCGTGGTGTTC 0.562000 26 53 0 0 0.000878237 0 0 C1orf173 127254 broad.mit.edu 37 1 75038901 75038901 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:75038901G>A ENST00000326665.5 - 14 2711 c.2493C>T c.(2491-2493)atC>atT p.I831I C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 831 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 TGCCTGGAGGGATCTCCCTTT 0.572000 19 42 0 0 0.000958276 0 0 ITPR2 3709 broad.mit.edu 37 12 26868318 26868318 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:26868318C>T ENST00000381340.3 - 8 1185 c.769G>A c.(769-771)Gag>Aag p.E257K NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 257 MIR 3. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGTTTTTTCTCATATTCATCA 0.393000 21 69 0 0 0.00152264 0 0 LOC645752 645752 broad.mit.edu 37 15 78211452 78211452 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:78211452C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CTCGGATCATCTCCTCCTGCT 0.577000 40 68 0 0 0.00111076 0 0 DEFB112 245915 broad.mit.edu 37 6 50011425 50011425 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:50011425C>T ENST00000322246.4 - 2 204 c.205G>A c.(205-207)Gaa>Aaa p.E69K NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 69 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) ATCCTAAATTCACTATCATCA 0.438000 17 43 0 0 0.000958276 0 0 GABRR3 200959 broad.mit.edu 37 3 97744496 97744496 + RNA SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:97744496A>G ENST00000472788.1 - 0 154 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 TGGTACTGTCATCTTTCTTCA 0.398000 8 21 0 0 0.000274275 0 0 TNNI3K 51086 broad.mit.edu 37 1 74701140 74701140 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:74701140G>A ENST00000326637.3 + 1 56 c.5G>A c.(4-6)gGa>gAa p.G2E FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron NM_015978.2 NP_057062.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TAATAAATGGGAAATTATAAA 0.303000 35 63 0 0 0.00195071 0 0 CYTIP 9595 broad.mit.edu 37 2 158300433 158300433 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:158300433G>A ENST00000264192.3 - 1 221 c.100C>T c.(100-102)Ctt>Ttt p.L34F CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 34 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCCATCGTAAGGCTGCCGGTG 0.498000 30 53 0 0 0.00209593 0 0 PHKA1 5255 broad.mit.edu 37 X 71822083 71822083 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:71822083G>A ENST00000373545.3 - 26 3219 c.2781C>T c.(2779-2781)atC>atT p.I927I PHKA1_ENST00000541944.1_Silent_p.I927I|PHKA1_ENST00000339490.3_Silent_p.I986I|PHKA1_ENST00000373539.3_Silent_p.I986I|PHKA1_ENST00000373542.4_Silent_p.I986I P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 986 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CAATCTCGTGGATAGAAATAG 0.413000 13 11 0 0 0.000566183 0 0 KIAA0196 9897 broad.mit.edu 37 8 126071759 126071759 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:126071759G>A ENST00000318410.7 - 13 1896 c.1547C>T c.(1546-1548)tCc>tTc p.S516F KIAA0196_ENST00000517845.1_Missense_Mutation_p.S368F NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 516 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTGCAGATTGGATTCCAACTG 0.358000 5 34 0 0 0.00116845 0 0 OR8K5 219453 broad.mit.edu 37 11 55926886 55926886 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55926886T>C ENST00000313447.1 - 1 907 c.908A>G c.(907-909)aAg>aGg p.K303R NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CTCAAAGAGCTTATAGAAGGC 0.274000 9 18 0 0 0.00136819 0 0 MACROD2 140733 broad.mit.edu 37 20 15480424 15480424 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:15480424C>T ENST00000217246.4 + 8 972 c.577C>T c.(577-579)Ccc>Tcc p.P193S MACROD2_ENST00000310348.4_Missense_Mutation_p.P193S|MACROD2_ENST00000402914.1_5'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 193 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TCTAGGCTTTCCCAACGAGCC 0.438000 18 31 0 0 0.00121646 0 0 CFHR4 10877 broad.mit.edu 37 1 196871680 196871680 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:196871680C>T ENST00000367416.2 + 2 325 c.188C>T c.(187-189)tCa>tTa p.S63L CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.S64L NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.S64L(1)|p.S63L(1) 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 GTGACTCCTTCAGGAAGTTAC 0.393000 41 76 0 0 0.00170553 0 0 DDX3X 1654 broad.mit.edu 37 X 41198307 41198307 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:41198307C>T ENST00000399959.2 + 3 977 c.122C>T c.(121-123)cCt>cTt p.P41L DDX3X_ENST00000542215.1_Missense_Mutation_p.P85L|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.P41L|DDX3X_ENST00000457138.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 41 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TATATTCCTCCTCATTTAAGG 0.313000 HNSCC(61;0.18) 9 9 0 0 0.000673444 0 0 ZNF275 10838 broad.mit.edu 37 X 152612330 152612330 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:152612330G>A ENST00000421401.3 + 4 364 c.187G>A c.(187-189)Gag>Aag p.E63K ZNF275_ENST00000370251.2_Missense_Mutation_p.E63K|ZNF275_ENST00000370249.2_Missense_Mutation_p.E10K|ZNF275_ENST00000440091.1_Missense_Mutation_p.E93K NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 63 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGCCACAGGAGATGGCGTC 0.577000 13 15 0 0 0.00244969 0 0 TTN 7273 broad.mit.edu 37 2 179576810 179576810 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179576810C>T ENST00000589042.1 - 96 27971 c.27747G>A c.(27745-27747)acG>acA p.T9249T TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T8005T|TTN_ENST00000591111.1_Silent_p.T8932T|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8932 Ig-like 75. 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) TTTTGTAAGTCGTAGTGGGTC 0.403000 16 36 0 0 0.00316338 0 0 FLRT3 23767 broad.mit.edu 37 20 14307111 14307111 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:14307111G>A ENST00000378053.3 - 2 1298 c.1042C>T c.(1042-1044)Ctc>Ttc p.L348F MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.L348F|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 348 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCTGCATTGAGATCCTTAATA 0.483000 23 48 0 0 0.00229938 0 0 PIWIL2 55124 broad.mit.edu 37 8 22175740 22175740 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:22175740G>A ENST00000356766.6 + 20 2503 c.2355G>A c.(2353-2355)gtG>gtA p.V785V PIWIL2_ENST00000521356.1_Silent_p.V785V|PIWIL2_ENST00000454009.2_Silent_p.V785V NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 785 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AGGAGATTGTGGACAGCCTGA 0.463000 43 107 0 0 0.00361006 0 0 EXTL3 2137 broad.mit.edu 37 8 28574593 28574593 + Silent SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:28574593G>C ENST00000220562.4 + 3 1919 c.1017G>C c.(1015-1017)cgG>cgC p.R339R EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 339 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CGGTGAAGCGGAAATATCTCT 0.562000 22 27 0 0 0.000878237 0 0 GRM8 2918 broad.mit.edu 37 7 126173891 126173891 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:126173891G>A ENST00000339582.2 - 9 2353 c.1545C>T c.(1543-1545)gtC>gtT p.V515V GRM8_ENST00000358373.3_Silent_p.V515V|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Silent_p.V515V O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 515 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCAGGCTGCAGACAGACGCCG 0.502000 HNSCC(24;0.065) 23 37 0 0 0.00127121 0 0 C17orf78 284099 broad.mit.edu 37 17 35736186 35736186 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:35736186G>A ENST00000300618.4 + 3 307 c.257G>A c.(256-258)aGa>aAa p.R86K ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.R86K NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 86 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) TATTTGGAGAGAAGGCCAAAG 0.463000 49 99 0 0 0.00361006 0 0 MUC16 94025 broad.mit.edu 37 19 9049043 9049043 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9049043G>A ENST00000397910.4 - 5 32791 c.32588C>T c.(32587-32589)tCa>tTa p.S10863L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10865 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 TGGAACAGCTGAACTGGATTC 0.473000 24 49 0 0 0.00332997 0 0 OR4M2 390538 broad.mit.edu 37 15 22368758 22368758 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22368758C>T ENST00000332663.2 + 1 281 c.183C>T c.(181-183)ttC>ttT p.F61F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 61 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) CTATGTATTTCCTGTTGGCTA 0.388000 64 140 0 0 0.00361006 0 0 LAMP5 24141 broad.mit.edu 37 20 9495524 9495524 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:9495524C>T ENST00000246070.2 + 1 517 c.25C>T c.(25-27)Ccc>Tcc p.P9S LAMP5_ENST00000427562.2_Missense_Mutation_p.P9S|RP5-1119D9.4_ENST00000443469.1_RNA NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 9 integral to membrane AAGAGGGGTCCCCAGCATCGA 0.597000 6 24 0 0 0.00116845 0 0 PRB3 5544 broad.mit.edu 37 12 11421581 11421581 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:11421581G>A ENST00000381842.3 - 0 123 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TATTACGGAGGGAGATTCTTC 0.418000 34 89 0 0 0.00170553 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787095 73787095 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:73787095G>A ENST00000342056.2 + 4 1065 c.667G>A c.(667-669)Ggt>Agt p.G223S KCNQ5_ENST00000414165.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G223S|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G223S|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G223S|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G223S NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 223 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAAACTCAGGGTAATATTTT 0.458000 21 41 0 0 0.00188189 0 0 TTN 7273 broad.mit.edu 37 2 179592541 179592541 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179592541A>T ENST00000589042.1 - 68 19988 c.19764T>A c.(19762-19764)gaT>gaA p.D6588E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5344E|TTN_ENST00000591111.1_Missense_Mutation_p.D6271E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6271 Ig-like 47. 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) CCACTGTAGAATCAGGTATGG 0.353000 22 51 0 0 0.00152264 0 0 PCDH18 54510 broad.mit.edu 37 4 138442417 138442417 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:138442417G>A ENST00000344876.4 - 4 3560 c.3174C>T c.(3172-3174)gcC>gcT p.A1058A PCDH18_ENST00000510305.1_Silent_p.A269A|PCDH18_ENST00000507846.1_Silent_p.A837A|PCDH18_ENST00000412923.2_Silent_p.A1057A|PCDH18_ENST00000511115.1_Silent_p.A238A NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1058 Interaction with DAB1 (By similarity). 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) AATGCGTACTGGCTGCCCATG 0.577000 16 20 0 0 0.000566183 0 0 LIMCH1 22998 broad.mit.edu 37 4 41621205 41621205 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:41621205G>A ENST00000313860.7 + 8 737 c.682_splice c.e8-1 p.G228_splice LIMCH1_ENST00000511496.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000396595.3_Splice_Site_p.G74_splice|LIMCH1_ENST00000512820.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000513024.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000509638.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000509277.1_Splice_Site_p.G74_splice|LIMCH1_ENST00000381753.4_Splice_Site_p.G74_splice|LIMCH1_ENST00000514096.1_Splice_Site_p.G81_splice|LIMCH1_ENST00000503057.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000512946.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000509454.1_Splice_Site_p.G76_splice|LIMCH1_ENST00000508501.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000512632.1_Splice_Site_p.G228_splice NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 228 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 TCTTCCCTAGGGAGAGGAAGC 0.507000 88 183 0 0 0.00361006 0 0 RASGRF1 5923 broad.mit.edu 37 15 79339128 79339128 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:79339128G>A ENST00000419573.3 - 5 1112 c.838C>T c.(838-840)Ccc>Tcc p.P280S RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P280S NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 280 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGTGTGATGGGAGGCTTCTTG 0.592000 39 95 0 0 0.0025221 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762860 130762860 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:130762860G>A ENST00000392429.1 + 2 3671 c.1293G>A c.(1291-1293)atG>atA p.M431I TMEM200A_ENST00000296978.3_Missense_Mutation_p.M431I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M431I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 431 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGGGATATATGAAACTAGAGA 0.453000 16 34 0 0 0.00316338 0 0 SCN3B 55800 broad.mit.edu 37 11 123513367 123513367 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:123513367G>A ENST00000392770.2 - 3 1034 c.232C>T c.(232-234)Cgg>Tgg p.R78W SCN3B_ENST00000530277.1_Missense_Mutation_p.R78W|SCN3B_ENST00000299333.3_Missense_Mutation_p.R78W NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 78 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TGGCCATTCCGATACTCGTAA 0.582000 9 15 0 0 0.000274275 0 0 USP11 8237 broad.mit.edu 37 X 47106620 47106620 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:47106620G>A ENST00000377107.2 + 18 2774 c.2420_splice c.e18+1 p.R807_splice USP11_ENST00000218348.3_Splice_Site_p.R850_splice P51784 UBP11_HUMAN ubiquitin specific peptidase 11 850 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 TTTCCTATCCGGTCAGGGGCC 0.577000 24 19 0 0 0.00106085 0 0 USP24 23358 broad.mit.edu 37 1 55545290 55545290 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:55545290G>A ENST00000294383.6 - 60 7120 c.7121C>T c.(7120-7122)cCc>cTc p.P2374L USP24_ENST00000407756.1_Missense_Mutation_p.P2214L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2374 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AGGGCTTGAGGGAGCAATGCT 0.448000 33 67 0 0 0.00209593 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45503088 45503088 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:45503088C>T ENST00000291574.4 + 14 2318 c.2143C>T c.(2143-2145)Ccc>Tcc p.P715S NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 715 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TCTAGAGATGCCCTCAGGGGT 0.567000 50 84 0 0 0.00361006 0 0 C1orf168 199920 broad.mit.edu 37 1 57221585 57221585 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:57221585G>A ENST00000343433.6 - 7 1194 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 372 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 TCTGGATAGGGAAAATTCTTC 0.393000 11 31 0 0 0.00136819 0 0 C10orf88 80007 broad.mit.edu 37 10 124712447 124712447 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:124712447G>A ENST00000481909.1 - 2 490 c.266C>T c.(265-267)tCt>tTt p.S89F C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 89 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AATGCCAATAGAAGCGATTTC 0.443000 20 34 0 0 0.00229938 0 0 CCDC80 151887 broad.mit.edu 37 3 112357286 112357286 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:112357286C>T ENST00000206423.3 - 2 2420 c.1467G>A c.(1465-1467)aaG>aaA p.K489K CCDC80_ENST00000439685.2_Silent_p.K489K NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 489 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GAGGTTTCTCCTTTGCTGGCT 0.577000 32 75 0 0 0.0024448 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527590 65527590 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:65527590G>A ENST00000310193.3 - 4 1223 c.1050C>T c.(1048-1050)atC>atT p.I350I CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 350 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TACCTAGGCAGATTAGGCTGT 0.433000 18 31 0 0 0.00152264 0 0 C12orf54 121273 broad.mit.edu 37 12 48880502 48880502 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:48880502G>A ENST00000314014.2 + 4 259 c.128G>A c.(127-129)tGg>tAg p.W43* RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548913.1_3'UTR|C12orf54_ENST00000548364.1_Nonsense_Mutation_p.W43* NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 43 endometrium(1)|large_intestine(4) 5 GAAACCCTGTGGGACCAGGTG 0.438000 6 14 0 0 0.000274275 0 0 ABCA4 24 broad.mit.edu 37 1 94506778 94506778 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:94506778C>T ENST00000370225.3 - 23 3595 c.3509G>A c.(3508-3510)aGg>aAg p.R1170K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1170 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) ACTGCCTTTCCTTTGGCTCTG 0.562000 13 28 0 0 0.00316338 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687508 27687508 + Silent SNP C C T rs145775010 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:27687508C>T ENST00000438700.3 - 4 2136 c.2019G>A c.(2017-2019)agG>agA p.R673R NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 673 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCAGTTTTTGCCTAACATCTT 0.294000 5 28 0 0 0.000602214 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032971 82032971 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:82032971G>A ENST00000328945.5 - 3 1054 c.927C>T c.(925-927)ccC>ccT p.P309P NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 309 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GAGTGAGGAAGGGCTGGAAGT 0.453000 19 36 0 0 0.00229938 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143613 61143613 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:61143613G>A ENST00000475015.1 - 0 725 C20orf166-AS1_ENST00000412495.1_RNA GGGCCACTTGGGACACTCAGC 0.662000 9 22 0 0 0.000274275 0 0 PLEC 5339 broad.mit.edu 37 8 144992922 144992922 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:144992922C>T ENST00000322810.4 - 32 11647 c.11478G>A c.(11476-11478)acG>acA p.T3826T PLEC_ENST00000354958.2_Silent_p.T3667T|PLEC_ENST00000436759.2_Silent_p.T3716T|PLEC_ENST00000527096.1_Silent_p.T3712T|PLEC_ENST00000354589.3_Silent_p.T3689T|PLEC_ENST00000398774.2_Silent_p.T3657T|PLEC_ENST00000357649.2_Silent_p.T3693T|PLEC_ENST00000345136.3_Silent_p.T3689T|PLEC_ENST00000356346.3_Silent_p.T3675T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3826 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCACGGAGCCCGTGCCATAGA 0.647000 8 18 0 0 0.00307968 0 0 TRIM35 23087 broad.mit.edu 37 8 27151621 27151621 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:27151621C>T ENST00000305364.4 - 3 821 c.738G>A c.(736-738)aaG>aaA p.K246K TRIM35_ENST00000521253.1_Silent_p.K214K NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 246 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CGTCGTCCTCCTTCATCTCCA 0.567000 14 43 0 0 0.00316338 0 0 ZNF28 7576 broad.mit.edu 37 19 53303281 53303281 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53303281G>A ENST00000438150.2 - 2 2551 c.1658C>T c.(1657-1659)cCt>cTt p.P553L ZNF28_ENST00000457749.2_Missense_Mutation_p.P606L|ZNF28_ENST00000414252.2_Missense_Mutation_p.P553L|ZNF28_ENST00000360272.4_Missense_Mutation_p.P553L P17035 ZNF28_HUMAN zinc finger protein 28 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ACACTTGTAAGGTTTCTCTCC 0.443000 39 112 0 0 0.00428921 0 0 RAB40C 57799 broad.mit.edu 37 16 677562 677562 + Silent SNP C C T rs139898602 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:677562C>T ENST00000535977.1 + 7 1008 c.786C>T c.(784-786)tcC>tcT p.S262S RAB40C_ENST00000538492.1_Silent_p.S262S|RAB40C_ENST00000539661.1_Silent_p.S262S|RAB40C_ENST00000248139.3_Silent_p.S262S NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 262 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) GGTCCAAGTCCATCCGTCCAC 0.682000 23 32 0 0 0.000878237 0 0 ZNF275 10838 broad.mit.edu 37 X 152612329 152612329 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:152612329G>A ENST00000421401.3 + 4 363 c.186G>A c.(184-186)caG>caA p.Q62Q ZNF275_ENST00000370251.2_Silent_p.Q62Q|ZNF275_ENST00000370249.2_Silent_p.Q9Q|ZNF275_ENST00000440091.1_Silent_p.Q92Q NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 62 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGCCACAGGAGATGGCGT 0.577000 13 15 0 0 0.00244969 0 0 UMPS 7372 broad.mit.edu 37 3 124456817 124456817 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:124456817C>T ENST00000232607.2 + 3 819 c.713C>T c.(712-714)cCa>cTa p.P238L UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_Missense_Mutation_p.P60L|UMPS_ENST00000538242.1_Missense_Mutation_p.P60L|UMPS_ENST00000536109.1_Missense_Mutation_p.P146L NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 238 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) AGGATCCACCCAGTTGCATCG 0.498000 30 51 0 0 0.0024448 0 0 SSRP1 6749 broad.mit.edu 37 11 57099698 57099698 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:57099698A>G ENST00000278412.2 - 8 1195 c.929T>C c.(928-930)cTc>cCc p.L310P NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 310 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CATCTCATAGAGGGATCCTGA 0.532000 25 57 0 0 0.000720815 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172237 21172237 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:21172237G>A ENST00000421593.2 + 2 141 c.141G>A c.(139-141)ccG>ccA p.P47P SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) p.P47P(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TACACAGACCGAAGTTAATTG 0.328000 10 31 0 0 0.000442599 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701796 56701796 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:56701796G>A ENST00000586855.2 - 5 1201 c.888C>T c.(886-888)ccC>ccT p.P296P ZSCAN5B_ENST00000358992.3_Silent_p.P296P A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 296 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGCTTCTTTTGGGACTGCTCA 0.517000 53 106 0 0 0.00361006 0 0 TRIM29 23650 broad.mit.edu 37 11 120008370 120008370 + Nonsense_Mutation SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:120008370T>A ENST00000341846.5 - 1 791 c.370A>T c.(370-372)Aag>Tag p.K124* NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 124 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AGCTCGCCCTTTTCGGCAAAG 0.632000 62 54 0 0 0.00361006 0 0 ADAM2 2515 broad.mit.edu 37 8 39626920 39626920 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:39626920C>T ENST00000265708.4 - 12 1306 c.1203G>A c.(1201-1203)ggG>ggA p.G401G ADAM2_ENST00000347580.4_Silent_p.G382G|ADAM2_ENST00000521880.1_Silent_p.G401G|ADAM2_ENST00000379853.2_Silent_p.G275G NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 401 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CCTGTTCAGTCCCACAGTCAC 0.428000 18 30 0 0 0.00395357 0 0 OR8H3 390152 broad.mit.edu 37 11 55890328 55890328 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55890328G>A ENST00000313472.3 + 1 480 c.480G>A c.(478-480)gtG>gtA p.V160V NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 160 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) TTGTCAATGTGGTTTCCATGA 0.443000 36 65 0 0 0.00327116 0 0 ZNF728 388523 broad.mit.edu 37 19 23159296 23159296 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:23159296C>T ENST00000594710.1 - 4 988 c.843G>A c.(841-843)gaG>gaA p.E281E NM_001267716.1 NP_001254645.1 zinc finger protein 728 TGTAGGGTTTCTCTCCAGCAT 0.418000 7 12 0 0 0.000274275 0 0 MAPK4 5596 broad.mit.edu 37 18 48190772 48190772 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:48190772G>A ENST00000400384.2 + 2 1480 c.444G>A c.(442-444)agG>agA p.R148R MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.R148R|MAPK4_ENST00000592595.1_Silent_p.R148R|MAPK4_ENST00000540640.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 148 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGCTGCACAGGGACCTGAAGC 0.572000 9 30 0 0 0.000442599 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112030709 112030709 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:112030709C>T ENST00000374566.3 - 3 933 c.416G>A c.(415-417)tGg>tAg p.W139* EPB41L4B_ENST00000374557.4_Nonsense_Mutation_p.W139* NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 139 FERM. 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 ATGATCCAGCCAGTGCTGAAA 0.368000 8 4 0 0 0.000274275 0 0 VAT1L 57687 broad.mit.edu 37 16 77918561 77918561 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:77918561C>T ENST00000302536.2 + 7 1092 c.939C>T c.(937-939)atC>atT p.I313I NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 313 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 ACAAAGTCATCGCGGGGTTTT 0.507000 9 11 0 0 0.000978159 0 0 OR5T1 390155 broad.mit.edu 37 11 56043123 56043123 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:56043123G>A ENST00000313033.2 + 1 95 c.9G>A c.(7-9)ggG>ggA p.G3G NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 3 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) AAATGTCAGGGTTGCCTTCAG 0.318000 61 144 0 0 0.00361006 0 0 FLT1 2321 broad.mit.edu 37 13 28919657 28919657 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:28919657G>A ENST00000282397.4 - 16 2531 c.2280C>T c.(2278-2280)atC>atT p.I760I FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 760 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ATGTTAGAGTGATCAGCTCCA 0.413000 7 14 0 0 0.00307968 0 0 NF1 4763 broad.mit.edu 37 17 29701167 29701167 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:29701167C>T ENST00000358273.4 + 58 8897 c.8514C>T c.(8512-8514)atC>atT p.I2838I NF1_ENST00000444181.2_Intron|NF1_ENST00000356175.3_Silent_p.I2817I NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2838 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.I2838I(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTAAGAAGATCGTGTGAAGCT 0.478000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 19 0 0 0.000673444 0 0 CNNM2 54805 broad.mit.edu 37 10 104831540 104831540 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:104831540C>T ENST00000369878.3 + 6 2301 c.2177C>T c.(2176-2178)tCc>tTc p.S726F CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron|CNNM2_ENST00000457502.2_Missense_Mutation_p.S484F NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 726 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GTTCCTTTGTCCCTGTCTCGT 0.448000 26 89 0 0 0.00178596 0 0 GALNT5 11227 broad.mit.edu 37 2 158142569 158142569 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:158142569C>T ENST00000259056.4 + 3 2149 c.1664C>T c.(1663-1665)cCa>cTa p.P555L NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 555 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TCCCAGTTTCCAAAAGTTCGG 0.378000 13 14 0 0 0.00185496 0 0 MRPL47 57129 broad.mit.edu 37 3 179316479 179316479 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:179316479G>A ENST00000476781.1 - 4 415 c.386C>T c.(385-387)cCa>cTa p.P129L MRPL47_ENST00000392659.2_Missense_Mutation_p.P19L|MRPL47_ENST00000259038.2_Missense_Mutation_p.P109L NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 129 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TAACCGCTCTGGACTTGGCAT 0.433000 33 85 0 0 0.000953801 0 0 PTDSS2 81490 broad.mit.edu 37 11 479146 479146 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:479146C>T ENST00000308020.5 + 4 605 c.429C>T c.(427-429)ctC>ctT p.L143L PTDSS2_ENST00000530087.1_3'UTR NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 143 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) TCTTTATACTCTTCCAGGTAA 0.532000 56 99 0 0 0.00361006 0 0 LRIG3 121227 broad.mit.edu 37 12 59284549 59284549 + Missense_Mutation SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:59284549G>C ENST00000320743.3 - 4 699 c.413C>G c.(412-414)cCt>cGt p.P138R LRIG3_ENST00000379141.4_Missense_Mutation_p.P78R NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 138 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGATGTTCAGGGAGTATTTC 0.373000 T ROS1 NSCLC 13 30 0 0 0.00316338 0 0 SNX33 257364 broad.mit.edu 37 15 75942128 75942128 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:75942128C>T ENST00000308527.5 + 1 1882 c.685C>T c.(685-687)Cca>Tca p.P229S NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 229 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CAATCCCCACCCATTTGCCTG 0.557000 23 65 0 0 0.000720815 0 0 TMEM40 55287 broad.mit.edu 37 3 12785412 12785412 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:12785412C>T ENST00000314124.7 - 4 644 c.288G>A c.(286-288)ggG>ggA p.G96G TMEM40_ENST00000264728.8_Silent_p.G96G|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000431022.2_Silent_p.G112G NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 96 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 GTGAGCCGTTCCCGTGGGGGT 0.542000 9 26 0 0 0.000442599 0 0 TRAV4 28689 broad.mit.edu 37 14 22205159 22205159 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22205159G>A ENST00000390426.2 + 0 290 AGTTACAAACGAAGTGGCCTC 0.488000 4 8 0 0 0.000602214 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:39274319G>C ENST00000391413.2 - 1 287 c.249C>G c.(247-249)agC>agG p.S83R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 83 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S83R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.662000 6 21 0 0 0.00307968 0 0 BSND 7809 broad.mit.edu 37 1 55472798 55472798 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:55472798C>T ENST00000371265.4 + 3 655 c.401C>T c.(400-402)cCt>cTt p.P134L NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 134 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TTGCTGGCCCCTGAGATGGGG 0.617000 18 47 0 0 0.000958276 0 0 SATB1 6304 broad.mit.edu 37 3 18390942 18390942 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:18390942T>G ENST00000338745.6 - 11 3746 c.2012A>C c.(2011-2013)gAc>gCc p.D671A SATB1_ENST00000454909.2_Missense_Mutation_p.D671A|SATB1_ENST00000417717.2_Missense_Mutation_p.D703A|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 671 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GGCCTCTTCGTCAGGGTACAG 0.522000 33 82 0 0 0.00209593 0 0 GPLD1 2822 broad.mit.edu 37 6 24448199 24448199 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:24448199G>A ENST00000230036.1 - 17 1694 c.1584C>T c.(1582-1584)ccC>ccT p.P528P NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 528 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TGACCAGATCGGGTTCACTGT 0.522000 8 26 0 0 0.000442599 0 0 COL6A6 131873 broad.mit.edu 37 3 130311917 130311917 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:130311917G>A ENST00000358511.6 + 15 4415 c.4384G>A c.(4384-4386)Gaa>Aaa p.E1462K COL6A6_ENST00000453409.2_Missense_Mutation_p.E1462K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1462 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGAAGTTGGGGAAAATGGAAT 0.368000 73 234 0 0 0.00361006 0 0 FAM83B 222584 broad.mit.edu 37 6 54806491 54806491 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:54806491C>T ENST00000306858.7 + 5 2838 c.2722C>T c.(2722-2724)Cct>Tct p.P908S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 908 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) AGTTGTTACCCCTGAAAGAAG 0.463000 24 43 0 0 0.000720815 0 0 NDST4 64579 broad.mit.edu 37 4 115767017 115767017 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:115767017G>A ENST00000264363.2 - 10 2755 c.2077C>T c.(2077-2079)Ctc>Ttc p.L693F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 693 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) GGGTCAATGAGGATGGTGATG 0.428000 29 51 0 0 0.00148497 0 0 GLI1 2735 broad.mit.edu 37 12 57865691 57865691 + Silent SNP C C A rs138630661 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:57865691C>A ENST00000228682.2 + 12 3259 c.3168C>A c.(3166-3168)ccC>ccA p.P1056P GLI1_ENST00000543426.1_Silent_p.P928P|GLI1_ENST00000546141.1_Silent_p.P1015P NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 1056 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.P1056P(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TGGATGAGCCCCAGGGGCTGA 0.587000 7 142 0.000274275 0.000624509 0.000274275 1 0 PAK7 57144 broad.mit.edu 37 20 9546830 9546830 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:9546830C>T ENST00000378429.3 - 6 1738 c.1192G>A c.(1192-1194)Gct>Act p.A398T PAK7_ENST00000353224.5_Missense_Mutation_p.A398T|PAK7_ENST00000378423.1_Missense_Mutation_p.A398T NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 398 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGGTAGGAAGCCGTGGAGATG 0.617000 16 30 0 0 0.00400662 0 0 TTPAL 79183 broad.mit.edu 37 20 43108798 43108798 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:43108798G>A ENST00000372904.3 + 3 302 c.159G>A c.(157-159)tgG>tgA p.W53* TTPAL_ENST00000262605.4_Nonsense_Mutation_p.W53*|TTPAL_ENST00000372906.2_Nonsense_Mutation_p.W53* NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 53 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 AGCCGGAATGGAGACTTCGAG 0.597000 9 13 0 0 0.000442599 0 0 PSG2 5670 broad.mit.edu 37 19 43586677 43586677 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:43586677C>T ENST00000406487.1 - 1 143 c.45G>A c.(43-45)tgG>tgA p.W15* PSG2_ENST00000491995.1_5'UTR NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 15 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) GGAGCCCCTTCCATTTGATGT 0.577000 43 89 0 0 0.00361006 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 38 83 0 0 0.00170553 0 0 FAAH2 158584 broad.mit.edu 37 X 57405110 57405110 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:57405110C>T ENST00000374900.4 + 6 889 c.769C>T c.(769-771)Ccc>Tcc p.P257S NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 257 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 AGGTCAGTTTCCCTTGGCTGT 0.507000 HNSCC(52;0.14) 36 12 0 0 0.00111076 0 0 PAPPA 5069 broad.mit.edu 37 9 119158869 119158869 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:119158869G>A ENST00000328252.3 + 22 5227 c.4858G>A c.(4858-4860)Gac>Aac p.D1620N PAPPA_ENST00000534838.1_Missense_Mutation_p.D658N|PAPPA_ENST00000483254.1_3'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1620 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 CAGCCGGAAAGACCTCCGGGG 0.522000 17 31 0 0 0.00074312 0 0 SSH3 54961 broad.mit.edu 37 11 67077252 67077252 + Missense_Mutation SNP C C T rs149176266 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67077252C>T ENST00000308127.4 + 12 1400 c.1222C>T c.(1222-1224)Cac>Tac p.H408Y SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.H408Y NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 408 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACAGGGCACCCACGTGCTGGT 0.647000 15 35 0 0 0.000566183 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704034 60704034 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:60704034G>A ENST00000005286.4 + 11 2883 c.2730G>A c.(2728-2730)ctG>ctA p.L910L TMEM132A_ENST00000453848.2_Silent_p.L909L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 909 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCCGCCAGCTGGACCGGCAGT 0.716000 8 20 0 0 0.000274275 0 0 KIF4B 285643 broad.mit.edu 37 5 154395342 154395342 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:154395342G>A ENST00000435029.4 + 1 2083 c.1923G>A c.(1921-1923)tgG>tgA p.W641* NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 641 W -> R (in Ref. 1; AF241316). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAGAGATATGGATGATGAAAA 0.393000 30 59 0 0 0.00178596 0 0 PRUNE2 158471 broad.mit.edu 37 9 79259754 79259754 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:79259754C>T ENST00000428286.1 - 12 8755 c.7555G>A c.(7555-7557)Gag>Aag p.E2519K PRUNE2_ENST00000443509.2_Missense_Mutation_p.E126K|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2877K|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.E142K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2877 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGGTTGTCCTCCCGTTCCTCT 0.512000 15 12 0 0 0.00244969 0 0 CDC25A 993 broad.mit.edu 37 3 48215944 48215944 + Missense_Mutation SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:48215944T>A ENST00000302506.3 - 9 1168 c.760A>T c.(760-762)Aac>Tac p.N254Y CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.N214Y NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 254 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TTGCATCGGTTGTCCTTACAG 0.458000 17 38 0 0 0.00074312 0 0 CCDC115 84317 broad.mit.edu 37 2 131099616 131099616 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:131099616C>T ENST00000259229.2 - 1 306 c.83G>A c.(82-84)cGa>cAa p.R28Q CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Intron NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 28 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) CAACACCGTTCGTTTCCCCTC 0.652000 15 56 0 0 0.00074312 0 0 SIN3B 23309 broad.mit.edu 37 19 16962281 16962281 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:16962281C>T ENST00000379803.1 + 6 799 c.785C>T c.(784-786)aCc>aTc p.T262I SIN3B_ENST00000248054.5_Missense_Mutation_p.T262I|SIN3B_ENST00000596802.1_Missense_Mutation_p.T262I NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 262 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CACGACAAGACCCCGGAGCAC 0.652000 23 52 0 0 0.00229938 0 0 MYH13 8735 broad.mit.edu 37 17 10216666 10216666 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:10216666C>A ENST00000418404.3 - 29 4153 c.3990G>T c.(3988-3990)aaG>aaT p.K1330N MYH13_ENST00000252172.4_Missense_Mutation_p.K1330N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1330N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1330 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 CCATGGCGTTCTTGGCCTGGG 0.527000 36 61 3.76114e-14 8.68359e-14 0.00428921 1 0 ZNF665 79788 broad.mit.edu 37 19 53668429 53668429 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53668429G>A ENST00000600412.1 - 2 1234 c.1119C>T c.(1117-1119)gcC>gcT p.A373A ZNF665_ENST00000396424.3_Silent_p.A438A Q9H7R5 ZN665_HUMAN zinc finger protein 665 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GCACACTAAAGGCTTTGCCAC 0.413000 23 26 0 0 0.00278032 0 0 COX10 1352 broad.mit.edu 37 17 14110520 14110520 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:14110520C>T ENST00000261643.3 + 7 1399 c.1322C>T c.(1321-1323)cCt>cTt p.P441L COX10_ENST00000536205.1_Missense_Mutation_p.P249L|COX10_ENST00000537334.1_Missense_Mutation_p.P224L NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 441 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GCAGGGCCCCCTCCCAGCTGA 0.642000 5 11 0 0 0.00116845 0 0 MME 4311 broad.mit.edu 37 3 154886390 154886390 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154886390C>T ENST00000460393.1 + 19 2010 c.1890C>T c.(1888-1890)tcC>tcT p.S630S MME_ENST00000492661.1_Silent_p.S630S|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.S630S|MME_ENST00000493237.1_Silent_p.S630S|MME_ENST00000462745.1_Silent_p.S630S NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 630 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GAAACTTTTCCTGGGACCTGG 0.403000 17 52 0 0 0.00188189 0 0 LFNG 3955 broad.mit.edu 37 7 2565089 2565089 + Missense_Mutation SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:2565089G>C ENST00000222725.5 + 4 643 c.623G>C c.(622-624)cGg>cCg p.R208P LFNG_ENST00000402506.1_Missense_Mutation_p.R137P|LFNG_ENST00000338732.3_Missense_Mutation_p.R79P|LFNG_ENST00000359574.3_Missense_Mutation_p.R208P|LFNG_ENST00000402045.1_Missense_Mutation_p.R79P NM_001040167.1 NP_001035257.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 208 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GTCAACCTGCGGGCCCTGCTG 0.701000 10 19 0 0 0.000673444 0 0 BAX 581 broad.mit.edu 37 19 49464236 49464236 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:49464236C>T ENST00000293288.8 + 5 539 c.539C>T c.(538-540)tCc>tTc p.S180F BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000415969.2_Intron|BAX_ENST00000345358.7_Intron NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 0 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) gccccaccgtccctgcccccC 0.652000 12 17 0 0 0.000978159 0 0 TMEM159 57146 broad.mit.edu 37 16 21181806 21181806 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:21181806C>T ENST00000233047.4 + 3 613 c.145C>T c.(145-147)Ccg>Tcg p.P49S TMEM159_ENST00000451578.2_Missense_Mutation_p.P73S|TMEM159_ENST00000572258.1_Missense_Mutation_p.P49S|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.P49S|TMEM159_ENST00000261388.3_Missense_Mutation_p.P49S Q96B96 TM159_HUMAN transmembrane protein 159 49 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) GGACAGCCATCCGTTTCTGGC 0.537000 46 94 0 0 0.00361006 0 0 UNC13C 440279 broad.mit.edu 37 15 54306718 54306718 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:54306718G>A ENST00000545554.1 + 1 1618 c.1618G>A c.(1618-1620)Gat>Aat p.D540N UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 540 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) CTCACAGAGTGATTTTTTCAC 0.368000 17 15 0 0 0.00074312 0 0 ANO10 55129 broad.mit.edu 37 3 43618707 43618707 + Silent SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:43618707T>G ENST00000292246.3 - 6 809 c.639A>C c.(637-639)ggA>ggC p.G213G ANO10_ENST00000414522.2_Silent_p.G213G|ANO10_ENST00000451430.2_Silent_p.G102G|ANO10_ENST00000396091.3_Silent_p.G147G|ANO10_ENST00000350459.4_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 213 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 ACTCCAAAAATCCAAAGTACA 0.368000 5 22 0 0 0.00116845 0 0 BANF1 8815 broad.mit.edu 37 11 65770751 65770751 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:65770751C>T ENST00000312175.2 + 2 538 c.30C>T c.(28-30)ttC>ttT p.F10F BANF1_ENST00000524628.1_Intron|BANF1_ENST00000533166.1_Silent_p.F10F|BANF1_ENST00000527348.1_Silent_p.F10F|BANF1_ENST00000445560.2_Silent_p.F10F NM_001143985.1|NM_003860.3 NP_001137457.1|NP_003851.1 O75531 BAF_HUMAN barrier to autointegration factor 1 10 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 ACCGAGACTTCGTGGCAGAGC 0.532000 6 19 0 0 0.00307968 0 0 CTNND2 1501 broad.mit.edu 37 5 11098745 11098745 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:11098745G>A ENST00000304623.8 - 15 2768 c.2579C>T c.(2578-2580)cCa>cTa p.P860L CTNND2_ENST00000503622.1_Missense_Mutation_p.P523L|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.P769L|CTNND2_ENST00000458100.2_Missense_Mutation_p.P427L|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 860 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 CAGCGTGTCTGGATTTGAGCA 0.522000 16 36 0 0 0.00074312 0 0 SEC14L4 284904 broad.mit.edu 37 22 30888480 30888480 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30888480C>T ENST00000392772.2 - 8 760 c.483G>A c.(481-483)agG>agA p.R161R SEC14L4_ENST00000540456.1_Silent_p.R200R|SEC14L4_ENST00000255858.7_Silent_p.R215R|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Silent_p.R215R Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 215 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TCACAATCTTCCTGCGTGTCT 0.537000 9 14 0 0 0.000442599 0 0 MROH2B 133558 broad.mit.edu 37 5 41000823 41000823 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:41000823G>A ENST00000399564.4 - 38 4757 c.4307C>T c.(4306-4308)tCa>tTa p.S1436L MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGAAGGAATGAAATCAGGCT 0.473000 8 11 0 0 0.000442599 0 0 SPTB 6710 broad.mit.edu 37 14 65239389 65239389 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:65239389G>A ENST00000389722.3 - 25 5515 c.5462C>T c.(5461-5463)cCc>cTc p.P1821L SPTB_ENST00000556626.1_Missense_Mutation_p.P1821L|SPTB_ENST00000542895.1_Missense_Mutation_p.P1821L|SPTB_ENST00000389720.3_Missense_Mutation_p.P1821L|SPTB_ENST00000389721.5_Missense_Mutation_p.P1821L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1821 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) CACGTCCTCGGGCAGCTCGCG 0.667000 22 49 0 0 0.00332997 0 0 HNRNPH3 3189 broad.mit.edu 37 10 70097677 70097677 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:70097677G>A ENST00000265866.7 + 3 340 c.175G>A c.(175-177)Gag>Aag p.E59K HNRNPH3_ENST00000441000.2_Intron|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.E59K|HNRNPH3_ENST00000469172.1_3'UTR NM_012207.2|NM_021644.3 NP_036339.1|NP_067676.2 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 (2H9) 59 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 AAGCACAGGGGAGGCCTTCGT 0.498000 31 64 0 0 0.00283554 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729980 30729980 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:30729980C>T ENST00000295754.5 + 6 1883 c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S TGFBR2_ENST00000359013.4_Missense_Mutation_p.P526S NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 501 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ACCAGAAATTCCCAGCTTCTG 0.478000 12 30 0 0 0.00316338 0 0 TTN 7273 broad.mit.edu 37 2 179497428 179497428 + Silent SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179497428G>T ENST00000589042.1 - 235 43529 c.43305C>A c.(43303-43305)ccC>ccA p.P14435P TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P5370P|TTN_ENST00000359218.5_Silent_p.P5495P|TTN_ENST00000342175.6_Silent_p.P5562P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P11867P|TTN_ENST00000591111.1_Silent_p.P12794P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12794 Fibronectin type-III 4. 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) GGAATGTTTTGGGCTCCCTGG 0.418000 6 155 0.00198382 0.00450575 0.00198382 1 0 SYVN1 84447 broad.mit.edu 37 11 64898200 64898200 + Missense_Mutation SNP G G T rs143801580 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:64898200G>T ENST00000526060.1 - 11 1229 c.1037C>A c.(1036-1038)cCg>cAg p.P346Q SYVN1_ENST00000307289.6_Missense_Mutation_p.P295Q|SYVN1_ENST00000377190.3_Missense_Mutation_p.P346Q|SYVN1_ENST00000294256.8_Missense_Mutation_p.P346Q|SYVN1_ENST00000526121.1_5'UTR Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 346 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CGCAGGCTCCGGGGGTGGTGG 0.687000 8 29 1.12685e-05 2.56899e-05 0.000274275 1 0 IGHV3-7 28452 broad.mit.edu 37 14 106518559 106518559 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:106518559C>T ENST00000390598.2 - 0 270 CCACCCACTCCAGCCCCTTCC 0.552000 32 55 0 0 0.00375469 0 0 REV3L 5980 broad.mit.edu 37 6 111688351 111688351 + Missense_Mutation SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:111688351G>T ENST00000435970.1 - 16 7222 c.6406C>A c.(6406-6408)Cct>Act p.P2136T REV3L_ENST00000358835.3_Missense_Mutation_p.P2214T|REV3L_ENST00000368802.3_Missense_Mutation_p.P2214T|REV3L_ENST00000368805.1_Missense_Mutation_p.P2214T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2214 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GGTGCTTCAGGAAGCCTTTCC 0.373000 DNA polymerases (catalytic subunits) 28 30 2.61193e-14 6.03802e-14 0.00178596 1 0 ZNF211 10520 broad.mit.edu 37 19 58153069 58153069 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58153069C>T ENST00000544273.1 + 5 1578 c.1251C>T c.(1249-1251)tcC>tcT p.S417S ZNF211_ENST00000541801.1_Silent_p.S396S|ZNF211_ENST00000299871.5_Silent_p.S470S|ZNF211_ENST00000420680.1_Silent_p.S409S|ZNF211_ENST00000391703.3_Silent_p.S344S|ZNF211_ENST00000347302.3_Silent_p.S405S|ZNF211_ENST00000254182.7_Silent_p.S396S|ZNF211_ENST00000240731.4_Silent_p.S418S Q13398 ZN211_HUMAN zinc finger protein 211 405 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 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;0.026) GTGGAAAATCCTTTAGCCGAA 0.458000 20 34 0 0 0.00229938 0 0 AMFR 267 broad.mit.edu 37 16 56435650 56435650 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:56435650G>A ENST00000290649.5 - 8 1290 c.1080C>T c.(1078-1080)ttC>ttT p.F360F NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 360 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CCTACTTGTGGAAAAGATGTC 0.557000 25 61 0 0 0.00127121 0 0 DDX19B 11269 broad.mit.edu 37 16 70351453 70351453 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:70351453G>A ENST00000288071.6 + 5 596 c.351G>A c.(349-351)aaG>aaA p.K117K RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Silent_p.K117K|DDX19B_ENST00000563206.1_Silent_p.K122K|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000563392.1_Silent_p.K8K|DDX19B_ENST00000393657.2_Silent_p.K8K|DDX19B_ENST00000355992.3_Intron|DDX19B_ENST00000568625.1_Silent_p.K8K NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 117 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GTCCATCCAAGATACAAGAGA 0.383000 18 62 0 0 0.000720815 0 0 PXDNL 137902 broad.mit.edu 37 8 52320808 52320808 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:52320808G>A ENST00000356297.4 - 17 3476 c.3376C>T c.(3376-3378)Ctc>Ttc p.L1126F PXDNL_ENST00000543296.1_Missense_Mutation_p.L1126F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1126 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) GCGGAGAAGAGCCTCTGGGTC 0.577000 37 71 0 0 0.00428921 0 0 RNASE11 122651 broad.mit.edu 37 14 21052207 21052207 + Missense_Mutation SNP G G A rs112711544 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:21052207G>A ENST00000335950.4 - 3 889 c.427C>T c.(427-429)Cct>Tct p.P143S RNASE11_ENST00000398009.2_Missense_Mutation_p.P143S|RNASE11_ENST00000555841.1_Missense_Mutation_p.P143S|RNASE11_ENST00000398008.2_Missense_Mutation_p.P143S|RNASE11_ENST00000553849.1_Missense_Mutation_p.P143S|RNASE11_ENST00000432835.2_Missense_Mutation_p.P143S NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 143 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CTTATGCCAGGATTCTGTACA 0.512000 12 14 0 0 0.000978159 0 0 CHST8 64377 broad.mit.edu 37 19 34180240 34180240 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:34180240C>T ENST00000262622.3 + 2 831 c.73C>T c.(73-75)Ctc>Ttc p.L25F CHST8_ENST00000434302.1_Missense_Mutation_p.L25F|CHST8_ENST00000604556.1_Missense_Mutation_p.L25F|CHST8_ENST00000438847.2_Missense_Mutation_p.L25F NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 25 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AGCTGCAGGCCTCCTCCTCTT 0.637000 42 69 0 0 0.00321405 0 0 CERKL 375298 broad.mit.edu 37 2 182403898 182403898 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:182403898C>T ENST00000410087.3 - 12 1559 c.1459G>A c.(1459-1461)Gat>Aat p.D487N CERKL_ENST00000409440.3_Missense_Mutation_p.D469N|CERKL_ENST00000374970.2_Missense_Mutation_p.D418N|CERKL_ENST00000339098.5_Missense_Mutation_p.D513N|CERKL_ENST00000374969.2_Missense_Mutation_p.D374N NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 513 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAGTTTCATCCTCCTCCTCC 0.368000 33 45 0 0 0.00428921 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564927 46564927 + Missense_Mutation SNP G G A rs139294318 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46564927G>A ENST00000458649.2 - 7 1058 c.640C>T c.(640-642)Ccc>Tcc p.P214S AMBRA1_ENST00000534300.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P214S Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 214 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CCATCTATGGGGATCTCTGGT 0.527000 15 45 0 0 0.000566183 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503944 140503944 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140503944C>T ENST00000194152.1 + 1 2364 c.2364C>T c.(2362-2364)ttC>ttT p.F788F NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 788 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCCAAGTTCAGAAATAGCT 0.408000 18 24 0 0 0.00152264 0 0 RASSF6 166824 broad.mit.edu 37 4 74453578 74453578 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:74453578C>T ENST00000307439.5 - 5 655 c.361G>A c.(361-363)Gaa>Aaa p.E121K RASSF6_ENST00000395777.2_Missense_Mutation_p.E121K|RASSF6_ENST00000335049.5_Missense_Mutation_p.E109K|RASSF6_ENST00000342081.3_Missense_Mutation_p.E153K NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 153 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) TTCCTTTTTTCAGACATAGGA 0.368000 11 43 0 0 0.000978159 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584131 145584131 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:145584131C>T ENST00000532887.1 + 3 1562 c.979C>T c.(979-981)Ctg>Ttg p.L327L SLC52A2_ENST00000329994.2_Silent_p.L327L|SLC52A2_ENST00000540505.1_Silent_p.L239L|SLC52A2_ENST00000530047.1_Silent_p.L327L|SLC52A2_ENST00000402965.1_Silent_p.L327L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.L327L Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 327 integral to plasma membrane receptor activity|riboflavin transporter activity GGCCTGCTTCCTGGCCATGGG 0.657000 27 61 0 0 0.00178596 0 0 AVEN 57099 broad.mit.edu 37 15 34159949 34159949 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:34159949G>A ENST00000306730.3 - 5 849 c.720C>T c.(718-720)ccC>ccT p.P240P NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 240 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) GCTCAAAGATGGGCCCCCTTC 0.547000 6 34 0 0 0.00198382 0 0 ABI1 10006 broad.mit.edu 37 10 27052863 27052863 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:27052863C>T ENST00000355394.4 - 8 1073 c.850G>A c.(850-852)Gga>Aga p.G284R ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.G300R|ABI1_ENST00000376142.2_Missense_Mutation_p.G283R|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376137.4_Intron Q8IZP0 ABI1_HUMAN abl-interactor 1 283 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTGGAGCTCCAGAAGGAGGA 0.408000 22 63 0 0 0.000720815 0 0 LCE3D 84648 broad.mit.edu 37 1 152552164 152552164 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152552164G>A ENST00000368787.3 - 2 305 c.249C>T c.(247-249)ggC>ggT p.G83G NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 83 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) CATGGCCGCAGCCAGAGCCCC 0.632000 39 79 0 0 0.00222228 0 0 RFPL1 5988 broad.mit.edu 37 22 29837592 29837592 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:29837592G>A ENST00000354373.2 + 2 644 c.435G>A c.(433-435)agG>agA p.R145R RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 145 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 ACGACCTCAGGAGCGTCCGAA 0.507000 14 36 0 0 0.000566183 0 0 LIMCH1 22998 broad.mit.edu 37 4 41686475 41686475 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:41686475C>T ENST00000313860.7 + 22 2809 c.2755C>T c.(2755-2757)Cat>Tat p.H919Y LIMCH1_ENST00000511496.1_Missense_Mutation_p.H759Y|LIMCH1_ENST00000396595.3_Missense_Mutation_p.H764Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.H931Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.H772Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.H752Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.H752Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.H759Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.H1303Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.H919Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.H918Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.H842Y NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 919 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 CCATGAAGACCATCAGCTGGA 0.463000 9 29 0 0 0.000442599 0 0 COL6A6 131873 broad.mit.edu 37 3 130368262 130368262 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:130368262G>A ENST00000358511.6 + 32 5620 c.5589G>A c.(5587-5589)acG>acA p.T1863T COL6A6_ENST00000453409.2_Silent_p.T1863T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1863 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGGCACACACGAGAAAAATCG 0.552000 7 12 0 0 0.00198382 0 0 FAM183B 340286 broad.mit.edu 37 7 38725305 38725305 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:38725305C>T ENST00000409072.3 - 2 1235 c.301G>A c.(301-303)Gac>Aac p.D101N family with sequence similarity 183, member B endometrium(1)|lung(7) 8 CGTTCTGGGTCGACCAAGGCT 0.522000 44 90 0 0 0.0025221 0 0 ADSS 159 broad.mit.edu 37 1 244583515 244583515 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:244583515G>A ENST00000366535.3 - 8 1063 c.747C>T c.(745-747)atC>atT p.I249I ADSS_ENST00000462358.1_5'UTR NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 249 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CTTCTACCAAGATTTTCTTTG 0.353000 22 33 0 0 0.00229938 0 0 MAST1 22983 broad.mit.edu 37 19 12975694 12975694 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:12975694G>A ENST00000251472.4 + 13 1477 c.1438G>A c.(1438-1440)Gag>Aag p.E480K NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 480 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GTACTTTGCTGAGACGGTGCT 0.562000 12 34 0 0 0.00136819 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033147 82033147 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:82033147G>A ENST00000328945.5 - 3 878 c.751C>T c.(751-753)Ccc>Tcc p.P251S NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 251 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 ATGAAGTAGGGCTGCCCAGAG 0.562000 29 64 0 0 0.00106085 0 0 ADAM30 11085 broad.mit.edu 37 1 120437244 120437244 + Silent SNP C C T rs145951922 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:120437244C>T ENST00000369400.1 - 1 1874 c.1716G>A c.(1714-1716)acG>acA p.T572T NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 572 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAATTATAGTCGTATGCTCTG 0.398000 185 384 0 0 0.00361006 0 0 MIXL1 83881 broad.mit.edu 37 1 226413252 226413252 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:226413252G>A ENST00000366810.5 + 2 502 c.438G>A c.(436-438)ggG>ggA p.G146G MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.G154G Q9H2W2 MIXL1_HUMAN Mix paired-like homeobox 146 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) GTCAGAGTGGGAAATCCTTCC 0.493000 40 74 0 0 0.00361006 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939042 2939042 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:2939042C>T ENST00000378404.2 + 1 997 c.792C>T c.(790-792)ttC>ttT p.F264F NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 264 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AGGCCCTGTTCGTGCCCCAGC 0.642000 24 72 0 0 0.00278032 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657338 40657338 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:40657338G>A ENST00000406785.1 - 2 272 c.83C>T c.(82-84)tCc>tTc p.S28F SLC8A1_ENST00000406391.2_Missense_Mutation_p.S28F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S28F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S28F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S28F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S28F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 28 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) GTCCACATGGGAAAATAAGAG 0.403000 21 35 0 0 0.00188189 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994718 140994718 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:140994718C>T ENST00000285879.4 + 4 1814 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 510 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGGTTTTCCCCAGTCTCC 0.507000 HNSCC(15;0.026) 55 25 0 0 0.00361006 0 0 BAGE2 85319 broad.mit.edu 37 21 11058350 11058350 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:11058350C>T ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGAAATCTCTTTATAAAAC 0.343000 4 67 0 0 0.00024832 0 0 WDR93 56964 broad.mit.edu 37 15 90281396 90281396 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:90281396G>A ENST00000268130.7 + 16 1991 c.1890G>A c.(1888-1890)agG>agA p.R630R WDR93_ENST00000444934.2_Silent_p.R347R|WDR93_ENST00000560294.1_Silent_p.R602R NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 630 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TTCCTCAAAGGGACTTGGATA 0.468000 65 141 0 0 0.00361006 0 0 ITK 3702 broad.mit.edu 37 5 156676015 156676015 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:156676015G>A ENST00000422843.3 + 16 1941 c.1789G>A c.(1789-1791)Gag>Aag p.E597K ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 597 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E597K(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGCTGGAAAGAGGTCAGTGG 0.522000 T SYK peripheral T-cell lymphoma 74 173 0 0 0.00361006 0 0 CRB1 23418 broad.mit.edu 37 1 197298036 197298036 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:197298036G>A ENST00000367400.3 + 2 690 c.555G>A c.(553-555)ttG>ttA p.L185L CRB1_ENST00000535699.1_Silent_p.L116L|CRB1_ENST00000367399.2_Silent_p.L185L|CRB1_ENST00000538660.1_Silent_p.L185L NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 185 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ACTGCGACTTGGAAGTGGATG 0.483000 12 28 0 0 0.000978159 0 0 SPOCK3 50859 broad.mit.edu 37 4 167713375 167713375 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:167713375C>T ENST00000357154.3 - 8 801 c.664G>A c.(664-666)Gaa>Aaa p.E222K SPOCK3_ENST00000506886.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E171K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E102K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E126K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E219K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E219K NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 222 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) CTTCCACTTTCATGAAGGGCC 0.403000 12 33 0 0 0.00136819 0 0 ZNF160 90338 broad.mit.edu 37 19 53572054 53572054 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53572054G>A ENST00000601421.1 - 3 2501 c.1625C>T c.(1624-1626)tCa>tTa p.S542L ZNF160_ENST00000599056.1_Missense_Mutation_p.S578L|ZNF160_ENST00000429604.1_Missense_Mutation_p.S578L|ZNF160_ENST00000418871.1_Missense_Mutation_p.S578L Q9HCG1 ZN160_HUMAN zinc finger protein 160 578 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TGCAAGTTGTGATGTTTGAGC 0.403000 24 63 0 0 0.001512 0 0 PKD1L2 114780 broad.mit.edu 37 16 81236314 81236314 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:81236314A>G ENST00000599697.1 - 6 933 c.934T>C c.(934-936)Ttc>Ctc p.F312L PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 312 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGAGATGTGAACTGGTGGGTC 0.537000 8 16 0 0 0.00307968 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72509717 72509717 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:72509717C>T ENST00000373208.1 + 16 2412 c.2412C>T c.(2410-2412)ccC>ccT p.P804P ADAMTS14_ENST00000373207.1_Silent_p.P801P NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 801 Spacer. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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 CCAGCGGGCCCCTGCCTGAAG 0.642000 14 35 0 0 0.00400662 0 0 BTN1A1 696 broad.mit.edu 37 6 26509342 26509342 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:26509342G>A ENST00000244513.6 + 7 1587 c.1521G>A c.(1519-1521)agG>agA p.R507R NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 507 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CTGCCCCTAGGGATGCAGACA 0.527000 33 87 0 0 0.00111076 0 0 ZNF276 92822 broad.mit.edu 37 16 89789747 89789747 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:89789747C>T ENST00000568064.1 + 4 682 c.392C>T c.(391-393)cCc>cTc p.P131L ZNF276_ENST00000289816.5_Silent_p.A137A|ZNF276_ENST00000443381.2_Silent_p.A212A|ZNF276_ENST00000446326.2_Missense_Mutation_p.P9L Q8N554 ZN276_HUMAN zinc finger protein 276 212 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GCTGCGGGGCCCTGCCCCACC 0.632000 14 27 0 0 0.00185496 0 0 ADAM29 11086 broad.mit.edu 37 4 175898526 175898526 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:175898526A>T ENST00000359240.3 + 5 2520 c.1850A>T c.(1849-1851)cAt>cTt p.H617L ADAM29_ENST00000514159.1_Missense_Mutation_p.H617L|ADAM29_ENST00000445694.1_Missense_Mutation_p.H617L|ADAM29_ENST00000404450.4_Missense_Mutation_p.H617L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 617 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CACTGTGTCCATATAACCATC 0.423000 31 48 0 0 0.00327116 0 0 RTDR1 27156 broad.mit.edu 37 22 23403994 23403994 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:23403994G>A ENST00000216036.4 - 6 979 c.783C>T c.(781-783)atC>atT p.I261I NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 261 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) CACCTTCAGTGATCACTGTGG 0.597000 13 25 0 0 0.00400662 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720066 13720066 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:13720066G>A ENST00000279593.3 - 12 2700 c.2491C>T c.(2491-2493)Ctc>Ttc p.L831F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 831 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 p.L831I(1) 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) ATGAGGCTGAGAGCCATGGCC 0.512000 19 51 0 0 0.00152264 0 0 TPTE 7179 broad.mit.edu 37 21 10916422 10916422 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:10916422G>A ENST00000298232.7 - 19 1537 c.1170C>T c.(1168-1170)ctC>ctT p.L390L TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L|TPTE_ENST00000361285.4_Silent_p.L408L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 408 Phosphatase 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) GTCTTGGAGGGAGATTCCAGT 0.363000 10 146 0 0 0.00400662 0 0 LRTM1 57408 broad.mit.edu 37 3 54958975 54958975 + Missense_Mutation SNP C C T rs141303357 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:54958975C>T ENST00000273286.5 - 2 437 c.275G>A c.(274-276)gGa>gAa p.G92E CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G16E NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 92 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ATGGAAAGCTCCAGGGGCCAG 0.463000 17 20 0 0 0.00400662 0 0 PRLR 5618 broad.mit.edu 37 5 35070327 35070327 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:35070327C>A ENST00000382002.5 - 7 1010 c.584G>T c.(583-585)aGc>aTc p.S195I PRLR_ENST00000342362.5_Missense_Mutation_p.S94I|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.S195I|PRLR_ENST00000511486.1_Missense_Mutation_p.S94I|PRLR_ENST00000513753.1_Missense_Mutation_p.S195I|PRLR_ENST00000397391.3_Missense_Mutation_p.S124I|PRLR_ENST00000348262.3_Missense_Mutation_p.S195I|PRLR_ENST00000310101.5_Missense_Mutation_p.S195I|PRLR_ENST00000231423.3_Missense_Mutation_p.S195I NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 195 Fibronectin type-III 2. 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) TGGATGTAGGCTGAGAATCTT 0.428000 11 29 9.70103e-10 2.22842e-09 0.000673444 1 0 TNXB 7148 broad.mit.edu 37 6 32052376 32052376 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:32052376C>T ENST00000375244.3 - 8 3460 c.3259G>A c.(3259-3261)Ggc>Agc p.G1087S TNXB_ENST00000375247.2_Missense_Mutation_p.G1087S P22105 TENX_HUMAN tenascin XB 1174 Fibronectin type-III 3. 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 TCAAACTCGCCCTCGGGGACC 0.657000 120 283 0 0 0.00361006 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180738 142180738 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142180738G>A ENST00000390368.2 - 0 186 TGGGCACACTGCAGTGTCATG 0.507000 22 259 0 0 0.000878237 0 0 SPRR4 163778 broad.mit.edu 37 1 152944543 152944543 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152944543C>T ENST00000328051.2 + 2 226 c.177C>T c.(175-177)acC>acT p.T59T NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 59 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CGAAAGGCACCATCATTCCAG 0.527000 21 42 0 0 0.00152264 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510200 77510200 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:77510200C>T ENST00000477717.1 + 3 808 c.573C>T c.(571-573)ctC>ctT p.L191L NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 191 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 ACCTGCATCTCCTGAGCCAGG 0.587000 42 82 0 0 0.00222228 0 0 VILL 50853 broad.mit.edu 37 3 38043243 38043243 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38043243G>A ENST00000283713.6 + 13 1637 c.1371G>A c.(1369-1371)gaG>gaA p.E457E VILL_ENST00000383759.2_Silent_p.E457E|VILL_ENST00000465644.1_Silent_p.E175E O15195 VILL_HUMAN villin-like 457 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCAACGCTGAGGAACTAGATG 0.612000 12 21 0 0 0.00185496 0 0 MMS22L 253714 broad.mit.edu 37 6 97610003 97610003 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:97610003G>A ENST00000275053.4 - 22 3525 c.3260C>T c.(3259-3261)cCt>cTt p.P1087L MMS22L_ENST00000369251.2_Missense_Mutation_p.P1047L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1087 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGCTAAGCGAGGAGGAGGTGA 0.413000 16 26 0 0 0.00074312 0 0 PCLO 27445 broad.mit.edu 37 7 82579822 82579822 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:82579822G>A ENST00000423517.2 - 6 10419 c.10082C>T c.(10081-10083)gCt>gTt p.A3361V PCLO_ENST00000333891.8_Missense_Mutation_p.A3361V|PCLO_ENST00000437081.1_Missense_Mutation_p.A81V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3292 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 TGCCACAACAGCTGAAGCTGT 0.483000 13 7 0 0 0.00136819 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450857 85450857 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:85450857G>A ENST00000393217.2 + 8 2347 c.2286G>A c.(2284-2286)aaG>aaA p.K762K NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 762 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCAACAAAAGAAAATTGTTA 0.378000 69 136 0 0 0.00361006 0 0 DCAF5 8816 broad.mit.edu 37 14 69521269 69521269 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:69521269G>A ENST00000341516.5 - 9 2281 c.2134C>T c.(2134-2136)Cta>Tta p.L712L DCAF5_ENST00000557386.1_Silent_p.L711L|DCAF5_ENST00000556847.1_Silent_p.L630L|DCAF5_ENST00000554215.1_Silent_p.L630L NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 712 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GCTATGTTTAGACAGGCTTCC 0.547000 50 87 0 0 0.00361006 0 0 PACSIN2 11252 broad.mit.edu 37 22 43287005 43287005 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:43287005G>A ENST00000263246.3 - 4 602 c.401C>T c.(400-402)gCt>gTt p.A134V PACSIN2_ENST00000337959.4_Missense_Mutation_p.A134V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A134V|PACSIN2_ENST00000403744.3_Missense_Mutation_p.A134V|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A134V NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 134 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GCCGTCCTCAGCTTCCTTGGT 0.557000 12 17 0 0 0.00185496 0 0 SIN3B 23309 broad.mit.edu 37 19 16962282 16962282 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:16962282C>T ENST00000379803.1 + 6 800 c.786C>T c.(784-786)acC>acT p.T262T SIN3B_ENST00000248054.5_Silent_p.T262T|SIN3B_ENST00000596802.1_Silent_p.T262T NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 262 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACGACAAGACCCCGGAGCACA 0.652000 23 52 0 0 0.00229938 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55330026 55330026 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55330026C>T ENST00000391728.4 + 3 360 c.327C>T c.(325-327)ccC>ccT p.P109P KIR3DL1_ENST00000326542.7_Silent_p.P109P|KIR3DL1_ENST00000541392.1_Silent_p.P109P|KIR3DL1_ENST00000538269.1_Silent_p.P109P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Silent_p.P109P NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.P109P(2) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GGTCGGCACCCAGCAACCCCG 0.602000 24 69 0 0 0.00332997 0 0 BDH1 622 broad.mit.edu 37 3 197238877 197238877 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:197238877G>A ENST00000392379.1 - 8 1322 c.921C>T c.(919-921)acC>acT p.T307T BDH1_ENST00000358186.2_Silent_p.T307T|BDH1_ENST00000392378.2_Silent_p.T307T|BDH1_ENST00000441275.1_Silent_p.T220T NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 307 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity p.T307T(1) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GGGTGGTGGCGGTCAGGGCGT 0.562000 51 78 0 0 0.00361006 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147032 55147032 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:55147032G>A ENST00000370862.3 + 7 1451 c.1115G>A c.(1114-1116)cGa>cAa p.R372Q NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 372 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGAAAATTTCGAGAGGAATTT 0.453000 7 18 0 0 0.00198382 0 0 SLC22A5 6584 broad.mit.edu 37 5 131728257 131728257 + Missense_Mutation SNP C C T rs60376624 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:131728257C>T ENST00000245407.3 + 8 1621 c.1400C>T c.(1399-1401)tCc>tTc p.S467F SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.S491F NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 467 S -> C (in CDSP; reduces L-carnitine uptake). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GGAGTCAGCTCCACAGCATCC 0.552000 24 32 0 0 0.00332997 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753299 18753299 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:18753299G>A ENST00000380548.4 + 16 2349 c.2010G>A c.(2008-2010)tgG>tgA p.W670* NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 670 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCAGGTGGGAAATTGGCA 0.483000 4 5 0 0 0.00024832 0 0 SSTR1 6751 broad.mit.edu 37 14 38678944 38678944 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:38678944C>A ENST00000267377.2 + 3 967 c.350C>A c.(349-351)tCc>tAc p.S117Y NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 117 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTAGTCACCTCCACGTTGTTG 0.577000 37 95 1.62957e-23 3.78152e-23 0.00195071 1 0 RP11-704M14.1 0 broad.mit.edu 37 4 70080530 70080530 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:70080530C>T ENST00000505646.1 + 0 694 AATATAACTCCTCCAATCCAA 0.338000 11 23 0 0 0.000673444 0 0 BEND5 79656 broad.mit.edu 37 1 49202121 49202121 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:49202121G>A ENST00000371833.3 - 5 984 c.898C>T c.(898-900)Cat>Tat p.H300Y AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 300 large_intestine(5)|lung(2)|skin(1) 8 CTTCCCAGATGGACCTGAGAG 0.478000 16 48 0 0 0.000566183 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785429 22785429 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:22785429G>A ENST00000600260.1 + 0 1518 NR_033899.1 GCTGATGCAGGAAAAGGTGGA 0.582000 15 41 0 0 0.00244969 0 0 CCDC88C 440193 broad.mit.edu 37 14 91875053 91875053 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:91875053G>A ENST00000389857.6 - 3 306 c.220C>T c.(220-222)Cgc>Tgc p.R74C CCDC88C_ENST00000389856.5_Missense_Mutation_p.R66C|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.R74C NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 74 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTCTGAATGCGAAGGTTCACA 0.458000 8 28 0 0 0.000274275 0 0 GLI2 2736 broad.mit.edu 37 2 121747129 121747129 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:121747129C>T ENST00000452319.1 + 14 3699 c.3639C>T c.(3637-3639)tcC>tcT p.S1213S GLI2_ENST00000361492.4_Silent_p.S1213S|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1213 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) GAGCCCCCTCCCAGGGCATCC 0.662000 5 10 0 0 0.000602214 0 0 SLC22A5 6584 broad.mit.edu 37 5 131728258 131728258 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:131728258C>T ENST00000245407.3 + 8 1622 c.1401C>T c.(1399-1401)tcC>tcT p.S467S SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Silent_p.S491S NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 467 S -> C (in CDSP; reduces L-carnitine uptake). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GAGTCAGCTCCACAGCATCCC 0.547000 22 31 0 0 0.00229938 0 0 AQP8 343 broad.mit.edu 37 16 25232851 25232851 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:25232851C>T ENST00000219660.5 + 3 459 c.334C>T c.(334-336)Ccg>Tcg p.P112S AQP8_ENST00000566125.1_Missense_Mutation_p.P106S NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 112 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) GATGCTCCTCCCGTACTGGGT 0.622000 28 61 0 0 0.001512 0 0 COL4A5 1287 broad.mit.edu 37 X 107821328 107821328 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:107821328C>T ENST00000328300.6 + 12 910 c.666C>T c.(664-666)ttC>ttT p.F222F COL4A5_ENST00000361603.2_Silent_p.F222F NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 222 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCTTAAATTTCCAGGGACCCA 0.363000 Alport syndrome with Diffuse Leiomyomatosis 17 3 0 0 0.000958276 0 0 FAM71A 149647 broad.mit.edu 37 1 212799772 212799772 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:212799772G>A ENST00000294829.3 + 1 1984 c.1553G>A c.(1552-1554)gGt>gAt p.G518D RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 518 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ACCAGTTCCGGTTCCAGCAAG 0.542000 20 37 0 0 0.00121646 0 0 ERC2 26059 broad.mit.edu 37 3 56026138 56026138 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:56026138C>T ENST00000288221.6 - 11 2457 c.2202G>A c.(2200-2202)aaG>aaA p.K734K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 734 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCTCCACCTCCTTGAGGATCT 0.468000 73 108 0 0 0.00361006 0 0 HIP1 3092 broad.mit.edu 37 7 75174449 75174449 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:75174449G>A ENST00000336926.6 - 26 2623 c.2597C>T c.(2596-2598)tCt>tTt p.S866F HIP1_ENST00000434438.2_Missense_Mutation_p.S815F NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 866 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGTCCATCGAGAGTTCTTGGC 0.463000 T PDGFRB CMML 41 56 0 0 0.00361006 0 0 DSP 1832 broad.mit.edu 37 6 7584254 7584254 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:7584254C>T ENST00000379802.3 + 24 7100 c.6759C>T c.(6757-6759)ttC>ttT p.F2253F DSP_ENST00000418664.2_Silent_p.F1654F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2253 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) TTAAGGACTTCCTCCAGGGTT 0.443000 15 34 0 0 0.00244969 0 0 PTPRD 5789 broad.mit.edu 37 9 8492971 8492971 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:8492971G>A ENST00000381196.4 - 24 2901 c.2358C>T c.(2356-2358)atC>atT p.I786I PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.I786I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Silent_p.I773I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Silent_p.I786I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Silent_p.I764I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 786 Fibronectin type-III 5. 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) GCCCAGAAATGATCATGTCCT 0.483000 TSP Lung(15;0.13) 31 27 0 0 0.00375469 0 0 CAMK4 814 broad.mit.edu 37 5 110819752 110819752 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:110819752C>T ENST00000282356.4 + 11 1408 c.1010C>T c.(1009-1011)tCg>tTg p.S337L CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.S337L NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 337 Calmodulin-binding (Potential). 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) GTGGCCTCTTCGCGCCTGGGA 0.557000 20 40 0 0 0.00152264 0 0 DNAJC10 54431 broad.mit.edu 37 2 183582833 183582833 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:183582833A>T ENST00000264065.6 + 3 435 c.20A>T c.(19-21)aAa>aTa p.K7I DNAJC10_ENST00000537515.1_Missense_Mutation_p.K7I|DNAJC10_ENST00000469118.1_Intron NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 7 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGGTTAAATAAAGATGACTAT 0.343000 8 30 0 0 0.000978159 0 0 GUCY2C 2984 broad.mit.edu 37 12 14778782 14778782 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:14778782G>A ENST00000261170.3 - 21 2453 c.2317C>T c.(2317-2319)Cga>Tga p.R773* NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 773 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.R773R(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TCCAGGTTTCGAGAATATAGC 0.408000 28 56 0 0 0.00178596 0 0 BPIFB4 149954 broad.mit.edu 37 20 31685474 31685474 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:31685474C>T ENST00000375483.3 + 11 1450 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 484 cytoplasm|extracellular region lipid binding GATCCAGGTGCTGAACCCACC 0.587000 35 55 0 0 0.00111076 0 0 KCNH5 27133 broad.mit.edu 37 14 63416994 63416994 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:63416994C>T ENST00000322893.7 - 7 1494 c.1226G>A c.(1225-1227)tGg>tAg p.W409* KCNH5_ENST00000394964.2_Nonsense_Mutation_p.W351*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W351*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W409* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 409 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) TCCTCCTTCCCATATCCCAGC 0.458000 21 47 0 0 0.00278032 0 0 CCDC39 339829 broad.mit.edu 37 3 180377491 180377491 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:180377491C>T ENST00000273654.4 - 11 1454 c.835G>A c.(835-837)Gaa>Aaa p.E279K CCDC39_ENST00000442201.2_Missense_Mutation_p.E195K Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 195 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTGTAAGTTCGTTGTCAAGT 0.308000 12 76 0 0 0.00244969 0 0 RNF125 54941 broad.mit.edu 37 18 29617132 29617132 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:29617132C>T ENST00000217740.3 + 2 710 c.218C>T c.(217-219)cCt>cTt p.P73L RP11-53I6.2_ENST00000583184.1_RNA NM_017831.3 NP_060301.2 Q96EQ8 RN125_HUMAN ring finger protein 125, E3 ubiquitin protein ligase 73 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TGGACCTGTCCTTATTGCCGG 0.433000 45 119 0 0 0.00361006 0 0 THSD7B 80731 broad.mit.edu 37 2 138033582 138033582 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:138033582G>A ENST00000409968.1 + 12 2664 c.2486G>A c.(2485-2487)gGg>gAg p.G829E THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G829E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G798E 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) TGTGGAAAGGGGTTACAAACA 0.388000 11 25 0 0 0.000978159 0 0 PRSS38 339501 broad.mit.edu 37 1 228005126 228005126 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:228005126G>A ENST00000366757.3 + 3 552 c.528G>A c.(526-528)gtG>gtA p.V176V NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 176 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTCCAGAAGTGAACCTTACCA 0.552000 35 26 0 0 0.00375469 0 0 TECTA 7007 broad.mit.edu 37 11 121037453 121037453 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:121037453C>T ENST00000392793.1 + 18 5821 c.5550C>T c.(5548-5550)atC>atT p.I1850I TECTA_ENST00000264037.2_Silent_p.I1850I O75443 TECTA_HUMAN tectorin alpha 1850 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTTTCAGATCAACAACACCA 0.507000 22 24 0 0 0.00188189 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42797717 42797717 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:42797717C>T ENST00000314073.5 + 6 1822 c.1646C>T c.(1645-1647)gCc>gTc p.A549V GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A549V GLTSCR1-like GCCAGCACTGCCCATCCTAGT 0.547000 9 31 0 0 0.000274275 0 0 DNAH1 25981 broad.mit.edu 37 3 52426493 52426493 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:52426493C>T ENST00000420323.2 + 64 10327 c.10066C>T c.(10066-10068)Cag>Tag p.Q3356* NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3421 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTAGAGGACCAGCTACTGGG 0.612000 9 33 0 0 0.000442599 0 0 TNIP1 10318 broad.mit.edu 37 5 150436501 150436501 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:150436501G>A ENST00000389378.2 - 6 1041 c.453C>T c.(451-453)ccC>ccT p.P151P TNIP1_ENST00000522226.1_Silent_p.P151P|TNIP1_ENST00000523200.1_Silent_p.P151P|TNIP1_ENST00000315050.7_Silent_p.P151P|TNIP1_ENST00000523338.1_Silent_p.P151P|TNIP1_ENST00000520931.1_Silent_p.P98P|TNIP1_ENST00000521591.1_Silent_p.P151P|TNIP1_ENST00000524280.1_Silent_p.P151P|TNIP1_ENST00000518977.1_Silent_p.P151P NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 151 Interacts with Nef. P -> A (in dbSNP:rs2233290). defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTCCTCACGGGGCAGGGGGC 0.667000 10 16 0 0 0.000442599 0 0 FBXO46 23403 broad.mit.edu 37 19 46215197 46215197 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:46215197C>T ENST00000317683.3 - 2 1690 c.1557G>A c.(1555-1557)tgG>tgA p.W519* NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 519 F-box. protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGTCTCGGCTCCAGCGCGAGT 0.667000 6 7 0 0 0.00116845 0 0 SHISA3 152573 broad.mit.edu 37 4 42403086 42403086 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:42403086T>G ENST00000319234.4 + 2 553 c.335T>G c.(334-336)cTg>cGg p.L112R NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 112 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 TTCATCATCCTGGGCTCTGTA 0.502000 57 90 0 0 0.00361006 0 0 OR2F1 26211 broad.mit.edu 37 7 143657942 143657942 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143657942G>A ENST00000392899.1 + 1 916 c.879G>A c.(877-879)agG>agA p.R293R NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) ACAGCCTAAGGAATAAAGAGG 0.443000 15 29 0 0 0.00316338 0 0 MUC16 94025 broad.mit.edu 37 19 9049196 9049196 + Missense_Mutation SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9049196G>T ENST00000397910.4 - 5 32638 c.32435C>A c.(32434-32436)aCa>aAa p.T10812K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10814 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 AGGGGAGTTTGTCAGAGCTCG 0.488000 41 103 8.01111e-26 1.86379e-25 0.0025221 1 0 SATB1 6304 broad.mit.edu 37 3 18390941 18390941 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:18390941G>A ENST00000338745.6 - 11 3747 c.2013C>T c.(2011-2013)gaC>gaT p.D671D SATB1_ENST00000454909.2_Silent_p.D671D|SATB1_ENST00000417717.2_Silent_p.D703D|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 671 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGGCCTCTTCGTCAGGGTACA 0.517000 33 80 0 0 0.00283554 0 0 ACTC1 70 broad.mit.edu 37 15 35083353 35083353 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:35083353C>T ENST00000290378.4 - 6 1607 c.952G>A c.(952-954)Gaa>Aaa p.E318K RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 318 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCAGTGATTTCCTTCTGCATA 0.453000 68 132 0 0 0.00361006 0 0 AKT2 208 broad.mit.edu 37 19 40740978 40740978 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:40740978G>A ENST00000392038.2 - 13 1638 c.1340C>T c.(1339-1341)tCc>tTc p.S447F AKT2_ENST00000311278.6_Missense_Mutation_p.S404F|AKT2_ENST00000424901.1_Missense_Mutation_p.S447F|AKT2_ENST00000579047.1_Missense_Mutation_p.S385F NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 447 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GATTGTGATGGACTGGGCGGT 0.602000 A """ovarian, pancreatic """ 56 127 0 0 0.00361006 0 0 GRM7 2917 broad.mit.edu 37 3 7340399 7340399 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7340399A>T ENST00000486284.1 + 3 1039 c.765A>T c.(763-765)agA>agT p.R255S GRM7_ENST00000403881.1_Missense_Mutation_p.R255S|GRM7_ENST00000402647.2_Missense_Mutation_p.R255S|GRM7_ENST00000389336.4_Missense_Mutation_p.R255S|GRM7_ENST00000357716.4_Missense_Mutation_p.R255S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 255 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) AGTCCGTGAGAATCCCCCAGG 0.473000 18 38 0 0 0.000958276 0 0 CCNA1 8900 broad.mit.edu 37 13 37014267 37014267 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:37014267C>T ENST00000418263.1 + 6 1392 c.1042C>T c.(1042-1044)Ctt>Ttt p.L348F CCNA1_ENST00000449823.1_Missense_Mutation_p.L305F|CCNA1_ENST00000255465.4_Missense_Mutation_p.L349F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L305F NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 349 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CCAGTTTCTCCTTCAGTACTT 0.463000 49 95 0 0 0.00361006 0 0 DONSON 29980 broad.mit.edu 37 21 34958469 34958469 + Missense_Mutation SNP A A C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:34958469A>C ENST00000453626.1 - 3 425 c.421T>G c.(421-423)Tcc>Gcc p.S141A AP000304.12_ENST00000429238.1_Missense_Mutation_p.L102R|DONSON_ENST00000303113.6_Missense_Mutation_p.S141A|DONSON_ENST00000432378.1_Missense_Mutation_p.S141A|DONSON_ENST00000303071.5_Missense_Mutation_p.S141A Q9NYP3 DONS_HUMAN downstream neighbor of SON 141 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TCAGGCTCGGAGAATGATACA 0.388000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 15 0 0 0.000673444 0 0 FBXO46 23403 broad.mit.edu 37 19 46215198 46215198 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:46215198C>T ENST00000317683.3 - 2 1689 c.1556G>A c.(1555-1557)tGg>tAg p.W519* NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 519 F-box. protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTCTCGGCTCCAGCGCGAGTC 0.662000 6 7 0 0 0.00116845 0 0 TRIM35 23087 broad.mit.edu 37 8 27151620 27151620 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:27151620C>T ENST00000305364.4 - 3 822 c.739G>A c.(739-741)Gag>Aag p.E247K TRIM35_ENST00000521253.1_Missense_Mutation_p.E215K NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 247 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACGTCGTCCTCCTTCATCTCC 0.567000 14 44 0 0 0.00316338 0 0 MKL2 57496 broad.mit.edu 37 16 14340567 14340567 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:14340567G>A ENST00000571589.1 + 12 1622 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K MKL2_ENST00000318282.5_Missense_Mutation_p.E484K|MKL2_ENST00000341243.5_Missense_Mutation_p.E473K|MKL2_ENST00000574045.1_Missense_Mutation_p.E484K NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 473 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity p.E484Q(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCAAGGCAGAATTGCCACC 0.507000 18 61 0 0 0.000958276 0 0 SAMD7 344658 broad.mit.edu 37 3 169644379 169644379 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:169644379G>A ENST00000428432.2 + 6 718 c.329G>A c.(328-330)aGa>aAa p.R110K SAMD7_ENST00000335556.3_Missense_Mutation_p.R110K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 110 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAGCAAAGGAGAATGGAAAAA 0.423000 23 25 0 0 0.00106085 0 0 CLASP2 23122 broad.mit.edu 37 3 33673818 33673818 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:33673818A>G ENST00000399362.4 - 9 1261 c.908T>C c.(907-909)tTt>tCt p.F303S CLASP2_ENST00000461133.3_Missense_Mutation_p.F70S|CLASP2_ENST00000359576.5_Missense_Mutation_p.F303S|CLASP2_ENST00000480013.1_Missense_Mutation_p.F70S|CLASP2_ENST00000313350.6_Missense_Mutation_p.F76S|CLASP2_ENST00000333778.6_Missense_Mutation_p.F80S|CLASP2_ENST00000487200.1_Missense_Mutation_p.F76S|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000468888.2_Missense_Mutation_p.F304S|CLASP2_ENST00000539981.1_Intron|CLASP2_ENST00000307312.7_5'UTR NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 304 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 AGCTTTTATAAAATCATCTTC 0.378000 6 9 0 0 0.00307968 0 0 MERTK 10461 broad.mit.edu 37 2 112785928 112785928 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:112785928G>A ENST00000295408.4 + 19 2744 c.2486_splice c.e19-1 p.L829_splice MERTK_ENST00000409780.1_Splice_Site_p.L653_splice|MERTK_ENST00000421804.2_Splice_Site_p.L829_splice Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 829 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TAACTTTCAGGTATGAAATAA 0.408000 18 30 0 0 0.00074312 0 0 KRT84 3890 broad.mit.edu 37 12 52779212 52779212 + Missense_Mutation SNP C C T rs143172691 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:52779212C>T ENST00000257951.3 - 1 224 c.158G>A c.(157-159)cGg>cAg p.R53Q RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 53 Head. keratin filament structural constituent of epidermis p.R53Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GATGACACTCCGACTACCAAA 0.582000 15 17 0 0 0.00316338 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73064052 73064052 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:73064052C>T ENST00000263674.3 + 3 3798 c.3448C>T c.(3448-3450)Cag>Tag p.Q1150* ARHGEF17_ENST00000536170.1_3'UTR NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1150 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCTGCTCGTCCAGTCGGTGAG 0.662000 14 23 0 0 0.00244969 0 0 CHRM3 1131 broad.mit.edu 37 1 240071792 240071792 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:240071792G>A ENST00000255380.4 + 5 1820 c.1041G>A c.(1039-1041)gaG>gaA p.E347E NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 347 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) CCTCCCTGGAGAACTCCGCCT 0.572000 6 11 0 0 0.00116845 0 0 GRIA1 2890 broad.mit.edu 37 5 153054204 153054204 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:153054204G>A ENST00000285900.5 + 6 1187 c.844G>A c.(844-846)Gac>Aac p.D282N GRIA1_ENST00000518783.1_Missense_Mutation_p.D292N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D213N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D202N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D292N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D282N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 282 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) CACACGGGTGGACTGGAAGAG 0.537000 17 33 0 0 0.00400662 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370342 35370342 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:35370342C>T ENST00000373347.1 - 3 911 c.643G>A c.(643-645)Ggc>Agc p.G215S DLGAP3_ENST00000235180.4_Missense_Mutation_p.G215S O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 215 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) CCTCCAGAGCCCGGGCCGGGG 0.652000 16 19 0 0 0.00316338 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021150 142021150 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142021150C>T ENST00000390381.3 + 0 439 GAGCTGCTCCCCTATCTCTGG 0.498000 6 15 0 0 0.00198382 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017585 161017585 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:161017585G>A ENST00000368013.3 - 12 3546 c.3226C>T c.(3226-3228)Cct>Tct p.P1076S ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P865S|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P899S NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 1076 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGGGGGTCAGGAACCTGGGGT 0.582000 30 52 0 0 0.00127121 0 0 LIFR 3977 broad.mit.edu 37 5 38482161 38482161 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:38482161G>A ENST00000263409.4 - 20 2992 c.2830C>T c.(2830-2832)Cat>Tat p.H944Y LIFR_ENST00000453190.2_Missense_Mutation_p.H944Y NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 944 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACAACCACATGGTTTTCAGGC 0.448000 T PLAG1 salivary adenoma 31 85 0 0 0.00375469 0 0 ITPKB 3707 broad.mit.edu 37 1 226827257 226827257 + Splice_Site SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:226827257C>A ENST00000429204.1 - 6 2881 c.e6+1 ITPKB_ENST00000272117.3_Splice_Site NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCCAGACTCACCAGGATGTTA 0.582000 12 61 1.05317e-09 2.41618e-09 0.00244969 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21054378 21054378 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:21054378G>A ENST00000381545.3 + 15 2061 c.1842G>A c.(1840-1842)agG>agA p.R614R SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R614R|SLCO1B3_ENST00000553473.1_Silent_p.R614R|SLCO1B3_ENST00000261196.2_Silent_p.R614R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 614 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGGCTTGTAGGATATATAATT 0.348000 32 57 0 0 0.00283554 0 0 TMEM104 54868 broad.mit.edu 37 17 72815909 72815909 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:72815909C>T ENST00000335464.5 + 9 819 c.657C>T c.(655-657)ctC>ctT p.L219L TMEM104_ENST00000417024.2_Silent_p.L232L|TMEM104_ENST00000582330.1_Silent_p.L219L|TMEM104_ENST00000582773.1_Silent_p.L219L NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 219 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CTCTCCTCCTCGGACCGTTCA 0.567000 35 13 0 0 0.00111076 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412865 105412865 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:105412865C>T ENST00000333244.5 - 7 9042 c.8923G>A c.(8923-8925)Gac>Aac p.D2975N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2975 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AACTTGCTGTCTTTGGCAGTC 0.607000 83 170 0 0 0.00361006 0 0 ABCC8 6833 broad.mit.edu 37 11 17419306 17419306 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:17419306C>T ENST00000302539.4 - 31 3920 c.3795G>A c.(3793-3795)gtG>gtA p.V1265V ABCC8_ENST00000389817.3_Silent_p.V1264V NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1264 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity 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) AGATGGAGGTCACCGCTGCGA 0.637000 58 115 0 0 0.00361006 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883992 228883992 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:228883992C>T ENST00000392056.3 - 7 1624 c.1578G>A c.(1576-1578)tcG>tcA p.S526S SPHKAP_ENST00000344657.5_Silent_p.S526S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 526 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) GGGGAAAGTTCGAGACCACTT 0.502000 12 21 0 0 0.000978159 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708565 108708565 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:108708565G>A ENST00000218006.2 - 3 1129 c.838C>T c.(838-840)Cct>Tct p.P280S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 280 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCATCATAAGGAACAAAGACG 0.473000 43 21 0 0 0.00321405 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58335605 58335605 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:58335605T>C ENST00000300145.3 + 1 246 c.121T>C c.(121-123)Ttc>Ctc p.F41L NM_033276.2 NP_150592.1 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 41 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 CCAGCAAGGGTTCTTCTCCAG 0.637000 8 16 0 0 0.000274275 0 0 ZNF556 80032 broad.mit.edu 37 19 2876127 2876127 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:2876127C>T ENST00000586426.1 + 3 254 c.167C>T c.(166-168)tCt>tTt p.S56F ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F Q9HAH1 ZN556_HUMAN zinc finger protein 556 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) GGGTCTATTTCTCAGCAGGAT 0.368000 67 112 0 0 0.00361006 0 0 LRRC43 254050 broad.mit.edu 37 12 122687914 122687914 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:122687914C>T ENST00000339777.4 + 12 1924 c.1896C>T c.(1894-1896)ccC>ccT p.P632P LRRC43_ENST00000425921.1_Silent_p.P447P NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 632 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) ACCCTGAGCCCCTGACCGTAG 0.597000 43 51 0 0 0.00361006 0 0 POGK 57645 broad.mit.edu 37 1 166818940 166818940 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:166818940G>A ENST00000367875.1 + 5 1484 c.1124G>A c.(1123-1125)cGg>cAg p.R375Q POGK_ENST00000536514.1_Missense_Mutation_p.R290Q|POGK_ENST00000367876.4_Missense_Mutation_p.R375Q|POGK_ENST00000537173.1_Missense_Mutation_p.R257Q Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 375 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GTGCCATCACGGGTAACTGTT 0.527000 24 28 0 0 0.00395357 0 0 PLCE1 51196 broad.mit.edu 37 10 95791248 95791248 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:95791248T>C ENST00000260766.3 + 2 1079 c.445T>C c.(445-447)Ttc>Ctc p.F149L PLCE1_ENST00000371380.2_Missense_Mutation_p.F149L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 149 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAGAAAGGTGTTCCCTGGAAT 0.443000 20 48 0 0 0.00152264 0 0 ACOXL 55289 broad.mit.edu 37 2 111542337 111542337 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:111542337G>A ENST00000389811.4 + 3 328 c.104G>A c.(103-105)cGa>cAa p.R35Q ACOXL_ENST00000340561.4_Missense_Mutation_p.R35Q|ACOXL_ENST00000439055.1_Missense_Mutation_p.R35Q Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 35 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTTGTCAGCCGAAGCCTTGTC 0.453000 20 32 0 0 0.00395357 0 0 CDCA2 157313 broad.mit.edu 37 8 25341639 25341639 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:25341639C>T ENST00000330560.3 + 10 1755 c.1278C>T c.(1276-1278)ttC>ttT p.F426F CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.F411F NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 426 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAAAAGACTTCAGTGGTCTCA 0.433000 34 56 0 0 0.0024448 0 0 FAM115C 285966 broad.mit.edu 37 7 143417119 143417119 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143417119C>T ENST00000441159.2 + 3 1033 c.967C>T c.(967-969)Ctg>Ttg p.L323L FAM115C_ENST00000425618.2_Silent_p.L42L|FAM115C_ENST00000411935.1_Silent_p.L159L|FAM115C_ENST00000411497.2_Silent_p.L42L|FAM115C_ENST00000357344.4_Silent_p.L323L|FAM115C_ENST00000444908.2_Silent_p.L323L|FAM115C_ENST00000409703.3_Silent_p.L159L A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 323 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 GCAATGCAGCCTGGAGCCCCA 0.572000 11 52 0 0 0.00400662 0 0 DDX60 55601 broad.mit.edu 37 4 169227533 169227533 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:169227533C>T ENST00000393743.3 - 5 894 c.603G>A c.(601-603)tgG>tgA p.W201* NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 201 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GAATTACCTTCCAGGAAAAAA 0.373000 9 15 0 0 0.000442599 0 0 LOC728715 728715 broad.mit.edu 37 12 9716769 9716769 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:9716769G>A ENST00000520314.1 + 0 3964 CCTGCTCTACGAAACGCACTC 0.388000 4 7 0 0 0.00024832 0 0 C10orf71 118461 broad.mit.edu 37 10 50530672 50530672 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:50530672G>A ENST00000374144.3 + 3 370 c.82G>A c.(82-84)Gag>Aag p.E28K C10orf71_ENST00000323868.4_Missense_Mutation_p.E28K Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 28 endometrium(1) 1 TGCAGACAGGGAGGTGAGCAG 0.552000 6 9 0 0 0.00198382 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140855819 140855819 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140855819G>A ENST00000308177.3 + 1 240 c.136G>A c.(136-138)Gct>Act p.A46T PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_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) GAAGGGTTTCGCTGTGGGCAA 0.562000 7 87 0 0 0.00307968 0 0 DENND2A 27147 broad.mit.edu 37 7 140301463 140301463 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:140301463C>T ENST00000275884.6 - 2 1152 c.735G>A c.(733-735)cgG>cgA p.R245R DENND2A_ENST00000492720.1_Silent_p.R245R|DENND2A_ENST00000537639.1_Silent_p.R245R|DENND2A_ENST00000496613.1_Silent_p.R245R Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 245 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTCAAGGCTCCGGTCCCAGG 0.602000 55 92 0 0 0.00361006 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659497 63659497 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:63659497G>A ENST00000523211.1 + 4 412 c.280G>A c.(280-282)Gat>Aat p.D94N NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 94 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CTAGGACACCGATCTAATGAC 0.448000 10 30 0 0 0.000978159 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710915 140710915 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140710915C>T ENST00000517417.1 + 1 664 c.664C>T c.(664-666)Cgt>Tgt p.R222C PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222C NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACCAGTCCGTTCAGGGAC 0.493000 23 23 0 0 0.00332997 0 0 MED13 9969 broad.mit.edu 37 17 60030396 60030396 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:60030396G>A ENST00000397786.2 - 27 6123 c.6047C>T c.(6046-6048)cCt>cTt p.P2016L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2016 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGAGAAGCAGGAAGGATATT 0.418000 45 21 0 0 0.00361006 0 0 CFAP54 144535 broad.mit.edu 37 12 97078897 97078897 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:97078897C>T ENST00000524981.3 + 9 1248 c.1248C>T c.(1246-1248)ctC>ctT p.L416L Q6ZTY8 CL063_HUMAN 390 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 GCCCCTCACTCACCAATGTCA 0.468000 19 27 0 0 0.000958276 0 0 MAGI1 9223 broad.mit.edu 37 3 65350400 65350400 + Splice_Site SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:65350400C>A ENST00000330909.8 - 21 3374 c.3374_splice c.e21-1 p.R1125_splice MAGI1_ENST00000483466.1_Splice_Site_p.R1126_splice|MAGI1_ENST00000402939.2_Splice_Site_p.R1097_splice|MAGI1_ENST00000497477.2_Splice_Site_p.R1030_splice NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1126 PDZ 6. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGTGGTATTCCTGCCAAAGT 0.393000 17 32 1.67942e-08 3.84804e-08 0.00074312 1 0 DYSF 8291 broad.mit.edu 37 2 71791275 71791275 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:71791275C>T ENST00000258104.3 + 24 2720 c.2443C>T c.(2443-2445)Ctc>Ttc p.L815F DYSF_ENST00000429174.2_Missense_Mutation_p.L815F|DYSF_ENST00000409744.1_Missense_Mutation_p.L802F|DYSF_ENST00000413539.2_Missense_Mutation_p.L846F|DYSF_ENST00000410041.1_Missense_Mutation_p.L833F|DYSF_ENST00000409366.1_Missense_Mutation_p.L816F|DYSF_ENST00000410020.3_Missense_Mutation_p.L833F|DYSF_ENST00000409762.1_Missense_Mutation_p.L832F|DYSF_ENST00000409651.1_Missense_Mutation_p.L847F|DYSF_ENST00000394120.2_Missense_Mutation_p.L816F|DYSF_ENST00000409582.3_Missense_Mutation_p.L832F NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 815 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 CCACCAAGTCCTCTTCTCCCG 0.547000 20 53 0 0 0.00152264 0 0 MICAL3 57553 broad.mit.edu 37 22 18304832 18304832 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:18304832C>T ENST00000441493.2 - 24 3764 c.3412G>A c.(3412-3414)Gag>Aag p.E1138K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1138 Glu-rich. 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) GGCAGCTTCTCCTCATCTTCC 0.577000 23 79 0 0 0.000878237 0 0 CSTA 1475 broad.mit.edu 37 3 122056407 122056407 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:122056407T>C ENST00000479204.1 + 2 111 c.80T>C c.(79-81)cTt>cCt p.L27P CSTA_ENST00000264474.3_Missense_Mutation_p.L27P P01040 CYTA_HUMAN cystatin A (stefin A) 27 keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity large_intestine(2)|lung(2) 4 GBM - Glioblastoma multiforme(114;0.155) AAACCACAGCTTGAAGAAAAA 0.358000 29 74 0 0 0.000878237 0 0 STAB2 55576 broad.mit.edu 37 12 104056647 104056647 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:104056647G>A ENST00000388887.2 + 18 2097 c.1893G>A c.(1891-1893)gtG>gtA p.V631V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 631 FAS1 2. 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 CAAATGATGTGGCAATGGAAG 0.453000 31 39 0 0 0.001512 0 0 ALCAM 214 broad.mit.edu 37 3 105271424 105271424 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:105271424G>A ENST00000306107.5 + 14 2159 c.1659G>A c.(1657-1659)aaG>aaA p.K553K ALCAM_ENST00000472644.2_Silent_p.K540K|ALCAM_ENST00000389927.4_Silent_p.K275K|ALCAM_ENST00000486979.2_Silent_p.K502K NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 553 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ACATGAAGAAGTCAAAGTGAG 0.418000 20 44 0 0 0.00121646 0 0 DISP2 85455 broad.mit.edu 37 15 40661934 40661934 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:40661934C>T ENST00000267889.3 + 8 3708 c.3621C>T c.(3619-3621)ccC>ccT p.P1207P NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1207 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GTTCCCGGCCCCCACCAGCCC 0.647000 24 37 0 0 0.00229938 0 0 ZNF662 389114 broad.mit.edu 37 3 42955929 42955929 + Missense_Mutation SNP G G A rs147863526 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:42955929G>A ENST00000541208.1 + 5 733 c.364G>A c.(364-366)Gaa>Aaa p.E122K ZNF662_ENST00000440367.2_Missense_Mutation_p.E122K|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E148K|KRBOX1_ENST00000426937.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TGGATCCCAGGAATTATGGTT 0.438000 16 21 0 0 0.000566183 0 0 GPR149 344758 broad.mit.edu 37 3 154138913 154138913 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154138913C>T ENST00000389740.2 - 3 1637 c.1538G>A c.(1537-1539)aGa>aAa p.R513K NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 513 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGACAGTCTTCTTTCTGGCCC 0.413000 48 54 0 0 0.00285205 0 0 TGM1 7051 broad.mit.edu 37 14 24729713 24729713 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24729713G>A ENST00000206765.6 - 4 823 c.700C>T c.(700-702)Cag>Tag p.Q234* TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 234 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AAGGGCAACTGGAACTCCCCA 0.577000 11 42 0 0 0.00136819 0 0 MAG 4099 broad.mit.edu 37 19 35793435 35793435 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:35793435A>G ENST00000361922.4 + 7 1205 c.1055A>G c.(1054-1056)aAc>aGc p.N352S MAG_ENST00000537831.2_Missense_Mutation_p.N327S|MAG_ENST00000392213.3_Missense_Mutation_p.N352S NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 352 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) ACACAGAGCAACCCGGACCCT 0.602000 16 31 0 0 0.00316338 0 0 HEYL 26508 broad.mit.edu 37 1 40092670 40092670 + Missense_Mutation SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:40092670G>C ENST00000372852.3 - 5 815 c.496C>G c.(496-498)Ccc>Gcc p.P166A HEYL_ENST00000535435.1_Missense_Mutation_p.P138A NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 166 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) GGGCCAGTGGGCGTGGGCGAA 0.652000 14 41 0 0 0.00074312 0 0 PCCA 5095 broad.mit.edu 37 13 100925546 100925546 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:100925546C>T ENST00000376285.1 + 12 1049 c.1011C>T c.(1009-1011)ttC>ttT p.F337F PCCA_ENST00000376279.3_Silent_p.F337F|PCCA_ENST00000376286.4_Silent_p.F311F NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 337 ATP-grasp.|Biotin carboxylation. 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) CCGTGGAGTTCCTTGTGGACT 0.423000 4 18 0 0 0.00024832 0 0 PKP1 5317 broad.mit.edu 37 1 201252992 201252992 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:201252992C>T ENST00000263946.3 + 1 413 c.162C>T c.(160-162)tcC>tcT p.S54S PKP1_ENST00000367324.3_Silent_p.S54S|PKP1_ENST00000352845.3_Silent_p.S54S NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 54 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 GGCAGAAGTCCAAGTCTTCCC 0.627000 12 57 0 0 0.00136819 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963741 148963741 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:148963741G>A ENST00000434415.1 + 2 503 c.340G>A c.(340-342)Gag>Aag p.E114K NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 114 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GAGGCGGCTGGAGAATGTGGA 0.652000 21 66 0 0 0.00395357 0 0 EFHB 151651 broad.mit.edu 37 3 19947122 19947122 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:19947122C>T ENST00000295824.9 - 6 1569 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.E340K NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 470 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ATTTGTAGTTCATGGAGCCAA 0.348000 39 79 0 0 0.00222228 0 0 ZNF816 125893 broad.mit.edu 37 19 53454451 53454451 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53454451G>A ENST00000357666.4 - 5 877 c.577C>T c.(577-579)Caa>Taa p.Q193* ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Nonsense_Mutation_p.Q193* NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GAAATTCTTTGGGATTCTGAA 0.378000 26 40 0 0 0.00332997 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189157 50189157 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:50189157C>G ENST00000335999.6 - 8 2687 c.2486G>C c.(2485-2487)cGa>cCa p.R829P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 825 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 AGCCCCAGGTCGAGGCACCAC 0.627000 21 52 0 0 0.00152264 0 0 MS4A1 931 broad.mit.edu 37 11 60233401 60233401 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:60233401G>A ENST00000534668.1 + 5 633 c.344G>A c.(343-345)gGa>gAa p.G115E MS4A1_ENST00000345732.4_Missense_Mutation_p.G115E|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115E|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 115 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CAGGTCAAAGGAAAAATGATA 0.338000 7 29 0 0 0.00307968 0 0 TIE1 7075 broad.mit.edu 37 1 43784918 43784918 + Missense_Mutation SNP G G A rs45475401 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:43784918G>A ENST00000372476.3 + 18 3014 c.2935G>A c.(2935-2937)Gac>Aac p.D979N TIE1_ENST00000433781.2_Missense_Mutation_p.D624N|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 979 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CATCCACAGGGACCTGGCTGC 0.567000 13 35 0 0 0.00185496 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891621 30891621 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30891621C>T ENST00000392772.2 - 4 298 c.21G>A c.(19-21)gaG>gaA p.E7E SEC14L4_ENST00000540456.1_Silent_p.E46E|SEC14L4_ENST00000255858.7_Silent_p.E61E|SEC14L4_ENST00000381982.3_Silent_p.E61E Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 61 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GCTTCCGGAACTCCATGTGCT 0.602000 33 70 0 0 0.00283554 0 0 ZNF341 84905 broad.mit.edu 37 20 32378973 32378973 + Nonsense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:32378973A>T ENST00000375200.1 + 15 2580 c.2215A>T c.(2215-2217)Aag>Tag p.K739* RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.K732*|RP4-553F4.6_ENST00000443171.1_RNA Q9BYN7 ZN341_HUMAN zinc finger protein 341 739 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCAAAAGGACAAGGACCTGCA 0.662000 7 18 0 0 0.000442599 0 0 COX10 1352 broad.mit.edu 37 17 14110519 14110519 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:14110519C>T ENST00000261643.3 + 7 1398 c.1321C>T c.(1321-1323)Cct>Tct p.P441S COX10_ENST00000536205.1_Missense_Mutation_p.P249S|COX10_ENST00000537334.1_Missense_Mutation_p.P224S NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 441 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CGCAGGGCCCCCTCCCAGCTG 0.647000 5 11 0 0 0.00116845 0 0 FCGR3B 2215 broad.mit.edu 37 1 161594380 161594380 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:161594380G>A ENST00000294800.3 - 5 900 c.627C>T c.(625-627)gtC>gtT p.V209V FCGR3B_ENST00000367964.2_Silent_p.V209V|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Silent_p.V245V|FCGR2B_ENST00000403078.3_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) 209 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) AGCAGAAAGAGACTTGGTACC 0.433000 18 35 0 0 0.00188189 0 0 TATDN1 83940 broad.mit.edu 37 8 125520732 125520732 + Missense_Mutation SNP G G A rs148032742 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:125520732G>A ENST00000276692.6 - 8 536 c.499C>T c.(499-501)Cgg>Tgg p.R167W TATDN1_ENST00000517678.1_Missense_Mutation_p.R113W|TATDN1_ENST00000605953.1_Missense_Mutation_p.R167W|TATDN1_ENST00000519548.1_Missense_Mutation_p.R120W|TATDN1_ENST00000521546.1_5'UTR NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 167 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCTACACACCGATCTCTATTT 0.318000 16 20 0 0 0.00152264 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720055 13720055 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:13720055G>A ENST00000279593.3 - 12 2711 c.2502C>T c.(2500-2502)atC>atT p.I834I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 834 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) AGATGAAGGTGATGAGGCTGA 0.512000 22 48 0 0 0.00332997 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533697 31533697 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:31533697C>T ENST00000215885.3 - 4 1317 c.1066_splice c.e4+1 p.Q355_splice NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 355 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 TGAGCTCACCCTGAGGTTTTA 0.592000 37 85 0 0 0.00111076 0 0 C1orf65 164127 broad.mit.edu 37 1 223568461 223568461 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:223568461G>A ENST00000366875.3 + 1 1747 c.1644G>A c.(1642-1644)ctG>ctA p.L548L NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 548 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TCCTGAAACTGAAAGCCGAGA 0.532000 22 51 0 0 0.00188189 0 0 DSC2 1824 broad.mit.edu 37 18 28669437 28669437 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:28669437G>A ENST00000280904.6 - 5 1038 c.595C>T c.(595-597)Cgt>Tgt p.R199C DSC2_ENST00000251081.6_Missense_Mutation_p.R199C NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 199 Cadherin 1. 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) TCTACAGGACGAGTACAATAC 0.378000 23 31 0 0 0.00332997 0 0 YIPF7 285525 broad.mit.edu 37 4 44638057 44638057 + Silent SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:44638057T>A ENST00000332990.5 - 3 250 c.234A>T c.(232-234)tcA>tcT p.S78S NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 78 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 TGAGCATCTCTGATGGAACAA 0.393000 12 34 0 0 0.00244969 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105915153 105915153 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:105915153G>A ENST00000393359.2 - 3 1124 c.698C>T c.(697-699)gCc>gTc p.A233V TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A233V Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 233 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TGCGACTGTGGCAAACATGCC 0.532000 7 16 0 0 0.00198382 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242405 87242405 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:87242405G>A ENST00000297524.3 - 1 205 c.102C>T c.(100-102)tcC>tcT p.S34S SLC7A13_ENST00000419776.2_Silent_p.S34S|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 34 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CACCTTTGGGGGACACAAAAA 0.468000 32 42 0 0 0.00178596 0 0 HRH2 3274 broad.mit.edu 37 5 175111211 175111211 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:175111211C>T ENST00000231683.2 + 1 2748 c.975C>T c.(973-975)tcC>tcT p.S325S HRH2_ENST00000377291.2_Silent_p.S325S NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 325 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) 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) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTCAGCTGTCCAGGACCCAAA 0.597000 14 42 0 0 0.00185496 0 0 GABRB3 2562 broad.mit.edu 37 15 26828491 26828491 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:26828491C>T ENST00000541819.2 - 6 802 c.700G>A c.(700-702)Gaa>Aaa p.E234K GABRB3_ENST00000400188.3_Missense_Mutation_p.E107K|GABRB3_ENST00000311550.5_Missense_Mutation_p.E178K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E178K|GABRB3_ENST00000545868.1_Missense_Mutation_p.E93K P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 178 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 NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTTTCAATTTCCAGAGTGCAG 0.428000 22 46 0 0 0.00229938 0 0 SLC38A3 10991 broad.mit.edu 37 3 50256311 50256311 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:50256311G>A ENST00000420502.1 + 0 1390 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TATTGCCGTTGGCCTGCTCAC 0.587000 7 31 0 0 0.00307968 0 0 CPSF3 51692 broad.mit.edu 37 2 9595848 9595848 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:9595848C>T ENST00000460593.1 + 13 2592 c.1454C>T c.(1453-1455)cCc>cTc p.P485L CPSF3_ENST00000238112.3_Missense_Mutation_p.P522L Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 522 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TATACTGGTCCCTTTAATTTG 0.383000 16 43 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179649008 179649008 + Missense_Mutation SNP A A C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179649008A>C ENST00000589042.1 - 16 2788 c.2564T>G c.(2563-2565)aTc>aGc p.I855S TTN_ENST00000460472.2_Missense_Mutation_p.I809S|TTN_ENST00000359218.5_Missense_Mutation_p.I809S|TTN_ENST00000342175.6_Missense_Mutation_p.I809S|TTN_ENST00000342992.6_Missense_Mutation_p.I855S|TTN_ENST00000360870.5_Missense_Mutation_p.I855S|TTN_ENST00000591111.1_Missense_Mutation_p.I855S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 855 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) CGATTTGGTGATCTTCTGAGC 0.483000 18 26 0 0 0.00074312 0 0 NIM1K 167359 broad.mit.edu 37 5 43280373 43280373 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:43280373G>A ENST00000512796.1 + 4 2352 c.853G>A c.(853-855)Gag>Aag p.E285K NIM1_ENST00000326035.2_Missense_Mutation_p.E285K Q8IY84 NIM1_HUMAN 285 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity GAGCATCCTCGAGGGCACATA 0.567000 11 19 0 0 0.000978159 0 0 XIRP1 165904 broad.mit.edu 37 3 39226637 39226637 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:39226637C>T ENST00000340369.3 - 2 4528 c.4300G>A c.(4300-4302)Gat>Aat p.D1434N XIRP1_ENST00000421646.1_Missense_Mutation_p.D117N|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1434 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) GAGGTGGGATCATGGTTGAGG 0.632000 35 46 0 0 0.00428921 0 0 ANK3 288 broad.mit.edu 37 10 61926631 61926631 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61926631C>T ENST00000280772.1 - 22 2693 c.2502G>A c.(2500-2502)atG>atA p.M834I ANK3_ENST00000503366.1_Missense_Mutation_p.M817I|ANK3_ENST00000460468.1_Start_Codon_SNP_p.M1I|ANK3_ENST00000373827.2_Missense_Mutation_p.M828I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 834 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 CTGGAACATTCATTTTGTGCT 0.318000 22 43 0 0 0.00278032 0 0 ASH2L 9070 broad.mit.edu 37 8 37986355 37986355 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:37986355C>T ENST00000343823.6 + 12 1722 c.1413C>T c.(1411-1413)tcC>tcT p.S471S ASH2L_ENST00000428278.2_Silent_p.S377S|ASH2L_ENST00000521652.1_Silent_p.S377S|ASH2L_ENST00000545394.1_Silent_p.S332S|ASH2L_ENST00000250635.7_Silent_p.S377S NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 471 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TCCACCAGTCCATTGGCAAAC 0.428000 69 170 0 0 0.00361006 0 0 FAM135B 51059 broad.mit.edu 37 8 139263132 139263132 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:139263132G>A ENST00000395297.1 - 6 664 c.494C>T c.(493-495)tCg>tTg p.S165L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 165 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) GACGGTCACCGAGATCACAGA 0.582000 HNSCC(54;0.14) 34 67 0 0 0.0024448 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051299 85051299 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:85051299G>A ENST00000335459.5 - 5 1170 c.965C>T c.(964-966)cCc>cTc p.P322L TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Missense_Mutation_p.P371L NM_001080824.1 NP_001074293.1 TraB domain containing 2A GGACAGAGTGGGCCGTGTGGA 0.567000 10 20 0 0 0.00136819 0 0 ANKS3 124401 broad.mit.edu 37 16 4774810 4774810 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:4774810G>A ENST00000304283.4 - 6 808 c.514C>T c.(514-516)Ccc>Tcc p.P172S ANKS3_ENST00000592711.1_Missense_Mutation_p.P65S|ANKS3_ENST00000446014.2_Missense_Mutation_p.P43S|ANKS3_ENST00000585773.1_Missense_Mutation_p.P99S|ANKS3_ENST00000450067.2_Intron NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 172 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TCCATCAAGGGAGTAAATCCA 0.473000 11 21 0 0 0.00136819 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518707 41518707 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:41518707C>T ENST00000324071.4 + 8 1288 c.1281C>T c.(1279-1281)atC>atT p.I427I CYP2B6_ENST00000593831.1_Silent_p.I191I|CYP2B6_ENST00000330446.5_Silent_p.I227I NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 427 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAGCTTTTATCCCCTTCTCCT 0.463000 50 124 0 0 0.00361006 0 0 BRCA2 675 broad.mit.edu 37 13 32914811 32914811 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:32914811C>T ENST00000544455.1 + 11 6546 c.6319C>T c.(6319-6321)Cct>Tct p.P2107S BRCA2_ENST00000380152.3_Missense_Mutation_p.P2107S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2107 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) AAAAATACTTCCTCGTGTTGA 0.333000 """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) 16 40 0 0 0.00316338 0 0 AFF3 3899 broad.mit.edu 37 2 100199407 100199407 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:100199407G>A ENST00000317233.4 - 16 2881 c.2646C>T c.(2644-2646)ccC>ccT p.P882P AFF3_ENST00000409579.1_Silent_p.P907P|AFF3_ENST00000409236.1_Silent_p.P882P|AFF3_ENST00000356421.2_Silent_p.P907P NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 882 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CATCAGAGAGGGGTGAGATGG 0.418000 15 37 0 0 0.00074312 0 0 CCKAR 886 broad.mit.edu 37 4 26483390 26483390 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:26483390G>A ENST00000295589.3 - 5 1351 c.1157C>T c.(1156-1158)cCc>cTc p.P386L NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 386 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) GGGGCAGCAGGGGAAGGTGGC 0.622000 18 69 0 0 0.000566183 0 0 USH2A 7399 broad.mit.edu 37 1 216138689 216138689 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:216138689G>A ENST00000366943.2 - 37 7476 c.7090C>T c.(7090-7092)Ctt>Ttt p.L2364F USH2A_ENST00000307340.3_Missense_Mutation_p.L2364F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2364 Fibronectin type-III 10. 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) CCAGTGAAAAGGACTGAGTGT 0.363000 HNSCC(13;0.011) 31 57 0 0 0.00327116 0 0 ZNF300 91975 broad.mit.edu 37 5 150276484 150276484 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:150276484G>A ENST00000446148.2 - 7 792 c.365C>T c.(364-366)tCc>tTc p.S122F ZNF300_ENST00000418587.2_Missense_Mutation_p.S70F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S106F|ZNF300_ENST00000394226.2_Missense_Mutation_p.S106F NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGATGGAAGGAAACTGTCCC 0.388000 19 35 0 0 0.00152264 0 0 NPY2R 4887 broad.mit.edu 37 4 156135297 156135297 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:156135297C>T ENST00000329476.3 + 2 695 c.206C>T c.(205-207)tCc>tTc p.S69F NPY2R_ENST00000506608.1_Missense_Mutation_p.S69F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 69 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ATTGGCAACTCCTTGGTGATC 0.453000 15 39 0 0 0.00244969 0 0 SCN9A 6335 broad.mit.edu 37 2 167060472 167060472 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:167060472G>A ENST00000375387.4 - 26 5110 c.4770C>T c.(4768-4770)tcC>tcT p.S1590S SCN9A_ENST00000409672.1_Silent_p.S1578S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.S1589S|SCN9A_ENST00000303354.6_Silent_p.S1590S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1589 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TACCTACAATGGAGATAATCA 0.323000 5 7 0 0 0.00116845 0 0 STEAP4 79689 broad.mit.edu 37 7 87913151 87913151 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:87913151C>T ENST00000380079.4 - 2 535 c.434G>A c.(433-435)gGa>gAa p.G145E AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G145E|STEAP4_ENST00000414498.1_Missense_Mutation_p.G145E NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 145 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ATCCAGTGCTCCTGACTGGAG 0.418000 29 23 0 0 0.0024448 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499498 34499498 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:34499498G>A ENST00000538621.1 + 9 1404 c.1159G>A c.(1159-1161)Gga>Aga p.G387R PACSIN1_ENST00000374043.2_Missense_Mutation_p.G345R|PACSIN1_ENST00000244458.2_Missense_Mutation_p.G387R NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 387 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CGACTCCAAGGGAGTGCGCGT 0.657000 37 81 0 0 0.00170553 0 0 TENM2 57451 broad.mit.edu 37 5 167675128 167675128 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:167675128G>A ENST00000519204.1 + 26 6939 c.6821G>A c.(6820-6822)gGg>gAg p.G2274E TENM2_ENST00000518659.1_Missense_Mutation_p.G2395E|TENM2_ENST00000520394.1_Missense_Mutation_p.G2156E|TENM2_ENST00000403607.2_Missense_Mutation_p.G2219E|TENM2_ENST00000545108.1_Missense_Mutation_p.G2394E teneurin transmembrane protein 2 ACGGCCTATGGGGAGATTTAT 0.532000 45 98 0 0 0.00361006 0 0 TCAIM 285343 broad.mit.edu 37 3 44441962 44441962 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:44441962C>T ENST00000342649.4 + 9 1428 c.1001C>T c.(1000-1002)cCa>cTa p.P334L TCAIM_ENST00000417237.1_Missense_Mutation_p.P334L NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial GAATTACAGCCAGTATTGACA 0.338000 18 45 0 0 0.00074312 0 0 SCPEP1 59342 broad.mit.edu 37 17 55062798 55062798 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:55062798C>T ENST00000262288.3 + 3 340 c.285C>T c.(283-285)gaC>gaT p.D95D SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 95 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) GGCCCCTTGACAGTGATCTCA 0.512000 36 19 0 0 0.0025221 0 0 TDRD5 163589 broad.mit.edu 37 1 179631298 179631298 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:179631298G>A ENST00000444136.1 + 15 2632 c.2382G>A c.(2380-2382)tgG>tgA p.W794* TDRD5_ENST00000294848.8_Nonsense_Mutation_p.W740*|TDRD5_ENST00000367614.1_Nonsense_Mutation_p.W740* NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 792 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 ATGATATTTGGGATGAGAACT 0.423000 15 35 0 0 0.00121646 0 0 WNT3A 89780 broad.mit.edu 37 1 228238380 228238380 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:228238380C>T ENST00000284523.1 + 3 415 c.337C>T c.(337-339)Cac>Tac p.H113Y WNT3A_ENST00000366753.2_Missense_Mutation_p.H113Y NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 113 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GGCCTTTGTCCACGCCATTGC 0.627000 11 50 0 0 0.000673444 0 0 CTSF 8722 broad.mit.edu 37 11 66332102 66332102 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:66332102G>A ENST00000310325.5 - 11 1357 c.1248C>T c.(1246-1248)atC>atT p.I416I NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 416 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGGGCGGGAGATCCCGTGGC 0.627000 5 6 0 0 0.000602214 0 0 MTUS2 23281 broad.mit.edu 37 13 29600696 29600696 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:29600696G>A ENST00000431530.3 + 1 1949 c.1891G>A c.(1891-1893)Gaa>Aaa p.E631K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 621 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTATCAGGTTGAAAAAACAGA 0.522000 14 17 0 0 0.00244969 0 0 JAGN1 84522 broad.mit.edu 37 3 9934782 9934782 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:9934782C>T ENST00000307768.4 + 2 442 c.273C>T c.(271-273)tcC>tcT p.S91S NM_032492.3 NP_115881.3 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 (Drosophila) 91 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) GCCTTCTCTCCTTTCCCCGCA 0.517000 14 17 0 0 0.00185496 0 0 PADI3 51702 broad.mit.edu 37 1 17588638 17588638 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:17588638C>T ENST00000375460.3 + 3 324 c.284C>T c.(283-285)tCc>tTc p.S95F NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 95 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTTCAGATTTCCTACCACTCC 0.577000 7 23 0 0 0.000442599 0 0 CYTIP 9595 broad.mit.edu 37 2 158300434 158300434 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:158300434G>A ENST00000264192.3 - 1 220 c.99C>T c.(97-99)agC>agT p.S33S CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 33 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CCATCGTAAGGCTGCCGGTGA 0.502000 30 51 0 0 0.00209593 0 0 OR2T33 391195 broad.mit.edu 37 1 248436957 248436957 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248436957G>A ENST00000318021.2 - 1 181 c.160C>T c.(160-162)Cac>Tac p.H54Y NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGGCGTGTGGAGCCGGTGG 0.527000 13 58 0 0 0.00188189 0 0 GBE1 2632 broad.mit.edu 37 3 81586211 81586211 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:81586211G>A ENST00000429644.2 - 13 2297 c.1654C>T c.(1654-1656)Cca>Tca p.P552S GBE1_ENST00000489715.1_Missense_Mutation_p.P511S NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 552 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CCTTTTCTTGGGAAGTCTAAC 0.348000 Glycogen Storage Disease, type IV 5 10 0 0 0.00198382 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75552442 75552442 + Silent SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:75552442C>G ENST00000604729.1 + 10 2442 c.2145C>G c.(2143-2145)acC>acG p.T715T ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Silent_p.T715T|ZSWIM8_ENST00000605216.1_Silent_p.T715T|ZSWIM8_ENST00000604524.1_Silent_p.T715T|ZSWIM8_ENST00000603114.1_Silent_p.T682T zinc finger, SWIM-type containing 8 TTCCCAAAACCAAAGAGGCAG 0.602000 5 35 0 0 0.000602214 0 0 WNT10A 80326 broad.mit.edu 37 2 219754737 219754737 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:219754737C>T ENST00000258411.3 + 3 1041 c.408C>T c.(406-408)atC>atT p.I136I WNT10A_ENST00000483911.1_3'UTR NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 136 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTACGCCATCGCAGCAGCTG 0.617000 25 39 0 0 0.00106085 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072179 34072179 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:34072179C>T ENST00000254466.6 - 6 2364 c.2337G>A c.(2335-2337)agG>agA p.R779R GAS2L2_ENST00000587565.1_Silent_p.R763R NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 779 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGGCCGAATCCTGGGTCTCA 0.612000 39 89 0 0 0.00128727 0 0 COL5A3 50509 broad.mit.edu 37 19 10071165 10071165 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:10071165C>T ENST00000264828.3 - 67 5245 c.5160G>A c.(5158-5160)tgG>tgA p.W1720* NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1720 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCGCCACATCCCACAGGGGCA 0.572000 23 45 0 0 0.00332997 0 0 CORO1C 23603 broad.mit.edu 37 12 109042615 109042615 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:109042615G>A ENST00000261401.3 - 10 1243 c.1071C>T c.(1069-1071)ttC>ttT p.F357F CORO1C_ENST00000421578.2_Silent_p.F252F|CORO1C_ENST00000541050.1_Silent_p.F357F|CORO1C_ENST00000549772.1_Silent_p.F363F|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000420959.2_Silent_p.F410F NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 357 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GGTCATCTTGGAAAAGGTCAG 0.463000 19 44 0 0 0.00229938 0 0 SUGT1P3 283507 broad.mit.edu 37 13 41495637 41495637 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:41495637G>A ENST00000304932.4 - 0 186 NR_003365.2 GGTCCTGGTCGATTAGAGCAT 0.537000 OREG0022377 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 33 0 0 0.000566183 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673398 3673398 + Missense_Mutation SNP G G A rs150431597 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:3673398G>A ENST00000344754.4 - 15 3799 c.3800C>T c.(3799-3801)cCg>cTg p.P1267L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1267 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGCAGCCTCCGGAGCCAGGAT 0.657000 18 36 0 0 0.000958276 0 0 ZNF213 7760 broad.mit.edu 37 16 3188779 3188779 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:3188779C>T ENST00000396878.3 + 4 1032 c.557C>T c.(556-558)cCc>cTc p.P186L ZNF213_ENST00000574902.1_Missense_Mutation_p.P186L|ZNF213_ENST00000416391.2_Intron|ZNF213_ENST00000576416.1_Missense_Mutation_p.P186L NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 186 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 GAGGGTCGTCCCGGAGAGACG 0.552000 7 19 0 0 0.00198382 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427665 197427665 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:197427665C>T ENST00000273582.5 - 7 1445 c.900G>A c.(898-900)caG>caA p.Q300Q KIAA0226_ENST00000296343.5_Silent_p.Q360Q|KIAA0226_ENST00000449205.1_Silent_p.Q360Q|KIAA0226_ENST00000389665.5_Silent_p.Q360Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 360 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AATCTGGCTTCTGGGAGCTGC 0.602000 11 47 0 0 0.00185496 0 0 MYH1 4619 broad.mit.edu 37 17 10415854 10415854 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:10415854C>T ENST00000226207.5 - 12 1112 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 340 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCAGAATTTCAATGGCACTC 0.398000 10 35 0 0 0.000673444 0 0 MICAL3 57553 broad.mit.edu 37 22 18301313 18301313 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:18301313G>A ENST00000441493.2 - 26 4466 c.4114C>T c.(4114-4116)Ccc>Tcc p.P1372S NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1372 Pro-rich. 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) TCATCCTGGGGGGACTTTTCA 0.642000 64 126 0 0 0.00361006 0 0 IL21R 50615 broad.mit.edu 37 16 27460428 27460428 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:27460428C>T ENST00000337929.3 + 9 1914 c.1441C>T c.(1441-1443)Ccc>Tcc p.P481S IL21R_ENST00000395755.1_Missense_Mutation_p.P481S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.P481S|IL21R_ENST00000564089.1_Missense_Mutation_p.P481S NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 481 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GGCGGGCTCACCCCTGGCCGG 0.652000 T BCL6 NHL 12 24 0 0 0.00136819 0 0 MRPL1 65008 broad.mit.edu 37 4 78792967 78792967 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:78792967T>G ENST00000315567.8 + 2 430 c.101T>G c.(100-102)gTa>gGa p.V34G NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 34 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TCTTGTTCTGTAAACATCCGA 0.299000 19 45 0 0 0.00278032 0 0 NOP9 161424 broad.mit.edu 37 14 24774194 24774194 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24774194C>T ENST00000267425.3 + 10 1897 c.1804C>T c.(1804-1806)Cga>Tga p.R602* NOP9_ENST00000396802.3_3'UTR NM_174913.1 NP_777573.1 NOP9 nucleolar protein CCATGTGGCTCGAAATGTGGC 0.547000 16 27 0 0 0.00400662 0 0 ASL 435 broad.mit.edu 37 7 65553815 65553815 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:65553815C>T ENST00000304874.9 + 11 842 c.740C>T c.(739-741)tCg>tTg p.S247L AC068533.7_ENST00000450043.1_Silent_p.F15F|ASL_ENST00000380839.4_Missense_Mutation_p.S221L|ASL_ENST00000395332.3_Missense_Mutation_p.S247L|ASL_ENST00000395331.3_Missense_Mutation_p.S247L NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 247 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TTCTGGGCTTCGCTGTGCATG 0.587000 9 22 0 0 0.000673444 0 0 ATAD5 79915 broad.mit.edu 37 17 29162147 29162147 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:29162147G>A ENST00000321990.4 + 2 1426 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 350 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AAAGCAATTTGAAATGGAAAA 0.363000 7 35 0 0 0.00198382 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092719 151092719 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:151092719C>T ENST00000370335.1 + 3 850 c.583C>T c.(583-585)Cag>Tag p.Q195* MAGEA4_ENST00000393920.1_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000370340.3_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000360243.2_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000276344.2_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000370337.4_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000393921.1_Nonsense_Mutation_p.Q195* P43358 MAGA4_HUMAN melanoma antigen family A, 4 195 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) GGGTAATAATCAGATCTTTCC 0.547000 34 16 0 0 0.00283554 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086088 128086088 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:128086088C>T ENST00000470056.1 + 9 1904 c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C GAPVD1_ENST00000394083.2_Missense_Mutation_p.R561C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R582C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R561C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R582C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R582C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R582C Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 582 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TCCTTCAAATCGCTCCAATTC 0.423000 7 10 0 0 0.00198382 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480910 95480910 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:95480910C>T ENST00000432432.2 - 0 2450 NR_040113.1 TTACTTTTCTCTTCTAGTACG 0.353000 55 104 0 0 0.00361006 0 0 CELA3A 10136 broad.mit.edu 37 1 22336293 22336293 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:22336293C>T ENST00000290122.3 + 7 757 c.738C>T c.(736-738)ttC>ttT p.F246F NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTGCAACTTCATCTGGAAGC 0.612000 15 32 0 0 0.00244969 0 0 COL7A1 1294 broad.mit.edu 37 3 48614433 48614433 + Missense_Mutation SNP C C T rs146234310 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:48614433C>T ENST00000328333.8 - 65 5667 c.5560G>A c.(5560-5562)Ggg>Agg p.G1854R COL7A1_ENST00000454817.1_Missense_Mutation_p.G1854R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1854 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) ACCTTCCTCCCGTCTTCTCCA 0.547000 25 54 0 0 0.00127121 0 0 SSX2IP 117178 broad.mit.edu 37 1 85135375 85135375 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:85135375A>G ENST00000437941.2 - 3 686 c.334T>C c.(334-336)Tca>Cca p.S112P SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.S139P|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S139P|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S112P NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 139 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTAAGTTTTGAGTAGCAGCTC 0.353000 18 57 0 0 0.00152264 0 0 LRP1B 53353 broad.mit.edu 37 2 141458040 141458040 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:141458040C>A ENST00000389484.3 - 41 7549 c.6578G>T c.(6577-6579)gGa>gTa p.G2193V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2193 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) TATTGTTCTTCCTGAATACAG 0.383000 TSP Lung(27;0.18) 21 43 3.62473e-10 8.33688e-10 0.00188189 1 0 MCOLN2 255231 broad.mit.edu 37 1 85405263 85405263 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:85405263G>A ENST00000370608.3 - 9 1150 c.1083C>T c.(1081-1083)tcC>tcT p.S361S MCOLN2_ENST00000284027.5_Silent_p.S333S|MCOLN2_ENST00000531325.1_5'UTR NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 361 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TTTTTAATATGGAGCCAATGA 0.463000 15 27 0 0 0.00400662 0 0 OR11H1 81061 broad.mit.edu 37 22 16449682 16449682 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:16449682G>A ENST00000252835.4 - 1 123 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GTGAGAAGAGGAAGATCTGAA 0.428000 15 103 0 0 0.00283554 0 0 STYK1 55359 broad.mit.edu 37 12 10774548 10774548 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:10774548G>A ENST00000075503.3 - 10 1511 c.991C>T c.(991-993)Cct>Tct p.P331S NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 331 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CTGGTAGGAGGGACTTCAGGA 0.418000 HNSCC(73;0.22) 37 78 0 0 0.00170553 0 0 RGS22 26166 broad.mit.edu 37 8 101075873 101075873 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:101075873C>T ENST00000360863.6 - 8 1317 c.1123G>A c.(1123-1125)Gag>Aag p.E375K RGS22_ENST00000523437.1_Missense_Mutation_p.E363K|RGS22_ENST00000523287.1_Missense_Mutation_p.E194K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 375 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TCTGACCTCTCCTTTGTAGTT 0.353000 15 30 0 0 0.00244969 0 0 TTPAL 79183 broad.mit.edu 37 20 43108797 43108797 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:43108797G>A ENST00000372904.3 + 3 301 c.158G>A c.(157-159)tGg>tAg p.W53* TTPAL_ENST00000262605.4_Nonsense_Mutation_p.W53*|TTPAL_ENST00000372906.2_Nonsense_Mutation_p.W53* NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 53 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 AAGCCGGAATGGAGACTTCGA 0.592000 9 13 0 0 0.000442599 0 0 TENM2 57451 broad.mit.edu 37 5 167625888 167625888 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:167625888C>T ENST00000519204.1 + 15 2686 c.2568C>T c.(2566-2568)tcC>tcT p.S856S TENM2_ENST00000518659.1_Silent_p.S977S|TENM2_ENST00000520394.1_Silent_p.S745S|TENM2_ENST00000403607.2_Silent_p.S801S|TENM2_ENST00000545108.1_Silent_p.S977S teneurin transmembrane protein 2 GAGGTGCTTCCTTGACTCTAC 0.547000 23 53 0 0 0.000720815 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242404 87242404 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:87242404G>A ENST00000297524.3 - 1 206 c.103C>T c.(103-105)Ccc>Tcc p.P35S SLC7A13_ENST00000419776.2_Missense_Mutation_p.P35S|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 35 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ACACCTTTGGGGGACACAAAA 0.473000 30 42 0 0 0.00127121 0 0 LRTM2 654429 broad.mit.edu 37 12 1943665 1943665 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:1943665G>A ENST00000543818.1 + 5 1733 c.891G>A c.(889-891)caG>caA p.Q297Q LRTM2_ENST00000535041.1_Silent_p.Q297Q|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Q297Q|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 297 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CACAGAAGCAGAGGCACCGGC 0.687000 16 31 0 0 0.000566183 0 0 HEYL 26508 broad.mit.edu 37 1 40092660 40092660 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:40092660G>A ENST00000372852.3 - 5 825 c.506C>T c.(505-507)cCt>cTt p.P169L HEYL_ENST00000535435.1_Missense_Mutation_p.P141L NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 169 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) GAAGGCCAAAGGGCCAGTGGG 0.657000 14 39 0 0 0.000566183 0 0 DDX60 55601 broad.mit.edu 37 4 169227534 169227534 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:169227534C>T ENST00000393743.3 - 5 893 c.602G>A c.(601-603)tGg>tAg p.W201* NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 201 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATTACCTTCCAGGAAAAAAT 0.373000 9 13 0 0 0.000442599 0 0 NLRP2 55655 broad.mit.edu 37 19 55495043 55495043 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55495043G>A ENST00000543010.1 + 6 2120 c.1977G>A c.(1975-1977)aaG>aaA p.K659K NLRP2_ENST00000538819.1_Silent_p.K635K|NLRP2_ENST00000537859.1_Silent_p.K637K|NLRP2_ENST00000448584.2_Silent_p.K659K|NLRP2_ENST00000427260.2_Silent_p.K636K|NLRP2_ENST00000339757.7_Silent_p.K637K|NLRP2_ENST00000391721.4_Silent_p.K635K|NLRP2_ENST00000263437.6_Silent_p.K656K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 659 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGTAATAAAGGAGAATCTCC 0.473000 14 32 0 0 0.00244969 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147926752 147926752 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:147926752C>T ENST00000361727.3 + 20 3778 c.3262C>T c.(3262-3264)Cga>Tga p.R1088* CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.R147* NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1088 Laminin G-like 4. 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 p.R1088*(1) 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) CTTACAGATTCGATACAACCT 0.443000 HNSCC(39;0.1) 13 11 0 0 0.00136819 0 0 NFIC 4782 broad.mit.edu 37 19 3434308 3434308 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:3434308C>T ENST00000589123.1 + 5 836 c.716C>T c.(715-717)tCc>tTc p.S239F NFIC_ENST00000395111.3_Missense_Mutation_p.S239F|NFIC_ENST00000586919.1_Missense_Mutation_p.S215F|NFIC_ENST00000443272.2_Missense_Mutation_p.S248F|NFIC_ENST00000346156.5_Missense_Mutation_p.S215F|NFIC_ENST00000341919.3_Missense_Mutation_p.S248F|NFIC_ENST00000590282.1_Missense_Mutation_p.S248F NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 248 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCCAACTTCTCCCTGGGGGAG 0.617000 18 31 0 0 0.00074312 0 0 FPGT 8790 broad.mit.edu 37 1 74671320 74671320 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:74671320T>C ENST00000370898.2 + 4 1626 c.1589T>C c.(1588-1590)gTt>gCt p.V530A FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.4_3'UTR|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.V276A|TNNI3K_ENST00000370891.2_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 ATTTTCCCAGTTTGTTCTTCT 0.393000 24 57 0 0 0.00229938 0 0 GRM6 2916 broad.mit.edu 37 5 178417600 178417600 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:178417600G>A ENST00000231188.5 - 4 1183 c.1005C>T c.(1003-1005)tcC>tcT p.S335S GRM6_ENST00000517717.1_Silent_p.S335S NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 335 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) CACCGTCGATGGAGGCCCTTT 0.622000 7 19 0 0 0.000442599 0 0 CD5L 922 broad.mit.edu 37 1 157805633 157805633 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:157805633G>A ENST00000368174.4 - 3 464 c.368C>T c.(367-369)tCg>tTg p.S123L NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 123 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACTCTCACACGATGCCCCAGC 0.502000 76 62 0 0 0.00361006 0 0 FRMPD2 143162 broad.mit.edu 37 10 49381042 49381042 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49381042G>A ENST00000374201.3 - 25 3472 c.3170C>T c.(3169-3171)tCc>tTc p.S1057F FRMPD2_ENST00000474573.1_Missense_Mutation_p.S9F|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S1032F|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S1025F NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1057 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGTTACCAAGGAAACAGCCGT 0.498000 54 31 0 0 0.00361006 0 0 PRR15L 79170 broad.mit.edu 37 17 46030478 46030478 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:46030478C>T ENST00000300557.2 - 2 373 c.123G>A c.(121-123)agG>agA p.R41R RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 41 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 CAGCGTCAGGCCTCGGGGGTT 0.547000 90 52 0 0 0.00361006 0 0 NWD1 284434 broad.mit.edu 37 19 16908556 16908556 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:16908556G>A ENST00000524140.2 + 16 3736 c.3318G>A c.(3316-3318)tcG>tcA p.S1106S NWD1_ENST00000339803.6_Silent_p.S971S|NWD1_ENST00000552788.1_Silent_p.S1106S|NWD1_ENST00000549814.1_Silent_p.S1106S|NWD1_ENST00000379808.3_Silent_p.S1106S|NWD1_ENST00000523826.1_Silent_p.S900S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1106 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 TTGGAAGATCGGTGCGGATAT 0.522000 30 60 0 0 0.00283554 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910822 230910822 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:230910822G>A ENST00000295190.4 - 4 1478 c.1020C>T c.(1018-1020)atC>atT p.I340I NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 340 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACAAATTGACGATTTCTGGGA 0.408000 9 19 0 0 0.000673444 0 0 AMER1 139285 broad.mit.edu 37 X 63410946 63410946 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:63410946G>A ENST00000330258.3 - 2 2493 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S AMER1_ENST00000374869.3_Missense_Mutation_p.P741S|AMER1_ENST00000403336.1_Missense_Mutation_p.P741S NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GCCCTCCTGGGAGATCCTCCA 0.507000 15 3 0 0 0.00121646 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967114 58967114 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58967114A>G ENST00000391696.1 + 3 1705 c.773A>G c.(772-774)aAg>aGg p.K258R ZNF324B_ENST00000336614.4_Missense_Mutation_p.K268R|ZNF324B_ENST00000545523.1_Missense_Mutation_p.K268R Q6AW86 Z324B_HUMAN zinc finger protein 324B 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GTGTTCGTGAAGAGCTCCGAC 0.652000 8 31 0 0 0.000673444 0 0 CPNE6 9362 broad.mit.edu 37 14 24545385 24545385 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24545385G>A ENST00000397016.2 + 12 1263 c.952G>A c.(952-954)Ggg>Agg p.G318R CPNE6_ENST00000537691.1_Missense_Mutation_p.G373R|CPNE6_ENST00000216775.2_Missense_Mutation_p.G318R O95741 CPNE6_HUMAN copine VI (neuronal) 318 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CGCCTCCAATGGGGACCCGAG 0.632000 11 16 0 0 0.00136819 0 0 ZNF438 220929 broad.mit.edu 37 10 31138998 31138998 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:31138998G>A ENST00000538351.1 - 7 943 c.189C>T c.(187-189)tcC>tcT p.S63S ZNF438_ENST00000436087.2_Silent_p.S112S|ZNF438_ENST00000331737.6_Silent_p.S102S|ZNF438_ENST00000452305.1_Silent_p.S102S|ZNF438_ENST00000444692.2_Silent_p.S102S|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000361310.3_Silent_p.S112S|ZNF438_ENST00000413025.1_Silent_p.S112S|ZNF438_ENST00000442986.1_Silent_p.S112S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TTTCAGGTAGGGACATTCTGG 0.468000 23 60 0 0 0.00278032 0 0 TMEM37 140738 broad.mit.edu 37 2 120194547 120194547 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:120194547C>T ENST00000306406.4 + 2 139 c.104C>T c.(103-105)gCc>gTc p.A35V TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.A47V NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 35 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ACGTGTGTGGCCCTGGCTGTG 0.607000 24 54 0 0 0.00332997 0 0 SBF1 6305 broad.mit.edu 37 22 50906053 50906053 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:50906053G>A ENST00000380817.2 - 4 529 c.346C>T c.(346-348)Ctg>Ttg p.L116L SBF1_ENST00000348911.6_Silent_p.L117L|SBF1_ENST00000390679.3_Silent_p.L116L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 116 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GTGGGAGACAGGTGGGTCTGG 0.667000 17 28 0 0 0.000958276 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98506933 98506933 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:98506933C>T ENST00000265261.6 + 7 553 c.131C>T c.(130-132)aCc>aTc p.T44I ST3GAL6_ENST00000483910.1_Missense_Mutation_p.T162I|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.T162I NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 162 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 AGAAGGACAACCTTCCGACTT 0.373000 6 20 0 0 0.00116845 0 0 CNBD1 168975 broad.mit.edu 37 8 88249250 88249250 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:88249250C>T ENST00000518476.1 + 6 732 c.681C>T c.(679-681)ttC>ttT p.F227F CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 227 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CAGACTCGTTCATATCTCAGA 0.378000 34 62 0 0 0.00283554 0 0 MYO5B 4645 broad.mit.edu 37 18 47581679 47581679 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:47581679C>T ENST00000285039.7 - 2 396 c.97G>A c.(97-99)Gaa>Aaa p.E33K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 33 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTGTCTCCTTCTTTGTAGTCC 0.537000 26 51 0 0 0.00127121 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98506934 98506934 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:98506934C>T ENST00000265261.6 + 7 554 c.132C>T c.(130-132)acC>acT p.T44T ST3GAL6_ENST00000483910.1_Silent_p.T162T|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.T162T NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 162 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GAAGGACAACCTTCCGACTTT 0.373000 6 20 0 0 0.00116845 0 0 DPP6 1804 broad.mit.edu 37 7 154672628 154672628 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:154672628G>A ENST00000404039.1 + 21 2504 c.1917G>A c.(1915-1917)agG>agA p.R639R DPP6_ENST00000377770.3_Silent_p.R703R|DPP6_ENST00000427557.1_Silent_p.R596R|DPP6_ENST00000332007.3_Silent_p.R641R NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 703 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ACATTGACAGGACGCGCGTGG 0.572000 13 31 0 0 0.00185496 0 0 CATSPER3 347732 broad.mit.edu 37 5 134347254 134347254 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:134347254A>G ENST00000282611.6 + 8 1224 c.1138A>G c.(1138-1140)Atg>Gtg p.M380V NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 380 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTGAGCCTAATGCTGGAAGA 0.552000 7 23 0 0 0.000274275 0 0 KRCC1 51315 broad.mit.edu 37 2 88327609 88327609 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:88327609C>T ENST00000347055.3 - 4 867 c.474G>A c.(472-474)caG>caA p.Q158Q NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 158 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TTTTCCTCTTCTGATGTATCT 0.423000 33 70 0 0 0.00209593 0 0 KLHL38 340359 broad.mit.edu 37 8 124664923 124664923 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:124664923G>A ENST00000325995.7 - 1 267 c.244C>T c.(244-246)Ccc>Tcc p.P82S CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 82 BTB. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGGGTTGGGGGGTCAATGCCT 0.587000 10 31 0 0 0.000673444 0 0 OR4K5 79317 broad.mit.edu 37 14 20389385 20389385 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:20389385C>T ENST00000315915.4 + 1 645 c.620C>T c.(619-621)tCc>tTc p.S207F NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAATTCTTTCCCTAAGCACT 0.418000 48 77 0 0 0.00361006 0 0 OR13G1 441933 broad.mit.edu 37 1 247835968 247835968 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:247835968G>A ENST00000359688.2 - 1 397 c.376C>T c.(376-378)Cct>Tct p.P126S RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 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) TAATGAAGAGGGAAACAAATG 0.493000 6 22 0 0 0.00116845 0 0 CNTN4 152330 broad.mit.edu 37 3 3085301 3085301 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:3085301C>T ENST00000397461.1 + 22 3108 c.2724C>T c.(2722-2724)atC>atT p.I908I CNTN4_ENST00000418658.1_Silent_p.I908I|CNTN4_ENST00000358480.3_Silent_p.I689I|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.I908I|CNTN4_ENST00000448906.2_Silent_p.I580I|CNTN4_ENST00000397459.2_Silent_p.I580I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 908 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CCGGAAACATCATATGGAATT 0.368000 11 28 0 0 0.00136819 0 0 TACC2 10579 broad.mit.edu 37 10 123987414 123987414 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:123987414C>T ENST00000369005.1 + 14 8127 c.7787C>T c.(7786-7788)cCa>cTa p.P2596L TACC2_ENST00000515603.1_Missense_Mutation_p.P2551L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2600L|TACC2_ENST00000360561.3_Missense_Mutation_p.P674L|TACC2_ENST00000369004.3_Missense_Mutation_p.P686L|TACC2_ENST00000369001.1_Missense_Mutation_p.P300L|TACC2_ENST00000260733.3_Missense_Mutation_p.P674L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2600L|TACC2_ENST00000513429.1_Missense_Mutation_p.P742L|TACC2_ENST00000369000.1_Missense_Mutation_p.P296L|TACC2_ENST00000358010.1_Missense_Mutation_p.P742L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2596L|TACC2_ENST00000368999.1_Missense_Mutation_p.P686L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2596 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) CATCCTGTCCCACGAGGACTG 0.542000 24 67 0 0 0.00278032 0 0 ZNF433 163059 broad.mit.edu 37 19 12126357 12126357 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:12126357C>T ENST00000419886.2 - 5 1511 c.1220G>A c.(1219-1221)aGg>aAg p.R407K CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R442K Q8N7K0 ZN433_HUMAN zinc finger protein 433 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 CGTGTGAGTCCTACCATGTGT 0.418000 26 45 0 0 0.00178596 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560655 67560655 + RNA SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67560655A>G ENST00000528089.1 - 0 1095 TTGGAGTCGTATGTGAGTCCT 0.453000 4 74 0 0 0.00116845 0 0 GAS2 2620 broad.mit.edu 37 11 22833377 22833377 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:22833377G>A ENST00000454584.2 + 8 1062 c.757G>A c.(757-759)Gga>Aga p.G253R GAS2_ENST00000433790.1_Missense_Mutation_p.G253R|GAS2_ENST00000278187.3_Missense_Mutation_p.G253R NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 253 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GGTCCGTGTGGGAGGAGGCTG 0.453000 28 62 0 0 0.0024448 0 0 THBS2 7058 broad.mit.edu 37 6 169637409 169637409 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:169637409G>A ENST00000366787.3 - 10 1582 c.1333C>T c.(1333-1335)Cct>Tct p.P445S XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 445 TSP type-1 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GAAGACCAAGGTGACCAGTGG 0.582000 6 25 0 0 0.00198382 0 0 TSPYL2 64061 broad.mit.edu 37 X 53117121 53117121 + Nonstop_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:53117121A>T ENST00000375442.4 + 7 2214 c.2082A>T c.(2080-2082)taA>taT p.*694Y NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 0 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 AAACCGGATAAGGGTTTTCCC 0.572000 OREG0019795 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 7 0 0 0.00229938 0 0 RAD9A 5883 broad.mit.edu 37 11 67161031 67161031 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67161031C>T ENST00000307980.2 + 4 392 c.299C>T c.(298-300)tCc>tTc p.S100F NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 100 S -> A (in dbSNP:rs2066492). DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TGCTGCATCTCCCTGAATGGC 0.602000 Other conserved DNA damage response genes 10 25 0 0 0.00185496 0 0 OR5L1 219437 broad.mit.edu 37 11 55579742 55579742 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55579742G>A ENST00000333973.2 + 1 889 c.800G>A c.(799-801)aGt>aAt p.S267N NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S267I(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCAGGCAATAGTGGAGATGCT 0.478000 21 40 0 0 0.00152264 0 0 NPC1 4864 broad.mit.edu 37 18 21119887 21119887 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:21119887C>T ENST00000269228.5 - 18 3237 c.2683G>A c.(2683-2685)Gaa>Aaa p.E895K NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E577K NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 895 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 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) TCGTGCCCTTCCTCCAGGACA 0.502000 31 54 0 0 0.000953801 0 0 AGBL4 84871 broad.mit.edu 37 1 49100233 49100233 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:49100233G>A ENST00000371839.1 - 9 999 c.883C>T c.(883-885)Ccc>Tcc p.P295S AGBL4_ENST00000334103.7_Missense_Mutation_p.P28S|AGBL4_ENST00000371838.1_Missense_Mutation_p.P295S NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 295 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) CATGGAGAGGGATCCAGCCAG 0.488000 5 8 0 0 0.00116845 0 0 SPTB 6710 broad.mit.edu 37 14 65234495 65234495 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:65234495C>T ENST00000389722.3 - 29 6158 c.6105G>A c.(6103-6105)ggG>ggA p.G2035G SPTB_ENST00000556626.1_Silent_p.G2035G|SPTB_ENST00000542895.1_Silent_p.G2035G|SPTB_ENST00000389720.3_Silent_p.G2035G|SPTB_ENST00000389721.5_Silent_p.G2035G NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2035 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) GTCCAAAGTCCCCGCTGGCCA 0.617000 18 37 0 0 0.00121646 0 0 HRH2 3274 broad.mit.edu 37 5 175111210 175111210 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:175111210C>T ENST00000231683.2 + 1 2747 c.974C>T c.(973-975)tCc>tTc p.S325F HRH2_ENST00000377291.2_Missense_Mutation_p.S325F NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 325 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) 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) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TCTCAGCTGTCCAGGACCCAA 0.597000 14 43 0 0 0.00185496 0 0 SCN11A 11280 broad.mit.edu 37 3 38892129 38892129 + Silent SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38892129T>C ENST00000450244.1 - 25 4368 c.4170A>G c.(4168-4170)caA>caG p.Q1390Q SCN11A_ENST00000456224.3_Silent_p.Q1352Q|SCN11A_ENST00000444237.2_Silent_p.Q1390Q|SCN11A_ENST00000302328.3_Silent_p.Q1390Q Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1390 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGGCTTTGGGTTGGTTGTATG 0.398000 21 61 0 0 0.00278032 0 0 CYP4F3 4051 broad.mit.edu 37 19 15759998 15759998 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:15759998G>A ENST00000221307.7 + 6 602 c.554G>A c.(553-555)gGt>gAt p.G185D CYP4F3_ENST00000591058.1_Missense_Mutation_p.G185D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G185D|CYP4F3_ENST00000586182.1_Missense_Mutation_p.G185D NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 185 EGS -> KGY (in Ref. 3; AAC08589). leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCCTCAGAGGGTAGTGCCCGT 0.557000 17 45 0 0 0.00074312 0 0 TNR 7143 broad.mit.edu 37 1 175332856 175332856 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:175332856G>A ENST00000367674.1 - 13 3403 c.2695C>T c.(2695-2697)Cga>Tga p.R899* TNR_ENST00000263525.2_Nonsense_Mutation_p.R899* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 899 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R899*(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGGGTGGGTCGATATGATACT 0.448000 44 58 0 0 0.00321405 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:150174830G>A ENST00000307271.3 + 5 2534 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 654 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) GTCCCAAGCCGAAAAACTCCT 0.463000 21 29 0 0 0.00188189 0 0 SALL1 6299 broad.mit.edu 37 16 51174276 51174276 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:51174276G>A ENST00000440970.1 - 2 1997 c.1566C>T c.(1564-1566)ccC>ccT p.P522P SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P619P|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 619 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGCCACCAGAGGGTGGCAGAG 0.652000 18 29 0 0 0.00121646 0 0 PCDH18 54510 broad.mit.edu 37 4 138452990 138452990 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:138452990C>T ENST00000344876.4 - 1 639 c.253G>A c.(253-255)Gaa>Aaa p.E85K PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E85K|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 85 Cadherin 1. 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) ATGCTGATTTCCCCATTATCC 0.433000 34 92 0 0 0.000953801 0 0 CCDC54 84692 broad.mit.edu 37 3 107096770 107096770 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:107096770G>A ENST00000261058.1 + 1 583 c.336G>A c.(334-336)atG>atA p.M112I NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 112 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AAACCAGAATGAATGTTAATG 0.373000 10 20 0 0 0.000442599 0 0 SLC9A9 285195 broad.mit.edu 37 3 143371183 143371183 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:143371183G>A ENST00000316549.6 - 6 877 c.669C>T c.(667-669)ttC>ttT p.F223F NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 223 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GCAGTTCATGGAAAATGGCCA 0.473000 5 8 0 0 0.00116845 0 0 TNNI3 7137 broad.mit.edu 37 19 55663277 55663277 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55663277C>T ENST00000344887.5 - 8 700 c.558G>A c.(556-558)cgG>cgA p.R186R TNNI3_ENST00000588882.1_Silent_p.R161R NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 186 R -> Q (in CMH7). cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTCCCACCTCCCGGTTTTCCT 0.572000 24 38 0 0 0.0024448 0 0 SGSM1 129049 broad.mit.edu 37 22 25264699 25264699 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:25264699T>C ENST00000400358.4 + 12 1225 c.1168T>C c.(1168-1170)Ttt>Ctt p.F390L SGSM1_ENST00000400359.4_Missense_Mutation_p.F390L NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 390 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GGGCAAAGTGTTTCCTAAACT 0.498000 32 65 0 0 0.00283554 0 0 ELFN2 114794 broad.mit.edu 37 22 37771193 37771193 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:37771193G>A ENST00000402918.1 - 3 1167 c.382C>T c.(382-384)Cgc>Tgc p.R128C ELFN2_ENST00000349653.3_Missense_Mutation_p.R128C|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 128 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AACTGCAGGCGGCTCATGCCT 0.632000 23 55 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179516832 179516832 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179516832G>A ENST00000589042.1 - 204 39510 c.39286C>T c.(39286-39288)Ccc>Tcc p.P13096S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10662S|TTN_ENST00000591111.1_Missense_Mutation_p.P11589S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11449 R -> L. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P10662A(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) CCTTCAGGGGGAGGACTTTCC 0.343000 32 43 0 0 0.00111076 0 0 CRADD 8738 broad.mit.edu 37 12 94243947 94243947 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:94243947G>A ENST00000542893.2 + 3 818 c.500G>A c.(499-501)tGg>tAg p.W167* CRADD_ENST00000332896.3_Nonsense_Mutation_p.W167*|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 167 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 TTCATCCGTTGGCGGCAGCGC 0.632000 20 44 0 0 0.00152264 0 0 PEG3 5178 broad.mit.edu 37 19 57326417 57326417 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:57326417C>T ENST00000326441.9 - 10 3756 c.3393G>A c.(3391-3393)agG>agA p.R1131R ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.R1007R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R1005R|PEG3_ENST00000423103.2_Silent_p.R1131R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1131 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCAGGCACTTCCTGCTGTGGA 0.478000 39 78 0 0 0.00170553 0 0 TFCP2 7024 broad.mit.edu 37 12 51492581 51492581 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:51492581A>T ENST00000307660.4 - 12 1964 c.1244T>A c.(1243-1245)aTt>aAt p.I415N TFCP2_ENST00000549867.1_Missense_Mutation_p.I388N|TFCP2_ENST00000548115.1_Missense_Mutation_p.I415N|TFCP2_ENST00000257915.5_Missense_Mutation_p.I466N NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 466 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GAGCACATGAATTCCTGTTGG 0.433000 10 33 0 0 0.00185496 0 0 CMYA5 202333 broad.mit.edu 37 5 79089359 79089359 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:79089359C>T ENST00000446378.2 + 12 11920 c.11889C>T c.(11887-11889)tcC>tcT p.S3963S CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3963 B30.2/SPRY. 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) GCATCTGCTCCAGCTCGGCTG 0.602000 22 40 0 0 0.00278032 0 0 DPPA2 151871 broad.mit.edu 37 3 109019260 109019260 + Missense_Mutation SNP A A T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:109019260A>T ENST00000478945.1 - 8 1123 c.877T>A c.(877-879)Tta>Ata p.L293I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 293 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTGTCATTAATCTTTTCATC 0.338000 35 61 0 0 0.00111076 0 0 FANK1 92565 broad.mit.edu 37 10 127677178 127677178 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:127677178C>T ENST00000368695.1 + 3 354 c.232C>T c.(232-234)Cgc>Tgc p.R78C FANK1_ENST00000449042.2_Missense_Mutation_p.R78C|FANK1_ENST00000368689.1_Missense_Mutation_p.R78C|FANK1_ENST00000368693.1_Missense_Mutation_p.R84C NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 84 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGATTTCGCCTGAAGGT 0.522000 55 109 0 0 0.00361006 0 0 DRGX 644168 broad.mit.edu 37 10 50598203 50598203 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:50598203T>C ENST00000374139.2 - 3 220 c.210A>G c.(208-210)atA>atG p.I70M DRGX_ENST00000434016.1_Missense_Mutation_p.I75M C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 75 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CTGTGAGGTTTATTTTCATGG 0.388000 5 20 0 0 0.00116845 0 0 KIF4B 285643 broad.mit.edu 37 5 154394524 154394524 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:154394524C>T ENST00000435029.4 + 1 1265 c.1105C>T c.(1105-1107)Cat>Tat p.H369Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 369 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCTACAAGCCCATGGAGGTAC 0.408000 31 51 0 0 0.00428921 0 0 NID2 22795 broad.mit.edu 37 14 52508839 52508839 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:52508839G>A ENST00000216286.5 - 7 1808 c.1809C>T c.(1807-1809)aaC>aaT p.N603N NID2_ENST00000541773.1_Silent_p.N550N NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 603 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGCTGAAGCCGTTCTCAGAGC 0.587000 37 69 0 0 0.00128727 0 0 FAM115A 9747 broad.mit.edu 37 7 143573471 143573471 + Silent SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143573471G>T ENST00000479870.1 - 2 439 c.231C>A c.(229-231)ctC>ctA p.L77L FAM115A_ENST00000355951.2_Silent_p.L77L|FAM115A_ENST00000392900.3_Intron NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 77 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) CTGCGTTCAGGAGAAAGGGCG 0.622000 12 17 1.61879e-10 3.72794e-10 0.00136819 1 0 CYP2C8 1558 broad.mit.edu 37 10 96824703 96824703 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:96824703G>A ENST00000371270.3 - 4 590 c.496C>T c.(496-498)Ccc>Tcc p.P166S CYP2C8_ENST00000535898.1_Missense_Mutation_p.P64S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P80S NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 166 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) ATGAAAGTGGGATCACAGGGT 0.308000 20 54 0 0 0.00188189 0 0 OR4A47 403253 broad.mit.edu 37 11 48510946 48510946 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:48510946G>A ENST00000446524.1 + 1 678 c.602G>A c.(601-603)gGa>gAa p.G201E NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G201E(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTGGCCAATGGAGGACTGGCT 0.448000 22 59 0 0 0.00278032 0 0 ZNF587 84914 broad.mit.edu 37 19 58371159 58371159 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58371159G>A ENST00000339656.5 + 3 1561 c.1379G>A c.(1378-1380)gGa>gAa p.G460E ZNF587_ENST00000423137.1_Missense_Mutation_p.G459E|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.G417E|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTTCACACTGGAGAAAGGCCA 0.428000 23 74 0 0 0.00332997 0 0 ZNF462 58499 broad.mit.edu 37 9 109690165 109690165 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:109690165C>T ENST00000277225.5 + 3 4261 c.3972C>T c.(3970-3972)ccC>ccT p.P1324P ZNF462_ENST00000441147.2_Silent_p.P169P|ZNF462_ENST00000457913.1_Silent_p.P1324P Q96JM2 ZN462_HUMAN zinc finger protein 462 1324 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATACGGAGCCCAACGGTTTGC 0.527000 30 23 0 0 0.00127121 0 0 DGUOK 1716 broad.mit.edu 37 2 74177814 74177814 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:74177814C>G ENST00000264093.4 + 4 631 c.546C>G c.(544-546)agC>agG p.S182R DGUOK_ENST00000356837.6_Missense_Mutation_p.S160R|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_3'UTR NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 182 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 AGTTTGCCAGCCGGATCACAT 0.443000 61 143 0 0 0.00361006 0 0 DST 667 broad.mit.edu 37 6 56473809 56473809 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:56473809G>A ENST00000370754.5 - 39 5517 c.5518C>T c.(5518-5520)Ctt>Ttt p.L1840F DST_ENST00000446842.2_Missense_Mutation_p.L1336F|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L1662F|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L1662F|DST_ENST00000361203.3_Missense_Mutation_p.L1662F Q03001 DYST_HUMAN dystonin 1662 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGTATCTCAAGAACTTTGATG 0.443000 72 158 0 0 0.00361006 0 0 SPATS1 221409 broad.mit.edu 37 6 44344094 44344094 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:44344094G>A ENST00000288390.2 + 7 1105 c.e7-1 SPATS1_ENST00000323108.8_Splice_Site Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTTCCCACAGCTTGCCTTTC 0.443000 6 9 0 0 0.00198382 0 0 MSR1 4481 broad.mit.edu 37 8 15998534 15998534 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:15998534G>A ENST00000381998.4 - 9 1119 c.1054C>T c.(1054-1056)Cat>Tat p.H352Y MSR1_ENST00000262101.5_Intron|MSR1_ENST00000445506.2_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000536385.1_Missense_Mutation_p.H126Y|MSR1_ENST00000350896.3_Intron NM_002445.3 NP_002436.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 0 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCCCTAATATGATCAGTGAGT 0.403000 32 61 0 0 0.00428921 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18021672 18021672 + Silent SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:18021672C>A ENST00000361221.3 + 28 3363 c.3204C>A c.(3202-3204)gtC>gtA p.V1068V ARHGEF10L_ENST00000375415.1_Silent_p.V1029V|ARHGEF10L_ENST00000167825.4_Silent_p.V771V|ARHGEF10L_ENST00000375408.3_Silent_p.V841V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.V1029V NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1068 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACTTGTGTGTCACCAGCCTCC 0.632000 24 41 9.86323e-18 2.2859e-17 0.00395357 1 0 SUSD2 56241 broad.mit.edu 37 22 24579487 24579487 + Silent SNP C C T rs143350390 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:24579487C>T ENST00000358321.3 + 3 573 c.312C>T c.(310-312)ctC>ctT p.L104L NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 104 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TCCAGACCCTCGGCCATGTGG 0.627000 20 58 0 0 0.00278032 0 0 ANK3 288 broad.mit.edu 37 10 61831321 61831321 + Missense_Mutation SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61831321T>A ENST00000280772.1 - 37 9509 c.9318A>T c.(9316-9318)gaA>gaT p.E3106D ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3106 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 GTATCTCCTTTTCATATTGCT 0.403000 50 77 0 0 0.00361006 0 0 APLNR 187 broad.mit.edu 37 11 57004463 57004463 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:57004463C>T ENST00000606794.1 - 1 212 c.16G>A c.(16-18)Gat>Aat p.D6N NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 6 integral to plasma membrane G-protein coupled receptor activity p.D6N(1) 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 TTGTCAAAATCACCACCTTCC 0.562000 17 32 0 0 0.000958276 0 0 CCNH 902 broad.mit.edu 37 5 86703870 86703870 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:86703870G>A ENST00000508855.1 - 3 278 c.226C>T c.(226-228)Ctt>Ttt p.L76F CCNH_ENST00000513499.1_Intron|CCNH_ENST00000256897.4_Missense_Mutation_p.L150F|CCNH_ENST00000504878.1_Missense_Mutation_p.L76F P51946 CCNH_HUMAN cyclin H 150 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) TGCTGTATAAGAAGTAGTTCA 0.393000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 19 59 0 0 0.00121646 0 0 PKHD1 5314 broad.mit.edu 37 6 51918863 51918863 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:51918863C>T ENST00000371117.3 - 20 2212 c.1937G>A c.(1936-1938)tGg>tAg p.W646* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W646* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 646 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) CGTGAGACTCCAGTCACAGGT 0.502000 11 27 0 0 0.000673444 0 0 KLF11 8462 broad.mit.edu 37 2 10192597 10192597 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:10192597C>A ENST00000535335.1 + 4 1667 c.1451C>A c.(1450-1452)cCg>cAg p.P484Q KLF11_ENST00000540845.1_Missense_Mutation_p.P484Q|KLF11_ENST00000305883.1_Missense_Mutation_p.P501Q NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 501 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GCAGAGAGCCCGGGGAGCCCA 0.557000 6 209 0.00307968 0.00697728 0.00307968 1 0 GPR158 57512 broad.mit.edu 37 10 25886961 25886961 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:25886961C>T ENST00000376351.3 + 11 2765 c.2406C>T c.(2404-2406)tcC>tcT p.S802S GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 802 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGGGAAATCCAAGGAGGAGA 0.542000 15 36 0 0 0.00316338 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475055 140475055 + Silent SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140475055G>T ENST00000194155.4 + 1 829 c.681G>T c.(679-681)acG>acT p.T227T NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 227 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCCGGCACGGCCCTGGTAC 0.587000 8 18 1.12685e-05 2.56899e-05 0.000274275 1 0 LRRC4B 94030 broad.mit.edu 37 19 51022166 51022166 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:51022166G>A ENST00000599957.1 - 3 1001 c.804C>T c.(802-804)atC>atT p.I268I LRRC4B_ENST00000389201.3_Silent_p.I268I Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 268 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CGTTGCGCTCGATGGTGGCTA 0.652000 8 37 0 0 0.000274275 0 0 NLK 51701 broad.mit.edu 37 17 26370206 26370206 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:26370206C>T ENST00000407008.3 + 1 1025 c.307C>T c.(307-309)Cct>Tct p.P103S NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Missense_Mutation_p.P103S NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 103 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGGGCAGGCTCCTGGACCAGC 0.627000 17 23 0 0 0.00074312 0 0 LRRC16B 90668 broad.mit.edu 37 14 24523608 24523608 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24523608C>T ENST00000342740.5 + 5 404 c.250C>T c.(250-252)Ctg>Ttg p.L84L LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 84 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CCCCCAGATCCTGGTGGAGAC 0.617000 25 44 0 0 0.000878237 0 0 NUAK2 81788 broad.mit.edu 37 1 205272618 205272618 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:205272618G>A ENST00000367157.3 - 7 1973 c.1847C>T c.(1846-1848)aCc>aTc p.T616I NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 616 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CTGTCGGTAGGTCGCTGTCAC 0.642000 25 27 0 0 0.00332997 0 0 PHRF1 57661 broad.mit.edu 37 11 591394 591394 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:591394C>T ENST00000264555.5 + 5 559 c.431C>T c.(430-432)tCc>tTc p.S144F PHRF1_ENST00000416188.2_Missense_Mutation_p.S144F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S143F|PHRF1_ENST00000533464.1_Missense_Mutation_p.S140F NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 144 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 AATGCCAATTCCTGTCCAGTT 0.383000 4 9 0 0 0.000602214 0 0 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:137814764C>T ENST00000409968.1 + 3 1092 c.914C>T c.(913-915)tCg>tTg p.S305L THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L 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) CGGCAGGTTTCGTGTACAAGA 0.363000 10 19 0 0 0.000673444 0 0 PIK3CB 5291 broad.mit.edu 37 3 138402620 138402620 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:138402620C>T ENST00000477593.1 - 17 2398 c.2325G>A c.(2323-2325)aaG>aaA p.K775K PIK3CB_ENST00000544716.1_Silent_p.K221K|PIK3CB_ENST00000289153.2_Silent_p.K775K P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 775 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGTATTTGCACTTTTCAACAC 0.348000 141 356 0 0 0.00361006 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218228 130218228 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:130218228G>A ENST00000276211.5 + 5 940 c.595G>A c.(595-597)Gga>Aga p.G199R ARHGAP36_ENST00000370922.1_Missense_Mutation_p.G187R|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.G63R NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCTGGAAGACGGAGCCCTGCT 0.468000 13 6 0 0 0.00316338 0 0 ANO4 121601 broad.mit.edu 37 12 101493382 101493382 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:101493382G>A ENST00000392979.3 + 21 2289 c.1928G>A c.(1927-1929)aGa>aAa p.R643K ANO4_ENST00000392977.3_Missense_Mutation_p.R678K|ANO4_ENST00000299222.9_Missense_Mutation_p.R198K|ANO4_ENST00000550015.1_Missense_Mutation_p.R198K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 678 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 TGGACTAGAAGAAAAGTACGA 0.363000 HNSCC(74;0.22) 22 42 0 0 0.00188189 0 0 AQP9 366 broad.mit.edu 37 15 58476165 58476165 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:58476165G>A ENST00000219919.4 + 6 1089 c.719G>A c.(718-720)gGa>gAa p.G240E AQP9_ENST00000558772.1_Missense_Mutation_p.G175E|AQP9_ENST00000536493.1_Missense_Mutation_p.G240E|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 240 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TTCAGAGCTGGAAACAACTTC 0.433000 34 92 0 0 0.00327116 0 0 OR4N4 283694 broad.mit.edu 37 15 22382691 22382691 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22382691C>T ENST00000328795.4 + 1 310 c.219C>T c.(217-219)taC>taT p.Y73Y RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 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) ATGCATCCTACTCCTTCATTG 0.478000 31 137 0 0 0.00195071 0 0 LGR6 59352 broad.mit.edu 37 1 202245493 202245493 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:202245493C>T ENST00000367278.3 + 5 577 c.488C>T c.(487-489)tCc>tTc p.S163F LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.S111F|LGR6_ENST00000308543.3_3'UTR NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 163 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 GGGCTGTCCTCCCTCCGCCAC 0.632000 14 39 0 0 0.00244969 0 0 ANXA5 308 broad.mit.edu 37 4 122589631 122589631 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:122589631C>A ENST00000296511.5 - 13 1240 c.955G>T c.(955-957)Gat>Tat p.D319Y ANXA5_ENST00000501272.2_Missense_Mutation_p.D259Y|ANXA5_ENST00000515017.1_Missense_Mutation_p.D219Y NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 319 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CGTTAGTCATCTTCTCCACAG 0.493000 22 38 1.55469e-16 3.59857e-16 0.00332997 1 0 MYOCD 93649 broad.mit.edu 37 17 12639554 12639554 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:12639554G>A ENST00000425538.1 + 6 692 c.492G>A c.(490-492)ccG>ccA p.P164P MYOCD_ENST00000395988.1_Silent_p.P68P|MYOCD_ENST00000343344.4_Silent_p.P164P NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 164 HDAC5-binding (By similarity). 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 p.P164P(2) 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) GGCTTTCTCCGGATCAGACTC 0.547000 50 103 0 0 0.00361006 0 0 ELN 2006 broad.mit.edu 37 7 73471739 73471739 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:73471739G>A ENST00000358929.4 + 22 1476 c.1385G>A c.(1384-1386)gGg>gAg p.G462E ELN_ENST00000380576.5_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000445912.1_Intron P15502 ELN_HUMAN elastin 462 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GTGCTGGGTGGGCTAGTGCCA 0.637000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 7 11 0 0 0.00198382 0 0 MUC16 94025 broad.mit.edu 37 19 9014698 9014698 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9014698C>T ENST00000397910.4 - 31 38480 c.38277G>A c.(38275-38277)gaG>gaA p.E12759E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12761 SEA 5. Missing (in Ref. 3; AAK74120). 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 CTCCATCCTTCTCGGACCTGA 0.532000 11 25 0 0 0.00400662 0 0 RBP3 5949 broad.mit.edu 37 10 48382189 48382189 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:48382189A>G ENST00000224600.4 - 4 3573 c.3460T>C c.(3460-3462)Ttc>Ctc p.F1154L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1154 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) ATATAGGTGAACTCCTCCGCG 0.597000 15 34 0 0 0.00316338 0 0 LILRB1 10859 broad.mit.edu 37 19 55145105 55145105 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55145105C>T ENST00000396331.1 + 9 1635 c.1278C>T c.(1276-1278)ccC>ccT p.P426P LILRB1_ENST00000434867.2_Silent_p.P426P|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Silent_p.P426P|LILRB1_ENST00000396315.1_Silent_p.P426P|LILRB1_ENST00000396332.4_Silent_p.P426P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P462P|LILRB1_ENST00000448689.1_Silent_p.P426P|LILRB1_ENST00000396321.2_Silent_p.P426P|LILRB1_ENST00000324602.7_Silent_p.P426P|LILRB1_ENST00000418536.2_Intron NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 426 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) CTGGGGGCCCCAGCTCCCCGA 0.607000 HNSCC(37;0.09) 6 14 0 0 0.00307968 0 0 OR52R1 119695 broad.mit.edu 37 11 4825355 4825355 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:4825355C>G ENST00000380382.1 - 1 492 c.493G>C c.(493-495)Gcc>Ccc p.A165P MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A86P|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 86 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) CAGAATATGGCCAACATCTTA 0.512000 18 26 0 0 0.000566183 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067563 11067563 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:11067563G>A ENST00000287766.4 + 9 1374 c.e9+1 SLC6A1_ENST00000536032.1_Splice_Site NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATGTCTACAGGTTTGAGAGGA 0.577000 19 49 0 0 0.00121646 0 0 TRIP12 9320 broad.mit.edu 37 2 230675852 230675852 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:230675852C>T ENST00000283943.5 - 13 2089 c.1911_splice c.e13+1 p.E637_splice TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Splice_Site_p.E340_splice|TRIP12_ENST00000389044.4_Splice_Site_p.E685_splice NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 637 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAACACTTACCTCCTCATGCT 0.318000 10 27 0 0 0.000673444 0 0 PTGS2 5743 broad.mit.edu 37 1 186644398 186644398 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:186644398G>A ENST00000367468.5 - 9 1524 c.1388C>T c.(1387-1389)tCa>tTa p.S463L PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 463 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TTCTTCAAATGATTCATAGGG 0.373000 23 49 0 0 0.00278032 0 0 CRADD 8738 broad.mit.edu 37 12 94243948 94243948 + Nonsense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:94243948G>A ENST00000542893.2 + 3 819 c.501G>A c.(499-501)tgG>tgA p.W167* CRADD_ENST00000332896.3_Nonsense_Mutation_p.W167*|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 167 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 TCATCCGTTGGCGGCAGCGCT 0.632000 20 44 0 0 0.00152264 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917322 112917322 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:112917322C>T ENST00000161863.4 + 25 3776 c.3563C>T c.(3562-3564)cCt>cTt p.P1188L NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1188 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAAGAGCTTCCTTTGGCCTCA 0.403000 8 15 0 0 0.000274275 0 0 ZNF578 147660 broad.mit.edu 37 19 53014536 53014536 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53014536C>T ENST00000421239.2 + 6 1146 c.902C>T c.(901-903)tCc>tTc p.S301F CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TACAAGTCATCCCTGACATGC 0.418000 20 60 0 0 0.000958276 0 0 MARCO 8685 broad.mit.edu 37 2 119732103 119732103 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:119732103C>T ENST00000541757.1 + 7 721 c.341C>T c.(340-342)tCg>tTg p.S114L MARCO_ENST00000327097.4_Missense_Mutation_p.S192L Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 192 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.S192W(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 CCAGGCCCCTCGGGACCCCAA 0.537000 11 29 0 0 0.000566183 0 0 RORC 6097 broad.mit.edu 37 1 151787564 151787564 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:151787564C>T ENST00000356728.6 - 4 727 c.573G>A c.(571-573)gaG>gaA p.E191E RORC_ENST00000392697.3_Silent_p.E266E|RORC_ENST00000318247.6_Silent_p.E212E NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 212 Hinge (Potential). 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 autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTCTCTGCCCTCAGCCTTGC 0.592000 9 24 0 0 0.000673444 0 0 COL11A1 1301 broad.mit.edu 37 1 103453251 103453251 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:103453251C>T ENST00000358392.2 - 30 2793 c.2476G>A c.(2476-2478)Gga>Aga p.G826R COL11A1_ENST00000353414.4_Missense_Mutation_p.G775R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G814R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G698R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 814 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTTTGGGTCCTTCAGGGCCA 0.468000 21 57 0 0 0.00188189 0 0 DPRX 503834 broad.mit.edu 37 19 54137815 54137815 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:54137815G>A ENST00000376650.1 + 2 110 c.59G>A c.(58-60)cGa>cAa p.R20Q NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 20 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CACAGGAAACGAACCATGTTC 0.433000 25 44 0 0 0.00395357 0 0 MTMR11 10903 broad.mit.edu 37 1 149902774 149902774 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:149902774G>A ENST00000361405.6 - 8 1017 c.767C>T c.(766-768)tCc>tTc p.S256F MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.F386F|MTMR11_ENST00000439741.2_Silent_p.F458F A4FU01 MTMRB_HUMAN myotubularin related protein 11 0 Myotubularin phosphatase. phosphatase activity p.F386F(1)|p.F458F(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GAGCAAGAAGGAAAAACTCAG 0.493000 16 34 0 0 0.00400662 0 0 LRP1B 53353 broad.mit.edu 37 2 141473590 141473590 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:141473590G>A ENST00000389484.3 - 37 6946 c.5975C>T c.(5974-5976)tCc>tTc p.S1992F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1992 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) CAGGCCTTGGGAAATAATTAC 0.353000 TSP Lung(27;0.18) 17 46 0 0 0.00400662 0 0 GAB4 128954 broad.mit.edu 37 22 17443709 17443709 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:17443709C>T ENST00000400588.1 - 10 1746 c.1639G>A c.(1639-1641)Gag>Aag p.E547K NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 547 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) TGGGTCTTCTCCAGATCCACC 0.602000 11 24 0 0 0.000673444 0 0 REPIN1 29803 broad.mit.edu 37 7 150069663 150069663 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:150069663C>T ENST00000397281.2 + 4 1822 c.1333C>T c.(1333-1335)Cat>Tat p.H445Y REPIN1_ENST00000540729.1_Missense_Mutation_p.H445Y|REPIN1_ENST00000425389.2_Missense_Mutation_p.H445Y|REPIN1_ENST00000444957.1_Missense_Mutation_p.H445Y|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.H502Y NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 445 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CCAGGGCAGCCATCTGGCGGC 0.726000 6 5 0 0 0.00307968 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324516 61324516 + Missense_Mutation SNP A A C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:61324516A>C ENST00000283752.5 - 6 743 c.600T>G c.(598-600)ttT>ttG p.F200L SERPINB3_ENST00000332821.8_Missense_Mutation_p.F200L|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 200 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGTTTGGCCAAAATTTTTCCT 0.279000 6 30 0 0 0.00116845 0 0 CMIP 80790 broad.mit.edu 37 16 81735267 81735267 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:81735267C>T ENST00000537098.3 + 16 1830 c.1758C>T c.(1756-1758)atC>atT p.I586I CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.I433I|CMIP_ENST00000539778.2_Silent_p.I492I NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 552 cytoplasm|nucleus p.I586I(1)|p.I491I(1) endometrium(5)|kidney(1)|lung(7) 13 CTGGACAGATCCTGTGCTTGA 0.557000 59 98 0 0 0.00361006 0 0 ZNF394 84124 broad.mit.edu 37 7 99091875 99091875 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:99091875G>A ENST00000337673.6 - 3 1166 c.963C>T c.(961-963)ttC>ttT p.F321F ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 321 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCACCATGTGGAAACTTTGCT 0.517000 30 37 0 0 0.0024448 0 0 TPTE 7179 broad.mit.edu 37 21 10951345 10951345 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:10951345G>A ENST00000298232.7 - 9 680 c.313C>T c.(313-315)Cct>Tct p.P105S TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P85S|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 123 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) TACTCCAAAGGAATATAAAGT 0.323000 17 114 0 0 0.00121646 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19713794 19713794 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:19713794C>T ENST00000284885.3 - 13 1533 c.1500G>A c.(1498-1500)ggG>ggA p.G500G NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 500 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.G500G(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CATTGCAAATCCCATATGTTA 0.378000 23 38 0 0 0.00229938 0 0 SLC7A6 9057 broad.mit.edu 37 16 68328619 68328619 + Missense_Mutation SNP T T A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:68328619T>A ENST00000566454.1 + 9 1303 c.1034T>A c.(1033-1035)gTg>gAg p.V345E SLC7A6_ENST00000219343.6_Missense_Mutation_p.V345E NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 345 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) TTGTTCTTCGTGGGCTCCCGG 0.498000 58 111 0 0 0.00361006 0 0 TTN 7273 broad.mit.edu 37 2 179542444 179542444 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179542444G>A ENST00000589042.1 - 146 34419 c.34195C>T c.(34195-34197)Cct>Tct p.P11399S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10155S|TTN_ENST00000591111.1_Missense_Mutation_p.P11082S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11082 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) TCTTCGGGAGGAACTTCCTCT 0.448000 28 55 0 0 0.00127121 0 0 KCNA6 3742 broad.mit.edu 37 12 4920426 4920426 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:4920426C>T ENST00000433855.1 + 1 2085 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S KCNA6_ENST00000280684.3_Missense_Mutation_p.P407S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 407 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TTCGCTTTTTCCCAGCATCCC 0.572000 HNSCC(72;0.22) 20 61 0 0 0.00278032 0 0 AC096579.13 0 broad.mit.edu 37 2 89160296 89160296 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:89160296G>A ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA CTTTTTGAAAGAATCTGGTAC 0.358000 5 18 0 0 0.000602214 0 0 TP63 8626 broad.mit.edu 37 3 189456456 189456456 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:189456456G>A ENST00000264731.3 + 3 306 c.217G>A c.(217-219)Gac>Aac p.D73N TP63_ENST00000392460.3_Missense_Mutation_p.D73N|TP63_ENST00000320472.5_Missense_Mutation_p.D73N|TP63_ENST00000440651.2_Missense_Mutation_p.D73N|TP63_ENST00000418709.2_Missense_Mutation_p.D73N|TP63_ENST00000382063.4_Missense_Mutation_p.D73N NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 73 Transcription activation. 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) TCAGCCCATTGACTTGAACTT 0.428000 HNSCC(45;0.13) 28 61 0 0 0.00178596 0 0 FABP2 2169 broad.mit.edu 37 4 120243201 120243201 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:120243201C>T ENST00000274024.3 - 1 344 c.57G>A c.(55-57)atG>atA p.M19I NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 19 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 CCATTTTTTCCATGAACTTGT 0.388000 45 72 0 0 0.00361006 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672117 77672117 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:77672117G>A ENST00000407578.2 - 56 9438 c.9172C>T c.(9172-9174)Cat>Tat p.H3058Y MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3020Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3020Y NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3020 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGTTCAGGATGAAACTTTAGG 0.398000 24 30 0 0 0.00395357 0 0 KIAA1715 80856 broad.mit.edu 37 2 176856982 176856982 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:176856982G>A ENST00000272748.4 - 4 481 c.234C>T c.(232-234)ctC>ctT p.L78L KIAA1715_ENST00000544803.1_Silent_p.L78L|KIAA1715_ENST00000535310.1_Silent_p.L3L NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 78 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) CAAAAAATGGGAGTGTCATGG 0.303000 5 25 0 0 0.00116845 0 0 DGKK 139189 broad.mit.edu 37 X 50163489 50163489 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:50163489C>T ENST00000376025.2 - 0 913 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGTGATTTTTCGTTGTGGTGT 0.383000 39 17 0 0 0.0025221 0 0 COL3A1 1281 broad.mit.edu 37 2 189859281 189859281 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:189859281G>A ENST00000304636.3 + 19 1478 c.1308G>A c.(1306-1308)aaG>aaA p.K436K COL3A1_ENST00000317840.5_Silent_p.K436K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 436 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGCCTGGTAAGAATGGTGCCA 0.393000 19 36 0 0 0.00332997 0 0 CCKAR 886 broad.mit.edu 37 4 26483532 26483532 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:26483532C>T ENST00000295589.3 - 5 1209 c.1015G>A c.(1015-1017)Gac>Aac p.D339N NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 339 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) GAGGCGGTGTCGTAGGCCCGC 0.597000 12 28 0 0 0.00136819 0 0 CNR1 1268 broad.mit.edu 37 6 88853983 88853983 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:88853983C>T ENST00000537554.1 - 2 4573 c.1011G>A c.(1009-1011)atG>atA p.M337I CNR1_ENST00000369499.2_Missense_Mutation_p.M337I|CNR1_ENST00000549716.1_Missense_Mutation_p.M276I|CNR1_ENST00000369501.2_Missense_Mutation_p.M337I|CNR1_ENST00000428600.2_Missense_Mutation_p.M337I|CNR1_ENST00000535130.1_Missense_Mutation_p.M337I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.M304I|CNR1_ENST00000549890.1_Missense_Mutation_p.M337I NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 337 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.M337I(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACCTAATGTCCATGCGGGCTT 0.557000 23 57 0 0 0.00106085 0 0 GRM7 2917 broad.mit.edu 37 3 7348240 7348240 + Missense_Mutation SNP G G A rs140116291 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7348240G>A ENST00000486284.1 + 4 1208 c.934G>A c.(934-936)Gga>Aga p.G312R GRM7_ENST00000403881.1_Missense_Mutation_p.G312R|GRM7_ENST00000402647.2_Missense_Mutation_p.G312R|GRM7_ENST00000389336.4_Missense_Mutation_p.G312R|GRM7_ENST00000357716.4_Missense_Mutation_p.G312R NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 312 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) TCTTTGGGTGGGATCAGACAG 0.483000 35 54 0 0 0.00375469 0 0 NMD3 51068 broad.mit.edu 37 3 160952972 160952972 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:160952972G>A ENST00000460469.1 + 6 1004 c.549G>A c.(547-549)caG>caA p.Q183Q NMD3_ENST00000472947.1_Silent_p.Q183Q|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Silent_p.Q183Q Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 183 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GAATGCATCAGAATACACTTC 0.269000 30 34 0 0 0.0024448 0 0 C1orf168 199920 broad.mit.edu 37 1 57257927 57257927 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:57257927C>T ENST00000343433.6 - 2 639 c.559G>A c.(559-561)Gaa>Aaa p.E187K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 187 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 CCTTTTGTTTCCAGCTTTTTC 0.483000 31 66 0 0 0.00209593 0 0 C3orf30 152405 broad.mit.edu 37 3 118865837 118865837 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:118865837G>A ENST00000295622.1 + 1 841 c.801G>A c.(799-801)agG>agA p.R267R NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 267 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GGAAAGTTAGGAGAAGAAGTT 0.498000 15 69 0 0 0.000566183 0 0 PPP4R4 57718 broad.mit.edu 37 14 94718218 94718218 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:94718218C>T ENST00000304338.3 + 16 2004 c.1850C>T c.(1849-1851)cCa>cTa p.P617L NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 617 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ACACATGATCCAGTAGCAAAT 0.284000 14 36 0 0 0.00400662 0 0 SAMD4B 55095 broad.mit.edu 37 19 39847698 39847698 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:39847698C>T ENST00000314471.6 + 5 1200 c.165C>T c.(163-165)atC>atT p.I55I SAMD4B_ENST00000596368.1_Silent_p.I55I|SAMD4B_ENST00000598913.1_Silent_p.I55I|SAMD4B_ENST00000594204.1_3'UTR NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 55 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) GCAATGACATCCACCTGCTGG 0.592000 6 11 0 0 0.00307968 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81070875 81070875 + Silent SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:81070875C>A ENST00000334512.5 + 24 3602 c.3030C>A c.(3028-3030)ccC>ccA p.P1010P ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1010 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTTTAACCCCTCCTCAGCCT 0.672000 7 170 0.00307968 0.00697728 0.00307968 1 0 SAMD9L 219285 broad.mit.edu 37 7 92761312 92761312 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:92761312C>T ENST00000318238.4 - 5 5189 c.3973G>A c.(3973-3975)Gag>Aag p.E1325K SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1325K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1325K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1325 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) CAATTCTCCTCCTGGAGTAAT 0.393000 20 24 0 0 0.000958276 0 0 DSCAM 1826 broad.mit.edu 37 21 41559882 41559882 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:41559882G>A ENST00000400454.1 - 13 3063 c.2586C>T c.(2584-2586)ttC>ttT p.F862F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 862 Ig-like C2-type 9. 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) GGCAGGAAAAGAAACCAGAAT 0.403000 14 32 0 0 0.000566183 0 0 AP4E1 23431 broad.mit.edu 37 15 51260513 51260513 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:51260513G>A ENST00000261842.5 + 15 2011 c.1905G>A c.(1903-1905)caG>caA p.Q635Q AP4E1_ENST00000560508.1_Silent_p.Q560Q NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 635 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GACTCAGTCAGGGTGCAGCGC 0.373000 6 11 0 0 0.00307968 0 0 MDK 4192 broad.mit.edu 37 11 46405032 46405032 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46405032G>A ENST00000405308.2 + 5 849 c.420G>A c.(418-420)aaG>aaA p.K140K MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395565.1_Silent_p.K140K|MDK_ENST00000359803.3_Silent_p.K140K|MDK_ENST00000395569.4_Silent_p.K84K|MDK_ENST00000407067.1_Silent_p.K140K|MDK_ENST00000395566.4_Silent_p.K140K NM_001270550.1 NP_001257479.1 P21741 MK_HUMAN midkine (neurite growth-promoting factor 2) 140 adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction extracellular region growth factor activity|heparin binding lung(1) 1 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) AGAAAGGGAAGGGAAAGGACT 0.572000 OREG0020943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 44 0 0 0.00136819 0 0 THRB 7068 broad.mit.edu 37 3 24185134 24185134 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:24185134C>T ENST00000396671.2 - 8 944 c.596G>A c.(595-597)aGa>aAa p.R199K THRB_ENST00000280696.5_Missense_Mutation_p.R214K|THRB_ENST00000416420.1_Missense_Mutation_p.R199K|THRB_ENST00000356447.4_Missense_Mutation_p.R199K NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 199 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) TTCCCGCCGTCTTTTCTCCCG 0.572000 23 69 0 0 0.00395357 0 0 FMN2 56776 broad.mit.edu 37 1 240256867 240256867 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:240256867G>A ENST00000319653.9 + 1 1688 c.1458G>A c.(1456-1458)acG>acA p.T486T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 486 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTGACTGGACGGAGGAGCTAG 0.761000 4 7 0 0 0.00024832 0 0 ADAM7 8756 broad.mit.edu 37 8 24304772 24304772 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:24304772C>T ENST00000175238.6 + 3 313 c.230C>T c.(229-231)tCc>tTc p.S77F ADAM7_ENST00000380789.1_Missense_Mutation_p.S77F|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S77F NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 77 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTTCTAAGATCCAGGTAAGTT 0.318000 16 23 0 0 0.00400662 0 0 DAB2IP 153090 broad.mit.edu 37 9 124530806 124530806 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:124530806C>T ENST00000408936.3 + 10 1975 c.1793C>T c.(1792-1794)cCc>cTc p.P598L DAB2IP_ENST00000309989.1_Missense_Mutation_p.P474L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P570L Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 598 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 ATCTCCAACCCCGAGACCCTC 0.587000 26 20 0 0 0.00395357 0 0 TCEB3 6924 broad.mit.edu 37 1 24077804 24077804 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:24077804G>A ENST00000418390.2 + 4 1058 c.787G>A c.(787-789)Ggg>Agg p.G263R NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 263 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCATGGGAAAGGGGTTGTGAG 0.542000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 36 0 0 0.00152264 0 0 DHCR7 1717 broad.mit.edu 37 11 71146749 71146749 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:71146749C>T ENST00000355527.3 - 9 1376 c.1100G>A c.(1099-1101)cGc>cAc p.R367H DHCR7_ENST00000407721.2_Missense_Mutation_p.R367H NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 367 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GATGAGGCAGCGCCCATCCGT 0.662000 Smith-Lemli-Opitz syndrome 10 33 0 0 0.000673444 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409662 22409662 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22409662C>T ENST00000390441.2 + 0 208 GGATACCCTTCCCTTTTCTGG 0.502000 13 25 0 0 0.00185496 0 0 ZNF214 7761 broad.mit.edu 37 11 7021941 7021941 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7021941G>A ENST00000278314.4 - 3 1288 c.973C>T c.(973-975)Cac>Tac p.H325Y ZNF214_ENST00000536068.1_Missense_Mutation_p.H325Y NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTTCTGTGTGGACTCTTTGA 0.393000 25 47 0 0 0.00127121 0 0 GPR112 139378 broad.mit.edu 37 X 135469928 135469928 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:135469928G>A ENST00000394143.1 + 16 8097 c.7806G>A c.(7804-7806)ggG>ggA p.G2602G GPR112_ENST00000412101.1_Silent_p.G2397G|GPR112_ENST00000394141.1_Silent_p.G2397G|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.G2602G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2602 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) CTGTGGGAGGGATTTTGGCTT 0.413000 47 14 0 0 0.00361006 0 0 FBXO40 51725 broad.mit.edu 37 3 121340479 121340479 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:121340479C>T ENST00000338040.4 + 3 617 c.203C>T c.(202-204)tCc>tTc p.S68F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 68 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) TGCCTCAACTCCGAATATGGC 0.602000 17 70 0 0 0.000958276 0 0 ENPP3 5169 broad.mit.edu 37 6 132014660 132014660 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:132014660C>G ENST00000414305.1 + 16 1636 c.1308C>G c.(1306-1308)ttC>ttG p.F436L ENPP3_ENST00000357639.3_Missense_Mutation_p.F436L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F436L O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 436 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ATCAGCATTTCAAGCCCTATT 0.373000 22 44 0 0 0.000720815 0 0 GPR113 165082 broad.mit.edu 37 2 26534871 26534871 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:26534871C>T ENST00000333478.6 - 8 1710 c.1128G>A c.(1126-1128)cgG>cgA p.R376R GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.R506R|GPR113_ENST00000541401.1_Silent_p.R178R|GPR113_ENST00000311519.1_Silent_p.R575R NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 575 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCAGGGCTTCCGGGCTTGGG 0.597000 19 65 0 0 0.000958276 0 0 ATF7IP 55729 broad.mit.edu 37 12 14610217 14610217 + Missense_Mutation SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:14610217C>G ENST00000544627.1 + 8 2490 c.2170C>G c.(2170-2172)Cct>Gct p.P724A ATF7IP_ENST00000536444.1_Missense_Mutation_p.P715A|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P716A|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P715A|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P716A Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 716 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CTTTCAAACTCCTGTGAATAC 0.353000 5 18 0 0 0.00116845 0 0 RBKS 64080 broad.mit.edu 37 2 28055587 28055587 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:28055587G>A ENST00000302188.3 - 6 1324 c.572C>T c.(571-573)aCc>aTc p.T191I RBKS_ENST00000444339.2_Missense_Mutation_p.T191I NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 191 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) ATCTGAGAGGGTGTAGAACTG 0.413000 27 64 0 0 0.00127121 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099569 142099569 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142099569C>T ENST00000390359.3 - 0 271 ACTGGGCAGCCCCGATTTGTC 0.532000 20 35 0 0 0.00121646 0 0 TRPV5 56302 broad.mit.edu 37 7 142630471 142630471 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142630471C>T ENST00000265310.1 - 1 434 c.86G>A c.(85-87)tGg>tAg p.W29* TRPV5_ENST00000442623.1_Nonsense_Mutation_p.W29* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 29 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity 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) GTGCTGGTCCCAGTCTTGTTC 0.567000 32 49 0 0 0.00209593 0 0 DSPP 1834 broad.mit.edu 37 4 88533324 88533324 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:88533324C>T ENST00000399271.1 + 3 239 c.119C>T c.(118-120)tCa>tTa p.S40L DSPP_ENST00000282478.7_Missense_Mutation_p.S40L|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 40 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent p.S40*(1) breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CTAGCAAGATCAAATGTGTCA 0.358000 11 15 0 0 0.000978159 0 0 PSG1 5669 broad.mit.edu 37 19 43373113 43373113 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:43373113G>A ENST00000244296.2 - 4 920 c.783C>T c.(781-783)acC>acT p.T261T PSG1_ENST00000403380.3_Silent_p.T168T|PSG1_ENST00000312439.6_Silent_p.T261T|PSG1_ENST00000436291.2_Silent_p.T261T|PSG1_ENST00000595356.1_Silent_p.T261T|PSG1_ENST00000595124.1_Silent_p.T168T NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TAGGTTCACAGGTGAAGTTTA 0.478000 52 104 0 0 0.00361006 0 0 TIE1 7075 broad.mit.edu 37 1 43779520 43779520 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:43779520G>A ENST00000372476.3 + 14 2369 c.2290G>A c.(2290-2292)Gcg>Acg p.A764T TIE1_ENST00000433781.2_Missense_Mutation_p.A409T|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 764 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTGATCCTGGCGGTGGTGGG 0.637000 16 32 0 0 0.00400662 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457125 49457125 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49457125G>A ENST00000374201.3 - 3 550 c.248C>T c.(247-249)cCt>cTt p.P83L FRMPD2_ENST00000305531.3_Missense_Mutation_p.P81L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P74L NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 83 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGCCTTGAAAGGAGCAGCCTC 0.532000 10 19 0 0 0.000673444 0 0 PARN 5073 broad.mit.edu 37 16 14676080 14676080 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:14676080A>G ENST00000437198.2 - 17 1291 c.1150T>C c.(1150-1152)Tac>Cac p.Y384H PARN_ENST00000539279.1_Missense_Mutation_p.Y209H|PARN_ENST00000420015.2_Missense_Mutation_p.Y338H|PARN_ENST00000341484.7_Missense_Mutation_p.Y323H NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 384 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 CCTGTGATGTAGGCATCGTAG 0.448000 57 116 0 0 0.00361006 0 0 ADORA3 140 broad.mit.edu 37 1 112042915 112042915 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:112042915C>T ENST00000241356.4 - 2 1019 c.614G>A c.(613-615)cGg>cAg p.R205Q ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 205 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GAGTTTGTTCCGAATGATGTA 0.428000 12 33 0 0 0.00185496 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407230 62407230 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:62407230G>A ENST00000245663.4 - 3 1173 c.1023C>T c.(1021-1023)ctC>ctT p.L341L ZBTB46_ENST00000395104.1_Silent_p.L341L|ZBTB46_ENST00000302995.2_Silent_p.L341L NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 341 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) CTCCTCCCAGGAGACCCTCCT 0.677000 14 33 0 0 0.00185496 0 0 ERP27 121506 broad.mit.edu 37 12 15090942 15090942 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:15090942G>A ENST00000266397.2 - 2 712 c.139C>T c.(139-141)Cca>Tca p.P47S NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 47 Thioredoxin. endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 ATGGCAGCTGGGACATCTGTG 0.517000 32 67 0 0 0.00428921 0 0 BRPF3 27154 broad.mit.edu 37 6 36168457 36168457 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:36168457C>T ENST00000357641.6 + 2 611 c.358C>T c.(358-360)Cgt>Tgt p.R120C BRPF3_ENST00000339717.7_Missense_Mutation_p.R120C|BRPF3_ENST00000534400.1_Missense_Mutation_p.R120C|BRPF3_ENST00000543502.1_Missense_Mutation_p.R120C|BRPF3_ENST00000443324.2_Missense_Mutation_p.R120C|BRPF3_ENST00000534694.1_Missense_Mutation_p.R120C NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 120 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GCCCAGCTTCCGTATGGTGGA 0.562000 19 59 0 0 0.00121646 0 0 HHIP 64399 broad.mit.edu 37 4 145636561 145636561 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:145636561G>A ENST00000296575.3 + 10 2312 c.1657G>A c.(1657-1659)Gga>Aga p.G553R NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 553 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCACATCTTGGGATTTGGAGA 0.433000 20 42 0 0 0.00188189 0 0 TTN 7273 broad.mit.edu 37 2 179639084 179639084 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179639084C>T ENST00000589042.1 - 30 7131 c.6907G>A c.(6907-6909)Gat>Aat p.D2303N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D2257N|TTN_ENST00000359218.5_Missense_Mutation_p.D2257N|TTN_ENST00000342175.6_Missense_Mutation_p.D2257N|TTN_ENST00000342992.6_Missense_Mutation_p.D2303N|TTN_ENST00000360870.5_Missense_Mutation_p.D2303N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D2303N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2015 Ig-like 12. 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) AGCTCCACATCATTATGATAC 0.398000 17 65 0 0 0.00074312 0 0 FBXL19 54620 broad.mit.edu 37 16 30941595 30941595 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:30941595C>T ENST00000338343.4 + 7 1378 c.991C>T c.(991-993)Cgg>Tgg p.R331W FBXL19_ENST00000562319.1_Missense_Mutation_p.R331W|FBXL19_ENST00000471231.2_Missense_Mutation_p.R39W|FBXL19_ENST00000565690.1_Missense_Mutation_p.R215W|FBXL19_ENST00000380310.2_Missense_Mutation_p.R351W Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 351 Ser-rich. DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CGGCGAGGCCCGGAATGGGCG 0.706000 7 15 0 0 0.00307968 0 0 CCDC33 80125 broad.mit.edu 37 15 74623056 74623056 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:74623056G>A ENST00000321288.5 + 15 2118 c.2118G>A c.(2116-2118)agG>agA p.R706R CCDC33_ENST00000558821.1_Silent_p.R96R|CCDC33_ENST00000268082.4_Silent_p.R96R|CCDC33_ENST00000398814.3_Silent_p.R503R Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 706 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGAAACTGAGGGACAGGGTGC 0.582000 14 29 0 0 0.00316338 0 0 GPC5 2262 broad.mit.edu 37 13 93518546 93518546 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:93518546G>A ENST00000377067.3 + 8 1945 c.1573G>A c.(1573-1575)Gat>Aat p.D525N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 525 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATGCCAGATGATATGAACTT 0.433000 13 29 0 0 0.00316338 0 0 VIP 7432 broad.mit.edu 37 6 153073340 153073340 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:153073340C>T ENST00000367244.3 + 2 200 c.28C>T c.(28-30)Ctt>Ttt p.L10F VIP_ENST00000367243.3_Missense_Mutation_p.L10F NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 10 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GGCCCAGCTCCTTGTGCTCCT 0.478000 14 31 0 0 0.00244969 0 0 AP3B1 8546 broad.mit.edu 37 5 77412018 77412018 + Missense_Mutation SNP T T C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:77412018T>C ENST00000255194.6 - 18 2184 c.2009A>G c.(2008-2010)aAt>aGt p.N670S AP3B1_ENST00000519295.1_Missense_Mutation_p.N621S NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 670 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CTTAGCAGAATTCTCTTGCTT 0.348000 Hermansky-Pudlak syndrome 20 40 0 0 0.00152264 0 0 FBXO6 26270 broad.mit.edu 37 1 11731999 11731999 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:11731999C>T ENST00000376753.4 + 4 563 c.428C>T c.(427-429)tCc>tTc p.S143F NM_018438.5 NP_060908.1 Q9NRD1 FBX6_HUMAN F-box protein 6 143 FBA. SQ -> WE (in Ref. 1; AAF04470). DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTCAAGTCCCAGCTGGTG 0.627000 4 18 0 0 0.00024832 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75552441 75552441 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:75552441C>T ENST00000604729.1 + 10 2441 c.2144C>T c.(2143-2145)aCc>aTc p.T715I ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T715I|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T682I zinc finger, SWIM-type containing 8 CTTCCCAAAACCAAAGAGGCA 0.602000 5 35 0 0 0.000602214 0 0 MYLK 4638 broad.mit.edu 37 3 123367818 123367818 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:123367818G>A ENST00000360772.3 - 27 4793 c.4415_splice c.e27+1 p.S1472_splice MYLK_ENST00000360304.3_Splice_Site_p.S1472_splice|MYLK_ENST00000359169.1_Splice_Site_p.S1472_splice|MYLK_ENST00000354792.5_Splice_Site_p.S272_splice|MYLK_ENST00000346322.5_Splice_Site_p.S1403_splice|MYLK_ENST00000475616.1_Splice_Site_p.S1472_splice Q15746 MYLK_HUMAN myosin light chain kinase 1472 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.S1472Y(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCACTTACGATCCTAATCT 0.527000 22 48 0 0 0.00395357 0 0 DSC1 1823 broad.mit.edu 37 18 28711671 28711671 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:28711671G>A ENST00000257197.3 - 15 2634 c.2373C>T c.(2371-2373)tcC>tcT p.S791S RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S791S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 791 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTCCTTTGTTGGAATCCAAAG 0.498000 49 91 0 0 0.00361006 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555341 44555341 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:44555341C>T ENST00000330682.2 - 1 1108 c.873G>A c.(871-873)atG>atA p.M291I KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCTGGGAGGTCATGGCCTCAA 0.617000 10 270 0 0 0.00185496 0 0 QARS 5859 broad.mit.edu 37 3 49139286 49139286 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:49139286C>T ENST00000306125.6 - 8 1015 c.678G>A c.(676-678)ggG>ggA p.G226G QARS_ENST00000414533.1_Silent_p.G215G|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Silent_p.G244G P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 226 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TAAGGGCCTCCCCCCGGAGCT 0.552000 6 8 0 0 0.00116845 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48897015 48897015 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:48897015G>A ENST00000394754.1 + 9 3359 c.3245G>A c.(3244-3246)gGg>gAg p.G1082E GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G378E|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G344E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1082E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1082E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1035E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1082E NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1035 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATATTGACGGGGGAGATCTG 0.383000 16 29 0 0 0.00316338 0 0 TNP2 7142 broad.mit.edu 37 16 11361865 11361865 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:11361865C>T ENST00000312693.3 - 2 474 c.405G>A c.(403-405)tgG>tgA p.W135* RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 135 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 AGTTGGATTTCCATCCTAAGG 0.443000 6 15 0 0 0.000274275 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175233 193175233 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:193175233C>T ENST00000342695.4 - 15 2018 c.1696G>A c.(1696-1698)Gat>Aat p.D566N ATP13A4_ENST00000392443.3_Missense_Mutation_p.D547N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 566 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.D566N(1) 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) ATGTGGAAATCGTCCCCAGAA 0.478000 30 100 0 0 0.00178596 0 0 TRAV40 28641 broad.mit.edu 37 14 22783182 22783182 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22783182C>T ENST00000390467.3 + 0 148 GTACCCTACCCTTTTCTGGTA 0.478000 17 11 0 0 0.00152264 0 0 OR11L1 391189 broad.mit.edu 37 1 248004498 248004498 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248004498C>T ENST00000355784.2 - 1 756 c.701G>A c.(700-702)cGg>cAg p.R234Q NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234Q(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) GGTCTTTCTCCGGCCAGAGGT 0.502000 16 30 0 0 0.00316338 0 0 FAT3 120114 broad.mit.edu 37 11 92525957 92525957 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:92525957C>T ENST00000298047.6 + 8 4653 c.4636C>T c.(4636-4638)Cga>Tga p.R1546* FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1546*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1396* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1546 Cadherin 14. 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) GTTTCCTTATCGAAGAAACTT 0.418000 TCGA Ovarian(4;0.039) 123 315 0 0 0.00361006 0 0 CHD5 26038 broad.mit.edu 37 1 6206355 6206355 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:6206355G>A ENST00000262450.3 - 11 1818 c.1719C>T c.(1717-1719)ccC>ccT p.P573P CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 573 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGGCATAGAGGGGGTCCTTGT 0.547000 33 58 0 0 0.00327116 0 0 ABLIM2 84448 broad.mit.edu 37 4 8098853 8098853 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:8098853G>A ENST00000296372.8 - 3 453 c.311C>T c.(310-312)cCc>cTc p.P104L ABLIM2_ENST00000447017.2_Missense_Mutation_p.P104L|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P104L|ABLIM2_ENST00000428004.2_Missense_Mutation_p.P104L|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000407564.3_Missense_Mutation_p.P104L|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P104L|ABLIM2_ENST00000505872.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000546334.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000361737.5_Missense_Mutation_p.P104L Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 104 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GAAGCAGTCGGGGTGGTAGGT 0.637000 3 7 0 0 0.00024832 0 0 NPHP3 27031 broad.mit.edu 37 3 132440868 132440868 + Missense_Mutation SNP G G C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:132440868G>C ENST00000326682.8 - 1 408 c.332C>G c.(331-333)tCc>tGc p.S111C NPHP3_ENST00000383282.2_Missense_Mutation_p.S111C|NPHP3_ENST00000337331.5_Missense_Mutation_p.S111C|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Missense_Mutation_p.S111C Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 111 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCGGCCCATGGACAACAACTC 0.672000 40 14 0 0 0.00361006 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938752 2938752 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:2938752C>T ENST00000378404.2 + 1 707 c.502C>T c.(502-504)Ccc>Tcc p.P168S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 168 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTGCACTGTCCCCATCTTTGA 0.657000 12 30 0 0 0.00185496 0 0 TRIM51 84767 broad.mit.edu 37 11 55655529 55655529 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55655529G>A ENST00000449290.2 + 4 621 c.529G>A c.(529-531)Gaa>Aaa p.E177K TRIM51_ENST00000244891.3_Missense_Mutation_p.E34K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 177 intracellular zinc ion binding TTTAAGGATAGAAGCAATCAG 0.388000 11 15 0 0 0.00136819 0 0 NARS2 79731 broad.mit.edu 37 11 78147748 78147748 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:78147748A>G ENST00000281038.5 - 14 1777 c.1402T>C c.(1402-1404)Ttc>Ctc p.F468L RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Missense_Mutation_p.F241L NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 468 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AACCTTGGGAAAGGGATAACA 0.463000 63 138 0 0 0.00361006 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138413516 138413516 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:138413516C>T ENST00000310018.2 - 18 2282 c.2000G>A c.(1999-2001)cGg>cAg p.R667Q ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R667Q|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R667Q NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 667 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGGGATTTCCGATGACTGGC 0.433000 66 135 0 0 0.00361006 0 0 CCDC80 151887 broad.mit.edu 37 3 112357285 112357285 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:112357285C>T ENST00000206423.3 - 2 2421 c.1468G>A c.(1468-1470)Gag>Aag p.E490K CCDC80_ENST00000439685.2_Missense_Mutation_p.E490K NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 490 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGAGGTTTCTCCTTTGCTGGC 0.572000 33 75 0 0 0.00283554 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802814 124802814 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:124802814C>T ENST00000423114.2 - 14 2151 c.2152G>A c.(2152-2154)Gag>Aag p.E718K SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350K|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490K A0AV02 S12A8_HUMAN solute carrier family 12, member 8 689 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TCTGCATTCTCCTGGGTGAGC 0.592000 7 16 0 0 0.00307968 0 0 TTN 7273 broad.mit.edu 37 2 179641514 179641514 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179641514C>T ENST00000589042.1 - 28 5301 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N TTN_ENST00000460472.2_Missense_Mutation_p.D1647N|TTN_ENST00000359218.5_Missense_Mutation_p.D1647N|TTN_ENST00000342175.6_Missense_Mutation_p.D1647N|TTN_ENST00000342992.6_Missense_Mutation_p.D1693N|TTN_ENST00000360870.5_Missense_Mutation_p.D1693N|TTN_ENST00000591111.1_Missense_Mutation_p.D1693N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1447 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) TCATAGAGATCACCTTCTTCC 0.463000 17 42 0 0 0.000958276 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926624 157926624 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:157926624G>A ENST00000389413.3 - 9 1404 c.1301C>T c.(1300-1302)tCc>tTc p.S434F PTPRN2_ENST00000404321.2_Missense_Mutation_p.S457F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S417F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S434F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S396F NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 434 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) TGAAGACAGGGAAGACTCAGG 0.617000 30 58 0 0 0.00283554 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611168 62611168 + Missense_Mutation SNP C C A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:62611168C>A ENST00000281156.4 - 5 870 c.592G>T c.(592-594)Gct>Tct p.A198S NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GCTGTGGGAGCTATTCTGATC 0.408000 17 41 1.99824e-07 4.57279e-07 0.000566183 1 0 SLC46A3 283537 broad.mit.edu 37 13 29286936 29286936 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:29286936C>T ENST00000266943.6 - 3 1310 c.941G>A c.(940-942)gGa>gAa p.G314E SLC46A3_ENST00000380814.4_Missense_Mutation_p.G314E NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 314 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) AAGCCATATTCCTAGGAAACT 0.383000 28 47 0 0 0.001512 0 0 LYSMD1 388695 broad.mit.edu 37 1 151134321 151134321 + Missense_Mutation SNP G G A rs138522958 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:151134321G>A ENST00000368908.5 - 2 1096 c.436C>T c.(436-438)Ccc>Tcc p.P146S LYSMD1_ENST00000440902.2_Missense_Mutation_p.P98S NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 146 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 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) ATGGGCGTGGGGGTTTCCTGG 0.517000 34 78 0 0 0.00283554 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661584 133661584 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:133661584C>T ENST00000310926.4 - 11 1763 c.1490G>A c.(1489-1491)gGg>gAg p.G497E SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G421E NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 497 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGCGGATCCCCCGGTCACACA 0.527000 16 59 0 0 0.00074312 0 0 SYVN1 84447 broad.mit.edu 37 11 64898201 64898201 + Missense_Mutation SNP G G T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:64898201G>T ENST00000526060.1 - 11 1228 c.1036C>A c.(1036-1038)Ccg>Acg p.P346T SYVN1_ENST00000307289.6_Missense_Mutation_p.P295T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P346T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P346T|SYVN1_ENST00000526121.1_5'UTR Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 346 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GCAGGCTCCGGGGGTGGTGGT 0.692000 8 29 1.12685e-05 2.56899e-05 0.000274275 1 0 TTN 7273 broad.mit.edu 37 2 179569665 179569665 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179569665C>T ENST00000589042.1 - 104 29857 c.29633G>A c.(29632-29634)aGg>aAg p.R9878K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8634K|TTN_ENST00000591111.1_Missense_Mutation_p.R9561K|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9561 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) CTTTTCGTCCCTCTCTGACCT 0.328000 26 79 0 0 0.00127121 0 0 ZFP3 124961 broad.mit.edu 37 17 4995531 4995531 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:4995531G>A ENST00000318833.3 + 2 1068 c.732G>A c.(730-732)caG>caA p.Q244Q NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 TTCTACACCAGAGAATCCATA 0.383000 11 34 0 0 0.00185496 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95109925 95109925 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:95109925G>A ENST00000469935.1 + 0 962 NR_015340.1 CTTCCTGCACGACCGTGAGCT 0.582000 12 27 0 0 0.00136819 0 0 ETV7 51513 broad.mit.edu 37 6 36339258 36339258 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:36339258G>A ENST00000373738.1 - 4 1193 c.348C>T c.(346-348)ttC>ttT p.F116F ETV7_ENST00000538992.1_Silent_p.F20F|ETV7_ENST00000340181.4_Silent_p.F171F|ETV7_ENST00000339796.5_Silent_p.F171F|ETV7_ENST00000373737.4_Intron NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 171 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CCAGGTGGCCGAAGTTGCTGG 0.637000 6 17 0 0 0.00198382 0 0 ADORA3 140 broad.mit.edu 37 1 112042914 112042914 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:112042914C>T ENST00000241356.4 - 2 1020 c.615G>A c.(613-615)cgG>cgA p.R205R ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 205 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGAGTTTGTTCCGAATGATGT 0.428000 12 32 0 0 0.00136819 0 0 PRR15L 79170 broad.mit.edu 37 17 46030479 46030479 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:46030479C>T ENST00000300557.2 - 2 372 c.122G>A c.(121-123)aGg>aAg p.R41K RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 41 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 AGCGTCAGGCCTCGGGGGTTC 0.542000 92 52 0 0 0.00361006 0 0 GRM7 2917 broad.mit.edu 37 3 7620766 7620766 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7620766C>T ENST00000486284.1 + 8 2447 c.2173C>T c.(2173-2175)Cca>Tca p.P725S GRM7_ENST00000403881.1_Missense_Mutation_p.P725S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.P725S|GRM7_ENST00000389336.4_Missense_Mutation_p.P725S|GRM7_ENST00000357716.4_Missense_Mutation_p.P725S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 725 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) TGGTGTTGATCCACCCAACAT 0.433000 14 35 0 0 0.00244969 0 0 PREX2 80243 broad.mit.edu 37 8 69046410 69046410 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:69046410G>A ENST00000288368.4 + 32 4160 c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K 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 1295 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity 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 CAACAGCAAGGAAAATGAGAT 0.498000 24 54 0 0 0.00395357 0 0 IL20RA 53832 broad.mit.edu 37 6 137325798 137325798 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:137325798C>T ENST00000367748.1 - 5 1077 c.491G>A c.(490-492)cGa>cAa p.R164Q IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Missense_Mutation_p.R226Q|IL20RA_ENST00000316649.5_Missense_Mutation_p.R275Q Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 275 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GTGGATATATCGGTAGATGGA 0.413000 38 71 0 0 0.00170553 0 0 LHPP 64077 broad.mit.edu 37 10 126172720 126172720 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:126172720C>T ENST00000368842.5 + 2 166 c.138C>T c.(136-138)tcC>tcT p.S46S LHPP_ENST00000392757.4_Silent_p.S46S|LHPP_ENST00000368839.1_Silent_p.S46S NM_022126.3 NP_071409.3 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic pyrophosphate phosphatase 46 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity large_intestine(2)|lung(2) 4 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;0.163)|Colorectal(40;0.187) TGAAGCGTTCCCGGCTGAAGG 0.617000 5 18 0 0 0.000602214 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768843 140768843 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140768843G>A ENST00000519479.1 + 1 1392 c.1392G>A c.(1390-1392)ccG>ccA p.P464P PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCGCCTGGAGCCT 0.552000 30 65 0 0 0.001512 0 0 ASCC2 84164 broad.mit.edu 37 22 30185011 30185011 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30185011G>A ENST00000397771.2 - 21 2442 c.2265C>T c.(2263-2265)atC>atT p.I755I ASCC2_ENST00000542393.1_Silent_p.I679I|ASCC2_ENST00000307790.3_Silent_p.I755I Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 755 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTCAGGATGGGATCATGCCTT 0.632000 38 81 0 0 0.00111076 0 0 CTNND2 1501 broad.mit.edu 37 5 11117663 11117663 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:11117663C>T ENST00000304623.8 - 13 2365 c.2176G>A c.(2176-2178)Gga>Aga p.G726R CTNND2_ENST00000503622.1_Missense_Mutation_p.G389R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G726R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G635R|CTNND2_ENST00000458100.2_Missense_Mutation_p.G293R|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 726 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 GCCTCCTCTCCGGCCGAACTA 0.527000 27 48 0 0 0.000720815 0 0 OR2J3 442186 broad.mit.edu 37 6 29080300 29080300 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:29080300C>T ENST00000377169.1 + 1 633 c.633C>T c.(631-633)ctC>ctT p.L211L NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TATTTGTTCTCATACCTCTCA 0.448000 13 33 0 0 0.00136819 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181826 81181826 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:81181826G>A ENST00000394685.3 + 10 1398 c.979G>A c.(979-981)Gag>Aag p.E327K KIAA1199_ENST00000356249.5_Missense_Mutation_p.E327K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E327K Q8WUJ3 K1199_HUMAN KIAA1199 327 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGAGTGGACGGAGTGGTTCGA 0.483000 17 42 0 0 0.00121646 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507600 74507600 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:74507600C>T ENST00000354431.4 - 7 1206 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E339K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 339 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TCCACAATTTCATCTTCAGAC 0.308000 7 22 0 0 0.000442599 0 0 FAM91A1 157769 broad.mit.edu 37 8 124822612 124822612 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:124822612C>T ENST00000521166.1 + 23 2599 c.2352C>T c.(2350-2352)tcC>tcT p.S784S FAM91A1_ENST00000334705.7_Intron Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 0 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CCAAAAAGTCCAAATGGTACT 0.343000 21 70 0 0 0.00229938 0 0 WDR36 134430 broad.mit.edu 37 5 110462456 110462456 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:110462456G>A ENST00000506538.2 + 23 3304 c.2731G>A c.(2731-2733)Gag>Aag p.E911K WDR36_ENST00000513710.2_Missense_Mutation_p.E911K NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 911 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GCTTCCTTCAGAGCCAGTACT 0.318000 18 32 0 0 0.00229938 0 0 CHRM4 1132 broad.mit.edu 37 11 46406905 46406905 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46406905C>T ENST00000433765.2 - 1 1202 c.1203G>A c.(1201-1203)acG>acA p.T401T NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 401 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity p.T401T(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGGCAAAGATCGTTCGTGTCA 0.617000 10 18 0 0 0.000442599 0 0 RECK 8434 broad.mit.edu 37 9 36083446 36083446 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:36083446C>T ENST00000377966.3 + 8 1090 c.524C>T c.(523-525)cCt>cTt p.P175L RECK_ENST00000479053.1_3'UTR NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 175 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GACTCTTCTCCTGGTCCATCT 0.398000 17 27 0 0 0.000958276 0 0 VTCN1 79679 broad.mit.edu 37 1 117695783 117695783 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:117695783C>T ENST00000369458.3 - 4 732 c.654G>A c.(652-654)acG>acA p.T218T VTCN1_ENST00000328189.3_Silent_p.T102T|VTCN1_ENST00000359008.4_Silent_p.T221T|VTCN1_ENST00000539893.1_Silent_p.T123T NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 218 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGTTGTTGATCGTAACATTGT 0.438000 39 64 0 0 0.00128727 0 0 PDE1C 5137 broad.mit.edu 37 7 31904603 31904603 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:31904603C>T ENST00000396184.3 - 8 907 c.703G>A c.(703-705)Gat>Aat p.D235N PDE1C_ENST00000396191.1_Missense_Mutation_p.D235N|PDE1C_ENST00000396182.2_Missense_Mutation_p.D235N|PDE1C_ENST00000396193.1_Missense_Mutation_p.D295N|PDE1C_ENST00000321453.7_Missense_Mutation_p.D235N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 235 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 p.D235N(2) 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) TGTGTAACATCGGCAGCGTGC 0.453000 28 36 0 0 0.000878237 0 0 MCHR2 84539 broad.mit.edu 37 6 100368967 100368967 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:100368967G>A ENST00000281806.2 - 6 1186 c.872C>T c.(871-873)tCc>tTc p.S291F MCHR2_ENST00000369212.1_Missense_Mutation_p.S291F|MCHR2_ENST00000445970.1_Missense_Mutation_p.S291F NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 291 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GAGACAGATGGAGAGGTAATA 0.468000 23 44 0 0 0.00332997 0 0 EPPK1 83481 broad.mit.edu 37 8 144942406 144942406 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:144942406G>A ENST00000525985.1 - 2 5087 c.5016C>T c.(5014-5016)atC>atT p.I1672I P58107 EPIPL_HUMAN epiplakin 1 1672 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) GCTCCCGGACGATGAGGTCCT 0.687000 31 47 0 0 0.00209593 0 0 MYT1 4661 broad.mit.edu 37 20 62871696 62871696 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:62871696C>T ENST00000536311.1 + 23 3706 c.3342C>T c.(3340-3342)ttC>ttT p.F1114F MYT1_ENST00000328439.1_Silent_p.F1087F Q01538 MYT1_HUMAN myelin transcription factor 1 1087 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AACAGAATTTCGATGCCTATG 0.567000 9 29 0 0 0.000673444 0 0 GATA4 2626 broad.mit.edu 37 8 11606556 11606556 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:11606556G>A ENST00000335135.4 + 3 1303 c.745G>A c.(745-747)Ggc>Agc p.G249S GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 249 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CAAGATGAACGGCATCAACCG 0.637000 12 31 0 0 0.00136819 0 0 CWH43 80157 broad.mit.edu 37 4 49005952 49005952 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:49005952G>A ENST00000226432.4 + 7 1186 c.1003G>A c.(1003-1005)Gct>Act p.A335T CWH43_ENST00000513409.1_Missense_Mutation_p.A308T NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 335 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 CTGGTGCACAGCTTTTAAGTT 0.393000 9 19 0 0 0.000442599 0 0 PPP6C 5537 broad.mit.edu 37 9 127923119 127923119 + Splice_Site SNP C C G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:127923119C>G ENST00000451402.1 - 4 569 c.e4+1 PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Splice_Site|PPP6C_ENST00000415905.1_Intron NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TGTTTACATACCATAAATATG 0.328000 16 13 0 0 0.000566183 0 0 FRMPD2 143162 broad.mit.edu 37 10 49420096 49420096 + Silent SNP G G A rs116034209 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49420096G>A ENST00000374201.3 - 13 1814 c.1512C>T c.(1510-1512)atC>atT p.I504I FRMPD2_ENST00000305531.3_Silent_p.I479I|FRMPD2_ENST00000407470.4_Silent_p.I472I NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 504 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCATCCTCTCGATCAGACTCG 0.532000 8 23 0 0 0.000274275 0 0 FCGBP 8857 broad.mit.edu 37 19 40398331 40398331 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:40398331C>T ENST00000221347.6 - 14 6643 c.6636G>A c.(6634-6636)ggG>ggA p.G2212G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2212 VWFD 5. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTTGTAGTTCCCGCATAAGC 0.692000 24 90 0 0 0.00209593 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603753 28603753 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:28603753C>T ENST00000533150.1 - 3 1623 c.507G>A c.(505-507)agG>agA p.R169R SULT1A2_ENST00000335715.4_Silent_p.R202R|SULT1A2_ENST00000395630.1_Silent_p.R202R P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 202 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TTTGAATCTCCCTTTTGGGGT 0.522000 7 45 0 0 0.00198382 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146570 70146570 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:70146570G>A ENST00000335568.5 + 1 354 c.352G>A c.(352-354)Gaa>Aaa p.E118K UGT2B28_ENST00000511240.1_Missense_Mutation_p.E118K NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 118 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AATCCTGTGGGAATTTCATGA 0.299000 35 67 0 0 0.00327116 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032214 10032214 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:10032214C>T ENST00000396573.2 - 4 918 c.609G>A c.(607-609)gtG>gtA p.V203V GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.V203V|GRIN2A_ENST00000535259.1_Silent_p.V46V|GRIN2A_ENST00000562109.1_Silent_p.V203V|GRIN2A_ENST00000330684.3_Silent_p.V203V|GRIN2A_ENST00000396575.2_Silent_p.V203V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 203 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 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) CCAGTGTGATCACATTCTGCA 0.498000 23 75 0 0 0.00127121 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622063 106622063 + RNA SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:106622063C>T ENST00000390604.2 - 0 255 CAGCCCCTTTCCTGGAGCCTT 0.567000 50 118 0 0 0.00361006 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186107 127186107 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:127186107C>T ENST00000371124.3 - 1 275 c.79G>A c.(79-81)Gga>Aga p.G27R NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 27 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCAATCTCTCCAGACAGGCCT 0.443000 24 6 0 0 0.00332997 0 0 TSPAN32 10077 broad.mit.edu 37 11 2337829 2337829 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:2337829C>T ENST00000182290.4 + 8 788 c.651C>T c.(649-651)tcC>tcT p.S217S TSPAN32_ENST00000381121.3_Silent_p.S217S|TSPAN32_ENST00000451520.2_Silent_p.S206S NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 217 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TCTTCAGCTCCTTCCTGTGGT 0.682000 12 31 0 0 0.00185496 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511808 233511808 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:233511808G>A ENST00000366624.3 + 7 2083 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K MLK4_ENST00000366622.1_Missense_Mutation_p.E54K NM_032435.2 NP_115811.2 AGATTGCAAAGAAAGGTACGT 0.348000 11 26 0 0 0.00244969 0 0 LOC440040 440040 broad.mit.edu 37 11 49597782 49597782 + RNA SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:49597782G>A ENST00000527477.1 + 0 386 TTATTAGCTGGAACTCCTGTC 0.478000 5 12 0 0 0.00116845 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983524 128983524 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:128983524C>T ENST00000274487.4 + 12 2066 c.1921C>T c.(1921-1923)Ctg>Ttg p.L641L CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 641 TSP type-1 1. 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) AGAGTGGAGCCTGTGGAGTCC 0.522000 40 85 0 0 0.00195071 0 0 PPM1L 151742 broad.mit.edu 37 3 160783293 160783293 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:160783293C>T ENST00000498165.1 + 3 778 c.677C>T c.(676-678)cCt>cTt p.P226L PPM1L_ENST00000295839.9_Missense_Mutation_p.P99L|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47L|PPM1L_ENST00000480117.1_3'UTR NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 226 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AACGCTATTCCTTTGTCTCAT 0.483000 29 39 0 0 0.00127121 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596214 24596214 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:24596214G>A ENST00000535378.1 - 4 1303 c.661C>T c.(661-663)Cct>Tct p.P221S KIAA0319_ENST00000543707.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P230S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P185S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 230 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 CTTCTCTCAGGGAGTTTTGGG 0.552000 9 12 0 0 0.000274275 0 0 PCM1 5108 broad.mit.edu 37 8 17796417 17796417 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:17796417T>G ENST00000325083.8 + 5 950 c.511T>G c.(511-513)Tgt>Ggt p.C171G PCM1_ENST00000518537.1_Missense_Mutation_p.C171G|PCM1_ENST00000519253.1_Missense_Mutation_p.C171G|PCM1_ENST00000524226.1_Missense_Mutation_p.C171G NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 171 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) ATCAGCACAGTGTAAAGAGTT 0.443000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 21 36 0 0 0.00152264 0 0 ENC1 8507 broad.mit.edu 37 5 73931133 73931133 + Missense_Mutation SNP A A G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:73931133A>G ENST00000302351.4 - 2 2308 c.1178T>C c.(1177-1179)gTt>gCt p.V393A ENC1_ENST00000537006.1_Missense_Mutation_p.V393A|ENC1_ENST00000510316.1_Missense_Mutation_p.V320A NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 393 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GTGCCCCCCAACCACATACAG 0.577000 20 44 0 0 0.00152264 0 0 SERPINA6 866 broad.mit.edu 37 14 94780373 94780373 + Splice_Site SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:94780373C>T ENST00000341584.3 - 2 759 c.613_splice c.e2+1 p.G205_splice NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 205 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GTGGGAATACCTTTGAAGAAG 0.483000 24 47 0 0 0.00332997 0 0 RFPL1 5988 broad.mit.edu 37 22 29837591 29837591 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:29837591G>A ENST00000354373.2 + 2 643 c.434G>A c.(433-435)aGg>aAg p.R145K RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 145 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 GACGACCTCAGGAGCGTCCGA 0.502000 13 36 0 0 0.00400662 0 0 L1TD1 54596 broad.mit.edu 37 1 62676159 62676159 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:62676159G>A ENST00000498273.1 + 4 2008 c.1713G>A c.(1711-1713)aaG>aaA p.K571K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 571 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AGCATAAAAAGCATTCACATA 0.418000 12 26 0 0 0.00136819 0 0 CUX1 1523 broad.mit.edu 37 7 101870752 101870752 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:101870752C>T ENST00000360264.3 + 21 3289 c.3269C>T c.(3268-3270)cCc>cTc p.P1090L CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P977L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1079L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P921L|CUX1_ENST00000550008.2_Missense_Mutation_p.P1023L|CUX1_ENST00000549414.2_Missense_Mutation_p.P1057L|CUX1_ENST00000547394.2_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1079 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 CAGCCCTGTCCCCCCATCGAG 0.662000 18 18 0 0 0.00074312 0 0 DNAH5 1767 broad.mit.edu 37 5 13850770 13850770 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:13850770G>A ENST00000265104.4 - 31 5209 c.5105C>T c.(5104-5106)tCc>tTc p.S1702F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1702 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) CCCAGTAAGGGATTTCTGGCA 0.468000 Kartagener syndrome 11 28 0 0 0.00136819 0 0 SYN1 6853 broad.mit.edu 37 X 47466579 47466579 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:47466579C>T ENST00000295987.7 - 2 520 c.396G>A c.(394-396)ggG>ggA p.G132G SYN1_ENST00000340666.4_Silent_p.G132G NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 132 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 GGATCTTTTTCCCTTTGAAGT 0.438000 16 4 0 0 0.00074312 0 0 ZNF765 91661 broad.mit.edu 37 19 53905318 53905318 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53905318G>A ENST00000396408.3 + 3 133 c.15_splice c.e3-1 p.G6_splice ZNF765_ENST00000594030.1_Splice_Site_p.G6_splice NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) TTCATTTCAGGGTCTATTGAC 0.433000 21 67 0 0 0.00395357 0 0 ZNF214 7761 broad.mit.edu 37 11 7022704 7022704 + Nonsense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7022704C>T ENST00000278314.4 - 3 525 c.210G>A c.(208-210)tgG>tgA p.W70* ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Nonsense_Mutation_p.W70* NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CAGCATTCCACCAGCCTTGCC 0.403000 56 148 0 0 0.00361006 0 0 CPN2 1370 broad.mit.edu 37 3 194062946 194062946 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:194062946C>T ENST00000323830.3 - 2 575 c.486G>A c.(484-486)agG>agA p.R162R CPN2_ENST00000429275.1_Silent_p.R162R NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 162 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) GGAAGAGCCTCCTGGGCAGGG 0.642000 20 33 0 0 0.000958276 0 0 ADAM18 8749 broad.mit.edu 37 8 39442827 39442827 + Missense_Mutation SNP C C T rs150907859 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:39442827C>T ENST00000265707.5 + 2 133 c.88C>T c.(88-90)Cca>Tca p.P30S ADAM18_ENST00000520772.1_Missense_Mutation_p.P30S|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P30S NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 30 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGTCACAGTTCCACGGAAGAT 0.343000 15 27 0 0 0.000566183 0 0 TENM3 55714 broad.mit.edu 37 4 183713602 183713602 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:183713602C>T ENST00000511685.1 + 26 5900 c.5777C>T c.(5776-5778)aCg>aTg p.T1926M TENM3_ENST00000406950.2_Missense_Mutation_p.T1926M teneurin transmembrane protein 3 TCCATCATCACGGACTACAAC 0.512000 11 27 0 0 0.00136819 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654188 61654188 + Silent SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:61654188C>T ENST00000397985.2 + 7 1057 c.801C>T c.(799-801)ttC>ttT p.F267F SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Silent_p.F85F|SERPINB8_ENST00000353706.2_Silent_p.F267F NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 267 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTCAAGTTTTCCTTCCCAGAT 0.393000 34 47 0 0 0.0024448 0 0 CACNG3 10368 broad.mit.edu 37 16 24268165 24268165 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:24268165G>A ENST00000005284.3 + 1 1292 c.90G>A c.(88-90)acG>acA p.T30T NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 30 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.T30T(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CAGTGGGCACGGACTACTGGT 0.443000 43 81 0 0 0.00285205 0 0 CMYA5 202333 broad.mit.edu 37 5 79029836 79029836 + Missense_Mutation SNP G G A rs62621913 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:79029836G>A ENST00000446378.2 + 2 5279 c.5248G>A c.(5248-5250)Gga>Aga p.G1750R NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1750 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) TTCTTTAAAAGGATTATCAGA 0.438000 12 41 0 0 0.000978159 0 0 STAB2 55576 broad.mit.edu 37 12 104063386 104063386 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:104063386C>T ENST00000388887.2 + 21 2444 c.2240C>T c.(2239-2241)cCa>cTa p.P747L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 747 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.P747L(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTCTCAAATCCATGCTCAGGA 0.408000 20 70 0 0 0.00188189 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- IFRD2 7866 broad.mit.edu 37 3 50326964 50326964 + Frame_Shift_Del DEL C C - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:50326964delC ENST00000436390.1 - 10 1190 c.693delG c.(691-693)ctfs p.L231fs IFRD2_ENST00000417626.2_Frame_Shift_Del_p.L231fs|IFRD2_ENST00000429673.2_Frame_Shift_Del_p.L295fs|IFRD2_ENST00000336089.4_Frame_Shift_Del_p.L397fs Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 295 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCAGGCCGTGCAGGCTGGCAG 0.597 2 4 --- --- --- --- FAM86EP 348926 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 5 2 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 9 383 --- --- --- --- FRA10AC1 118924 broad.mit.edu 37 10 95459812 95459813 + Frame_Shift_Del DEL CA CA - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:95459812_95459813delCA ENST00000359204.4 - 2 248_249 c.51_52delTG c.(49-54)tggafs p.CG17fs FRA10AC1_ENST00000371430.2_Frame_Shift_Del_p.CG17fs|FRA10AC1_ENST00000394100.2_Frame_Shift_Del_p.CG17fs|FRA10AC1_ENST00000536233.1_Frame_Shift_Del_p.CG17fs NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 17 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CTGGATTCTCCACAGCGTTCAT 0.322 18 26 --- --- --- --- IRAK4 51135 broad.mit.edu 37 12 44166759 44166761 + In_Frame_Del DEL AAC AAC - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:44166759_44166761delAAC ENST00000431837.1 + 4 471_473 c.163_165delAAC c.(163-165)del p.N55del IRAK4_ENST00000448290.2_In_Frame_Del_p.N179del|IRAK4_ENST00000440781.2_In_Frame_Del_p.N55del|IRAK4_ENST00000551736.1_In_Frame_Del_p.N179del NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 179 Death. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TGTCACAAATAACTTTGATGAAC 0.300 9 28 --- --- --- --- TGDS 23483 broad.mit.edu 37 13 95230979 95230984 + Splice_Site DEL CATACC CATACC - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:95230979_95230984delCATACC ENST00000261296.5 - 8 779_780 c.659_splice c.e8+1 p.220_splice TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 220 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GTAATAATAACATACCATTTCCTGTT 0.282 11 66 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 3 3 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 2 4 --- --- --- --- MYH11 4629 broad.mit.edu 37 16 15931989 15931989 + Frame_Shift_Del DEL C C - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:15931989delC ENST00000338282.6 - 2 227 c.121delG c.(121-123)agfs p.E41fs MYH11_ENST00000452625.2_Frame_Shift_Del_p.E41fs|MYH11_ENST00000396324.3_Frame_Shift_Del_p.E41fs|MYH11_ENST00000300036.5_Frame_Shift_Del_p.E41fs|MYH11_ENST00000576790.1_Frame_Shift_Del_p.E41fs NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 41 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCCTGCTTCTCCGAGGGGACC 0.567 T CBFB AML 31 72 --- --- --- --- APOBR 55911 broad.mit.edu 37 16 28507398 28507424 + In_Frame_Del DEL GGGACAGCCTCAGGAGGGGAGGAGGCC GGGACAGCCTCAGGAGGGGAGGAGGCC - rs71657822 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC ENST00000564831.1 + 2 1069_1095 c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC c.(1036-1062)del p.GTASGGEEA355del APOBR_ENST00000328423.5_Splice_Site_p.346_splice|APOBR_ENST00000431282.1_Splice_Site_p.346_splice NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 355 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT 0.705 8 25 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 6 3 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 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) TGGCAaggatgaggaggaggagg 0.591 7 337 --- --- --- ---